#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_ORegAnno_bin	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
PLOD1	5351	hgsc.bcm.edu	37	1	12024284	12024285	+	Frame_Shift_Ins	INS	-	-	G	rs373446893		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:12024284_12024285insG	ENST00000196061.4	+	12	1282_1283	c.1255_1256insG	c.(1255-1257)tggfs	p.W419fs	PLOD1_ENST00000376369.3_Frame_Shift_Ins_p.W466fs	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	419					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)	p.A421fs*45(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	GTCGAACTTCTGGGGGGCTCTC	0.629																																					p.W419fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1255_1256insG	1						.																																			11946872	SO:0001589	frameshift_variant	5351	exon12			BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.1261dupG	1.37:g.12024290_12024290dupG	ENSP00000196061:p.Trp419fs		11946871	NM_000302	B4DR87|Q96AV9|Q9H132	Frame_Shift_Ins	INS	ENST00000196061.4	37	CCDS142.1																																																																																				0.629	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302	
VANGL2	57216	hgsc.bcm.edu	37	1	160388801	160388802	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:160388801_160388802insG	ENST00000368061.2	+	4	676_677	c.202_203insG	c.(202-204)tggfs	p.W68fs		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	68					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)		p.E70fs*17(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGATGACAACTGGGGGGAAACG	0.554																																					p.W68fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.202_203insG	1						.																																			158655426	SO:0001589	frameshift_variant	57216	exon4			AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.208dupG	1.37:g.160388807_160388807dupG	ENSP00000357040:p.Trp68fs		158655425	NM_020335	D3DVE9|Q5T212	Frame_Shift_Ins	INS	ENST00000368061.2	37	CCDS30915.1																																																																																				0.554	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335	
MRGPRD	116512	hgsc.bcm.edu	37	11	68748168	68748169	+	Frame_Shift_Ins	INS	-	-	TT	rs200069067|rs145695821		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:68748168_68748169insTT	ENST00000309106.3	-	1	286_287	c.287_288insAA	c.(286-288)aagfs	p.K96fs		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	96						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V97fs*5(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCTCGTGGACCTTGTCAGTGGT	0.574																																					p.K96fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.288_289insAA	11						.																																			68504745	SO:0001589	frameshift_variant	116512	exon1			AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"""GPCR / Class A : Orphans"""	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.286_287dupAA	11.37:g.68748169_68748170dupTT	ENSP00000310631:p.Lys96fs		68504744	NM_198923	Q8NGK7	Frame_Shift_Ins	INS	ENST00000309106.3	37	CCDS31625.1																																																																																				0.574	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923	
ADNP2	22850	hgsc.bcm.edu	37	18	77894260	77894261	+	Frame_Shift_Ins	INS	-	-	C	rs560454696		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr18:77894260_77894261insC	ENST00000262198.4	+	4	1419_1420	c.964_965insC	c.(964-966)tccfs	p.S322fs		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	322	Pro-rich.				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.A325fs*59(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)		CCTCACTCATTCCCCCCCTGCT	0.644																																					p.S322fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.964_965insC	18						.																																			75995252	SO:0001589	frameshift_variant	22850	exon4			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.971dupC	18.37:g.77894267_77894267dupC	ENSP00000262198:p.Ser322fs		75995251	NM_014913	A8K951|O94943|Q9H9P3	Frame_Shift_Ins	INS	ENST00000262198.4	37	CCDS32853.1																																																																																				0.644	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913	
ACVR2B	93	hgsc.bcm.edu	37	3	38522929	38522930	+	Frame_Shift_Ins	INS	-	-	A	rs200894388		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:38522929_38522930insA	ENST00000352511.4	+	8	1519_1520	c.1047_1048insA	c.(1048-1050)aaafs	p.K350fs		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	350	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.P351fs*18(1)		lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		TTGAGCCAGGGAAACCTCCAGG	0.535																																					p.G349fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1047_1048insA	3						.																																			38497934	SO:0001589	frameshift_variant	93	exon8			X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.1050dupA	3.37:g.38522932_38522932dupA	ENSP00000340361:p.Lys350fs		38497933	NM_001106	Q4VAV0	Frame_Shift_Ins	INS	ENST00000352511.4	37	CCDS2679.1																																																																																				0.535	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254059.3	NM_001106	
SUOX	6821	hgsc.bcm.edu	37	12	56397530	56397531	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:56397530_56397531insG	ENST00000394109.3	+	3	1081_1082	c.357_358insG	c.(358-360)gggfs	p.G120fs	SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000356124.4_Frame_Shift_Ins_p.G120fs|SUOX_ENST00000394115.2_Frame_Shift_Ins_p.G120fs|SUOX_ENST00000266971.3_Frame_Shift_Ins_p.G120fs|SUOX_ENST00000551841.2_Intron|SUOX_ENST00000548274.1_Frame_Shift_Ins_p.G120fs			P51687	SUOX_HUMAN	sulfite oxidase	120	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)	p.P122fs*29(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			ACCTACATCCAGGGGGGCCTTC	0.564																																					p.P119fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.357_358insG	12						.																																			54683798	SO:0001589	frameshift_variant	6821	exon5			BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.363dupG	12.37:g.56397536_56397536dupG	ENSP00000377668:p.Gly120fs		54683797	NM_001032386		Frame_Shift_Ins	INS	ENST00000394109.3	37	CCDS8901.2																																																																																				0.564	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	NM_000456	
RAB21	23011	hgsc.bcm.edu	37	12	72164438	72164439	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:72164438_72164439insT	ENST00000261263.3	+	3	542_543	c.286_287insT	c.(286-288)attfs	p.I96fs		NM_014999.2	NP_055814.1	Q9UL25	RAB21_HUMAN	RAB21, member RAS oncogene family	96					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.L97fs*4(1)		large_intestine(1)|lung(4)|prostate(1)	6						AAATGGAGCGATTTTAGTTTAT	0.337																																					p.I96fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.286_287insT	12						.																																			70450706	SO:0001589	frameshift_variant	23011	exon3			AF091035	CCDS9003.1	12q21.1	2014-09-04			ENSG00000080371	ENSG00000080371		"""RAB, member RAS oncogene"""	18263	protein-coding gene	gene with protein product		612398				10887961, 11697911, 16754960	Standard	NM_014999		Approved	KIAA0118	uc001swt.3	Q9UL25	OTTHUMG00000169572	ENST00000261263.3:c.290dupT	12.37:g.72164442_72164442dupT	ENSP00000261263:p.Ile96fs		70450705	NM_014999	Q14466|Q569H3	Frame_Shift_Ins	INS	ENST00000261263.3	37	CCDS9003.1																																																																																				0.337	RAB21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404855.1		
OPHN1	4983	hgsc.bcm.edu	37	X	67293049	67293050	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:67293049_67293050insT	ENST00000355520.5	-	20	2419_2420	c.1778_1779insA	c.(1777-1779)aagfs	p.K593fs	OPHN1_ENST00000540071.1_Frame_Shift_Ins_p.K593fs|OPHN1_ENST00000484842.1_5'UTR	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	593					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.R594fs*16(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GCAGCAAGCGCTTTGAAATCGT	0.5																																					p.K593fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1779_1780insA	X						.																																			67209775	SO:0001589	frameshift_variant	4983	exon20			AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.1779dupA	X.37:g.67293052_67293052dupT	ENSP00000347710:p.Lys593fs		67209774	NM_002547	B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Frame_Shift_Ins	INS	ENST00000355520.5	37	CCDS14388.1																																																																																				0.500	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547	
IFNA5	3442	hgsc.bcm.edu	37	9	21304905	21304906	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:21304905_21304906insT	ENST00000259555.4	-	1	406_407	c.350_351insA	c.(349-351)aatfs	p.N117fs		NM_002169.2	NP_002160.1	P01569	IFNA5_HUMAN	interferon, alpha 5	117					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)	p.N117fs*2(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTTCCAGGTCATTCAGCTGCTG	0.441																																					p.N117fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.351_352insA	9						.																																			21294906	SO:0001589	frameshift_variant	3442	exon1				CCDS6502.1	9p22	2010-08-24			ENSG00000147873	ENSG00000147873		"""Interferons"""	5426	protein-coding gene	gene with protein product		147565				1385305	Standard	NM_002169		Approved	IFN-alphaG	uc011lnh.2	P01569	OTTHUMG00000019664	ENST00000259555.4:c.351dupA	9.37:g.21304907_21304907dupT	ENSP00000259555:p.Asn117fs		21294905	NM_002169	Q52LX3	Frame_Shift_Ins	INS	ENST00000259555.4	37	CCDS6502.1																																																																																				0.441	IFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051893.1	NM_002169	
MLNR	2862	hgsc.bcm.edu	37	13	49796329	49796330	+	Frame_Shift_Ins	INS	-	-	A	rs200547315		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr13:49796329_49796330insA	ENST00000218721.1	+	2	1055_1056	c.1055_1056insA	c.(1054-1059)ccaatcfs	p.I353fs	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	353					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)	p.I353fs*16(1)		endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		TCTATCAACCCAATCCTCTACA	0.47																																					p.P352fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1055_1056insA	13						.																																			48694331	SO:0001589	frameshift_variant	2862	exon2			AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"""GPCR / Class A : Motilin receptors"""	4495	protein-coding gene	gene with protein product		602885	"""G protein-coupled receptor 38"""	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.1057dupA	13.37:g.49796331_49796331dupA	ENSP00000218721:p.Ile353fs		48694330	NM_001507		Frame_Shift_Ins	INS	ENST00000218721.1	37	CCDS9414.1																																																																																				0.470	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	NM_001507	
DNMBP	23268	hgsc.bcm.edu	37	10	101716765	101716766	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:101716765_101716766insC	ENST00000324109.4	-	4	556_557	c.465_466insG	c.(463-468)gggcttfs	p.L156fs	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Frame_Shift_Ins_p.L156fs	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	156	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L156fs*7(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TGAGCAGAAAGCCCCATTAGGG	0.569																																					p.L156fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.466_467insG	10						.																																			101706756	SO:0001589	frameshift_variant	23268	exon4			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.466dupG	10.37:g.101716769_101716769dupC	ENSP00000315659:p.Leu156fs		101706755	NM_015221	Q8IVY3|Q9Y2L3	Frame_Shift_Ins	INS	ENST00000324109.4	37	CCDS7485.1																																																																																				0.569	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221	
ANK3	288	hgsc.bcm.edu	37	10	61829973	61829974	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:61829973_61829974insA	ENST00000280772.2	-	37	10856_10857	c.10665_10666insT	c.(10663-10668)tttgacfs	p.D3556fs	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3556					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.D3556fs*1(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						GATTTACTGTCAAAAACTTCAT	0.455																																					p.D3556_S3557delinsX												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.10666_10667insT	10						.																																			61499980	SO:0001589	frameshift_variant	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.10666dupT	10.37:g.61829978_61829978dupA	ENSP00000280772:p.Asp3556fs		61499979	NM_020987	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Frame_Shift_Ins	INS	ENST00000280772.2	37	CCDS7258.1																																																																																				0.455	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
ITGA2	3673	hgsc.bcm.edu	37	5	52365973	52365974	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:52365973_52365974insT	ENST00000296585.5	+	17	2261_2262	c.2118_2119insT	c.(2119-2121)tttfs	p.F707fs		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	707					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)	p.S708fs*11(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ATGCAGATGGATTTTCATCCAG	0.351																																					p.G706fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.2118_2119insT	5						.																																			52401731	SO:0001589	frameshift_variant	3673	exon17				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.2122dupT	5.37:g.52365977_52365977dupT	ENSP00000296585:p.Phe707fs		52401730	NM_002203	Q14595	Frame_Shift_Ins	INS	ENST00000296585.5	37	CCDS3957.1																																																																																				0.351	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203	
SRRT	51593	hgsc.bcm.edu	37	7	100481762	100481762	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:100481762G>A	ENST00000347433.4	+	6	817	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	SRRT_ENST00000388793.4_Missense_Mutation_p.R220Q|SRRT_ENST00000457580.2_Missense_Mutation_p.R220Q|SRRT_ENST00000432932.1_Missense_Mutation_p.R220Q			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	220					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.R220Q(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						CTGCAAAACCGACTGAGGGTC	0.572																																					p.R220Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G659A	7						.						64.0	67.0	66.0					7																	100481762		2203	4300	6503	100319698	SO:0001583	missense	51593	exon6				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.659G>A	7.37:g.100481762G>A	ENSP00000314491:p.Arg220Gln		100319698	NM_001128852	A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329703	0.60743	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433	.	.	.	3.63	3.63	0.41609	.	0.000000	0.64402	D	0.000002	T	0.76485	0.3994	M	0.79805	2.47	0.58432	D	0.999999	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;D;D;D	0.76575	0.979;0.979;0.979;0.988	T	0.76255	-0.3026	9	0.36615	T	0.2	.	10.989	0.47539	0.0:0.0:1.0:0.0	.	220;220;220;220	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	Q	220	.	ENSP00000314491:R220Q	R	+	2	0	SRRT	100319698	1.000000	0.71417	0.996000	0.52242	0.728000	0.41692	9.023000	0.93683	2.042000	0.60477	0.313000	0.20887	CGA		0.572	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908	
MUC17	140453	hgsc.bcm.edu	37	7	100675379	100675379	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:100675379G>A	ENST00000306151.4	+	3	746	c.682G>A	c.(682-684)Gtg>Atg	p.V228M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	228	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.V228M(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCATGAAGGTGGCCAGTTC	0.468																																					p.V228M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G682A	7						.						173.0	177.0	176.0					7																	100675379		2203	4300	6503	100462099	SO:0001583	missense	140453	exon3			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.682G>A	7.37:g.100675379G>A	ENSP00000302716:p.Val228Met		100462099	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.402	-0.917957	0.02396	.	.	ENSG00000169876	ENST00000306151	T	0.02763	4.17	0.792	-1.58	0.08479	.	.	.	.	.	T	0.00998	0.0033	N	0.08118	0	0.09310	N	1	P	0.40144	0.704	B	0.20384	0.029	T	0.45264	-0.9273	9	0.36615	T	0.2	.	1.4188	0.02307	0.3606:0.0:0.3058:0.3335	.	228	Q685J3	MUC17_HUMAN	M	228	ENSP00000302716:V228M	ENSP00000302716:V228M	V	+	1	0	MUC17	100462099	0.009000	0.17119	0.000000	0.03702	0.006000	0.05464	0.625000	0.24477	-1.010000	0.03396	0.186000	0.17326	GTG		0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
MUC17	140453	hgsc.bcm.edu	37	7	100686777	100686777	+	Missense_Mutation	SNP	C	C	T	rs138142210	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:100686777C>T	ENST00000306151.4	+	3	12144	c.12080C>T	c.(12079-12081)aCg>aTg	p.T4027M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4027					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T4027M(2)|p.T4027K(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTGCATCAACGCTTTCTGCA	0.537													c|||	103	0.0205671	0.0	0.0173	5008	,	,		23075	0.0		0.0328	False		,,,				2504	0.0593				p.T4027M												.	.	3	Substitution - Missense(3)	prostate(1)|large_intestine(1)|lung(1)	c.C12080T	7						.		MET/THR	10,4396	17.9+/-39.9	0,10,2193	330.0	285.0	300.0		12080	-1.7	0.0	7	dbSNP_134	300	215,8385	90.4+/-152.6	2,211,4087	yes	missense	MUC17	NM_001040105.1	81	2,221,6280	TT,TC,CC		2.5,0.227,1.73	probably-damaging	4027/4494	100686777	225,12781	2203	4300	6503	100473497	SO:0001583	missense	140453	exon3			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12080C>T	7.37:g.100686777C>T	ENSP00000302716:p.Thr4027Met		100473497	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	24	0.01098901098901099	0	0.0	3	0.008287292817679558	0	0.0	21	0.027704485488126648	c	1.187	-0.636447	0.03557	0.00227	0.025	ENSG00000169876	ENST00000306151	T	0.02158	4.42	1.69	-1.66	0.08265	.	.	.	.	.	T	0.00384	0.0012	N	0.14661	0.345	0.09310	N	1	P	0.46578	0.88	B	0.26864	0.074	T	0.51748	-0.8666	9	0.34782	T	0.22	.	5.0714	0.14609	0.0:0.3773:0.0:0.6227	.	4027	Q685J3	MUC17_HUMAN	M	4027	ENSP00000302716:T4027M	ENSP00000302716:T4027M	T	+	2	0	MUC17	100473497	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.697000	0.05098	-0.342000	0.08363	-0.359000	0.07587	ACG		0.537	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
IFT22	64792	hgsc.bcm.edu	37	7	100958529	100958529	+	Silent	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:100958529T>C	ENST00000315322.4	-	5	537	c.444A>G	c.(442-444)tcA>tcG	p.S148S	RABL5_ENST00000517481.1_Silent_p.S71S|RABL5_ENST00000498704.2_Silent_p.S71S|RABL5_ENST00000437644.2_Silent_p.S118S|RABL5_ENST00000495166.1_5'UTR	NM_022777.2	NP_073614.1	Q9H7X7	IFT22_HUMAN		148					small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)	GTP binding (GO:0005525)	p.S148S(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					CTTCCAGGTTTGAGTGCACCA	0.438											OREG0018221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S118S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A354G	7						.						96.0	90.0	92.0					7																	100958529		2203	4300	6503	100745249	SO:0001819	synonymous_variant	64792	exon4																														ENST00000315322.4:c.444A>G	7.37:g.100958529T>C		1355	100745249	NM_001130820	Q49AG1|Q69YV5|Q9BSW4	Silent	SNP	ENST00000315322.4	37	CCDS5719.1																																																																																				0.438	RABL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347565.1		
LRWD1	222229	hgsc.bcm.edu	37	7	102113452	102113452	+	Missense_Mutation	SNP	G	G	A	rs150396748		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:102113452G>A	ENST00000292616.5	+	15	2052	c.1900G>A	c.(1900-1902)Gcc>Acc	p.A634T	MIR4467_ENST00000578629.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	634					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)	p.A634T(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CTACCTCACCGCCCTGACGGA	0.582																																					p.A634T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1900A	7						.	G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	119.0	102.0	108.0		1900	5.1	0.1	7	dbSNP_134	108	0,8600		0,0,4300	no	missense	LRWD1	NM_152892.1	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	634/648	102113452	1,13005	2203	4300	6503	101900457	SO:0001583	missense	222229	exon15			AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"""WD repeat domain containing"""	21769	protein-coding gene	gene with protein product	"""origin recognition complex associated"", ""centromere protein 33"""	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.1900G>A	7.37:g.102113452G>A	ENSP00000292616:p.Ala634Thr		101900457	NM_152892	A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	ENST00000292616.5	37	CCDS34715.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303791	0.81136	2.27E-4	0.0	ENSG00000161036	ENST00000292616	T	0.72051	-0.62	5.94	5.06	0.68205	.	0.048199	0.85682	D	0.000000	T	0.80654	0.4664	M	0.68593	2.085	0.51767	D	0.999936	D	0.89917	1.0	D	0.66602	0.945	T	0.81992	-0.0678	10	0.59425	D	0.04	-21.1237	12.2821	0.54769	0.0775:0.0:0.9225:0.0	.	634	Q9UFC0	LRWD1_HUMAN	T	634	ENSP00000292616:A634T	ENSP00000292616:A634T	A	+	1	0	LRWD1	101900457	1.000000	0.71417	0.068000	0.19968	0.712000	0.41017	6.944000	0.75940	1.520000	0.48965	0.561000	0.74099	GCC		0.582	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892	
SLC26A5	375611	hgsc.bcm.edu	37	7	103018089	103018089	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:103018089T>C	ENST00000306312.3	-	18	2204	c.1943A>G	c.(1942-1944)cAa>cGa	p.Q648R	SLC26A5_ENST00000393727.1_Missense_Mutation_p.Q650R|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.Q81R|SLC26A5_ENST00000393723.1_Missense_Mutation_p.Q618R|SLC26A5_ENST00000393730.1_Missense_Mutation_p.Q616R|SLC26A5_ENST00000393729.1_Missense_Mutation_p.Q611R|SLC26A5_ENST00000432958.2_Missense_Mutation_p.Q616R|SLC26A5_ENST00000339444.6_Missense_Mutation_p.Q648R|SLC26A5_ENST00000393735.2_Intron	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	648	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				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.Q648R(1)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						AAAATTGACTTGAGTGAAATC	0.413																																					p.Q648R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1943G	7						.						88.0	87.0	88.0					7																	103018089		2203	4300	6503	102805325	SO:0001583	missense	375611	exon18			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.1943A>G	7.37:g.103018089T>C	ENSP00000304783:p.Gln648Arg		102805325	NM_206883	Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.195837	0.58126	.	.	ENSG00000170615	ENST00000339444;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000354356;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;T;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32;0.19;-3.32;-3.32;-3.32	5.42	5.42	0.78866	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.267777	0.41500	D	0.000867	D	0.91178	0.7221	L	0.39633	1.23	0.28628	N	0.907819	P;D;D	0.54601	0.473;0.967;0.959	P;P;B	0.48063	0.565;0.495;0.362	D	0.87792	0.2619	10	0.59425	D	0.04	.	11.3904	0.49811	0.0:0.0:0.2714:0.7286	.	648;616;648	P58743;Q496J2;P58743-2	S26A5_HUMAN;.;.	R	648;648;616;616;81;611;650;618	ENSP00000342396:Q648R;ENSP00000304783:Q648R;ENSP00000377331:Q616R;ENSP00000389733:Q616R;ENSP00000346325:Q81R;ENSP00000377330:Q611R;ENSP00000377328:Q650R;ENSP00000377324:Q618R	ENSP00000304783:Q648R	Q	-	2	0	SLC26A5	102805325	1.000000	0.71417	0.992000	0.48379	0.893000	0.52053	4.984000	0.63838	2.188000	0.69820	0.529000	0.55759	CAA		0.413	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999	
RELN	5649	hgsc.bcm.edu	37	7	103206776	103206776	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:103206776C>G	ENST00000428762.1	-	33	4990	c.4831G>C	c.(4831-4833)Gat>Cat	p.D1611H	RELN_ENST00000343529.5_Missense_Mutation_p.D1611H|RELN_ENST00000424685.2_Missense_Mutation_p.D1611H	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1611					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.D1611H(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)		ATAGAGCCATCAAATTTGTCT	0.403																																					p.D1611H	NSCLC(146;835 1944 15585 22231 52158)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4831C	7						.						101.0	97.0	98.0					7																	103206776		2203	4300	6503	102994012	SO:0001583	missense	5649	exon33				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.4831G>C	7.37:g.103206776C>G	ENSP00000392423:p.Asp1611His		102994012	NM_005045	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519459	0.85495	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.40756	1.02;1.67;1.02	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.68100	0.2964	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.85130	0.989;0.997	T	0.67941	-0.5540	10	0.72032	D	0.01	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	1611;1611	P78509-2;P78509	.;RELN_HUMAN	H	1611	ENSP00000392423:D1611H;ENSP00000345694:D1611H;ENSP00000388446:D1611H	ENSP00000345694:D1611H	D	-	1	0	RELN	102994012	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.280000	0.78610	2.894000	0.99253	0.655000	0.94253	GAT		0.403	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
CFTR	1080	hgsc.bcm.edu	37	7	117232511	117232511	+	Nonsense_Mutation	SNP	C	C	T	rs387906376|rs121908810		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:117232511C>T	ENST00000003084.6	+	14	2422	c.2290C>T	c.(2290-2292)Cga>Tga	p.R764*	CFTR_ENST00000454343.1_Nonsense_Mutation_p.R703*	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	764					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.R764*(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GCTTCAGGCACGAAGGAGGCA	0.532									Cystic Fibrosis																												p.R764X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2290T	7	GRCh37	CM960282	CFTR	M	rs121908810	.						81.0	59.0	67.0					7																	117232511		2203	4300	6503	117019747	SO:0001587	stop_gained	1080	exon14	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2290C>T	7.37:g.117232511C>T	ENSP00000003084:p.Arg764*		117019747	NM_000492	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Nonsense_Mutation	SNP	ENST00000003084.6	37	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129809	0.77549	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	.	.	.	5.35	-1.6	0.08426	.	0.346769	0.33610	N	0.004735	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	0.3329	5.0856	0.14680	0.3396:0.3844:0.2133:0.0627	.	.	.	.	X	764;703;734	.	ENSP00000003084:R764X	R	+	1	2	CFTR	117019747	0.001000	0.12720	0.000000	0.03702	0.115000	0.19883	1.136000	0.31467	-0.551000	0.06175	0.563000	0.77884	CGA		0.532	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492	
CTTNBP2	83992	hgsc.bcm.edu	37	7	117432760	117432760	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:117432760G>A	ENST00000160373.3	-	4	581	c.490C>T	c.(490-492)Cgt>Tgt	p.R164C	CTTNBP2_ENST00000487820.1_5'UTR	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	164					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.R164C(2)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTCTTGCCACGCTCTTCCTCA	0.527																																					p.R164C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C490T	7						.						89.0	83.0	85.0					7																	117432760		2203	4300	6503	117219996	SO:0001583	missense	83992	exon4				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.490C>T	7.37:g.117432760G>A	ENSP00000160373:p.Arg164Cys		117219996	NM_033427	O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767420	0.69878	.	.	ENSG00000077063	ENST00000160373;ENST00000434890;ENST00000454375	T;T;T	0.49720	0.77;0.77;0.77	5.77	4.88	0.63580	Cortactin-binding protein-2, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72527	-0.4266	10	0.87932	D	0	-0.2737	16.7222	0.85413	0.0:0.0:0.8699:0.1301	.	164	Q8WZ74	CTTB2_HUMAN	C	164;122;122	ENSP00000160373:R164C;ENSP00000396014:R122C;ENSP00000405831:R122C	ENSP00000160373:R164C	R	-	1	0	CTTNBP2	117219996	1.000000	0.71417	0.994000	0.49952	0.807000	0.45602	5.309000	0.65774	1.556000	0.49512	0.650000	0.86243	CGT		0.527	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427	
PTPRZ1	5803	hgsc.bcm.edu	37	7	121623820	121623820	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:121623820A>G	ENST00000393386.2	+	7	1132	c.721A>G	c.(721-723)Aca>Gca	p.T241A	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.T241A	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	241	Alpha-carbonic anhydrase.				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.T241A(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						TCCTCCCTGCACAGACACAGT	0.378																																					p.T241A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A721G	7						.						166.0	150.0	155.0					7																	121623820		2203	4300	6503	121411056	SO:0001583	missense	5803	exon7			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.721A>G	7.37:g.121623820A>G	ENSP00000377047:p.Thr241Ala		121411056	NM_002851	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.470150	0.43839	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.54071	0.59;0.59	5.62	5.62	0.85841	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.078213	0.53938	D	0.000047	T	0.49012	0.1532	L	0.47016	1.485	0.25452	N	0.987997	B;P	0.41450	0.371;0.75	B;B	0.43155	0.271;0.41	T	0.54207	-0.8328	10	0.87932	D	0	.	9.6896	0.40120	0.7428:0.0:0.0:0.2572	.	241;241	C9JFM0;P23471	.;PTPRZ_HUMAN	A	241	ENSP00000377047:T241A;ENSP00000410000:T241A	ENSP00000377047:T241A	T	+	1	0	PTPRZ1	121411056	0.920000	0.31207	1.000000	0.80357	0.996000	0.88848	1.159000	0.31749	2.269000	0.75478	0.443000	0.29094	ACA		0.378	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851	
GPR37	2861	hgsc.bcm.edu	37	7	124404541	124404541	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:124404541G>A	ENST00000303921.2	-	1	1140	c.490C>T	c.(490-492)Cgt>Tgt	p.R164C		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	164					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.R164C(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						TCCTGGCTACGCCCGGAAATG	0.592																																					p.R164C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C490T	7						.						58.0	69.0	65.0					7																	124404541		2203	4300	6503	124191777	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.490C>T	7.37:g.124404541G>A	ENSP00000306449:p.Arg164Cys		124191777	NM_005302	A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.357849	0.24598	.	.	ENSG00000170775	ENST00000303921	T	0.09350	2.99	5.14	-0.191	0.13252	.	1.011940	0.07903	N	0.973046	T	0.04452	0.0122	N	0.14661	0.345	0.09310	N	1	P	0.46327	0.876	B	0.32805	0.153	T	0.32929	-0.9888	10	0.56958	D	0.05	-4.433	3.0023	0.06017	0.084:0.2847:0.3392:0.2921	.	164	O15354	GPR37_HUMAN	C	164	ENSP00000306449:R164C	ENSP00000306449:R164C	R	-	1	0	GPR37	124191777	0.000000	0.05858	0.296000	0.24974	0.568000	0.35870	-0.122000	0.10627	0.115000	0.18071	-0.150000	0.13652	CGT		0.592	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302	
ZNF800	168850	hgsc.bcm.edu	37	7	127014298	127014298	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:127014298G>C	ENST00000393313.1	-	5	1683	c.1092C>G	c.(1090-1092)tgC>tgG	p.C364W	ZNF800_ENST00000265827.3_Missense_Mutation_p.C364W|ZNF800_ENST00000393312.1_Missense_Mutation_p.C364W|ZNF800_ENST00000485577.1_5'Flank			Q2TB10	ZN800_HUMAN	zinc finger protein 800	364					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.C364W(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						ATTTCCTCTTGCAAAGGAGGC	0.333																																					p.C364W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1092G	7						.						79.0	83.0	82.0					7																	127014298		2203	4299	6502	126801534	SO:0001583	missense	168850	exon5			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1092C>G	7.37:g.127014298G>C	ENSP00000376989:p.Cys364Trp		126801534	NM_176814	Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044820	0.36085	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.60040	0.22;0.22;0.22	5.38	5.38	0.77491	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.60051	0.2239	N	0.19112	0.55	0.41180	D	0.986220	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.64441	-0.6407	8	.	.	.	-5.8881	11.8966	0.52659	0.0796:0.0:0.9204:0.0	.	267;364	B7Z4V7;Q2TB10	.;ZN800_HUMAN	W	364	ENSP00000376989:C364W;ENSP00000265827:C364W;ENSP00000376988:C364W	.	C	-	3	2	ZNF800	126801534	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.942000	0.63547	2.685000	0.91497	0.650000	0.86243	TGC		0.333	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814	
IMPDH1	3614	hgsc.bcm.edu	37	7	128041077	128041077	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:128041077C>T	ENST00000480861.1	-	3	318	c.241G>A	c.(241-243)Gcc>Acc	p.A81T	IMPDH1_ENST00000354269.5_Missense_Mutation_p.A156T|IMPDH1_ENST00000343214.4_Missense_Mutation_p.A81T|IMPDH1_ENST00000338791.6_Missense_Mutation_p.A166T|IMPDH1_ENST00000348127.6_Missense_Mutation_p.A130T|IMPDH1_ENST00000470772.1_Missense_Mutation_p.A81T|IMPDH1_ENST00000496200.1_Missense_Mutation_p.A81T|IMPDH1_ENST00000419067.2_Missense_Mutation_p.A133T|IMPDH1_ENST00000378717.4_Missense_Mutation_p.A97T	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1									p.A166T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						ACAGCCATGGCAATGGCCATG	0.612																																					p.A166T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G496A	7						.						95.0	84.0	88.0					7																	128041077		2203	4300	6503	127828313	SO:0001583	missense	3614	exon6				CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.241G>A	7.37:g.128041077C>T	ENSP00000420185:p.Ala81Thr		127828313	NM_000883		Missense_Mutation	SNP	ENST00000480861.1	37	CCDS55161.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.788389	0.70337	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861;ENST00000497868;ENST00000489263	T;T;T;T;T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.34;-1.39	4.95	4.95	0.65309	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.86838	0.6029	M	0.70787	2.145	0.80722	D	1	P;B;B;B;B;B;B;B	0.45902	0.868;0.168;0.168;0.114;0.448;0.158;0.304;0.067	P;B;B;B;P;B;B;B	0.56216	0.794;0.246;0.246;0.137;0.594;0.107;0.361;0.111	D	0.87984	0.2745	10	0.59425	D	0.04	-14.5201	15.7182	0.77685	0.0:1.0:0.0:0.0	.	133;81;81;97;156;130;166;81	C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.;.	T	133;166;81;156;97;130;81;81;81;97;97	ENSP00000399400:A133T;ENSP00000345096:A166T;ENSP00000420803:A81T;ENSP00000346219:A156T;ENSP00000367989:A97T;ENSP00000265385:A130T;ENSP00000342438:A81T;ENSP00000417296:A81T;ENSP00000420185:A81T;ENSP00000419609:A97T;ENSP00000418592:A97T	ENSP00000345096:A166T	A	-	1	0	IMPDH1	127828313	1.000000	0.71417	0.527000	0.27925	0.730000	0.41778	5.814000	0.69208	2.294000	0.77228	0.655000	0.94253	GCC		0.612	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1	NM_000883	
SVOPL	136306	hgsc.bcm.edu	37	7	138333813	138333813	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:138333813G>A	ENST00000419765.3	-	7	637	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	SVOPL_ENST00000436657.1_Missense_Mutation_p.R50C|SVOPL_ENST00000421622.1_Missense_Mutation_p.R82C|SVOPL_ENST00000288513.5_Missense_Mutation_p.R50C	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	202						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.R50C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						ATGAGCCAGCGCCACCCGATG	0.592																																					p.R50C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C148T	7						.						72.0	66.0	68.0					7																	138333813		2203	4300	6503	137984353	SO:0001583	missense	136306	exon4			BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.604C>T	7.37:g.138333813G>A	ENSP00000405482:p.Arg202Cys		137984353	NM_174959		Missense_Mutation	SNP	ENST00000419765.3	37	CCDS47721.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834820	0.50951	.	.	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.11	5.11	0.69529	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.145941	0.53938	D	0.000060	D	0.86560	0.5962	M	0.93720	3.45	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.90283	0.4316	10	0.87932	D	0	-15.5726	17.3103	0.87207	0.0:0.0:1.0:0.0	.	202;50	Q8N434;Q8N434-2	SVOPL_HUMAN;.	C	50;82;50;202	ENSP00000288513:R50C;ENSP00000412830:R82C;ENSP00000417018:R50C;ENSP00000405482:R202C	ENSP00000288513:R50C	R	-	1	0	SVOPL	137984353	1.000000	0.71417	1.000000	0.80357	0.145000	0.21501	4.274000	0.58921	2.370000	0.80446	0.467000	0.42956	CGC		0.592	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959	
ADCK2	90956	hgsc.bcm.edu	37	7	140379076	140379076	+	Missense_Mutation	SNP	C	C	T	rs376247400		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:140379076C>T	ENST00000072869.4	+	3	1380	c.1202C>T	c.(1201-1203)aCg>aTg	p.T401M	ADCK2_ENST00000476491.1_Missense_Mutation_p.T401M	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	401	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T401M(1)		cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					TTGGTGGAAACGTATGAAGTA	0.537																																					p.T401M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1202T	7						.	C	MET/THR	0,4406		0,0,2203	114.0	103.0	107.0		1202	5.1	0.9	7		107	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADCK2	NM_052853.3	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	401/627	140379076	1,13005	2203	4300	6503	140025545	SO:0001583	missense	90956	exon3			AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.1202C>T	7.37:g.140379076C>T	ENSP00000072869:p.Thr401Met		140025545	NM_052853	Q96CN6|Q9Y6T5	Missense_Mutation	SNP	ENST00000072869.4	37	CCDS5861.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982499	0.74474	0.0	1.16E-4	ENSG00000133597	ENST00000072869;ENST00000476491;ENST00000473512	T;T;T	0.12255	2.7;2.7;2.7	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.43919	0.1269	M	0.89840	3.065	0.80722	D	1	D;D	0.69078	0.997;0.993	P;P	0.60949	0.881;0.743	T	0.54207	-0.8328	10	0.72032	D	0.01	-24.8706	18.7899	0.91969	0.0:1.0:0.0:0.0	.	401;401	C9JE15;Q7Z695	.;ADCK2_HUMAN	M	401;401;41	ENSP00000072869:T401M;ENSP00000420512:T401M;ENSP00000420288:T41M	ENSP00000072869:T401M	T	+	2	0	ADCK2	140025545	1.000000	0.71417	0.919000	0.36401	0.559000	0.35586	7.278000	0.78587	2.686000	0.91538	0.484000	0.47621	ACG		0.537	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853	
BRAF	673	hgsc.bcm.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												p.V600E	Colon(40;35 892 2973 5743 27438)		Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	BRAF,pituitary,NS,Substitution - Missense,0	.	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	c.T1799A	7						.						112.0	104.0	107.0					7																	140453136		2203	4300	6503	140099605	SO:0001583	missense	673	exon15	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		140099605	NM_004333	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	
TAS2R3	50831	hgsc.bcm.edu	37	7	141464186	141464186	+	Silent	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:141464186T>C	ENST00000247879.2	+	1	290	c.228T>C	c.(226-228)caT>caC	p.H76H	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	76					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.H76H(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					CCAACACACATGATTCAGGGA	0.408																																					p.H76H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T228C	7						.						205.0	203.0	204.0					7																	141464186		2203	4300	6503	141110655	SO:0001819	synonymous_variant	50831	exon1			AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.228T>C	7.37:g.141464186T>C			141110655	NM_016943	A4D1U2|Q645W2|Q75MV6	Silent	SNP	ENST00000247879.2	37	CCDS5867.1																																																																																				0.408	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1		
CNTNAP2	26047	hgsc.bcm.edu	37	7	147600793	147600793	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:147600793C>T	ENST00000361727.3	+	14	2751	c.2235C>T	c.(2233-2235)tgC>tgT	p.C745C		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	745	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.C745C(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACTGTAACTGCGACGCGGACT	0.542										HNSCC(39;0.1)																											p.C745C												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.C2235T	7						.						63.0	52.0	56.0					7																	147600793		2203	4300	6503	147231726	SO:0001819	synonymous_variant	26047	exon14			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2235C>T	7.37:g.147600793C>T			147231726	NM_014141	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	CCDS5889.1																																																																																				0.542	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
CUL1	8454	hgsc.bcm.edu	37	7	148464720	148464720	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:148464720G>A	ENST00000325222.4	+	9	1241	c.962G>A	c.(961-963)cGc>cAc	p.R321H	CUL1_ENST00000602748.1_Missense_Mutation_p.R321H|CUL1_ENST00000409469.1_Missense_Mutation_p.R321H	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	321					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)		p.R321H(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GATTTGGGACGCATGTATAAT	0.348																																					p.R321H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G962A	7						.						100.0	101.0	101.0					7																	148464720		2203	4300	6503	148095653	SO:0001583	missense	8454	exon9			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.962G>A	7.37:g.148464720G>A	ENSP00000326804:p.Arg321His		148095653	NM_003592	D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	32	5.129702	0.94473	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.77098	-1.07;-1.07	5.9	5.9	0.94986	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.047834	0.85682	D	0.000000	D	0.84795	0.5551	M	0.91612	3.225	0.80722	D	1	P	0.50710	0.938	B	0.42798	0.398	D	0.88058	0.2792	10	0.62326	D	0.03	-18.9671	20.2789	0.98501	0.0:0.0:1.0:0.0	.	321	Q13616	CUL1_HUMAN	H	321;321;279;248	ENSP00000387160:R321H;ENSP00000326804:R321H	ENSP00000326804:R321H	R	+	2	0	CUL1	148095653	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.570000	0.98174	2.788000	0.95919	0.650000	0.86243	CGC		0.348	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592	
EZH2	2146	hgsc.bcm.edu	37	7	148508753	148508753	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:148508753C>T	ENST00000460911.1	-	16	1984	c.1896G>A	c.(1894-1896)gtG>gtA	p.V632V	EZH2_ENST00000478654.1_Silent_p.V581V|EZH2_ENST00000483967.1_Silent_p.V623V|EZH2_ENST00000350995.2_Silent_p.V593V|EZH2_ENST00000476773.1_Silent_p.V581V|EZH2_ENST00000320356.2_Silent_p.V637V|EZH2_ENST00000541220.1_Silent_p.V581V			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	632	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.V637V(1)|p.V593V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			CATTTTTCTGCACAGGATCTT	0.383			Mis		DLBCL																																p.V593V			Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1779A	7						.						88.0	84.0	85.0					7																	148508753		2203	4300	6503	148139686	SO:0001819	synonymous_variant	2146	exon15				CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1896G>A	7.37:g.148508753C>T			148139686	NM_152998	B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Silent	SNP	ENST00000460911.1	37	CCDS56516.1																																																																																				0.383	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456	
SMARCD3	6604	hgsc.bcm.edu	37	7	150939593	150939593	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:150939593G>A	ENST00000262188.8	-	5	963	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	RP4-548D19.3_ENST00000607902.1_RNA|SMARCD3_ENST00000392811.2_Missense_Mutation_p.R172W|SMARCD3_ENST00000477169.1_5'UTR|SMARCD3_ENST00000356800.2_Missense_Mutation_p.R172W	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	185					cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R172W(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCTCCACCCGTAGCTCCCAG	0.577																																					p.R172W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C514T	7						.						83.0	88.0	86.0					7																	150939593		2203	4300	6503	150570526	SO:0001583	missense	6604	exon6			U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60C"", ""Swp73-like protein"", ""SWI/SNF complex 60 kDa subunit C"", ""60kDa BRG-1/Brm associated factor subunit c"""	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.553C>T	7.37:g.150939593G>A	ENSP00000262188:p.Arg185Trp		150570526	NM_003078	D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Missense_Mutation	SNP	ENST00000262188.8	37	CCDS34780.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880934	0.91740	.	.	ENSG00000082014	ENST00000262188;ENST00000392811;ENST00000356800;ENST00000347683	T;T;T	0.59083	0.29;0.29;0.29	4.58	4.58	0.56647	.	0.057977	0.64402	D	0.000001	T	0.79793	0.4507	M	0.90650	3.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.99;0.999;0.988;0.998	D	0.84173	0.0435	10	0.66056	D	0.02	-20.5441	14.9394	0.70980	0.0:0.0:1.0:0.0	.	185;185;172;185	B7Z4U8;B7ZA58;Q6STE5-2;Q6STE5	.;.;.;SMRD3_HUMAN	W	185;172;172;137	ENSP00000262188:R185W;ENSP00000376558:R172W;ENSP00000349254:R172W	ENSP00000262188:R185W	R	-	1	2	SMARCD3	150570526	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.440000	0.66563	2.362000	0.80069	0.563000	0.77884	CGG		0.577	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348825.1	NM_001003801	
SDK1	221935	hgsc.bcm.edu	37	7	4056825	4056825	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:4056825G>A	ENST00000404826.2	+	17	2582	c.2443G>A	c.(2443-2445)Gga>Aga	p.G815R	SDK1_ENST00000389531.3_Missense_Mutation_p.G815R	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	815	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.G815R(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)		TGGCCTTCCCGGAGAGTACCA	0.572																																					p.G815R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2443A	7						.						62.0	52.0	55.0					7																	4056825		2203	4300	6503	4023351	SO:0001583	missense	221935	exon17			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.2443G>A	7.37:g.4056825G>A	ENSP00000385899:p.Gly815Arg		4023351	NM_152744	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066363	0.55539	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.55052	0.54;0.54	6.07	5.18	0.71444	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.73140	0.3549	M	0.81341	2.54	0.53005	D	0.999966	D;D	0.89917	0.998;1.0	D;D	0.80764	0.94;0.994	T	0.73225	-0.4050	10	0.29301	T	0.29	.	16.7545	0.85496	0.0:0.0:0.8697:0.1303	.	815;815	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	R	815	ENSP00000385899:G815R;ENSP00000374182:G815R	ENSP00000374182:G815R	G	+	1	0	SDK1	4023351	1.000000	0.71417	0.334000	0.25495	0.205000	0.24178	7.909000	0.87444	1.558000	0.49541	-0.181000	0.13052	GGA		0.572	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
FOXK1	221937	hgsc.bcm.edu	37	7	4796634	4796634	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:4796634C>T	ENST00000328914.4	+	5	1060	c.1060C>T	c.(1060-1062)Cgg>Tgg	p.R354W	FOXK1_ENST00000446823.1_Missense_Mutation_p.R191W	NM_001037165.1	NP_001032242.1			forkhead box K1									p.R354W(2)|p.R332W(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		GAATTCTATCCGGCACAACCT	0.522																																					p.R354W												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C1060T	7						.						78.0	79.0	78.0					7																	4796634		2203	4300	6503	4763160	SO:0001583	missense	221937	exon5			BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1060C>T	7.37:g.4796634C>T	ENSP00000328720:p.Arg354Trp		4763160	NM_001037165		Missense_Mutation	SNP	ENST00000328914.4	37	CCDS34591.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191421	0.78902	.	.	ENSG00000164916	ENST00000446823;ENST00000450194;ENST00000328914;ENST00000545598	D;D	0.98135	-4.74;-4.74	5.8	5.8	0.92144	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.059857	0.64402	D	0.000003	D	0.99378	0.9781	H	0.98996	4.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98393	1.0564	10	0.87932	D	0	.	19.0512	0.93046	0.0:1.0:0.0:0.0	.	354;191	P85037;P85037-2	FOXK1_HUMAN;.	W	191;118;354;237	ENSP00000394442:R191W;ENSP00000328720:R354W	ENSP00000328720:R354W	R	+	1	2	FOXK1	4763160	1.000000	0.71417	0.986000	0.45419	0.991000	0.79684	3.933000	0.56545	2.735000	0.93741	0.655000	0.94253	CGG		0.522	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2		
MACC1	346389	hgsc.bcm.edu	37	7	20199214	20199214	+	Missense_Mutation	SNP	G	G	T	rs143659230		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:20199214G>T	ENST00000400331.5	-	5	1078	c.770C>A	c.(769-771)cCg>cAg	p.P257Q	MACC1_ENST00000332878.4_Missense_Mutation_p.P257Q|MACC1_ENST00000589011.1_Missense_Mutation_p.P257Q	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	257					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.P257Q(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						CATGTGTGGCGGATCAAGGAA	0.473																																					p.P257Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C770A	7						.						100.0	94.0	96.0					7																	20199214		2203	4300	6503	20165739	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.770C>A	7.37:g.20199214G>T	ENSP00000383185:p.Pro257Gln		20165739	NM_182762	A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450553	0.63290	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.12569	2.67;2.67	5.47	5.47	0.80525	.	0.048745	0.85682	D	0.000000	T	0.39655	0.1086	M	0.76574	2.34	0.80722	D	1	D	0.69078	0.997	D	0.67103	0.949	T	0.20840	-1.0263	10	0.87932	D	0	-17.0994	19.3261	0.94262	0.0:0.0:1.0:0.0	.	257	Q6ZN28	MACC1_HUMAN	Q	257	ENSP00000383185:P257Q;ENSP00000328410:P257Q	ENSP00000328410:P257Q	P	-	2	0	MACC1	20165739	1.000000	0.71417	0.997000	0.53966	0.406000	0.30931	8.023000	0.88764	2.569000	0.86673	0.585000	0.79938	CCG		0.473	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762	
OSBPL3	26031	hgsc.bcm.edu	37	7	24874213	24874213	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:24874213C>T	ENST00000313367.2	-	15	2089	c.1638G>A	c.(1636-1638)ccG>ccA	p.P546P	OSBPL3_ENST00000431825.2_Silent_p.P479P|OSBPL3_ENST00000396429.1_Silent_p.P510P|OSBPL3_ENST00000353930.1_Silent_p.P510P|OSBPL3_ENST00000352860.1_Silent_p.P515P|OSBPL3_ENST00000409069.1_Silent_p.P479P|OSBPL3_ENST00000396431.1_Silent_p.P515P	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	546					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)	p.P546P(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TCAGCTCCACCGGCATGGCCA	0.642																																					p.P510P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1530A	7						.						86.0	73.0	77.0					7																	24874213		2203	4300	6503	24840738	SO:0001819	synonymous_variant	26031	exon14			AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1638G>A	7.37:g.24874213C>T			24840738	NM_145321	A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Silent	SNP	ENST00000313367.2	37	CCDS5390.1																																																																																				0.642	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2		
NOD1	10392	hgsc.bcm.edu	37	7	30485797	30485797	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:30485797C>T	ENST00000222823.4	-	9	2938	c.2413G>A	c.(2413-2415)Gcc>Acc	p.A805T		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	805					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|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)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)	p.A805T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						ACAGCCAGGGCGAGATACTTC	0.522																																					p.A805T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2413A	7						.						364.0	292.0	316.0					7																	30485797		2203	4300	6503	30452322	SO:0001583	missense	10392	exon9			AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2413G>A	7.37:g.30485797C>T	ENSP00000222823:p.Ala805Thr		30452322	NM_006092	B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	C	34	5.391680	0.95988	.	.	ENSG00000106100	ENST00000222823	T	0.70282	-0.47	5.38	5.38	0.77491	.	0.049361	0.85682	D	0.000000	D	0.85978	0.5823	M	0.84773	2.715	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.87688	0.2552	10	0.62326	D	0.03	.	18.1152	0.89552	0.0:1.0:0.0:0.0	.	805	Q9Y239	NOD1_HUMAN	T	805	ENSP00000222823:A805T	ENSP00000222823:A805T	A	-	1	0	NOD1	30452322	1.000000	0.71417	0.567000	0.28434	0.995000	0.86356	6.981000	0.76166	2.509000	0.84616	0.655000	0.94253	GCC		0.522	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2		
AVL9	23080	hgsc.bcm.edu	37	7	32612907	32612907	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:32612907C>T	ENST00000318709.4	+	12	1668	c.1447C>T	c.(1447-1449)Cac>Tac	p.H483Y	AVL9_ENST00000404479.1_Intron|AVL9_ENST00000409301.1_Missense_Mutation_p.H483Y	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	483					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)		p.H483Y(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CCTAGTGAGGCACGTGACTGA	0.542																																					p.H483Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1447T	7						.						140.0	106.0	118.0					7																	32612907		2203	4300	6503	32579432	SO:0001583	missense	23080	exon12			D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.1447C>T	7.37:g.32612907C>T	ENSP00000315568:p.His483Tyr		32579432	NM_015060	Q92573	Missense_Mutation	SNP	ENST00000318709.4	37	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.031284	0.93575	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000446718	T;T;T	0.44881	0.91;0.91;0.91	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.63189	0.2490	M	0.70275	2.135	0.80722	D	1	D;P	0.57899	0.981;0.941	P;P	0.60682	0.791;0.878	T	0.64816	-0.6318	10	0.59425	D	0.04	-11.9114	19.4293	0.94758	0.0:1.0:0.0:0.0	.	483;483	Q8NBF6-2;Q8NBF6	.;AVL9_HUMAN	Y	483;483;483;414	ENSP00000315568:H483Y;ENSP00000387011:H483Y;ENSP00000395134:H414Y	ENSP00000315568:H483Y	H	+	1	0	AVL9	32579432	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.569000	0.82380	2.581000	0.87130	0.650000	0.86243	CAC		0.542	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060	
NME8	51314	hgsc.bcm.edu	37	7	37903045	37903045	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:37903045A>C	ENST00000199447.4	+	8	807	c.435A>C	c.(433-435)gaA>gaC	p.E145D	NME8_ENST00000440017.1_Missense_Mutation_p.E145D|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	145					cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.E145D(1)									TTAGTGAAGAATCACCATGTG	0.343																																					p.E145D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A435C	7						.						111.0	116.0	114.0					7																	37903045		2203	4300	6503	37869570	SO:0001583	missense	51314	exon8			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.435A>C	7.37:g.37903045A>C	ENSP00000199447:p.Glu145Asp		37869570	NM_016616	Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	A	6.785	0.513746	0.12944	.	.	ENSG00000086288	ENST00000199447;ENST00000455500;ENST00000444718;ENST00000440017	T;T	0.38240	1.15;1.15	3.61	1.15	0.20763	.	1.070290	0.07287	N	0.871755	T	0.21267	0.0512	N	0.24115	0.695	0.09310	N	1	B	0.19706	0.038	B	0.18561	0.022	T	0.27839	-1.0062	10	0.25106	T	0.35	-8.116	2.9473	0.05850	0.6669:0.0:0.1189:0.2142	.	145	Q8N427	TXND3_HUMAN	D	145;90;90;145	ENSP00000199447:E145D;ENSP00000397063:E145D	ENSP00000199447:E145D	E	+	3	2	TXNDC3	37869570	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	0.430000	0.21428	0.229000	0.21039	0.482000	0.46254	GAA		0.343	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616	
NME8	51314	hgsc.bcm.edu	37	7	37934112	37934112	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:37934112C>T	ENST00000199447.4	+	16	1816	c.1444C>T	c.(1444-1446)Cag>Tag	p.Q482*	NME8_ENST00000440017.1_Nonsense_Mutation_p.Q482*|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	482	NDK 3.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.Q482*(1)									TGATCTGACACAGGTGAAGAA	0.323																																					p.Q482X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1444T	7						.						79.0	81.0	81.0					7																	37934112		2203	4297	6500	37900637	SO:0001587	stop_gained	51314	exon16			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1444C>T	7.37:g.37934112C>T	ENSP00000199447:p.Gln482*		37900637	NM_016616	Q9NZH1	Nonsense_Mutation	SNP	ENST00000199447.4	37	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.815200	0.70912	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	.	.	.	4.05	1.11	0.20524	.	1.538750	0.03993	N	0.295204	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	1.0125	2.568	0.04788	0.1931:0.5141:0.1873:0.1055	.	.	.	.	X	482	.	ENSP00000199447:Q482X	Q	+	1	0	TXNDC3	37900637	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	0.135000	0.15952	0.231000	0.21079	0.467000	0.42956	CAG		0.323	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616	
CDK13	8621	hgsc.bcm.edu	37	7	40027511	40027511	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:40027511A>G	ENST00000181839.4	+	2	2130	c.1525A>G	c.(1525-1527)Aca>Gca	p.T509A	CDK13_ENST00000340829.5_Missense_Mutation_p.T509A|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	509					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.T509A(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TGCATCACAAACAAACCATGT	0.438																																					p.T509A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1525G	7						.						76.0	68.0	71.0					7																	40027511		2203	4300	6503	39994036	SO:0001583	missense	8621	exon2			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.1525A>G	7.37:g.40027511A>G	ENSP00000181839:p.Thr509Ala		39994036	NM_003718	Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	A	9.454	1.091409	0.20471	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.69175	-0.35;-0.38	5.9	3.22	0.36961	.	.	.	.	.	T	0.44371	0.1290	N	0.19112	0.55	0.30286	N	0.790878	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.002	T	0.33497	-0.9866	8	.	.	.	-7.0633	3.0836	0.06271	0.4829:0.0:0.2228:0.2943	.	509;509	Q14004-2;Q14004	.;CDK13_HUMAN	A	509	ENSP00000181839:T509A;ENSP00000340557:T509A	.	T	+	1	0	CDK13	39994036	0.532000	0.26346	0.929000	0.37066	0.990000	0.78478	0.684000	0.25364	1.058000	0.40530	0.460000	0.39030	ACA		0.438	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718	
C7orf25	79020	hgsc.bcm.edu	37	7	42949244	42949244	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:42949244C>T	ENST00000350427.4	-	2	1531	c.1256G>A	c.(1255-1257)aGt>aAt	p.S419N	C7orf25_ENST00000438029.1_Missense_Mutation_p.S419N|C7orf25_ENST00000431882.2_Missense_Mutation_p.S477N|C7orf25_ENST00000447342.1_Missense_Mutation_p.S419N|PSMA2_ENST00000442788.1_3'UTR			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	419								p.S419N(1)		endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						TTAGTGTTCACTGTCAGTTGT	0.403																																					p.S419N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1256A	7						.						85.0	86.0	86.0					7																	42949244		2203	4300	6503	42915769	SO:0001583	missense	79020	exon2			BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.1256G>A	7.37:g.42949244C>T	ENSP00000343364:p.Ser419Asn		42915769	NM_024054	A4D1V2|J3KR36|Q9H779	Missense_Mutation	SNP	ENST00000350427.4	37	CCDS5466.1	.	.	.	.	.	.	.	.	.	.	C	0.228	-1.023623	0.02061	.	.	ENSG00000136197	ENST00000350427;ENST00000447342;ENST00000431882;ENST00000438029	T;T;T;T	0.49720	0.86;0.86;0.77;0.86	5.96	-2.09	0.07232	.	0.726477	0.14025	N	0.346518	T	0.13372	0.0324	N	0.00926	-1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31861	-0.9928	10	0.02654	T	1	-2.038	9.2145	0.37339	0.0:0.4551:0.1021:0.4428	.	477;419	B4DQM3;Q9BPX7	.;CG025_HUMAN	N	419;419;477;419	ENSP00000343364:S419N;ENSP00000413029:S419N;ENSP00000416290:S477N;ENSP00000396597:S419N	ENSP00000343364:S419N	S	-	2	0	C7orf25	42915769	0.000000	0.05858	0.000000	0.03702	0.132000	0.20833	-0.372000	0.07504	-0.803000	0.04415	-0.140000	0.14226	AGT		0.403	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	NM_024054	
MRPL32	64983	hgsc.bcm.edu	37	7	42974677	42974677	+	Missense_Mutation	SNP	G	G	A	rs531271105		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:42974677G>A	ENST00000223324.2	+	2	441	c.254G>A	c.(253-255)cGc>cAc	p.R85H	MRPL32_ENST00000496564.1_3'UTR|PSMA2_ENST00000445517.1_5'Flank|PSMA2_ENST00000538645.1_5'Flank|PSMA2_ENST00000442788.1_5'Flank|PSMA2_ENST00000223321.4_5'Flank	NM_031903.2	NP_114109.1	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32	85					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R85H(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						AAAAATAGACGCACCATTGAA	0.423																																					p.R85H												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G254A	7						.						99.0	91.0	94.0					7																	42974677		2203	4300	6503	42941202	SO:0001583	missense	64983	exon2			AB051343	CCDS5468.1	7p14	2012-09-13			ENSG00000106591	ENSG00000106591		"""Mitochondrial ribosomal proteins / large subunits"""	14035	protein-coding gene	gene with protein product		611839				11543634	Standard	NM_031903		Approved	HSPC283, L32mt, MRP-L32, bMRP-59b	uc003tia.3	Q9BYC8	OTTHUMG00000155180	ENST00000223324.2:c.254G>A	7.37:g.42974677G>A	ENSP00000223324:p.Arg85His		42941202	NM_031903	Q96Q68|Q9P098	Missense_Mutation	SNP	ENST00000223324.2	37	CCDS5468.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110885	0.77210	.	.	ENSG00000106591	ENST00000223324	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.63768	0.2539	M	0.64630	1.985	0.80722	D	1	D	0.62365	0.991	P	0.47044	0.535	T	0.68232	-0.5463	9	0.56958	D	0.05	-2.9047	19.1002	0.93270	0.0:0.0:1.0:0.0	.	85	Q9BYC8	RM32_HUMAN	H	85	.	ENSP00000223324:R85H	R	+	2	0	MRPL32	42941202	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	6.784000	0.75084	2.500000	0.84329	0.650000	0.86243	CGC		0.423	MRPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338669.1	NM_031903	
OGDH	4967	hgsc.bcm.edu	37	7	44664111	44664111	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:44664111T>A	ENST00000222673.5	+	2	211	c.169T>A	c.(169-171)Tat>Aat	p.Y57N	OGDH_ENST00000543843.1_De_novo_Start_OutOfFrame|OGDH_ENST00000439616.2_Missense_Mutation_p.Y57N|OGDH_ENST00000447398.1_Missense_Mutation_p.Y57N|OGDH_ENST00000444676.1_Missense_Mutation_p.Y57N|OGDH_ENST00000443864.2_Missense_Mutation_p.Y57N|OGDH_ENST00000449767.1_Missense_Mutation_p.Y57N	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	57					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TAGTTCGAACTATGTGGAGGA	0.507																																					p.Y57N												.	.	0			c.T169A	7						.						208.0	187.0	194.0					7																	44664111		2203	4300	6503	44630636	SO:0001583	missense	4967	exon2			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.169T>A	7.37:g.44664111T>A	ENSP00000222673:p.Tyr57Asn		44630636	NM_001003941	B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.453792	0.84209	.	.	ENSG00000105953	ENST00000439616;ENST00000443864;ENST00000449767;ENST00000447398;ENST00000419661;ENST00000444676;ENST00000222673	T;T;T;T;T;T;T	0.42131	2.1;0.98;0.98;0.98;0.98;0.98;0.98	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.70500	0.3231	M	0.91038	3.17	0.80722	D	1	D;D;D;D;D	0.89917	0.995;1.0;1.0;1.0;1.0	D;D;D;D;D	0.75484	0.979;0.986;0.986;0.98;0.98	T	0.78580	-0.2149	10	0.87932	D	0	-15.6325	14.0598	0.64793	0.0:0.0:0.0:1.0	.	57;57;57;57;57	E9PFG7;E9PBM1;E9PDF2;Q02218;Q96DD3	.;.;.;ODO1_HUMAN;.	N	57	ENSP00000398576:Y57N;ENSP00000388084:Y57N;ENSP00000392878:Y57N;ENSP00000388183:Y57N;ENSP00000411830:Y57N;ENSP00000414662:Y57N;ENSP00000222673:Y57N	ENSP00000222673:Y57N	Y	+	1	0	OGDH	44630636	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.460000	0.80816	1.992000	0.58205	0.533000	0.62120	TAT		0.507	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1		
SUN3	256979	hgsc.bcm.edu	37	7	48045580	48045580	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:48045580G>T	ENST00000297325.4	-	6	722	c.563C>A	c.(562-564)gCc>gAc	p.A188D	SUN3_ENST00000395572.2_Missense_Mutation_p.A188D|SUN3_ENST00000453192.2_Missense_Mutation_p.A176D|SUN3_ENST00000412142.1_Missense_Mutation_p.A88D	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	188						integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)		p.A188D(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGACTTCAGGGCATAATCAGC	0.358																																					p.A188D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C563A	7						.						82.0	78.0	80.0					7																	48045580		2203	4300	6503	48012105	SO:0001583	missense	256979	exon7			AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"""Sad1 and UNC84 domain containing 1"""	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.563C>A	7.37:g.48045580G>T	ENSP00000297325:p.Ala188Asp		48012105	NM_152782	A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Missense_Mutation	SNP	ENST00000297325.4	37	CCDS34636.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.53|16.53	3.149020|3.149020	0.57151|0.57151	.|.	.|.	ENSG00000164744|ENSG00000164744	ENST00000297325;ENST00000412371;ENST00000412142;ENST00000395572;ENST00000453192;ENST00000438771|ENST00000453071	T;T;T;T;T;T|.	0.80653|.	0.29;-1.4;0.13;0.29;0.63;0.13|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76047|0.76047	0.3933|0.3933	M|M	0.78456|0.78456	2.415|2.415	0.51233|0.51233	D|D	0.999918|0.999918	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.999;0.998|.	T|T	0.76149|0.76149	-0.3065|-0.3065	10|5	0.87932|.	D|.	0|.	.|.	15.2926|15.2926	0.73879|0.73879	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	176;88;188|.	E7EWC8;Q8TAQ9-2;Q8TAQ9|.	.;.;SUN3_HUMAN|.	D|T	188;10;88;188;176;88|112	ENSP00000297325:A188D;ENSP00000406887:A10D;ENSP00000410204:A88D;ENSP00000378939:A188D;ENSP00000387525:A176D;ENSP00000409077:A88D|.	ENSP00000297325:A188D|.	A|P	-|-	2|1	0|0	SUN3|SUN3	48012105|48012105	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.367000|0.367000	0.29736|0.29736	4.662000|4.662000	0.61525|0.61525	2.764000|2.764000	0.94973|0.94973	0.650000|0.650000	0.86243|0.86243	GCC|CCC		0.358	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782	
WBSCR17	64409	hgsc.bcm.edu	37	7	70853323	70853323	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:70853323C>T	ENST00000333538.5	+	3	1159	c.525C>T	c.(523-525)gcC>gcT	p.A175A	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	175	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.A175A(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGCACAGTGCCGTCAATCACA	0.547																																					p.A175A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C525T	7						.						142.0	108.0	120.0					7																	70853323		2203	4300	6503	70491259	SO:0001819	synonymous_variant	64409	exon3			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.525C>T	7.37:g.70853323C>T			70491259	NM_022479	Q8NFV9|Q9NTA8	Silent	SNP	ENST00000333538.5	37	CCDS5540.1																																																																																				0.547	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479	
GTF2IRD1	9569	hgsc.bcm.edu	37	7	73927185	73927185	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:73927185C>T	ENST00000265755.3	+	3	542	c.149C>T	c.(148-150)gCc>gTc	p.A50V	GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.A50V|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.A50V|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.A50V	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	50					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A50V(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAACTGAACGCCGAGGTGGCC	0.602																																					p.A50V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C149T	7						.						82.0	73.0	76.0					7																	73927185		2203	4300	6503	73565121	SO:0001583	missense	9569	exon3			AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.149C>T	7.37:g.73927185C>T	ENSP00000265755:p.Ala50Val		73565121	NM_005685	O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	C	31	5.086200	0.94100	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.45668	0.91;1.01;0.93;0.89	4.52	3.64	0.41730	.	0.059042	0.64402	D	0.000002	T	0.41903	0.1179	L	0.52011	1.625	0.43724	D	0.996204	B;P;P;P	0.42827	0.162;0.748;0.791;0.72	B;B;B;B	0.43838	0.037;0.283;0.268;0.433	T	0.44877	-0.9299	10	0.87932	D	0	-8.3623	12.3102	0.54924	0.0:0.9156:0.0:0.0844	.	50;50;50;50	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	V	50	ENSP00000265755:A50V;ENSP00000397566:A50V;ENSP00000408477:A50V;ENSP00000418383:A50V	ENSP00000265755:A50V	A	+	2	0	GTF2IRD1	73565121	1.000000	0.71417	0.437000	0.26809	0.902000	0.53008	7.010000	0.76353	1.211000	0.43351	0.650000	0.86243	GCC		0.602	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328	
DLX5	1749	hgsc.bcm.edu	37	7	96653617	96653617	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:96653617C>T	ENST00000222598.4	-	1	792	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	DLX5_ENST00000493764.1_5'UTR|DLX5_ENST00000486603.2_Missense_Mutation_p.A107T	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	107					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	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)|transcription regulatory region DNA binding (GO:0044212)	p.A107T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CGGTTGTAGGCGCCGCCGTAC	0.632																																					p.A107T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G319A	7						.						46.0	43.0	44.0					7																	96653617		2203	4300	6503	96491553	SO:0001583	missense	1749	exon1				CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"""Homeoboxes / ANTP class : NKL subclass"""	2918	protein-coding gene	gene with protein product		600028	"""distal-less homeo box 5"""			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.319G>A	7.37:g.96653617C>T	ENSP00000222598:p.Ala107Thr		96491553	NM_005221	B7Z4P3|Q9UPL1	Missense_Mutation	SNP	ENST00000222598.4	37	CCDS5647.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592774	0.46214	.	.	ENSG00000105880	ENST00000222598	D	0.89681	-2.55	4.97	4.97	0.65823	.	0.052776	0.85682	D	0.000000	T	0.77412	0.4126	N	0.14661	0.345	0.50813	D	0.999896	P;B	0.39847	0.691;0.006	B;B	0.28465	0.09;0.015	T	0.77531	-0.2553	10	0.18710	T	0.47	-9.679	18.4442	0.90678	0.0:1.0:0.0:0.0	.	107;107	B7Z4P3;P56178	.;DLX5_HUMAN	T	107	ENSP00000222598:A107T	ENSP00000222598:A107T	A	-	1	0	DLX5	96491553	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.147000	0.64851	2.583000	0.87209	0.561000	0.74099	GCC		0.632	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2		
PDAP1	11333	hgsc.bcm.edu	37	7	98995497	98995497	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:98995497C>A	ENST00000350498.3	-	5	755	c.475G>T	c.(475-477)Gag>Tag	p.E159*	PDAP1_ENST00000496335.1_5'UTR	NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	159					cell proliferation (GO:0008283)|signal transduction (GO:0007165)		poly(A) RNA binding (GO:0044822)	p.E159*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TTCCTTTCCTCTTCCTTCTTC	0.627																																					p.E159X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G475T	7						.						88.0	77.0	80.0					7																	98995497		2203	4300	6503	98833433	SO:0001587	stop_gained	11333	exon5			U41745	CCDS5662.1	7q	2008-07-18			ENSG00000106244	ENSG00000106244			14634	protein-coding gene	gene with protein product	"""PDGF associated protein"""	607075				8780057	Standard	NM_014891		Approved	PAP1, PAP, HASPP28	uc003uqe.3	Q13442	OTTHUMG00000154629	ENST00000350498.3:c.475G>T	7.37:g.98995497C>A	ENSP00000222968:p.Glu159*		98833433	NM_014891	D6W5S5|Q92906	Nonsense_Mutation	SNP	ENST00000350498.3	37	CCDS5662.1	.	.	.	.	.	.	.	.	.	.	C	38	7.204795	0.98132	.	.	ENSG00000106244	ENST00000350498	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-26.4492	18.9358	0.92584	0.0:1.0:0.0:0.0	.	.	.	.	X	159	.	ENSP00000222968:E159X	E	-	1	0	PDAP1	98833433	1.000000	0.71417	0.992000	0.48379	0.863000	0.49368	5.959000	0.70339	2.553000	0.86117	0.650000	0.86243	GAG		0.627	PDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336388.2	NM_014891	
ZKSCAN1	7586	hgsc.bcm.edu	37	7	99631696	99631696	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:99631696G>A	ENST00000324306.6	+	6	1802	c.1568G>A	c.(1567-1569)gGc>gAc	p.G523D	ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.G310D|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.G487D	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	523					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.G523D(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ACTAAGTGTGGCAAGGCCTTC	0.502																																					p.G523D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1568A	7						.						78.0	76.0	76.0					7																	99631696		2203	4300	6503	99469632	SO:0001583	missense	7586	exon6			X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13101	protein-coding gene	gene with protein product		601260	"""zinc finger protein 36 (KOX 18)"""	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.1568G>A	7.37:g.99631696G>A	ENSP00000323148:p.Gly523Asp		99469632	NM_003439	A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Missense_Mutation	SNP	ENST00000324306.6	37	CCDS34698.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712383	0.89112	.	.	ENSG00000106261	ENST00000324306;ENST00000426572;ENST00000535170	T;T;T	0.79454	-1.27;-1.27;-1.27	4.96	4.96	0.65561	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000021	D	0.83394	0.5245	L	0.41027	1.25	0.54753	D	0.999981	D	0.89917	1.0	D	0.79784	0.993	D	0.84821	0.0796	10	0.87932	D	0	.	16.112	0.81271	0.0:0.0:1.0:0.0	.	523	P17029	ZKSC1_HUMAN	D	523;487;310	ENSP00000323148:G523D;ENSP00000409172:G487D;ENSP00000443508:G310D	ENSP00000323148:G523D	G	+	2	0	ZKSCAN1	99469632	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.503000	0.66962	2.743000	0.94032	0.563000	0.77884	GGC		0.502	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439	
TAF6	6878	hgsc.bcm.edu	37	7	99711369	99711369	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:99711369C>A	ENST00000344095.4	-	4	792	c.267G>T	c.(265-267)caG>caT	p.Q89H	TAF6_ENST00000437822.2_Missense_Mutation_p.Q126H|RP11-506M12.1_ENST00000494221.1_RNA|TAF6_ENST00000453269.2_Missense_Mutation_p.Q89H|TAF6_ENST00000418432.2_Missense_Mutation_p.Q32H|TAF6_ENST00000472509.1_Missense_Mutation_p.Q146H|TAF6_ENST00000497233.1_5'Flank|TAF6_ENST00000452041.1_Missense_Mutation_p.Q89H	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	89					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q89H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAATGAACTCCTGGGCGTGGA	0.597																																					p.Q89H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G267T	7						.						36.0	38.0	37.0					7																	99711369		2203	4300	6503	99549305	SO:0001583	missense	6878	exon4				CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.267G>T	7.37:g.99711369C>A	ENSP00000344537:p.Gln89His		99549305	NM_005641	A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Missense_Mutation	SNP	ENST00000344095.4	37	CCDS5686.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942246	0.53079	.	.	ENSG00000106290	ENST00000453269;ENST00000472509;ENST00000452041;ENST00000344095;ENST00000418432;ENST00000437822;ENST00000493322;ENST00000440225;ENST00000452438;ENST00000523306;ENST00000449571;ENST00000520135;ENST00000451699	T;T;T;T;T;T;T;T;T;T;T;T	0.45276	0.92;0.9;0.92;0.92;0.9;0.93;0.93;0.92;0.92;0.93;0.91;0.9	5.72	5.72	0.89469	.	0.233816	0.44285	D	0.000463	T	0.39118	0.1066	N	0.21373	0.66	0.47862	D	0.999538	P;P;P;B;B;P	0.46912	0.717;0.886;0.818;0.008;0.009;0.818	B;P;B;B;B;B	0.46940	0.332;0.532;0.332;0.017;0.007;0.332	T	0.14254	-1.0479	10	0.44086	T	0.13	-20.0961	17.4318	0.87541	0.0:1.0:0.0:0.0	.	126;89;79;89;89;32	B4DT11;P49848-2;A4D299;P49848;C9JTY6;B3KUR4	.;.;.;TAF6_HUMAN;.;.	H	89;146;89;89;32;126;89;89;89;79;89;79;89	ENSP00000389575:Q89H;ENSP00000419760:Q146H;ENSP00000416396:Q89H;ENSP00000344537:Q89H;ENSP00000399982:Q126H;ENSP00000419555:Q89H;ENSP00000410012:Q89H;ENSP00000412346:Q89H;ENSP00000428639:Q79H;ENSP00000390073:Q89H;ENSP00000428071:Q79H;ENSP00000406315:Q89H	ENSP00000344537:Q89H	Q	-	3	2	TAF6	99549305	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	0.835000	0.27531	2.710000	0.92621	0.558000	0.71614	CAG		0.597	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641	
PTPRN2	5799	hgsc.bcm.edu	37	7	157414128	157414128	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr7:157414128G>A	ENST00000389418.4	-	15	2279	c.2270C>T	c.(2269-2271)gCg>gTg	p.A757V	PTPRN2_ENST00000389416.4_Missense_Mutation_p.A740V|PTPRN2_ENST00000409483.1_Missense_Mutation_p.A719V|PTPRN2_ENST00000404321.2_Missense_Mutation_p.A780V|PTPRN2_ENST00000389413.3_Missense_Mutation_p.A728V	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	757	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A757V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GTTGGGCTCCGCCTGGTAGGC	0.627																																					p.A728V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2183T	7						.						188.0	176.0	180.0					7																	157414128		2203	4300	6503	157106889	SO:0001583	missense	5799	exon14			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2270C>T	7.37:g.157414128G>A	ENSP00000374069:p.Ala757Val		157106889	NM_130843	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906438	0.92107	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59	4.94	4.94	0.65067	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.64402	D	0.000012	T	0.31513	0.0799	L	0.42529	1.33	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.998;0.997;1.0;0.996	P;P;P;D;P	0.80764	0.886;0.563;0.747;0.994;0.563	T	0.03795	-1.1003	10	0.87932	D	0	.	17.7975	0.88577	0.0:0.0:1.0:0.0	.	780;719;728;740;757	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	V	719;728;740;757;780	ENSP00000387114:A719V;ENSP00000374064:A728V;ENSP00000374067:A740V;ENSP00000374069:A757V;ENSP00000385464:A780V	ENSP00000374064:A728V	A	-	2	0	PTPRN2	157106889	1.000000	0.71417	0.995000	0.50966	0.800000	0.45204	8.739000	0.91574	2.277000	0.76020	0.557000	0.71058	GCG		0.627	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1		
DEFB129	140881	hgsc.bcm.edu	37	20	209957	209957	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr20:209957A>G	ENST00000246105.4	+	2	128	c.97A>G	c.(97-99)Aga>Gga	p.R33G		NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	defensin, beta 129	33					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.R33G(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			GGGTTTGGGGAGATGCAGGGA	0.348																																					p.R33G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A97G	20						.						96.0	98.0	97.0					20																	209957		2203	4300	6503	157957	SO:0001583	missense	140881	exon2			AY358186	CCDS12992.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125903	ENSG00000125903		"""Defensins, beta"""	16218	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 87"""	C20orf87		11854508	Standard	NM_080831		Approved	bA530N10.3, DEFB-29	uc002wda.3	Q9H1M3	OTTHUMG00000031618	ENST00000246105.4:c.97A>G	20.37:g.209957A>G	ENSP00000246105:p.Arg33Gly		157957	NM_080831	Q8NES7	Missense_Mutation	SNP	ENST00000246105.4	37	CCDS12992.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.703487	0.48412	.	.	ENSG00000125903	ENST00000246105	T	0.13307	2.6	4.5	4.5	0.54988	.	0.575111	0.16217	N	0.224205	T	0.19248	0.0462	L	0.29908	0.895	0.25604	N	0.986564	D	0.59767	0.986	P	0.56563	0.801	T	0.03673	-1.1014	10	0.72032	D	0.01	-10.0544	10.4905	0.44748	1.0:0.0:0.0:0.0	.	33	Q9H1M3	DB129_HUMAN	G	33	ENSP00000246105:R33G	ENSP00000246105:R33G	R	+	1	2	DEFB129	157957	0.995000	0.38212	0.987000	0.45799	0.294000	0.27393	3.332000	0.52083	2.253000	0.74438	0.455000	0.32223	AGA		0.348	DEFB129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077430.2	NM_080831	
SNRPB2	6629	hgsc.bcm.edu	37	20	16717933	16717933	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr20:16717933G>T	ENST00000246071.6	+	4	481	c.265G>T	c.(265-267)Gat>Tat	p.D89Y	SNRPB2_ENST00000377943.5_Missense_Mutation_p.D89Y	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B	89					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	nucleotide binding (GO:0000166)|snRNA binding (GO:0017069)	p.D89Y(1)		large_intestine(2)|lung(2)|urinary_tract(1)	5						AACAGATTCGGATATAATATC	0.313																																					p.D89Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G265T	20						.						57.0	55.0	56.0					20																	16717933		2203	4300	6503	16665933	SO:0001583	missense	6629	exon4				CCDS13123.1	20p12.1	2013-02-12	2010-07-07		ENSG00000125870	ENSG00000125870		"""RNA binding motif (RRM) containing"""	11155	protein-coding gene	gene with protein product		603520	"""small nuclear ribonucleoprotein polypeptide B2"", ""small nuclear ribonucleoprotein polypeptide B''"""			2951739	Standard	NM_198220		Approved	Msl1	uc002wpi.2	P08579	OTTHUMG00000031933	ENST00000246071.6:c.265G>T	20.37:g.16717933G>T	ENSP00000246071:p.Asp89Tyr		16665933	NM_003092	B2R7J3|D3DW21|Q9UJD4	Missense_Mutation	SNP	ENST00000246071.6	37	CCDS13123.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652923	0.88056	.	.	ENSG00000125870	ENST00000377943;ENST00000246071	T;T	0.06142	3.34;3.34	5.92	5.92	0.95590	Nucleotide-binding, alpha-beta plait (1);	0.042919	0.85682	D	0.000000	T	0.30916	0.0780	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.00742	-1.1585	10	0.54805	T	0.06	-30.6017	20.3248	0.98698	0.0:0.0:1.0:0.0	.	89	P08579	RU2B_HUMAN	Y	89	ENSP00000367178:D89Y;ENSP00000246071:D89Y	ENSP00000246071:D89Y	D	+	1	0	SNRPB2	16665933	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	8.910000	0.92685	2.818000	0.97014	0.655000	0.94253	GAT		0.313	SNRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078110.1	NM_003092	
RRBP1	6238	hgsc.bcm.edu	37	20	17597451	17597451	+	Missense_Mutation	SNP	C	C	T	rs547251626		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr20:17597451C>T	ENST00000377813.1	-	21	4096	c.3793G>A	c.(3793-3795)Gta>Ata	p.V1265I	RRBP1_ENST00000246043.4_Missense_Mutation_p.V1265I|RRBP1_ENST00000377807.2_Missense_Mutation_p.V832I|RRBP1_ENST00000360807.4_Missense_Mutation_p.V832I|RRBP1_ENST00000455029.2_Missense_Mutation_p.V606I|RRBP1_ENST00000470422.1_5'UTR			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1265					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)	p.V832I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CCATCCTCTACGTGGCTCTTC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		17637	0.0		0.0	False		,,,				2504	0.001				p.V832I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2494A	20						.						122.0	111.0	115.0					20																	17597451		2203	4300	6503	17545451	SO:0001583	missense	6238	exon22			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.3793G>A	20.37:g.17597451C>T	ENSP00000367044:p.Val1265Ile		17545451	NM_001042576	A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37		.	.	.	.	.	.	.	.	.	.	C	18.68	3.675418	0.67928	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.47	4.53	0.55603	.	0.485936	0.15390	N	0.264887	T	0.43122	0.1233	M	0.71581	2.175	0.44048	D	0.996786	D;D	0.69078	0.997;0.983	P;B	0.53689	0.732;0.307	T	0.24083	-1.0170	10	0.20046	T	0.44	-12.4237	11.4426	0.50105	0.0:0.9171:0.0:0.0829	.	832;1265	Q9P2E9-3;Q9P2E9	.;RRBP1_HUMAN	I	832;1265;832;1265;606	ENSP00000354045:V832I;ENSP00000367044:V1265I;ENSP00000367038:V832I;ENSP00000246043:V1265I;ENSP00000401206:V606I	ENSP00000246043:V1265I	V	-	1	0	RRBP1	17545451	0.990000	0.36364	1.000000	0.80357	0.988000	0.76386	2.725000	0.47294	1.332000	0.45431	0.561000	0.74099	GTA		0.612	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576	
SNX5	27131	hgsc.bcm.edu	37	20	17933235	17933235	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr20:17933235T>C	ENST00000377768.3	-	6	821	c.509A>G	c.(508-510)cAg>cGg	p.Q170R	SNX5_ENST00000483485.1_5'UTR|SNX5_ENST00000377759.4_Missense_Mutation_p.Q170R	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	170	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)	p.Q170R(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						CCTTACATCCTGATCATATTC	0.348																																					p.Q170R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A509G	20						.						68.0	65.0	66.0					20																	17933235		2203	4300	6503	17881235	SO:0001583	missense	27131	exon6			AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"""Sorting nexins"""	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953	ENST00000377768.3:c.509A>G	20.37:g.17933235T>C	ENSP00000366998:p.Gln170Arg		17881235	NM_152227	B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Missense_Mutation	SNP	ENST00000377768.3	37	CCDS13130.1	.	.	.	.	.	.	.	.	.	.	T	18.80	3.700415	0.68501	.	.	ENSG00000089006	ENST00000377768;ENST00000377759;ENST00000431277;ENST00000419004	T;T;T;T	0.32988	2.43;2.43;1.43;1.83	5.66	5.66	0.87406	Phox homologous domain (3);	0.000000	0.85682	D	0.000000	T	0.45895	0.1365	M	0.88704	2.975	0.80722	D	1	P;B	0.37997	0.614;0.071	B;B	0.39185	0.293;0.046	T	0.53989	-0.8360	10	0.51188	T	0.08	.	16.1988	0.82053	0.0:0.0:0.0:1.0	.	191;170	B7Z476;Q9Y5X3	.;SNX5_HUMAN	R	170;170;133;135	ENSP00000366998:Q170R;ENSP00000366988:Q170R;ENSP00000404448:Q133R;ENSP00000406731:Q135R	ENSP00000366988:Q170R	Q	-	2	0	SNX5	17881235	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.985000	0.88162	2.284000	0.76573	0.528000	0.53228	CAG		0.348	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078137.4		
PTPRA	5786	hgsc.bcm.edu	37	20	3016247	3016247	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr20:3016247A>G	ENST00000216877.6	+	20	2310	c.1910A>G	c.(1909-1911)tAc>tGc	p.Y637C	PTPRA_ENST00000356147.3_Missense_Mutation_p.Y637C|PTPRA_ENST00000318266.5_Missense_Mutation_p.Y637C|PTPRA_ENST00000380393.3_Missense_Mutation_p.Y646C|PTPRA_ENST00000425918.2_Missense_Mutation_p.Y657C|PTPRA_ENST00000358719.4_Missense_Mutation_p.Y502C|PTPRA_ENST00000399903.2_Missense_Mutation_p.Y646C	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	646	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.Y646C(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGTGCCCAGTACTGGCCATCT	0.552																																					p.Y637C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1910G	20						.						95.0	82.0	86.0					20																	3016247		2203	4300	6503	2964247	SO:0001583	missense	5786	exon20				CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.1910A>G	20.37:g.3016247A>G	ENSP00000216877:p.Tyr637Cys		2964247	NM_080840	A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	A	18.99	3.740519	0.69304	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	D;D;D;D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29	5.57	4.47	0.54385	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.070655	0.64402	U	0.000016	D	0.98018	0.9347	H	0.98965	4.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.983;0.997	D	0.97909	1.0307	10	0.87932	D	0	.	12.0315	0.53399	0.8706:0.0:0.0:0.1294	.	657;646;637	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	C	646;637;646;502;256;657;637;637	ENSP00000369756:Y646C;ENSP00000216877:Y637C;ENSP00000382787:Y646C;ENSP00000351559:Y502C;ENSP00000393553:Y657C;ENSP00000314568:Y637C;ENSP00000348468:Y637C	ENSP00000216877:Y637C	Y	+	2	0	PTPRA	2964247	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.339000	0.96797	0.915000	0.36847	0.460000	0.39030	TAC		0.552	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3		
CRNKL1	51340	hgsc.bcm.edu	37	20	20028526	20028526	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr20:20028526G>A	ENST00000377340.2	-	6	1019	c.988C>T	c.(988-990)Cgg>Tgg	p.R330W	CRNKL1_ENST00000536226.1_Missense_Mutation_p.R169W|CRNKL1_ENST00000377327.4_Missense_Mutation_p.R318W	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	330					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R330W(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						AACACCTGCCGGGCACCGGCA	0.512																																					p.R330W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C988T	20						.						74.0	70.0	71.0					20																	20028526		2203	4300	6503	19976526	SO:0001583	missense	51340	exon6			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.988C>T	20.37:g.20028526G>A	ENSP00000366557:p.Arg330Trp		19976526	NM_016652	A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	ENST00000377340.2	37	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627217	0.87560	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.59083	0.29;0.29;0.29	5.93	5.93	0.95920	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.048433	0.85682	N	0.000000	D	0.84986	0.5594	H	0.96547	3.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88760	0.3256	10	0.87932	D	0	-19.0254	20.3368	0.98748	0.0:0.0:1.0:0.0	.	318;330	Q5JY65;Q9BZJ0	.;CRNL1_HUMAN	W	318;330;169	ENSP00000366544:R318W;ENSP00000366557:R330W;ENSP00000440733:R169W	ENSP00000366544:R318W	R	-	1	2	CRNKL1	19976526	1.000000	0.71417	0.985000	0.45067	0.981000	0.71138	4.226000	0.58606	2.805000	0.96524	0.655000	0.94253	CGG		0.512	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1		
XKR7	343702	hgsc.bcm.edu	37	20	30556177	30556177	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr20:30556177T>C	ENST00000562532.2	+	1	373	c.199T>C	c.(199-201)Ttc>Ctc	p.F67L		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	67						integral component of membrane (GO:0016021)		p.F67L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCTGCTCGTGTTCTTCTCCGA	0.716																																					p.F67L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T199C	20						.						61.0	52.0	55.0					20																	30556177		2203	4300	6503	30019838	SO:0001583	missense	343702	exon1			AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.199T>C	20.37:g.30556177T>C	ENSP00000477059:p.Phe67Leu		30019838	NM_001011718	Q9NUG5	Missense_Mutation	SNP	ENST00000562532.2	37	CCDS33459.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.523618	0.85600	.	.	ENSG00000101321	ENST00000217299	T	0.64438	-0.1	3.24	3.24	0.37175	.	0.000000	0.64402	D	0.000004	T	0.73682	0.3618	M	0.66439	2.03	0.48975	D	0.999734	D	0.76494	0.999	D	0.79108	0.992	T	0.75199	-0.3402	10	0.62326	D	0.03	0.0784	9.8275	0.40921	0.0:0.0:0.0:1.0	.	67	Q5GH72	XKR7_HUMAN	L	67	ENSP00000217299:F67L	ENSP00000217299:F67L	F	+	1	0	XKR7	30019838	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.244000	0.65400	1.482000	0.48325	0.519000	0.50382	TTC		0.716	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718	
DDRGK1	65992	hgsc.bcm.edu	37	20	3180685	3180685	+	Missense_Mutation	SNP	T	T	C	rs147976775		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr20:3180685T>C	ENST00000354488.3	-	4	529	c.472A>G	c.(472-474)Aag>Gag	p.K158E	DDRGK1_ENST00000380201.2_Missense_Mutation_p.K158E	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	158						endoplasmic reticulum (GO:0005783)		p.K158E(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						TCCTCCTCCTTCTTCCACTCA	0.612																																					p.K158E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A472G	20						.	T	GLU/LYS	0,4406		0,0,2203	94.0	74.0	81.0		472	5.3	1.0	20	dbSNP_134	81	1,8599		0,1,4299	no	missense	DDRGK1	NM_023935.1	56	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	158/315	3180685	1,13005	2203	4300	6503	3128685	SO:0001583	missense	65992	exon4			AL121891	CCDS13050.1	20p13	2011-08-18	2008-10-03	2008-10-03	ENSG00000198171	ENSG00000198171			16110	protein-coding gene	gene with protein product	"""Dashurin"""		"""chromosome 20 open reading frame 116"""	C20orf116		20036718, 20228063, 21494687	Standard	NM_023935		Approved	dJ1187M17.3	uc002wic.3	Q96HY6	OTTHUMG00000031732	ENST00000354488.3:c.472A>G	20.37:g.3180685T>C	ENSP00000346483:p.Lys158Glu		3128685	NM_023935	A6NIU5|C9JSZ5|Q9BW47	Missense_Mutation	SNP	ENST00000354488.3	37	CCDS13050.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.547501	0.86022	0.0	1.16E-4	ENSG00000198171	ENST00000354488;ENST00000380213;ENST00000380201	T	0.51325	0.71	5.35	5.35	0.76521	.	0.152994	0.64402	D	0.000020	T	0.63367	0.2505	M	0.66939	2.045	0.51233	D	0.999913	D;D	0.69078	0.996;0.997	D;D	0.79108	0.99;0.992	T	0.61148	-0.7121	10	0.27082	T	0.32	-38.4868	11.7287	0.51724	0.0:0.0:0.0:1.0	.	158;158	Q96HY6-2;Q96HY6	.;DDRGK_HUMAN	E	158	ENSP00000346483:K158E	ENSP00000346483:K158E	K	-	1	0	DDRGK1	3128685	1.000000	0.71417	0.992000	0.48379	0.925000	0.55904	4.510000	0.60455	2.025000	0.59659	0.533000	0.62120	AAG		0.612	DDRGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077709.2	NM_023935	
ATRN	8455	hgsc.bcm.edu	37	20	3556504	3556504	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr20:3556504C>T	ENST00000262919.5	+	13	2191	c.2123C>T	c.(2122-2124)aCa>aTa	p.T708I	ATRN_ENST00000446916.2_Missense_Mutation_p.T708I	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	708	PSI 1.				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.T708I(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						GACCAGCACACAGATTGTTAC	0.478																																					p.T708I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2123T	20						.						119.0	106.0	111.0					20																	3556504		2203	4300	6503	3504504	SO:0001583	missense	8455	exon13			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.2123C>T	20.37:g.3556504C>T	ENSP00000262919:p.Thr708Ile		3504504	NM_139322	A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	C	32	5.111247	0.94339	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.20200	3.31;2.09	5.79	5.79	0.91817	.	0.047768	0.85682	D	0.000000	T	0.44138	0.1279	M	0.62723	1.935	0.58432	D	0.999999	P;D	0.76494	0.953;0.999	P;D	0.64410	0.752;0.925	T	0.04678	-1.0934	10	0.34782	T	0.22	-11.9803	19.6379	0.95744	0.0:1.0:0.0:0.0	.	708;708	O75882;O75882-2	ATRN_HUMAN;.	I	708;708;634	ENSP00000262919:T708I;ENSP00000416587:T708I	ENSP00000262919:T708I	T	+	2	0	ATRN	3504504	1.000000	0.71417	0.969000	0.41365	0.984000	0.73092	6.056000	0.71111	2.730000	0.93505	0.563000	0.77884	ACA		0.478	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321	
BPIFB3	359710	hgsc.bcm.edu	37	20	31644489	31644489	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr20:31644489T>C	ENST00000375494.3	+	2	266	c.266T>C	c.(265-267)gTc>gCc	p.V89A	AL121756.1_ENST00000579962.1_RNA	NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	89	Leu-rich.				innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.V89A(1)									TTTGGCGTTGTCGAGGAGCTC	0.582																																					p.V89A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T266C	20						.						89.0	84.0	86.0					20																	31644489		2203	4300	6503	31108150	SO:0001583	missense	359710	exon2			AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.266T>C	20.37:g.31644489T>C	ENSP00000364643:p.Val89Ala		31108150	NM_182658	Q5TDX7	Missense_Mutation	SNP	ENST00000375494.3	37	CCDS13212.1	.	.	.	.	.	.	.	.	.	.	T	11.20	1.568788	0.28003	.	.	ENSG00000186190	ENST00000375494	T	0.05649	3.41	4.66	4.66	0.58398	.	0.125134	0.35677	N	0.003058	T	0.15609	0.0376	L	0.47716	1.5	0.09310	N	1	D	0.63046	0.992	D	0.77004	0.989	T	0.07731	-1.0757	10	0.27785	T	0.31	-14.2046	10.3928	0.44184	0.0:0.0:0.0:1.0	.	89	P59826	BPIB3_HUMAN	A	89	ENSP00000364643:V89A	ENSP00000364643:V89A	V	+	2	0	BPIFB3	31108150	0.721000	0.28007	0.012000	0.15200	0.005000	0.04900	2.161000	0.42358	1.944000	0.56390	0.459000	0.35465	GTC		0.582	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658	
TP53TG5	27296	hgsc.bcm.edu	37	20	44004050	44004050	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr20:44004050C>T	ENST00000372726.3	-	4	553	c.397G>A	c.(397-399)Gtg>Atg	p.V133M	TP53TG5_ENST00000537995.1_Missense_Mutation_p.V117M|SYS1_ENST00000426004.1_3'UTR|SYS1-DBNDD2_ENST00000452133.1_Intron|TP53TG5_ENST00000494455.1_5'Flank|SYS1-DBNDD2_ENST00000475242.1_Intron	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	133					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V133M(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						CCTGACTGCACCTGGGACTTC	0.502																																					p.V133M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G397A	20						.						232.0	236.0	235.0					20																	44004050		2203	4300	6503	43437464	SO:0001583	missense	27296	exon4			AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 10"""	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.397G>A	20.37:g.44004050C>T	ENSP00000361811:p.Val133Met		43437464	NM_014477		Missense_Mutation	SNP	ENST00000372726.3	37	CCDS13352.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.528749	0.44969	.	.	ENSG00000124251	ENST00000372726;ENST00000537995	T;T	0.16324	2.35;2.35	4.7	1.6	0.23607	.	0.889113	0.09335	N	0.816255	T	0.27205	0.0667	L	0.42245	1.32	0.09310	N	1	D	0.58268	0.982	P	0.60012	0.867	T	0.15464	-1.0436	10	0.66056	D	0.02	-1.1216	6.8298	0.23902	0.0:0.5457:0.3578:0.0965	.	133	Q9Y2B4	T53G5_HUMAN	M	133;117	ENSP00000361811:V133M;ENSP00000438374:V117M	ENSP00000361811:V133M	V	-	1	0	TP53TG5	43437464	0.000000	0.05858	0.003000	0.11579	0.012000	0.07955	-0.362000	0.07602	0.265000	0.21872	0.563000	0.77884	GTG		0.502	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079460.1	NM_014477	
PIGT	51604	hgsc.bcm.edu	37	20	44052967	44052967	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr20:44052967C>T	ENST00000279036.6	+	10	1426	c.1346C>T	c.(1345-1347)gCg>gTg	p.A449V	PIGT_ENST00000543458.2_Missense_Mutation_p.A393V|PIGT_ENST00000535404.1_Missense_Mutation_p.A294V|PIGT_ENST00000341555.5_Missense_Mutation_p.A255V|PIGT_ENST00000545755.1_Missense_Mutation_p.A187V|PIGT_ENST00000372689.5_Missense_Mutation_p.A382V|PIGT_ENST00000279035.9_Missense_Mutation_p.A347V	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	449					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)	p.A449V(1)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TTTGAGCGGGCGCTGCTGAAG	0.612																																					p.A347V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1040T	20						.						86.0	81.0	82.0					20																	44052967		2203	4300	6503	43486381	SO:0001583	missense	51604	exon8				CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.1346C>T	20.37:g.44052967C>T	ENSP00000279036:p.Ala449Val		43486381	NM_001184730	B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Missense_Mutation	SNP	ENST00000279036.6	37	CCDS13353.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797375	0.50208	.	.	ENSG00000124155	ENST00000543458;ENST00000372689;ENST00000279035;ENST00000279036;ENST00000545755;ENST00000341555;ENST00000535404	T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.62792	0.2457	L	0.58810	1.83	0.80722	D	1	D;P;D;D;D;D;P;P;D;D	0.89917	1.0;0.882;1.0;1.0;0.98;1.0;0.803;0.949;0.978;1.0	D;P;D;D;P;D;B;P;P;D	0.91635	0.999;0.636;0.992;0.999;0.88;0.995;0.267;0.52;0.572;0.994	T	0.56347	-0.7994	10	0.37606	T	0.19	-31.0526	19.211	0.93755	0.0:1.0:0.0:0.0	.	287;347;294;393;187;294;238;187;125;449	B7Z3L1;Q969N2-4;F5GWY0;B7Z3N1;B7ZAP3;B7Z1F1;Q969N2-3;B7Z1N3;B7Z4T7;Q969N2	.;.;.;.;.;.;.;.;.;PIGT_HUMAN	V	393;382;347;449;187;255;294	ENSP00000441577:A393V;ENSP00000361774:A382V;ENSP00000279035:A347V;ENSP00000279036:A449V;ENSP00000443963:A187V;ENSP00000343783:A255V;ENSP00000440528:A294V	ENSP00000279035:A347V	A	+	2	0	PIGT	43486381	1.000000	0.71417	0.965000	0.40720	0.990000	0.78478	7.609000	0.82925	2.789000	0.95967	0.655000	0.94253	GCG		0.612	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937	
ZSWIM1	90204	hgsc.bcm.edu	37	20	44512110	44512110	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr20:44512110G>T	ENST00000372523.1	+	2	974	c.879G>T	c.(877-879)aaG>aaT	p.K293N	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.K293N	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	293						nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.K293N(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				CTGCAGACAAGGCAAACTTCA	0.532																																					p.K293N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G879T	20						.						116.0	109.0	111.0					20																	44512110		2203	4300	6503	43945517	SO:0001583	missense	90204	exon2			AL008726	CCDS13382.2	20q13.12	2013-09-20	2003-12-17	2003-12-19	ENSG00000168612	ENSG00000168612		"""Zinc fingers, SWIM-type"""	16155	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 162"""	C20orf162			Standard	NM_080603		Approved	dJ337O18.5	uc010ghi.3	Q9BR11	OTTHUMG00000074023	ENST00000372523.1:c.879G>T	20.37:g.44512110G>T	ENSP00000361601:p.Lys293Asn		43945517	NM_080603	Q5JZH2|Q9BR12|Q9BV30	Missense_Mutation	SNP	ENST00000372523.1	37	CCDS13382.2	.	.	.	.	.	.	.	.	.	.	G	0.047	-1.263659	0.01433	.	.	ENSG00000168612	ENST00000372523;ENST00000372520	T;T	0.25250	1.81;1.81	5.03	1.25	0.21368	.	1.061000	0.07422	U	0.894222	T	0.13243	0.0321	N	0.19112	0.55	0.09310	N	1	P	0.35433	0.501	B	0.29785	0.107	T	0.24764	-1.0151	10	0.27785	T	0.31	-3.2827	4.2279	0.10589	0.4315:0.0:0.4117:0.1567	.	293	Q9BR11	ZSWM1_HUMAN	N	293	ENSP00000361601:K293N;ENSP00000361598:K293N	ENSP00000361598:K293N	K	+	3	2	ZSWIM1	43945517	0.896000	0.30565	0.627000	0.29227	0.113000	0.19764	0.600000	0.24104	0.477000	0.27464	-0.136000	0.14681	AAG		0.532	ZSWIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157064.2	NM_080603	
PCIF1	63935	hgsc.bcm.edu	37	20	44574917	44574917	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr20:44574917C>T	ENST00000372409.3	+	14	1871	c.1507C>T	c.(1507-1509)Cga>Tga	p.R503*	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	503					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.R503*(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						GGCCCTCCACCGACTCTTTGG	0.617																																					p.R503X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1507T	20						.						113.0	104.0	107.0					20																	44574917		2203	4300	6503	44008324	SO:0001587	stop_gained	63935	exon14			AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.1507C>T	20.37:g.44574917C>T	ENSP00000361486:p.Arg503*		44008324	NM_022104	E1P5P1|Q54AB9|Q9NT85	Nonsense_Mutation	SNP	ENST00000372409.3	37	CCDS13388.1	.	.	.	.	.	.	.	.	.	.	C	40	8.095787	0.98651	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	4.96	1.63	0.23807	.	0.286875	0.28595	N	0.014785	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7038	13.2576	0.60087	0.6141:0.3859:0.0:0.0	.	.	.	.	X	503	.	ENSP00000361486:R503X	R	+	1	2	PCIF1	44008324	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	1.948000	0.40303	0.605000	0.29947	0.462000	0.41574	CGA		0.617	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104	
CDH22	64405	hgsc.bcm.edu	37	20	44845623	44845623	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr20:44845623C>T	ENST00000372262.3	-	4	1080	c.680G>A	c.(679-681)cGg>cAg	p.R227Q	CDH22_ENST00000537909.1_Missense_Mutation_p.R227Q|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	227	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R227Q(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CACAGCCGTCCGGATTACGCC	0.657																																					p.R227Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G680A	20						.						84.0	66.0	72.0					20																	44845623		2203	4300	6503	44279030	SO:0001583	missense	64405	exon4			AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.680G>A	20.37:g.44845623C>T	ENSP00000361336:p.Arg227Gln		44279030	NM_021248	B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	c	20.2	3.954698	0.73902	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.52057	0.68;0.68	4.06	4.06	0.47325	Cadherin (4);Cadherin-like (1);	0.064397	0.64402	D	0.000010	T	0.62925	0.2468	M	0.68728	2.09	0.34833	D	0.739864	D	0.89917	1.0	P	0.60286	0.872	T	0.75587	-0.3266	10	0.62326	D	0.03	.	15.8229	0.78673	0.0:1.0:0.0:0.0	.	227	Q9UJ99	CAD22_HUMAN	Q	227	ENSP00000361336:R227Q;ENSP00000437790:R227Q	ENSP00000361336:R227Q	R	-	2	0	CDH22	44279030	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	2.987000	0.49378	2.276000	0.75962	0.537000	0.68136	CGG		0.657	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248	
SLC23A2	9962	hgsc.bcm.edu	37	20	4864366	4864366	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr20:4864366G>T	ENST00000379333.1	-	9	1138	c.746C>A	c.(745-747)cCc>cAc	p.P249H	SLC23A2_ENST00000338244.1_Missense_Mutation_p.P249H|snoU13_ENST00000516249.1_RNA|SLC23A2_ENST00000424750.2_Intron|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	249					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.P249H(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGCCACCGTGGGTGTAATGGT	0.587																																					p.P249H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C746A	20						.						91.0	88.0	89.0					20																	4864366		2203	4300	6503	4812366	SO:0001583	missense	9962	exon9			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.746C>A	20.37:g.4864366G>T	ENSP00000368637:p.Pro249His		4812366	NM_203327	B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	ENST00000379333.1	37	CCDS13085.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811165	0.70797	.	.	ENSG00000089057	ENST00000379333;ENST00000338244	T;T	0.20332	2.08;2.08	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.61048	0.2316	H	0.95437	3.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.72721	-0.4208	10	0.87932	D	0	-26.5434	17.9771	0.89130	0.0:0.0:1.0:0.0	.	249;249	A0MSJ5;Q9UGH3	.;S23A2_HUMAN	H	249	ENSP00000368637:P249H;ENSP00000344322:P249H	ENSP00000344322:P249H	P	-	2	0	SLC23A2	4812366	1.000000	0.71417	0.984000	0.44739	0.142000	0.21351	9.629000	0.98417	2.826000	0.97356	0.655000	0.94253	CCC		0.587	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1		
CDH22	64405	hgsc.bcm.edu	37	20	44869742	44869742	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr20:44869742G>A	ENST00000372262.3	-	2	810	c.410C>T	c.(409-411)gCc>gTc	p.A137V	CDH22_ENST00000537909.1_Missense_Mutation_p.A137V	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	137	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A137V(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CCGAGCCTGGGCCCGCAGCGT	0.617																																					p.A137V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C410T	20						.						81.0	67.0	72.0					20																	44869742		2203	4300	6503	44303149	SO:0001583	missense	64405	exon2			AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.410C>T	20.37:g.44869742G>A	ENSP00000361336:p.Ala137Val		44303149	NM_021248	B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138076	0.94560	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.48836	0.8;0.8	4.21	4.21	0.49690	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.57489	0.2057	L	0.28740	0.885	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63193	-0.6692	10	0.87932	D	0	.	16.127	0.81402	0.0:0.0:1.0:0.0	.	137	Q9UJ99	CAD22_HUMAN	V	137	ENSP00000361336:A137V;ENSP00000437790:A137V	ENSP00000361336:A137V	A	-	2	0	CDH22	44303149	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.263000	0.95617	2.364000	0.80123	0.455000	0.32223	GCC		0.617	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248	
BMP7	655	hgsc.bcm.edu	37	20	55758860	55758860	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr20:55758860C>T	ENST00000395863.3	-	4	1381	c.876G>A	c.(874-876)cgG>cgA	p.R292R	BMP7_ENST00000450594.2_Silent_p.R292R|BMP7_ENST00000395864.3_Intron|BMP7_ENST00000460817.1_5'UTR	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	292					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|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 localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)	p.R292R(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			TCCCCGTGGACCGGATGCTGC	0.637																																					p.R292R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G876A	20						.						77.0	68.0	71.0					20																	55758860		2203	4300	6503	55192267	SO:0001819	synonymous_variant	655	exon4				CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1074	protein-coding gene	gene with protein product	"""osteogenic protein 1"""	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.876G>A	20.37:g.55758860C>T			55192267	NM_001719	Q9H512|Q9NTQ7	Silent	SNP	ENST00000395863.3	37	CCDS13455.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.601531	0.28534	.	.	ENSG00000101144	ENST00000433911	.	.	.	5.48	-3.9	0.04181	.	.	.	.	.	T	0.55609	0.1931	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55198	-0.8178	4	.	.	.	.	11.9589	0.52997	0.1471:0.1269:0.664:0.062	.	.	.	.	I	214	.	.	V	-	1	0	BMP7	55192267	0.989000	0.36119	0.759000	0.31340	0.973000	0.67179	0.213000	0.17521	-0.766000	0.04639	0.643000	0.83706	GTC		0.637	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2		
TUBB1	81027	hgsc.bcm.edu	37	20	57599407	57599407	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr20:57599407C>T	ENST00000217133.1	+	4	1194	c.925C>T	c.(925-927)Cgc>Tgc	p.R309C		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	309					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R309C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CCGCCGTGGCCGCTACCTCAC	0.622																																					p.R309C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C925T	20						.						52.0	44.0	47.0					20																	57599407		2203	4300	6503	57032802	SO:0001583	missense	81027	exon4			AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.925C>T	20.37:g.57599407C>T	ENSP00000217133:p.Arg309Cys		57032802	NM_030773		Missense_Mutation	SNP	ENST00000217133.1	37	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005785	0.93287	.	.	ENSG00000101162	ENST00000217133	D	0.81996	-1.56	5.41	5.41	0.78517	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94258	0.8156	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95839	0.8864	10	0.87932	D	0	.	18.1557	0.89690	0.0:1.0:0.0:0.0	.	309	Q9H4B7	TBB1_HUMAN	C	309	ENSP00000217133:R309C	ENSP00000217133:R309C	R	+	1	0	TUBB1	57032802	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.985000	0.70556	2.545000	0.85829	0.561000	0.74099	CGC		0.622	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773	
LRRN4	164312	hgsc.bcm.edu	37	20	6022799	6022799	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr20:6022799G>A	ENST00000378858.4	-	5	1316	c.1092C>T	c.(1090-1092)tcC>tcT	p.S364S		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	364					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.S364S(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						TGCTTTGGTCGGACTGGCACA	0.682																																					p.S364S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1092T	20						.						61.0	53.0	56.0					20																	6022799		2203	4300	6503	5970799	SO:0001819	synonymous_variant	164312	exon5			AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1092C>T	20.37:g.6022799G>A			5970799	NM_152611	A8K258|Q5JWV6|Q9H419	Silent	SNP	ENST00000378858.4	37	CCDS13097.1																																																																																				0.682	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611	
CDH26	60437	hgsc.bcm.edu	37	20	58569392	58569392	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr20:58569392G>A	ENST00000244047.5	+	11	1825	c.1514G>A	c.(1513-1515)cGc>cAc	p.R505H	CDH26_ENST00000244049.3_5'Flank|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000348616.4_Missense_Mutation_p.R505H|CDH26_ENST00000350849.6_5'Flank			Q8IXH8	CAD26_HUMAN	cadherin 26	505					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R505H(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CCACGTTCCCGCTACATGGAG	0.562																																					p.R505H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1514A	20						.						88.0	77.0	81.0					20																	58569392		2203	4300	6503	58002787	SO:0001583	missense	60437	exon11			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1514G>A	20.37:g.58569392G>A	ENSP00000244047:p.Arg505His		58002787	NM_177980	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.74|15.74	2.923931|2.923931	0.52653|0.52653	.|.	.|.	ENSG00000124215|ENSG00000124215	ENST00000370991|ENST00000244047;ENST00000348616	.|T;T	.|0.60920	.|0.15;0.15	4.11|4.11	-0.461|-0.461	0.12172|0.12172	.|Cadherin-like (2);	.|1.155010	.|0.06481	.|N	.|0.732916	T|T	0.53850|0.53850	0.1822|0.1822	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	.|D;D	.|0.56035	.|0.974;0.957	.|P;P	.|0.48795	.|0.59;0.481	T|T	0.46512|0.46512	-0.9186|-0.9186	5|10	.|0.51188	.|T	.|0.08	.|.	4.8279|4.8279	0.13425|0.13425	0.279:0.274:0.447:0.0|0.279:0.274:0.447:0.0	.|.	.|505;505	.|Q8IXH8;Q8IXH8-4	.|CAD26_HUMAN;.	T|H	97|505	.|ENSP00000244047:R505H;ENSP00000339390:R505H	.|ENSP00000244047:R505H	A|R	+|+	1|2	0|0	CDH26|CDH26	58002787|58002787	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.011000|0.011000	0.07611|0.07611	-0.886000|-0.886000	0.04157|0.04157	-0.040000|-0.040000	0.13580|0.13580	0.655000|0.655000	0.94253|0.94253	GCT|CGC		0.562	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980	
DIDO1	11083	hgsc.bcm.edu	37	20	61525181	61525181	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr20:61525181C>T	ENST00000266070.4	-	12	3263	c.2938G>A	c.(2938-2940)Gcc>Acc	p.A980T	DIDO1_ENST00000395343.1_Missense_Mutation_p.A980T|DIDO1_ENST00000395340.1_Missense_Mutation_p.A980T|DIDO1_ENST00000395335.2_Missense_Mutation_p.A980T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	980					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.A980T(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)					GCTGCGGAGGCCACGGCTGTG	0.647																																					p.A980T	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2938A	20						.						92.0	83.0	86.0					20																	61525181		2203	4300	6503	60995626	SO:0001583	missense	11083	exon12			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.2938G>A	20.37:g.61525181C>T	ENSP00000266070:p.Ala980Thr		60995626	NM_001193370	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	8.229	0.804303	0.16467	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.10960	3.15;3.15;2.82;2.82	6.17	0.118	0.14667	.	0.547454	0.15088	N	0.281237	T	0.06462	0.0166	L	0.34521	1.04	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.44772	-0.9306	10	0.09338	T	0.73	-9.9081	7.2137	0.25947	0.1098:0.4351:0.0:0.4551	.	980;980	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	T	980	ENSP00000266070:A980T;ENSP00000378752:A980T;ENSP00000378749:A980T;ENSP00000378744:A980T	ENSP00000266070:A980T	A	-	1	0	DIDO1	60995626	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.178000	0.16820	0.123000	0.18342	-0.137000	0.14449	GCC		0.647	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796	
TMX4	56255	hgsc.bcm.edu	37	20	7963255	7963255	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr20:7963255T>A	ENST00000246024.2	-	8	908	c.693A>T	c.(691-693)agA>agT	p.R231S		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	231	Glu-rich.				cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)	p.R231S(1)		endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						CCTCCTCTGATCTCCGATTCT	0.393																																					p.R231S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A693T	20						.						62.0	55.0	57.0					20																	7963255		2203	4300	6503	7911255	SO:0001583	missense	56255	exon8				CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"""Protein disulfide isomerases"""	25237	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 14"""		"""thioredoxin domain containing 13"""	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.693A>T	20.37:g.7963255T>A	ENSP00000246024:p.Arg231Ser		7911255	NM_021156	Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Missense_Mutation	SNP	ENST00000246024.2	37	CCDS13101.1	.	.	.	.	.	.	.	.	.	.	T	10.43	1.347689	0.24426	.	.	ENSG00000125827	ENST00000246024	T	0.09538	2.97	6.03	-0.459	0.12179	.	0.879864	0.10156	N	0.709029	T	0.05593	0.0147	N	0.25144	0.715	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.43718	-0.9374	10	0.23891	T	0.37	0.2413	1.6368	0.02743	0.1335:0.4421:0.1295:0.295	.	231	Q9H1E5	TMX4_HUMAN	S	231	ENSP00000246024:R231S	ENSP00000246024:R231S	R	-	3	2	TMX4	7911255	0.000000	0.05858	0.000000	0.03702	0.266000	0.26442	-0.434000	0.06939	-0.270000	0.09285	-1.022000	0.02435	AGA		0.393	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	NM_021156	
DIDO1	11083	hgsc.bcm.edu	37	20	61537340	61537340	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr20:61537340G>A	ENST00000266070.4	-	6	1812	c.1487C>T	c.(1486-1488)gCa>gTa	p.A496V	DIDO1_ENST00000370371.4_Missense_Mutation_p.A496V|DIDO1_ENST00000395343.1_Missense_Mutation_p.A496V|DIDO1_ENST00000266071.5_Missense_Mutation_p.A496V|DIDO1_ENST00000354665.4_Missense_Mutation_p.A496V|DIDO1_ENST00000370366.1_Missense_Mutation_p.A496V|DIDO1_ENST00000395340.1_Missense_Mutation_p.A496V|DIDO1_ENST00000370368.1_Missense_Mutation_p.A496V|DIDO1_ENST00000395335.2_Missense_Mutation_p.A496V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	496					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.A496V(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)					CTCACAAGCTGCTTCCTTCCC	0.527																																					p.A496V	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1487T	20						.						141.0	136.0	138.0					20																	61537340		2203	4300	6503	61007785	SO:0001583	missense	11083	exon6			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.1487C>T	20.37:g.61537340G>A	ENSP00000266070:p.Ala496Val		61007785	NM_022105	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.301345	0.23650	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.17691	3.07;3.07;2.72;2.72;2.26;2.26;2.26;2.27;2.27	5.85	4.9	0.64082	.	0.465917	0.15689	U	0.249501	T	0.16981	0.0408	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.15141	0.007;0.012;0.012;0.006	B;B;B;B	0.15052	0.006;0.009;0.012;0.005	T	0.12142	-1.0559	10	0.45353	T	0.12	-10.2009	10.5849	0.45278	0.0693:0.1323:0.7984:0.0	.	496;496;496;496	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	V	496	ENSP00000266070:A496V;ENSP00000378752:A496V;ENSP00000378749:A496V;ENSP00000378744:A496V;ENSP00000359397:A496V;ENSP00000359394:A496V;ENSP00000346692:A496V;ENSP00000359391:A496V;ENSP00000266071:A496V	ENSP00000266070:A496V	A	-	2	0	DIDO1	61007785	0.231000	0.23751	0.051000	0.19133	0.435000	0.31806	2.523000	0.45580	1.475000	0.48197	0.655000	0.94253	GCA		0.527	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796	
AKT1	207	hgsc.bcm.edu	37	14	105241522	105241522	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr14:105241522A>G	ENST00000554581.1	-	5	1938	c.458T>C	c.(457-459)cTg>cCg	p.L153P	AKT1_ENST00000554192.1_5'Flank|AKT1_ENST00000554585.1_5'Flank|AKT1_ENST00000544168.1_Missense_Mutation_p.L91P|AKT1_ENST00000402615.2_Missense_Mutation_p.L153P|AKT1_ENST00000554848.1_Missense_Mutation_p.L153P|AKT1_ENST00000407796.2_Missense_Mutation_p.L153P|AKT1_ENST00000555528.1_Missense_Mutation_p.L153P|AKT1_ENST00000555458.1_5'Flank|AKT1_ENST00000349310.3_Missense_Mutation_p.L153P			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	153	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.L153P(1)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	CAGCAGCTTCAGGTACTCAAA	0.592		1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																p.L153P			Dom	yes		14	14q32.32	207	v-akt murine thymoma viral oncogene homolog 1		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T458C	14						.						71.0	62.0	65.0					14																	105241522		2203	4300	6503	104312567	SO:0001583	missense	207	exon7			M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.458T>C	14.37:g.105241522A>G	ENSP00000451828:p.Leu153Pro		104312567	NM_001014432	B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.900694	0.72754	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000544168;ENST00000554848;ENST00000555380	T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	3.86	3.86	0.44501	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.083518	0.50627	D	0.000114	T	0.51534	0.1680	M	0.84082	2.675	0.80722	D	1	P	0.37276	0.589	B	0.42062	0.374	T	0.61564	-0.7037	10	0.87932	D	0	.	12.8043	0.57605	1.0:0.0:0.0:0.0	.	153	P31749	AKT1_HUMAN	P	153;153;153;153;153;91;153;91	ENSP00000451828:L153P;ENSP00000384293:L153P;ENSP00000270202:L153P;ENSP00000385326:L153P;ENSP00000450688:L153P;ENSP00000443897:L91P;ENSP00000451166:L153P;ENSP00000451290:L91P	ENSP00000270202:L153P	L	-	2	0	AKT1	104312567	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.783000	0.75078	1.609000	0.50190	0.368000	0.22195	CTG		0.592	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163	
FITM1	161247	hgsc.bcm.edu	37	14	24601981	24601981	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr14:24601981C>T	ENST00000267426.5	+	2	1117	c.828C>T	c.(826-828)agC>agT	p.S276S	FITM1_ENST00000559294.1_Silent_p.S80S	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	276					lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.S276S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						CTCCAGGGAGCCCAGGCCATG	0.587																																					p.S276S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C828T	14						.						47.0	48.0	48.0					14																	24601981		2203	4300	6503	23671821	SO:0001819	synonymous_variant	161247	exon2				CCDS9611.1	14q12	2009-07-09			ENSG00000139914	ENSG00000139914			33714	protein-coding gene	gene with protein product	"""fat-inducing transcript 1"""	612028				18160536	Standard	NM_203402		Approved	FIT1	uc001wmf.2	A5D6W6	OTTHUMG00000133476	ENST00000267426.5:c.828C>T	14.37:g.24601981C>T			23671821	NM_203402	Q8IUQ7	Silent	SNP	ENST00000267426.5	37	CCDS9611.1																																																																																				0.587	FITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257366.1	NM_203402	
NOP9	161424	hgsc.bcm.edu	37	14	24769934	24769935	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	GT	GT	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr14:24769934_24769935delGT	ENST00000267425.3	+	2	661_662	c.568_569delGT	c.(568-570)gtgfs	p.V190fs	DHRS1_ENST00000396813.1_5'Flank|NOP9_ENST00000396802.3_Frame_Shift_Del_p.V190fs|DHRS1_ENST00000288111.7_5'Flank	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	190							poly(A) RNA binding (GO:0044822)	p.C191fs*1(1)									AGCCGCTGAGGTGTGTGATGAT	0.564																																					p.190_190del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.568_569del	14						.																																			23839775	SO:0001589	frameshift_variant	161424	exon2				CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 21"", ""NOP9 nucleolar protein homolog (yeast)"""	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.568_569delGT	14.37:g.24769938_24769939delGT	ENSP00000267425:p.Val190fs		23839774	NM_174913	A8MY76|Q8IVF0|Q8TBS6	Frame_Shift_Del	DEL	ENST00000267425.3	37	CCDS9624.1																																																																																				0.564	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2		
FOXG1	2290	hgsc.bcm.edu	37	14	29237925	29237925	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr14:29237925G>C	ENST00000313071.4	+	1	1639	c.1440G>C	c.(1438-1440)caG>caC	p.Q480H	FOXG1_ENST00000382535.3_Missense_Mutation_p.Q480H	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	480					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q480H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		ATCAAAATCAGGGGTCTTCTT	0.423																																					p.Q480H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1440C	14						.						73.0	74.0	73.0					14																	29237925		2203	4300	6503	28307676	SO:0001583	missense	2290	exon1				CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1440G>C	14.37:g.29237925G>C	ENSP00000339004:p.Gln480His		28307676	NM_005249	A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.558312	0.45590	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.93953	-3.32;-3.32	3.98	3.98	0.46160	.	0.137382	0.49916	U	0.000132	D	0.93446	0.7909	N	0.19112	0.55	0.52501	D	0.999952	D	0.61697	0.99	D	0.72982	0.979	D	0.94877	0.8035	10	0.72032	D	0.01	.	16.4405	0.83900	0.0:0.0:1.0:0.0	.	480	P55316	FOXG1_HUMAN	H	480	ENSP00000371975:Q480H;ENSP00000339004:Q480H	ENSP00000339004:Q480H	Q	+	3	2	FOXG1	28307676	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.834000	0.69361	1.928000	0.55862	0.491000	0.48974	CAG		0.423	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3		
BAZ1A	11177	hgsc.bcm.edu	37	14	35243634	35243634	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr14:35243634G>A	ENST00000382422.2	-	18	3223	c.2896C>T	c.(2896-2898)Cca>Tca	p.P966S	BAZ1A_ENST00000360310.1_Missense_Mutation_p.P966S|BAZ1A_ENST00000358716.4_Missense_Mutation_p.P934S			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	966					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)	p.P966S(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		ATCTGAGATGGATCATATGCA	0.353																																					p.P966S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2896T	14						.						135.0	129.0	131.0					14																	35243634		2203	4300	6503	34313385	SO:0001583	missense	11177	exon19			AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.2896C>T	14.37:g.35243634G>A	ENSP00000371859:p.Pro966Ser		34313385	NM_013448	Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	G	0.169	-1.073257	0.01918	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	T;T;T	0.73575	-0.75;-0.76;-0.76	5.74	-0.309	0.12769	.	0.695945	0.14121	N	0.340047	T	0.43700	0.1259	N	0.15975	0.35	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29792	-1.0000	10	0.02654	T	1	.	1.0007	0.01476	0.1701:0.2126:0.2258:0.3914	.	934;966	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	S	934;966;966;618	ENSP00000351555:P934S;ENSP00000371859:P966S;ENSP00000353458:P966S	ENSP00000351555:P934S	P	-	1	0	BAZ1A	34313385	0.935000	0.31712	0.969000	0.41365	0.647000	0.38526	-0.023000	0.12456	0.280000	0.22209	0.650000	0.86243	CCA		0.353	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1		
BAZ1A	11177	hgsc.bcm.edu	37	14	35331343	35331343	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr14:35331343C>T	ENST00000382422.2	-	2	626	c.299G>A	c.(298-300)cGc>cAc	p.R100H	BAZ1A_ENST00000553853.1_5'UTR|BAZ1A_ENST00000360310.1_Missense_Mutation_p.R100H|BAZ1A_ENST00000358716.4_Missense_Mutation_p.R100H			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	100	Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC. {ECO:0000255|PROSITE- ProRule:PRU00475}.				chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)	p.R100H(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TTCATGTAAGCGCGAACGATG	0.378																																					p.R100H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G299A	14						.						186.0	184.0	185.0					14																	35331343		2203	4300	6503	34401094	SO:0001583	missense	11177	exon3			AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.299G>A	14.37:g.35331343C>T	ENSP00000371859:p.Arg100His		34401094	NM_013448	Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	C	34	5.316988	0.95682	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310	T;T;T	0.78246	-1.15;-1.16;-1.16	5.31	5.31	0.75309	WSTF/Acf1/Cbp146 (2);	0.000000	0.85682	D	0.000000	D	0.90061	0.6896	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.91385	0.5130	10	0.87932	D	0	.	19.331	0.94288	0.0:1.0:0.0:0.0	.	100;100	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	H	100	ENSP00000351555:R100H;ENSP00000371859:R100H;ENSP00000353458:R100H	ENSP00000351555:R100H	R	-	2	0	BAZ1A	34401094	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.403000	0.79983	2.648000	0.89879	0.650000	0.86243	CGC		0.378	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1		
FKBP3	2287	hgsc.bcm.edu	37	14	45590787	45590787	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr14:45590787C>A	ENST00000216330.3	-	5	765	c.355G>T	c.(355-357)Gga>Tga	p.G119*	FKBP3_ENST00000396062.3_Nonsense_Mutation_p.G119*			Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	119					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)	p.G119*(1)		NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						GTTTTATCTCCCTTTTTCAGA	0.338																																					p.G119X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G355T	14						.						122.0	113.0	116.0					14																	45590787		2203	4300	6503	44660537	SO:0001587	stop_gained	2287	exon4			M96256	CCDS9683.1	14q21.2	2008-08-11	2002-08-29		ENSG00000100442	ENSG00000100442			3719	protein-coding gene	gene with protein product		186947	"""FK506-binding protein 3 (25kD)"""			1374240, 1532945	Standard	NM_002013		Approved	FKBP-25, PPIase	uc010tqf.2	Q00688	OTTHUMG00000140267	ENST00000216330.3:c.355G>T	14.37:g.45590787C>A	ENSP00000216330:p.Gly119*		44660537	NM_002013	B2R4Q9|Q14317	Nonsense_Mutation	SNP	ENST00000216330.3	37	CCDS9683.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181881	0.78677	.	.	ENSG00000100442	ENST00000216330;ENST00000396062	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.0144	20.4745	0.99168	0.0:1.0:0.0:0.0	.	.	.	.	X	119	.	ENSP00000216330:G119X	G	-	1	0	FKBP3	44660537	1.000000	0.71417	0.996000	0.52242	0.929000	0.56500	7.508000	0.81686	2.941000	0.99782	0.655000	0.94253	GGA		0.338	FKBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276796.1	NM_002013	
FANCM	57697	hgsc.bcm.edu	37	14	45645843	45645845	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	ATC	ATC	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr14:45645843_45645845delATC	ENST00000267430.5	+	14	3971_3973	c.3886_3888delATC	c.(3886-3888)atcdel	p.I1296del	FANCM_ENST00000542564.2_In_Frame_Del_p.I1270del	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1296					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.I1296delI(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						AACTGTTATTATCCCATCAAATG	0.315								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.1296_1296del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.3886_3888del	14						.																																			44715595	SO:0001651	inframe_deletion	57697	exon14	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.3886_3888delATC	14.37:g.45645843_45645845delATC	ENSP00000267430:p.Ile1296del		44715593	NM_020937	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	In_Frame_Del	DEL	ENST00000267430.5	37	CCDS32070.1																																																																																				0.315	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128	
KLHDC2	23588	hgsc.bcm.edu	37	14	50241352	50241352	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr14:50241352C>T	ENST00000298307.5	+	3	1168	c.307C>T	c.(307-309)Ctg>Ttg	p.L103L	KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000554589.1_Silent_p.L103L|KLHDC2_ENST00000557247.1_Silent_p.L103L	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	103						nucleus (GO:0005634)		p.L103L(1)		endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					AGACAGGGTGCTGTACTTGTT	0.383																																					p.L103L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C307T	14						.						230.0	216.0	221.0					14																	50241352		2203	4300	6503	49311102	SO:0001819	synonymous_variant	23588	exon3			AK001771	CCDS9693.1	14q21.3	2003-01-15			ENSG00000165516	ENSG00000165516			20231	protein-coding gene	gene with protein product		611280				11384994	Standard	NM_014315		Approved	HCLP-1, LCP	uc001wwx.3	Q9Y2U9	OTTHUMG00000140288	ENST00000298307.5:c.307C>T	14.37:g.50241352C>T			49311102	NM_014315	B3KPF9|Q6IAF0|Q86TY9	Silent	SNP	ENST00000298307.5	37	CCDS9693.1																																																																																				0.383	KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276869.1		
SYNE2	23224	hgsc.bcm.edu	37	14	64675504	64675504	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr14:64675504G>A	ENST00000344113.4	+	101	18442	c.18230G>A	c.(18229-18231)aGc>aAc	p.S6077N	SYNE2_ENST00000555002.1_Missense_Mutation_p.S2711N|SYNE2_ENST00000357395.3_Missense_Mutation_p.S2462N|SYNE2_ENST00000358025.3_Missense_Mutation_p.S6077N|SYNE2_ENST00000394768.2_Missense_Mutation_p.S2462N|SYNE2_ENST00000554584.1_Missense_Mutation_p.S6039N|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555022.1_5'UTR|SYNE2_ENST00000554805.1_5'Flank	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6077					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.S6077N(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAACAACACAGCGCAGGGGTG	0.517																																					p.S6077N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G18230A	14						.						121.0	103.0	109.0					14																	64675504		2203	4300	6503	63745257	SO:0001583	missense	23224	exon101			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.18230G>A	14.37:g.64675504G>A	ENSP00000341781:p.Ser6077Asn		63745257	NM_015180	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049193	0.36181	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000556906	T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73	5.5	5.5	0.81552	.	0.128439	0.35555	N	0.003124	T	0.68613	0.3020	M	0.78801	2.425	0.80722	D	1	D;D;D;D;D	0.69078	0.995;0.991;0.997;0.996;0.986	D;D;P;D;D	0.72625	0.948;0.967;0.866;0.978;0.921	T	0.68044	-0.5513	10	0.39692	T	0.17	.	15.9532	0.79859	0.0:0.1441:0.8559:0.0	.	2462;465;6039;6077;6077	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	N	6077;2462;6077;6039;6045;2711;2462;47	ENSP00000350719:S6077N;ENSP00000349969:S2462N;ENSP00000341781:S6077N;ENSP00000452570:S6039N;ENSP00000450831:S2711N;ENSP00000378249:S2462N;ENSP00000452298:S47N	ENSP00000261678:S6045N	S	+	2	0	SYNE2	63745257	0.991000	0.36638	0.958000	0.39756	0.736000	0.42039	2.026000	0.41069	2.600000	0.87896	0.563000	0.77884	AGC		0.517	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
SPTB	6710	hgsc.bcm.edu	37	14	65237718	65237718	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr14:65237718G>A	ENST00000389721.5	-	26	5715	c.5683C>T	c.(5683-5685)Cgc>Tgc	p.R1895C	SPTB_ENST00000389722.3_Missense_Mutation_p.R1895C|SPTB_ENST00000389720.3_Missense_Mutation_p.R1895C|SPTB_ENST00000556626.1_Missense_Mutation_p.R1895C|SPTB_ENST00000542895.1_Missense_Mutation_p.R1895C	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1895					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.R1895C(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGGGTCCGGCGCCCGGCACAG	0.622																																					p.R1895C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5683T	14						.						58.0	59.0	58.0					14																	65237718		2203	4300	6503	64307471	SO:0001583	missense	6710	exon26				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.5683C>T	14.37:g.65237718G>A	ENSP00000374371:p.Arg1895Cys		64307471	NM_001024858	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045285	0.75846	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1;0.1	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.75004	0.3791	M	0.69463	2.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.994	T	0.76683	-0.2869	10	0.59425	D	0.04	.	17.7319	0.88380	0.0:0.0:1.0:0.0	.	679;1895;1899	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	C	1899;1895;679;560;1895;1895;1895;1895	ENSP00000374372:R1895C;ENSP00000451324:R560C;ENSP00000451752:R1895C;ENSP00000374371:R1895C;ENSP00000443882:R1895C;ENSP00000374370:R1895C	ENSP00000334218:R679C	R	-	1	0	SPTB	64307471	1.000000	0.71417	0.998000	0.56505	0.770000	0.43624	6.626000	0.74253	2.541000	0.85698	0.462000	0.41574	CGC		0.622	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1		
TTLL5	23093	hgsc.bcm.edu	37	14	76165589	76165589	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr14:76165589G>A	ENST00000298832.9	+	7	766	c.561G>A	c.(559-561)ggG>ggA	p.G187G	TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000286650.5_Silent_p.G187G|TTLL5_ENST00000557636.1_Silent_p.G187G	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	187	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)	p.G187G(1)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CTTCAAGGGGGCGGGGCGTCT	0.438																																					p.G187G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G561A	14						.						87.0	81.0	83.0					14																	76165589		2203	4300	6503	75235342	SO:0001819	synonymous_variant	23093	exon7			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.561G>A	14.37:g.76165589G>A			75235342	NM_015072	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Silent	SNP	ENST00000298832.9	37	CCDS32124.1																																																																																				0.438	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072	
NRXN3	9369	hgsc.bcm.edu	37	14	79933639	79933639	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr14:79933639C>T	ENST00000557594.1	+	2	1276	c.323C>T	c.(322-324)aCg>aTg	p.T108M	NRXN3_ENST00000428277.2_Missense_Mutation_p.T108M|NRXN3_ENST00000335750.5_Missense_Mutation_p.T740M|NRXN3_ENST00000554719.1_Missense_Mutation_p.T740M|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000281127.7_Missense_Mutation_p.T108M	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	108	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.T740M(2)|p.T108M(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AGGCCCAGCACGCGGTCTGAC	0.577																																					p.T108M												.	.	4	Substitution - Missense(4)	large_intestine(2)|endometrium(2)	c.C323T	14						.						110.0	92.0	98.0					14																	79933639		2203	4300	6503	79003392	SO:0001583	missense	9369	exon2			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.323C>T	14.37:g.79933639C>T	ENSP00000451672:p.Thr108Met		79003392	NM_138970	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37		.	.	.	.	.	.	.	.	.	.	C	32	5.106702	0.94292	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.79940	-1.32;-1.32;0.88;0.88;0.88	5.93	5.93	0.95920	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.85682	D	0.000000	D	0.88496	0.6452	L	0.58101	1.795	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.79108	0.981;0.949;0.943;0.992	D	0.86303	0.1681	9	.	.	.	.	20.3312	0.98718	0.0:1.0:0.0:0.0	.	108;108;108;740	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	M	1113;1102;740;740;108;108;108	ENSP00000451648:T740M;ENSP00000338349:T740M;ENSP00000451672:T108M;ENSP00000281127:T108M;ENSP00000394426:T108M	.	T	+	2	0	NRXN3	79003392	1.000000	0.71417	0.983000	0.44433	0.981000	0.71138	7.806000	0.86020	2.797000	0.96272	0.655000	0.94253	ACG		0.577	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250	
TSHR	7253	hgsc.bcm.edu	37	14	81610143	81610143	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr14:81610143G>A	ENST00000541158.2	+	11	2063	c.1741G>A	c.(1741-1743)Gca>Aca	p.A581T	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.A581T			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	581					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.A581T(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)	TCTTGCTCTGGCATATATTGT	0.483			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																														p.A581T		yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1741A	14						.						367.0	302.0	324.0					14																	81610143		2203	4300	6503	80679896	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.1741G>A	14.37:g.81610143G>A	ENSP00000441235:p.Ala581Thr		80679896	NM_000369	A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.954828	0.34471	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	T;T	0.71698	-0.59;-0.59	5.56	4.48	0.54585	.	0.215596	0.49305	D	0.000155	T	0.68081	0.2962	M	0.69185	2.1	0.38877	D	0.956814	B	0.22003	0.063	B	0.18871	0.023	T	0.66952	-0.5793	10	0.32370	T	0.25	.	15.2978	0.73922	0.0786:0.0:0.9214:0.0	.	581	F5GYU5	.	T	581;228;581	ENSP00000441235:A581T;ENSP00000298171:A581T	ENSP00000298171:A581T	A	+	1	0	TSHR	80679896	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	4.551000	0.60740	2.618000	0.88619	0.561000	0.74099	GCA		0.483	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369	
NRDE2	55051	hgsc.bcm.edu	37	14	90744713	90744713	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr14:90744713C>T	ENST00000354366.3	-	14	3694	c.3462G>A	c.(3460-3462)ccG>ccA	p.P1154P	NRDE2_ENST00000357904.3_Silent_p.P923P	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	1154								p.P1154P(1)									GCTCCTCCAGCGGCAGGCGCA	0.637																																					p.P1154P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3462A	14						.																																			89814466	SO:0001819	synonymous_variant	55051	exon14			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.3462G>A	14.37:g.90744713C>T			89814466	NM_017970	B4DH71|Q4G0A7|Q9NWH6	Silent	SNP	ENST00000354366.3	37	CCDS9890.1																																																																																				0.637	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970	
NRDE2	55051	hgsc.bcm.edu	37	14	90759123	90759123	+	Missense_Mutation	SNP	C	C	T	rs149932737		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr14:90759123C>T	ENST00000354366.3	-	9	1992	c.1760G>A	c.(1759-1761)cGt>cAt	p.R587H	NRDE2_ENST00000357904.3_Missense_Mutation_p.R356H	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	587								p.R587H(1)									CCTCTGGTCACGGGAACGCTC	0.557																																					p.R587H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1760A	14						.	C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	164.0	156.0	158.0		1760,1067	5.5	1.0	14	dbSNP_134	158	0,8600		0,0,4300	no	missense,missense	C14orf102	NM_017970.3,NM_199043.1	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	587/1165,356/934	90759123	1,13005	2203	4300	6503	89828876	SO:0001583	missense	55051	exon9			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.1760G>A	14.37:g.90759123C>T	ENSP00000346335:p.Arg587His		89828876	NM_017970	B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	C	36	5.606802	0.96626	2.27E-4	0.0	ENSG00000119720	ENST00000354366;ENST00000357904;ENST00000554464	T;T	0.32753	1.44;1.44	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000001	T	0.63331	0.2502	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67397	-0.5681	10	0.51188	T	0.08	-9.7536	19.3157	0.94213	0.0:1.0:0.0:0.0	.	587	Q9H7Z3	CN102_HUMAN	H	587;356;166	ENSP00000346335:R587H;ENSP00000350579:R356H	ENSP00000346335:R587H	R	-	2	0	C14orf102	89828876	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.322000	0.79097	2.551000	0.86045	0.655000	0.94253	CGT		0.557	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970	
SLC24A4	123041	hgsc.bcm.edu	37	14	92949082	92949082	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr14:92949082C>T	ENST00000532405.1	+	13	1540	c.1314C>T	c.(1312-1314)tgC>tgT	p.C438C	SLC24A4_ENST00000393265.2_Silent_p.C374C|SLC24A4_ENST00000531433.1_Silent_p.C419C|SLC24A4_ENST00000298877.1_Silent_p.C421C|SLC24A4_ENST00000351924.5_Silent_p.C402C			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	438					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.C421C(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TCCTCCTGTGCGTCACCATTC	0.582																																					p.C438C	NSCLC(10;315 435 10383 28450 38798)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1314T	14						.						128.0	108.0	115.0					14																	92949082		2203	4300	6503	92018835	SO:0001819	synonymous_variant	123041	exon13			AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1314C>T	14.37:g.92949082C>T			92018835	NM_153646	B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Silent	SNP	ENST00000532405.1	37	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	C	7.830	0.719740	0.15372	.	.	ENSG00000140090	ENST00000525557	.	.	.	5.63	-3.7	0.04437	.	.	.	.	.	T	0.41673	0.1169	.	.	.	0.24969	N	0.991676	.	.	.	.	.	.	T	0.44922	-0.9296	4	.	.	.	.	14.2002	0.65699	0.0:0.2426:0.0:0.7574	.	.	.	.	C	304	.	.	R	+	1	0	SLC24A4	92018835	0.000000	0.05858	0.124000	0.21820	0.909000	0.53808	-0.597000	0.05713	-0.529000	0.06358	-1.036000	0.02392	CGT		0.582	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646	
UNC79	57578	hgsc.bcm.edu	37	14	94008968	94008968	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr14:94008968C>T	ENST00000393151.2	+	14	1681	c.1681C>T	c.(1681-1683)Ctg>Ttg	p.L561L	UNC79_ENST00000553484.1_Silent_p.L561L|UNC79_ENST00000256339.4_Silent_p.L384L|UNC79_ENST00000555664.1_Silent_p.L561L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	561					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L384L(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CACCAAATGGCTGAAGACCGT	0.493																																					p.L384L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1150T	14						.						285.0	240.0	256.0					14																	94008968		2203	4300	6503	93078721	SO:0001819	synonymous_variant	57578	exon14			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1681C>T	14.37:g.94008968C>T			93078721	NM_020818	B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37																																																																																					0.493	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
CDCA4	55038	hgsc.bcm.edu	37	14	105478046	105478046	+	Missense_Mutation	SNP	G	G	A	rs375561549		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr14:105478046G>A	ENST00000336219.3	-	2	376	c.221C>T	c.(220-222)aCg>aTg	p.T74M	CDCA4_ENST00000392590.3_Missense_Mutation_p.T74M	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	74	SERTA. {ECO:0000255|PROSITE- ProRule:PRU00396}.					nucleus (GO:0005634)		p.T74M(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		CCCATCCTGCGTCATCTCCTC	0.642																																					p.T74M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C221T	14						.	G	MET/THR,MET/THR	0,4406		0,0,2203	52.0	41.0	45.0		221,221	0.4	0.9	14		45	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CDCA4	NM_017955.3,NM_145701.2	81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	74/242,74/242	105478046	1,13005	2203	4300	6503	104549091	SO:0001583	missense	55038	exon2			BG354577	CCDS9996.1	14q32.33	2014-02-14			ENSG00000170779	ENSG00000170779			14625	protein-coding gene	gene with protein product	"""hematopoietic progenitor protein"""	612270				12188893	Standard	NM_145701		Approved	FLJ20764, Hepp	uc001yqb.2	Q9BXL8	OTTHUMG00000170767	ENST00000336219.3:c.221C>T	14.37:g.105478046G>A	ENSP00000337226:p.Thr74Met		104549091	NM_017955	Q8TB18|Q9NWK7	Missense_Mutation	SNP	ENST00000336219.3	37	CCDS9996.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.947700	0.53186	0.0	1.16E-4	ENSG00000170779	ENST00000336219;ENST00000392590	T;T	0.46451	0.87;0.87	4.65	0.37	0.16160	.	0.159024	0.56097	D	0.000036	T	0.41026	0.1141	N	0.08118	0	0.53688	D	0.999974	D	0.89917	1.0	D	0.65773	0.938	T	0.39722	-0.9600	10	0.48119	T	0.1	-5.3228	16.6407	0.85098	0.0:0.4724:0.5276:0.0	.	74	Q9BXL8	CDCA4_HUMAN	M	74	ENSP00000337226:T74M;ENSP00000376369:T74M	ENSP00000337226:T74M	T	-	2	0	CDCA4	104549091	0.999000	0.42202	0.921000	0.36526	0.416000	0.31233	2.227000	0.42972	-0.154000	0.11118	-0.165000	0.13383	ACG		0.642	CDCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410311.1	NM_145701	
HPS4	89781	hgsc.bcm.edu	37	22	26860351	26860351	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr22:26860351C>T	ENST00000398145.2	-	11	1861	c.1245G>A	c.(1243-1245)acG>acA	p.T415T	HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000398141.1_Silent_p.T428T|HPS4_ENST00000336873.5_Silent_p.T415T|HPS4_ENST00000402105.3_Silent_p.T410T	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	415					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)	p.T428T(1)|p.T415T(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						CCTCAGGAGGCGTGGGTTCCA	0.607									Hermansky-Pudlak syndrome																												p.T410T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1230A	22						.						74.0	65.0	68.0					22																	26860351		2203	4300	6503	25190351	SO:0001819	synonymous_variant	89781	exon9	Familial Cancer Database	HPS, HPS1-8		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.1245G>A	22.37:g.26860351C>T			25190351	NM_152841	B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Silent	SNP	ENST00000398145.2	37	CCDS13835.1																																																																																				0.607	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081	
NF2	4771	hgsc.bcm.edu	37	22	30067827	30067827	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr22:30067827C>T	ENST00000338641.4	+	11	1453	c.1012C>T	c.(1012-1014)Cgc>Tgc	p.R338C	NF2_ENST00000347330.5_Intron|NF2_ENST00000403435.1_Intron|NF2_ENST00000361166.4_Missense_Mutation_p.R338C|NF2_ENST00000397789.3_Missense_Mutation_p.R338C|NF2_ENST00000361452.4_Missense_Mutation_p.R297C|NF2_ENST00000361676.4_Missense_Mutation_p.R296C|NF2_ENST00000353887.4_Missense_Mutation_p.R255C|NF2_ENST00000403999.3_Missense_Mutation_p.R338C|NF2_ENST00000334961.7_Missense_Mutation_p.R255C|NF2_ENST00000413209.2_Intron	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	338	Glu-rich.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.M334fs*4(1)|p.E335fs*8(1)|p.R338C(1)|p.M334_Q362del(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GGAGCGGCAGCGCCTCGCTCG	0.567			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																												p.R338C		yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	.	.	7	Unknown(3)|Deletion - Frameshift(2)|Substitution - Missense(1)|Deletion - In frame(1)	large_intestine(2)|stomach(1)|soft_tissue(1)|central_nervous_system(1)|pleura(1)|skin(1)	c.C1012T	22						.						71.0	65.0	67.0					22																	30067827		2203	4300	6503	28397827	SO:0001583	missense	4771	exon11	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.1012C>T	22.37:g.30067827C>T	ENSP00000344666:p.Arg338Cys		28397827	NM_000268	O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Missense_Mutation	SNP	ENST00000338641.4	37	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018450	0.54576	.	.	ENSG00000186575	ENST00000338641;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	T;D;D;D;D;D;D;D	0.82526	-1.37;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	5.66	3.38	0.38709	.	0.000000	0.85682	D	0.000000	T	0.80076	0.4557	M	0.73962	2.25	0.80722	D	1	B;B;B;B;B;B	0.22604	0.072;0.006;0.054;0.019;0.042;0.047	B;B;B;B;B;B	0.23852	0.049;0.002;0.016;0.014;0.008;0.008	T	0.75337	-0.3353	9	.	.	.	.	10.0191	0.42033	0.2173:0.7145:0.0:0.0682	.	297;338;338;296;255;338	P35240-5;P35240;P35240-2;P35240-6;P35240-4;P35240-3	.;MERL_HUMAN;.;.;.;.	C	338;297;338;338;255;255;338;296;338	ENSP00000344666:R338C;ENSP00000354897:R297C;ENSP00000384797:R338C;ENSP00000335652:R255C;ENSP00000340626:R255C;ENSP00000380891:R338C;ENSP00000355183:R296C;ENSP00000354529:R338C	.	R	+	1	0	NF2	28397827	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	0.748000	0.26305	2.681000	0.91329	0.462000	0.41574	CGC		0.567	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268	
TCN2	6948	hgsc.bcm.edu	37	22	31006990	31006990	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr22:31006990G>A	ENST00000215838.3	+	2	691	c.197G>A	c.(196-198)gGg>gAg	p.G66E	TCN2_ENST00000407817.3_Missense_Mutation_p.G66E|TCN2_ENST00000405742.3_Missense_Mutation_p.G66E			P20062	TCO2_HUMAN	transcobalamin II	66					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)	p.G66E(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTGCAGGCTGGGACCAAGGAA	0.552																																					p.G66E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G197A	22						.						190.0	174.0	179.0					22																	31006990		2203	4300	6503	29336990	SO:0001583	missense	6948	exon2				CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"""macrocytic anemia"""	613441	"""transcobalamin II; macrocytic anemia"""			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.197G>A	22.37:g.31006990G>A	ENSP00000215838:p.Gly66Glu		29336990	NM_001184726	Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	37	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	G	0.086	-1.174901	0.01646	.	.	ENSG00000185339	ENST00000215838;ENST00000423350;ENST00000405742;ENST00000407817	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.64	4.61	0.57282	.	0.613951	0.18121	N	0.151024	T	0.34571	0.0902	M	0.72479	2.2	0.34581	D	0.714485	B;B;B	0.31040	0.059;0.305;0.305	B;B;B	0.24155	0.037;0.051;0.051	T	0.46830	-0.9163	10	0.33141	T	0.24	-16.0098	9.8954	0.41316	0.1005:0.0:0.8995:0.0	.	66;66;66	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	E	66	ENSP00000215838:G66E;ENSP00000411529:G66E;ENSP00000385914:G66E;ENSP00000384914:G66E	ENSP00000215838:G66E	G	+	2	0	TCN2	29336990	0.067000	0.21026	0.302000	0.25058	0.139000	0.21198	0.826000	0.27407	1.534000	0.49203	0.650000	0.86243	GGG		0.552	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	NM_000355	
MFNG	4242	hgsc.bcm.edu	37	22	37876330	37876330	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr22:37876330G>A	ENST00000356998.3	-	3	535	c.312C>T	c.(310-312)caC>caT	p.H104H	MFNG_ENST00000416983.3_Silent_p.H90H	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	104					pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)	extracellular space (GO:0005615)|integral component of Golgi membrane (GO:0030173)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)	p.H104H(1)		large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					TGACCACAAGGTGGGACCCTG	0.612																																					p.H90H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C270T	22						.						73.0	62.0	65.0					22																	37876330		2203	4300	6503	36206276	SO:0001819	synonymous_variant	4242	exon2			BC094814	CCDS13947.1, CCDS54525.1	22q13.1	2013-02-19	2006-11-13		ENSG00000100060	ENSG00000100060	2.4.1.222	"""Beta 3-glycosyltransferases"""	7038	protein-coding gene	gene with protein product		602577	"""manic fringe (Drosophila) homolog"", ""manic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_002405		Approved		uc003ass.2	O00587	OTTHUMG00000150560	ENST00000356998.3:c.312C>T	22.37:g.37876330G>A			36206276	NM_001166343	B4DLT6|O43730|Q504S9	Silent	SNP	ENST00000356998.3	37	CCDS13947.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390855	0.42410	.	.	ENSG00000100060	ENST00000424765	.	.	.	5.2	3.03	0.35002	.	.	.	.	.	T	0.59715	0.2214	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58940	-0.7547	5	0.87932	D	0	-33.5419	4.3541	0.11169	0.195:0.0:0.6262:0.1788	.	.	.	.	I	114	.	ENSP00000407110:T114I	T	-	2	0	MFNG	36206276	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	1.584000	0.36589	0.525000	0.28522	0.462000	0.41574	ACC		0.612	MFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318902.1	NM_002405	
DDX17	10521	hgsc.bcm.edu	37	22	38883888	38883888	+	Silent	SNP	G	G	A	rs377625856		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr22:38883888G>A	ENST00000396821.3	-	12	1779	c.1680C>T	c.(1678-1680)ggC>ggT	p.G560G	DDX17_ENST00000381633.3_Silent_p.G483G|DDX17_ENST00000432525.1_5'Flank|DDX17_ENST00000444597.1_Silent_p.G12G	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	558	Poly-Gly.|Transactivation domain.				ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)	p.G560G(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					CCTTACCCCCGCCTCCGCCGC	0.488																																					p.G560G	Ovarian(55;1085 1454 6392 21425)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1680T	22						.						74.0	68.0	70.0					22																	38883888		2203	4300	6503	37213834	SO:0001819	synonymous_variant	10521	exon12			U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"""DEAD-boxes"""	2740	protein-coding gene	gene with protein product		608469	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"""			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.1680C>T	22.37:g.38883888G>A			37213834	NM_001098504	B1AHM0|Q69YT1|Q6ICD6	Silent	SNP	ENST00000396821.3	37	CCDS46706.1																																																																																				0.488	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321476.2	NM_030881	
TTLL1	25809	hgsc.bcm.edu	37	22	43460233	43460233	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr22:43460233C>T	ENST00000266254.7	-	6	841	c.601G>A	c.(601-603)Gtt>Att	p.V201I	TTLL1_ENST00000331018.7_Missense_Mutation_p.V201I	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	201	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)	p.V201I(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		GACACCAGAACGTACAAGCGC	0.458																																					p.V201I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G601A	22						.						137.0	118.0	124.0					22																	43460233		2203	4300	6503	41790177	SO:0001583	missense	25809	exon6			AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.601G>A	22.37:g.43460233C>T	ENSP00000266254:p.Val201Ile		41790177	NM_012263	B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Missense_Mutation	SNP	ENST00000266254.7	37	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992558	0.74703	.	.	ENSG00000100271	ENST00000331018;ENST00000266254	T;T	0.11063	2.81;2.81	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.42063	0.1186	M	0.90198	3.095	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70716	0.962;0.97	T	0.47433	-0.9118	10	0.66056	D	0.02	.	18.0091	0.89218	0.0:1.0:0.0:0.0	.	201;201	O95922-4;O95922	.;TTLL1_HUMAN	I	201	ENSP00000333734:V201I;ENSP00000266254:V201I	ENSP00000266254:V201I	V	-	1	0	TTLL1	41790177	1.000000	0.71417	0.179000	0.23059	0.199000	0.23934	7.392000	0.79840	2.681000	0.91329	0.467000	0.42956	GTT		0.458	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263	
PARVB	29780	hgsc.bcm.edu	37	22	44527477	44527477	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr22:44527477C>T	ENST00000338758.7	+	5	550	c.487C>T	c.(487-489)Cga>Tga	p.R163*	PARVB_ENST00000404989.1_Nonsense_Mutation_p.R126*|PARVB_ENST00000406477.3_Nonsense_Mutation_p.R196*	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	163	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)		p.R196*(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GCTGCGGCCCCGAGGCTGGGC	0.612																																					p.R196X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C586T	22						.						60.0	49.0	53.0					22																	44527477		2203	4300	6503	42858810	SO:0001587	stop_gained	29780	exon6			AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"""Parvins"""	14653	protein-coding gene	gene with protein product	"""affixin"""	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.487C>T	22.37:g.44527477C>T	ENSP00000342492:p.Arg163*		42858810	NM_001003828	B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Nonsense_Mutation	SNP	ENST00000338758.7	37	CCDS14056.1	.	.	.	.	.	.	.	.	.	.	C	36	5.851237	0.97023	.	.	ENSG00000188677	ENST00000406477;ENST00000338758;ENST00000444029;ENST00000404989	.	.	.	5.17	5.17	0.71159	.	0.147662	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-26.393	17.2467	0.87030	0.0:1.0:0.0:0.0	.	.	.	.	X	196;163;161;126	.	ENSP00000342492:R163X	R	+	1	2	PARVB	42858810	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	4.418000	0.59828	2.407000	0.81776	0.655000	0.94253	CGA		0.612	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319518.2	NM_001003828	
TBC1D22A	25771	hgsc.bcm.edu	37	22	47193399	47193399	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr22:47193399C>T	ENST00000337137.4	+	4	685	c.519C>T	c.(517-519)acC>acT	p.T173T	TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000406733.1_Silent_p.T126T|TBC1D22A_ENST00000380995.1_Silent_p.T126T|TBC1D22A_ENST00000407381.3_Intron	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	173							protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)	p.T173T(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		ACTCGGCCACCGTCACGCTGG	0.647											OREG0026659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T173T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C519T	22						.						63.0	55.0	58.0					22																	47193399		2203	4300	6503	45572063	SO:0001819	synonymous_variant	25771	exon4			AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.519C>T	22.37:g.47193399C>T		945	45572063	NM_014346	B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Silent	SNP	ENST00000337137.4	37	CCDS14078.1																																																																																				0.647	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346	
TBC1D22A	25771	hgsc.bcm.edu	37	22	47432984	47432984	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr22:47432984C>G	ENST00000337137.4	+	11	1385	c.1219C>G	c.(1219-1221)Ctg>Gtg	p.L407V	TBC1D22A_ENST00000355704.3_Missense_Mutation_p.L329V|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.L360V|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.L348V	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	407	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)	p.L407V(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GCACCGGCACCTGGACCAACA	0.597																																					p.L407V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1219G	22						.						106.0	86.0	93.0					22																	47432984		2203	4300	6503	45811648	SO:0001583	missense	25771	exon11			AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.1219C>G	22.37:g.47432984C>G	ENSP00000336724:p.Leu407Val		45811648	NM_014346	B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910987	0.52439	.	.	ENSG00000054611	ENST00000337137;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	4.59	3.54	0.40534	Rab-GAP/TBC domain (4);	0.058220	0.64402	D	0.000002	T	0.68256	0.2981	H	0.94345	3.525	0.80722	D	1	P;D;P;P	0.53312	0.91;0.959;0.912;0.91	P;P;P;P	0.58013	0.717;0.831;0.828;0.717	T	0.73704	-0.3899	10	0.72032	D	0.01	.	6.4966	0.22146	0.0:0.7392:0.0:0.2608	.	407;329;348;407	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	V	407;348;329;360	ENSP00000336724:L407V;ENSP00000384036:L348V;ENSP00000347932:L329V;ENSP00000385634:L360V	ENSP00000336724:L407V	L	+	1	2	TBC1D22A	45811648	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.685000	0.46959	2.360000	0.80028	0.462000	0.41574	CTG		0.597	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346	
RNASEH2A	10535	hgsc.bcm.edu	37	19	12920925	12920925	+	Missense_Mutation	SNP	C	C	T	rs369325444		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:12920925C>T	ENST00000221486.4	+	5	546	c.452C>T	c.(451-453)gCg>gTg	p.A151V		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	151					DNA replication (GO:0006260)|mismatch repair (GO:0006298)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	metal ion binding (GO:0046872)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)	p.A151V(1)		breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						ACATACCAGGCGCGGCTGCAG	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		18529	0.0		0.0	False		,,,				2504	0.001				p.A151V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C452T	19						.						164.0	156.0	158.0					19																	12920925		2203	4300	6503	12781925	SO:0001583	missense	10535	exon5			Z97029	CCDS12282.1	19p13.13	2014-09-17	2006-08-17			ENSG00000104889	3.1.26.-		18518	protein-coding gene	gene with protein product		606034	"""ribonuclease H2, large subunit"", ""Aicardi-Goutieres syndrome 4"""			9789007, 16845400	Standard	NM_006397		Approved	RNASEHI, RNHIA, RNHL, AGS4	uc002mvg.1	O75792		ENST00000221486.4:c.452C>T	19.37:g.12920925C>T	ENSP00000221486:p.Ala151Val		12781925	NM_006397	B2RCY1|Q96F11	Missense_Mutation	SNP	ENST00000221486.4	37	CCDS12282.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731903	0.30684	.	.	ENSG00000104889	ENST00000221486	D	0.85861	-2.04	5.19	2.87	0.33458	Ribonuclease HII/HIII domain (1);Ribonuclease H-like (1);	0.714278	0.13512	N	0.382446	D	0.82825	0.5121	M	0.81112	2.525	0.33818	D	0.628745	B	0.33073	0.396	B	0.20384	0.029	T	0.79995	-0.1568	10	0.33940	T	0.23	-6.1824	11.637	0.51209	0.6344:0.3656:0.0:0.0	.	151	O75792	RNH2A_HUMAN	V	151	ENSP00000221486:A151V	ENSP00000221486:A151V	A	+	2	0	RNASEH2A	12781925	1.000000	0.71417	0.398000	0.26321	0.428000	0.31595	3.532000	0.53553	0.211000	0.20683	-0.410000	0.06199	GCG		0.532	RNASEH2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451507.1	NM_006397	
RTBDN	83546	hgsc.bcm.edu	37	19	12937681	12937681	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:12937681C>T	ENST00000458671.2	-	5	522	c.370G>A	c.(370-372)Gcc>Acc	p.A124T	RTBDN_ENST00000589272.1_Missense_Mutation_p.A156T|RTBDN_ENST00000393233.2_Silent_p.S82S|RTBDN_ENST00000592204.1_Missense_Mutation_p.A134T|CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000322912.5_Missense_Mutation_p.A156T	NM_001080997.2	NP_001074466.1	Q9BSG5	RTBDN_HUMAN	retbindin	124						extracellular region (GO:0005576)		p.A156T(1)		kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						TCGCAGTTGGCGAACCTGGAG	0.547																																					p.A156T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G466A	19						.						48.0	36.0	40.0					19																	12937681		2176	4219	6395	12798681	SO:0001583	missense	83546	exon6			AY028917	CCDS12283.1, CCDS45994.1, CCDS59355.1, CCDS59356.1	19p13	2006-03-22				ENSG00000132026			30310	protein-coding gene	gene with protein product		609553				12107411	Standard	NM_001080997		Approved	FLJ36353	uc002mvj.4	Q9BSG5		ENST00000458671.2:c.370G>A	19.37:g.12937681C>T	ENSP00000416375:p.Ala124Thr		12798681	NM_031429	F1T0I8|Q9BWT5	Missense_Mutation	SNP	ENST00000458671.2	37	CCDS45994.1	.	.	.	.	.	.	.	.	.	.	C	9.089	1.001281	0.19121	.	.	ENSG00000132026	ENST00000322912;ENST00000458671	T;T	0.76186	-1.0;-1.0	4.23	-2.23	0.06930	Folate receptor-like (1);	0.430874	0.19217	N	0.119768	T	0.46425	0.1392	L	0.28192	0.835	0.19300	N	0.999975	P;P;P	0.38642	0.588;0.641;0.641	B;B;B	0.32393	0.089;0.145;0.145	T	0.44174	-0.9345	10	0.17369	T	0.5	-0.0505	2.6981	0.05140	0.3816:0.2719:0.0:0.3465	.	156;124;134	Q9BSG5-2;Q9BSG5;F1T0I8	.;RTBDN_HUMAN;.	T	156;124	ENSP00000326253:A156T;ENSP00000416375:A124T	ENSP00000326253:A156T	A	-	1	0	RTBDN	12798681	0.031000	0.19500	0.112000	0.21494	0.011000	0.07611	-0.179000	0.09768	-0.112000	0.11979	0.585000	0.79938	GCC		0.547	RTBDN-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451513.1	NM_031429	
C19orf53	28974	hgsc.bcm.edu	37	19	13883026	13883026	+	5'Flank	SNP	G	G	T	rs577819040		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:13883026G>T	ENST00000588234.1	+	0	0				MRI1_ENST00000319545.8_Missense_Mutation_p.E300D|MRI1_ENST00000040663.6_Missense_Mutation_p.E347D|C19orf53_ENST00000593274.1_5'Flank|CTB-5E10.3_ENST00000586894.1_RNA|CTB-5E10.3_ENST00000586297.1_RNA|CTB-5E10.3_ENST00000591826.1_RNA	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53									p.E300D(1)|p.E347D(1)		breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			TTGCCCCTGAGGAGCTCCGGA	0.577																																					p.E347D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1041T	19						.						94.0	88.0	90.0					19																	13883026		2203	4300	6503	13744026	SO:0001631	upstream_gene_variant	84245	exon6			AF078852	CCDS12298.1	19p13.2	2011-11-24			ENSG00000104979	ENSG00000104979			24991	protein-coding gene	gene with protein product	"""leydig cell tumor 10 kDa protein homolog"""					11042152	Standard	NM_014047		Approved	HSPC023, LYDG10	uc002mxg.3	Q9UNZ5			19.37:g.13883026G>T	Exception_encountered		13744026	NM_001031727	B2R4J9	Missense_Mutation	SNP	ENST00000588234.1	37	CCDS12298.1	.	.	.	.	.	.	.	.	.	.	G	4.499	0.092489	0.08632	.	.	ENSG00000037757	ENST00000040663;ENST00000319545	T;T	0.29142	1.58;1.58	4.88	1.58	0.23477	.	0.235842	0.36409	N	0.002620	T	0.19366	0.0465	L	0.41079	1.255	0.33969	D	0.646543	B;B	0.20052	0.041;0.0	B;B	0.20955	0.032;0.002	T	0.31861	-0.9928	10	0.07644	T	0.81	-48.5554	8.4492	0.32860	0.2618:0.0:0.7382:0.0	.	300;347	Q9BV20-2;Q9BV20	.;MTNA_HUMAN	D	347;300	ENSP00000040663:E347D;ENSP00000314871:E300D	ENSP00000040663:E347D	E	+	3	2	MRI1	13744026	0.000000	0.05858	0.467000	0.27180	0.611000	0.37282	-0.444000	0.06854	0.144000	0.18951	-0.350000	0.07774	GAG		0.577	C19orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453621.1	NM_014047	
OR7C1	26664	hgsc.bcm.edu	37	19	14910188	14910188	+	Missense_Mutation	SNP	G	G	A	rs141077779		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:14910188G>A	ENST00000248073.2	-	1	835	c.761C>T	c.(760-762)aCg>aTg	p.T254M	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	254					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T254M(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						CCCAAAGCCCGTGCCATAGAA	0.517																																					p.T254M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C761T	19						.	A	MET/THR	0,4406		0,0,2203	81.0	75.0	77.0		761	1.5	0.0	19	dbSNP_134	77	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR7C1	NM_198944.1	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	254/321	14910188	1,13005	2203	4300	6503	14771188	SO:0001583	missense	26664	exon1			X89676	CCDS12317.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.761C>T	19.37:g.14910188G>A	ENSP00000248073:p.Thr254Met		14771188	NM_198944	Q15621|Q6IFP2|Q96R94	Missense_Mutation	SNP	ENST00000248073.2	37	CCDS12317.1	.	.	.	.	.	.	.	.	.	.	g	12.89	2.074804	0.36566	0.0	1.16E-4	ENSG00000127530	ENST00000248073	T	0.00291	8.27	3.64	1.48	0.22813	GPCR, rhodopsin-like superfamily (1);	0.257624	0.20233	N	0.096452	T	0.00724	0.0024	M	0.93062	3.375	0.09310	N	1	D	0.89917	1.0	D	0.74023	0.982	T	0.33624	-0.9861	10	0.66056	D	0.02	.	7.6902	0.28563	0.2162:0.0:0.7838:0.0	.	254	O76099	OR7C1_HUMAN	M	254	ENSP00000248073:T254M	ENSP00000248073:T254M	T	-	2	0	OR7C1	14771188	0.013000	0.17824	0.001000	0.08648	0.002000	0.02628	1.944000	0.40263	0.349000	0.23975	-0.246000	0.11932	ACG		0.517	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466519.1		
CIB3	117286	hgsc.bcm.edu	37	19	16275679	16275679	+	Missense_Mutation	SNP	G	G	A	rs200570024		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:16275679G>A	ENST00000269878.4	-	5	441	c.392C>T	c.(391-393)aCg>aTg	p.T131M	CIB3_ENST00000541493.1_5'UTR|CIB3_ENST00000379859.3_Missense_Mutation_p.T82M	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	131	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.T131M(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						TTTGGTCACCGTCTGCTCCAG	0.607																																					p.T131M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C392T	19						.						123.0	113.0	116.0					19																	16275679		2203	4300	6503	16136679	SO:0001583	missense	117286	exon5			AB050868	CCDS12340.1, CCDS74305.1	19p13.12	2013-01-10						"""EF-hand domain containing"""	24580	protein-coding gene	gene with protein product		610645					Standard	XM_005259728		Approved	KIP3	uc002nds.3	Q96Q77		ENST00000269878.4:c.392C>T	19.37:g.16275679G>A	ENSP00000269878:p.Thr131Met		16136679	NM_054113	E7EUX1|Q2M1W0|Q6ISP1	Missense_Mutation	SNP	ENST00000269878.4	37	CCDS12340.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781715	0.49891	.	.	ENSG00000141977	ENST00000269878;ENST00000379859	T;T	0.70631	-0.5;-0.5	4.78	3.72	0.42706	EF-hand-like domain (1);	0.047876	0.85682	N	0.000000	T	0.70535	0.3235	L	0.33624	1.015	0.80722	D	1	D;D	0.67145	0.996;0.991	P;P	0.58077	0.832;0.802	T	0.67760	-0.5587	10	0.30854	T	0.27	-25.2159	12.7655	0.57388	0.0815:0.0:0.9185:0.0	.	82;131	E7EUX1;Q96Q77	.;CIB3_HUMAN	M	131;82	ENSP00000269878:T131M;ENSP00000369188:T82M	ENSP00000269878:T131M	T	-	2	0	CIB3	16136679	1.000000	0.71417	0.980000	0.43619	0.186000	0.23388	7.664000	0.83830	1.131000	0.42111	0.462000	0.41574	ACG		0.607	CIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460351.1	NM_054113	
CALR3	125972	hgsc.bcm.edu	37	19	16594761	16594761	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:16594761T>C	ENST00000269881.3	-	5	720	c.658A>G	c.(658-660)Act>Gct	p.T220A	CTD-3222D19.2_ENST00000409035.1_Intron|CALR3_ENST00000602234.1_5'UTR	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	220	4 X approximate repeats.|P-domain.				cell differentiation (GO:0030154)|protein folding (GO:0006457)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.T220A(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						TTGTCTTTAGTCTGTTCCCAA	0.443																																					p.T220A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A658G	19						.						114.0	101.0	106.0					19																	16594761		2203	4300	6503	16455761	SO:0001583	missense	125972	exon5			AK058084	CCDS12344.1	19p13.11	2014-09-17				ENSG00000269058			20407	protein-coding gene	gene with protein product	"""cancer/testis antigen 93"", ""calsperin"""	611414				12384296	Standard	NM_145046		Approved	CRT2, FLJ25355, MGC26577, CT93	uc002ned.3	Q96L12		ENST00000269881.3:c.658A>G	19.37:g.16594761T>C	ENSP00000269881:p.Thr220Ala		16455761	NM_145046	D9N574|Q96LN3	Missense_Mutation	SNP	ENST00000269881.3	37	CCDS12344.1	.	.	.	.	.	.	.	.	.	.	T	5.786	0.329407	0.10956	.	.	ENSG00000141979	ENST00000269881	T	0.47869	0.83	4.31	1.98	0.26296	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Calreticulin/calnexin, P (1);	2.205680	0.02564	N	0.097071	T	0.30634	0.0771	N	0.10916	0.065	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24835	-1.0149	10	0.54805	T	0.06	-1.5261	5.2816	0.15678	0.1988:0.6822:0.0:0.1191	.	220	Q96L12	CALR3_HUMAN	A	220	ENSP00000269881:T220A	ENSP00000269881:T220A	T	-	1	0	CALR3	16455761	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	-0.261000	0.08694	0.925000	0.37094	-0.473000	0.04963	ACT		0.443	CALR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461089.1	NM_145046	
SUGP2	10147	hgsc.bcm.edu	37	19	19120997	19120997	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:19120997T>C	ENST00000601879.1	-	5	2302	c.2005A>G	c.(2005-2007)Aac>Gac	p.N669D	SUGP2_ENST00000456085.2_Missense_Mutation_p.N438D|SUGP2_ENST00000337018.6_Missense_Mutation_p.N669D|SUGP2_ENST00000600377.1_Missense_Mutation_p.N683D|SUGP2_ENST00000452918.2_Missense_Mutation_p.N669D			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	669					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.N669D(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						TTCTTGAGGTTGCGGACAGCC	0.647																																					p.N669D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2005G	19						.						95.0	98.0	97.0					19																	19120997		2203	4300	6503	18981997	SO:0001583	missense	10147	exon5			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.2005A>G	19.37:g.19120997T>C	ENSP00000472286:p.Asn669Asp		18981997	NM_014884	C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	ENST00000601879.1	37	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	T	12.08	1.829947	0.32329	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918;ENST00000456085	T;T;T;T	0.11712	2.96;2.96;2.96;2.75	5.49	4.48	0.54585	.	0.420814	0.24771	N	0.035733	T	0.06872	0.0175	N	0.19112	0.55	0.09310	N	1	B;B;B	0.29716	0.255;0.094;0.039	B;B;B	0.24394	0.053;0.016;0.007	T	0.28964	-1.0027	10	0.66056	D	0.02	-7.6338	7.6655	0.28428	0.0:0.1611:0.0:0.8389	.	438;669;669	E7ETX7;A8K5G0;Q8IX01	.;.;SUGP2_HUMAN	D	669;669;669;438	ENSP00000337926:N669D;ENSP00000332373:N669D;ENSP00000389380:N669D;ENSP00000409603:N438D	ENSP00000332373:N669D	N	-	1	0	SUGP2	18981997	0.170000	0.23016	0.425000	0.26659	0.385000	0.30292	2.015000	0.40961	0.946000	0.37632	0.533000	0.62120	AAC		0.647	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392	
ATP13A1	57130	hgsc.bcm.edu	37	19	19770791	19770791	+	Silent	SNP	G	G	A	rs111834843	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:19770791G>A	ENST00000357324.6	-	2	428	c.402C>T	c.(400-402)taC>taT	p.Y134Y	ATP13A1_ENST00000291503.5_Silent_p.Y16Y	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	134						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.Y134Y(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TGCTGGGGTCGTACTCCTGAC	0.572													G|||	6	0.00119808	0.0038	0.0014	5008	,	,		18918	0.0		0.0	False		,,,				2504	0.0				p.Y134Y	Esophageal Squamous(142;920 1789 9047 14684 24777)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C402T	19						.	G		23,4377		0,23,2177	39.0	32.0	34.0		402	-5.6	0.8	19	dbSNP_132	34	0,8592		0,0,4296	no	coding-synonymous	ATP13A1	NM_020410.2		0,23,6473	AA,AG,GG		0.0,0.5227,0.177		134/1205	19770791	23,12969	2200	4296	6496	19631791	SO:0001819	synonymous_variant	57130	exon2			AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.402C>T	19.37:g.19770791G>A			19631791	NM_020410	B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Silent	SNP	ENST00000357324.6	37	CCDS32970.2	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	9.030	0.987064	0.18889	0.005227	0.0	ENSG00000105726	ENST00000455627	.	.	.	4.22	-5.59	0.02505	.	.	.	.	.	T	0.41143	0.1146	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	T	0.47394	-0.9121	4	.	.	.	-6.3171	7.6732	0.28470	0.5249:0.1125:0.3626:0.0	.	.	.	.	M	53	.	.	T	-	2	0	ATP13A1	19631791	0.035000	0.19736	0.840000	0.33206	0.994000	0.84299	-0.573000	0.05874	-1.322000	0.02278	-0.238000	0.12139	ACG		0.572	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410	
GPATCH1	55094	hgsc.bcm.edu	37	19	33586714	33586714	+	Silent	SNP	G	G	A	rs201235380		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:33586714G>A	ENST00000170564.2	+	6	914	c.600G>A	c.(598-600)tcG>tcA	p.S200S		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	200					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)	p.S200S(1)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CTGGAAGCTCGGAAGGATCTG	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		17765	0.0		0.001	False		,,,				2504	0.0				p.S200S	Pancreas(67;88 1713 4567 18227)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G600A	19						.						163.0	163.0	163.0					19																	33586714		2203	4300	6503	38278554	SO:0001819	synonymous_variant	55094	exon6			AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.600G>A	19.37:g.33586714G>A			38278554	NM_018025	Q8IZV6|Q8N3B7|Q9NW94	Silent	SNP	ENST00000170564.2	37	CCDS12428.1																																																																																				0.413	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025	
LSM14A	26065	hgsc.bcm.edu	37	19	34712512	34712512	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:34712512G>T	ENST00000433627.5	+	9	1312	c.1237G>T	c.(1237-1239)Gga>Tga	p.G413*	LSM14A_ENST00000540746.2_Nonsense_Mutation_p.G372*|LSM14A_ENST00000544216.3_Nonsense_Mutation_p.G413*	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	413					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.G413*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					CAGAGGCAGAGGAGGTCTTGG	0.562																																					p.G413X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1237T	19						.						103.0	73.0	83.0					19																	34712512		2203	4300	6503	39404352	SO:0001587	stop_gained	26065	exon9			AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.1237G>T	19.37:g.34712512G>T	ENSP00000413964:p.Gly413*		39404352	NM_001114093	B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Nonsense_Mutation	SNP	ENST00000433627.5	37	CCDS46040.1	.	.	.	.	.	.	.	.	.	.	g	39	7.684073	0.98431	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-19.645	20.4008	0.98991	0.0:0.0:1.0:0.0	.	.	.	.	X	413;413;372	.	ENSP00000314768:G413X	G	+	1	0	LSM14A	39404352	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.398000	0.97281	2.826000	0.97356	0.655000	0.94253	GGA		0.562	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578	
RBM42	79171	hgsc.bcm.edu	37	19	36128377	36128377	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:36128377G>A	ENST00000262633.4	+	10	1469	c.1364G>A	c.(1363-1365)cGc>cAc	p.R455H	RBM42_ENST00000588161.1_Missense_Mutation_p.R425H|RBM42_ENST00000592202.1_Missense_Mutation_p.R401H|RBM42_ENST00000589871.1_Missense_Mutation_p.R433H|RBM42_ENST00000360475.4_Missense_Mutation_p.R426H|RBM42_ENST00000589559.1_Missense_Mutation_p.R361H|RBM42_ENST00000586618.1_Missense_Mutation_p.R159H	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	455	Necessary for interaction with HNRNPK. {ECO:0000250}.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R455H(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ATCAAGCTTCGCAAGAGCATG	0.617																																					p.R455H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1364A	19						.						102.0	100.0	101.0					19																	36128377		2203	4300	6503	40820217	SO:0001583	missense	79171	exon10			BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"""RNA binding motif (RRM) containing"""	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.1364G>A	19.37:g.36128377G>A	ENSP00000262633:p.Arg455His		40820217	NM_024321	O00320|Q8N5R7|Q9BU66	Missense_Mutation	SNP	ENST00000262633.4	37	CCDS12468.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166954	0.78339	.	.	ENSG00000126254	ENST00000262633;ENST00000360475	T;T	0.36878	1.23;1.23	6.07	5.04	0.67666	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.053145	0.64402	D	0.000001	T	0.56108	0.1963	M	0.63428	1.95	0.80722	D	1	P;B;D;B	0.89917	0.939;0.022;1.0;0.013	P;B;D;B	0.79784	0.572;0.011;0.993;0.005	T	0.58923	-0.7550	10	0.62326	D	0.03	-1.9247	13.0371	0.58879	0.0772:0.0:0.9228:0.0	.	421;426;425;455	Q9BTD8-4;Q9BTD8-3;Q9BTD8-2;Q9BTD8	.;.;.;RBM42_HUMAN	H	455;426	ENSP00000262633:R455H;ENSP00000353663:R426H	ENSP00000262633:R455H	R	+	2	0	RBM42	40820217	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.550000	0.98110	1.578000	0.49821	0.655000	0.94253	CGC		0.617	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2	NM_024321	
WDR62	284403	hgsc.bcm.edu	37	19	36557214	36557214	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:36557214C>T	ENST00000270301.7	+	5	446	c.446C>T	c.(445-447)gCg>gTg	p.A149V	WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000401500.2_Missense_Mutation_p.A149V|WDR62_ENST00000388999.3_Missense_Mutation_p.A149V			O43379	WDR62_HUMAN	WD repeat domain 62	149					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.A149V(1)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AATCAGGTGGCGGAGATGCTA	0.562																																					p.A149V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C446T	19						.						178.0	126.0	144.0					19																	36557214		2203	4300	6503	41249054	SO:0001583	missense	284403	exon5			BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.446C>T	19.37:g.36557214C>T	ENSP00000270301:p.Ala149Val		41249054	NM_001083961	Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	C	30	5.057680	0.93846	.	.	ENSG00000075702	ENST00000401500;ENST00000388999;ENST00000378860;ENST00000270301;ENST00000427823	T;T;T;T	0.61392	1.01;0.11;0.11;0.39	5.79	4.76	0.60689	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.104706	0.64402	D	0.000004	T	0.65375	0.2685	L	0.49126	1.545	0.48571	D	0.999671	D;D;P	0.69078	0.99;0.997;0.859	P;P;B	0.60415	0.712;0.874;0.118	T	0.65471	-0.6160	10	0.54805	T	0.06	-25.9058	11.923	0.52803	0.0:0.9172:0.0:0.0828	.	149;149;149	O43379-4;O43379;O43379-3	.;WDR62_HUMAN;.	V	149;149;149;149;171	ENSP00000384792:A149V;ENSP00000373651:A149V;ENSP00000368137:A149V;ENSP00000270301:A149V	ENSP00000270301:A149V	A	+	2	0	WDR62	41249054	0.992000	0.36948	0.991000	0.47740	0.990000	0.78478	3.080000	0.50112	2.765000	0.95021	0.650000	0.86243	GCG		0.562	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671	
ZFP82	284406	hgsc.bcm.edu	37	19	36883829	36883829	+	Silent	SNP	A	A	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:36883829A>T	ENST00000392161.3	-	5	1655	c.1413T>A	c.(1411-1413)atT>atA	p.I471I	ZFP82_ENST00000392171.1_Silent_p.I471I	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	471					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.I471I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CGCCAGTATGAATGCTCTGAT	0.388																																					p.I471I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1413A	19						.						101.0	97.0	98.0					19																	36883829		2203	4300	6503	41575669	SO:0001819	synonymous_variant	284406	exon5			AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.1413T>A	19.37:g.36883829A>T			41575669	NM_133466	Q8NC63|Q8TF53	Silent	SNP	ENST00000392161.3	37	CCDS12493.1																																																																																				0.388	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466	
ZNF566	84924	hgsc.bcm.edu	37	19	36963832	36963832	+	Silent	SNP	T	T	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:36963832T>A	ENST00000434377.2	-	4	294	c.213A>T	c.(211-213)ctA>ctT	p.L71L	ZNF566_ENST00000493391.1_Intron|ZNF566_ENST00000472909.2_Intron|ZNF566_ENST00000392170.2_Silent_p.L72L|ZNF566_ENST00000454319.1_Silent_p.L72L|ZNF566_ENST00000424129.2_Silent_p.L71L	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	71	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.L71L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					GGCCTCTTGTTAGCTCTCTGT	0.468																																					p.L71L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A213T	19						.						291.0	270.0	277.0					19																	36963832		2203	4300	6503	41655672	SO:0001819	synonymous_variant	84924	exon4			AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.213A>T	19.37:g.36963832T>A			41655672	NM_001145344	B7ZL95|Q2M3J1	Silent	SNP	ENST00000434377.2	37	CCDS12494.1																																																																																				0.468	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000341054.1	NM_032838	
ZNF585A	199704	hgsc.bcm.edu	37	19	37643978	37643978	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:37643978A>G	ENST00000356958.4	-	5	1081	c.823T>C	c.(823-825)Tgc>Cgc	p.C275R	ZNF585A_ENST00000392157.2_Missense_Mutation_p.C220R|ZNF585A_ENST00000355533.2_Missense_Mutation_p.C220R|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.C220R			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C220R(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCCTGTCCGCATTCAATACAG	0.438																																					p.C220R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T658C	19						.						222.0	213.0	216.0					19																	37643978		2203	4300	6503	42335818	SO:0001583	missense	199704	exon6			AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.823T>C	19.37:g.37643978A>G	ENSP00000349440:p.Cys275Arg		42335818	NM_199126	Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37		.	.	.	.	.	.	.	.	.	.	A	14.65	2.598655	0.46318	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05	2.88	2.88	0.33553	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40640	N	0.001057	D	0.93468	0.7916	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93466	0.6815	10	0.87932	D	0	.	9.1915	0.37202	1.0:0.0:0.0:0.0	.	275	Q6P3V2	Z585A_HUMAN	R	275;220;220;220	ENSP00000349440:C275R;ENSP00000292841:C220R;ENSP00000375998:C220R;ENSP00000347724:C220R	ENSP00000292841:C220R	C	-	1	0	ZNF585A	42335818	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	6.181000	0.71988	1.320000	0.45209	0.459000	0.35465	TGC		0.438	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655	
SIPA1L3	23094	hgsc.bcm.edu	37	19	38643595	38643595	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:38643595C>T	ENST00000222345.6	+	13	4158	c.3649C>T	c.(3649-3651)Cgc>Tgc	p.R1217C		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1217					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.R1217C(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)			CACCATGGAACGCCAGAAGCC	0.647																																					p.R1217C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3649T	19						.						49.0	50.0	50.0					19																	38643595		2203	4300	6503	43335435	SO:0001583	missense	23094	exon13			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.3649C>T	19.37:g.38643595C>T	ENSP00000222345:p.Arg1217Cys		43335435	NM_015073	Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848586	0.71603	.	.	ENSG00000105738	ENST00000222345	T	0.55588	0.51	5.03	2.65	0.31530	.	0.127449	0.53938	D	0.000054	T	0.52273	0.1724	L	0.50333	1.59	0.49687	D	0.999817	D	0.69078	0.997	P	0.50490	0.642	T	0.56848	-0.7911	10	0.56958	D	0.05	-27.6675	10.9725	0.47446	0.2978:0.7022:0.0:0.0	.	1217	O60292	SI1L3_HUMAN	C	1217	ENSP00000222345:R1217C	ENSP00000222345:R1217C	R	+	1	0	SIPA1L3	43335435	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	0.811000	0.27198	2.342000	0.79632	0.460000	0.39030	CGC		0.647	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278	
RYR1	6261	hgsc.bcm.edu	37	19	38994862	38994862	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:38994862C>T	ENST00000359596.3	+	50	7929	c.7929C>T	c.(7927-7929)ctC>ctT	p.L2643L	RYR1_ENST00000360985.3_Silent_p.L2643L|RYR1_ENST00000355481.4_Silent_p.L2643L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2643	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.L2643L(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCACCCAGCTCCTCACCAACC	0.597																																					p.L2643L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7929T	19						.						62.0	52.0	55.0					19																	38994862		2203	4300	6503	43686702	SO:0001819	synonymous_variant	6261	exon50			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7929C>T	19.37:g.38994862C>T			43686702	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																				0.597	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
RYR1	6261	hgsc.bcm.edu	37	19	39025977	39025977	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:39025977G>A	ENST00000359596.3	+	81	11461	c.11461G>A	c.(11461-11463)Gac>Aac	p.D3821N	RYR1_ENST00000360985.3_Missense_Mutation_p.D3821N|AC067969.2_ENST00000595853.1_RNA|RYR1_ENST00000355481.4_Missense_Mutation_p.D3816N			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3821					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.D3821N(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TTATCTTAAGGACAAGAAGGA	0.502																																					p.D3816N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G11446A	19						.						138.0	118.0	125.0					19																	39025977		2203	4300	6503	43717817	SO:0001583	missense	6261	exon80			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.11461G>A	19.37:g.39025977G>A	ENSP00000352608:p.Asp3821Asn		43717817	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.202908	0.58234	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.92595	-3.07;-3.07;-3.07	4.45	4.45	0.53987	.	0.072585	0.51477	U	0.000082	D	0.90225	0.6944	L	0.50333	1.59	0.48452	D	0.999651	P;P;P	0.46142	0.873;0.873;0.799	B;B;B	0.42361	0.385;0.385;0.214	D	0.91712	0.5382	10	0.66056	D	0.02	.	16.0124	0.80411	0.0:0.0:1.0:0.0	.	3821;3816;3821	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	N	3821;3816;3821	ENSP00000352608:D3821N;ENSP00000347667:D3816N;ENSP00000354254:D3821N	ENSP00000347667:D3816N	D	+	1	0	RYR1	43717817	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.480000	0.81109	2.317000	0.78254	0.555000	0.69702	GAC		0.502	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
FBXO27	126433	hgsc.bcm.edu	37	19	39521869	39521869	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:39521869C>T	ENST00000292853.4	-	3	575	c.456G>A	c.(454-456)acG>acA	p.T152T	FBXO27_ENST00000600828.1_Silent_p.T151T|FBXO27_ENST00000509137.2_Silent_p.T152T|CTB-189B5.3_ENST00000597303.1_RNA	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	152	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)	p.T152T(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TCACGAAGCACGTCTGAGAAG	0.567																																					p.T152T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G456A	19						.						123.0	122.0	122.0					19																	39521869		2203	4300	6503	44213709	SO:0001819	synonymous_variant	126433	exon3			AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"""F-boxes /  ""other"""""	18753	protein-coding gene	gene with protein product		609099	"""F-box only protein 27"""			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.456G>A	19.37:g.39521869C>T			44213709	NM_178820	Q96C87	Silent	SNP	ENST00000292853.4	37	CCDS12527.1																																																																																				0.567	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1		
TIMM50	92609	hgsc.bcm.edu	37	19	39980444	39980444	+	Missense_Mutation	SNP	G	G	A	rs202166024	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:39980444G>A	ENST00000607714.1	+	11	1068	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H	TIMM50_ENST00000544017.1_Missense_Mutation_p.R236H|TIMM50_ENST00000314349.4_Missense_Mutation_p.R452H|TIMM50_ENST00000599794.1_Missense_Mutation_p.R153H			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	349					cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)	p.R452H(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTGTGGCCTCGCTCCAAACAG	0.617													G|||	2	0.000399361	0.0	0.0	5008	,	,		16295	0.0		0.002	False		,,,				2504	0.0				p.R452H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1355A	19						.						52.0	46.0	48.0					19																	39980444		2203	4300	6503	44672284	SO:0001583	missense	92609	exon11			BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	23656	protein-coding gene	gene with protein product		607381	"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000607714.1:c.1046G>A	19.37:g.39980444G>A	ENSP00000475531:p.Arg349His		44672284	NM_001001563	Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Missense_Mutation	SNP	ENST00000607714.1	37		2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	18.56	3.650107	0.67472	.	.	ENSG00000105197	ENST00000314349;ENST00000544017	.	.	.	5.61	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.66297	0.2775	L	0.47716	1.5	0.53688	D	0.999977	D;D	0.71674	0.996;0.998	P;D	0.63703	0.512;0.917	T	0.65138	-0.6241	8	.	.	.	-17.7449	13.3117	0.60384	0.0775:0.0:0.9225:0.0	.	349;452	Q3ZCQ8;Q3ZCQ8-2	TIM50_HUMAN;.	H	452;236	.	.	R	+	2	0	TIMM50	44672284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.227000	0.72282	1.360000	0.45960	0.655000	0.94253	CGC		0.617	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	NM_001001563	
DYRK1B	9149	hgsc.bcm.edu	37	19	40320666	40320666	+	Splice_Site	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:40320666A>G	ENST00000593685.1	-	5	842	c.374T>C	c.(373-375)gTg>gCg	p.V125A	DYRK1B_ENST00000430012.2_Splice_Site_p.V125A|DYRK1B_ENST00000323039.5_Splice_Site_p.V125A|DYRK1B_ENST00000597639.1_Splice_Site_p.V125A|DYRK1B_ENST00000348817.3_Splice_Site_p.V125A			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	125	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.V125A(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)			GGCTTTCACCACCTGTTGGGG	0.552																																					p.V125A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T374C	19						.						95.0	87.0	90.0					19																	40320666		2203	4300	6503	45012506	SO:0001630	splice_region_variant	9149	exon5			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.373-1T>C	19.37:g.40320666A>G			45012506	NM_006483	O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	37	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.220721	0.79464	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.57907	0.37;0.37;0.37	4.19	4.19	0.49359	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.75517	0.3860	M	0.91561	3.22	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.987	D;D;D	0.74674	0.969;0.984;0.928	T	0.80888	-0.1181	10	0.87932	D	0	.	11.2397	0.48962	1.0:0.0:0.0:0.0	.	125;125;125	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	A	125	ENSP00000312789:V125A;ENSP00000221803:V125A;ENSP00000403182:V125A	ENSP00000312789:V125A	V	-	2	0	DYRK1B	45012506	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.187000	0.77730	1.761000	0.52028	0.459000	0.35465	GTG		0.552	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714	Missense_Mutation
HIPK4	147746	hgsc.bcm.edu	37	19	40889903	40889903	+	Silent	SNP	G	G	A	rs143873993		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:40889903G>A	ENST00000291823.2	-	2	893	c.609C>T	c.(607-609)tgC>tgT	p.C203C		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	203	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.C203C(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CAGCCATGACGCAGCCCAGGG	0.642																																					p.C203C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C609T	19						.						77.0	64.0	68.0					19																	40889903		2203	4300	6503	45581743	SO:0001819	synonymous_variant	147746	exon2			BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.609C>T	19.37:g.40889903G>A			45581743	NM_144685	A8K863|Q96M54	Silent	SNP	ENST00000291823.2	37	CCDS12555.1																																																																																				0.642	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685	
PRX	57716	hgsc.bcm.edu	37	19	40902359	40902359	+	Missense_Mutation	SNP	T	T	C	rs575492732|rs201204029	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:40902359T>C	ENST00000324001.7	-	7	2170	c.1900A>G	c.(1900-1902)Atg>Gtg	p.M634V	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	634	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.M634V(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)			GGGAGTTTCATCTCAGGGAGC	0.587																																					p.M634V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1900G	19						.						91.0	104.0	99.0					19																	40902359		2202	4300	6502	45594199	SO:0001583	missense	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.1900A>G	19.37:g.40902359T>C	ENSP00000326018:p.Met634Val		45594199	NM_181882	Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	CCDS33028.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	0.386	-0.925978	0.02377	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01527	4.8	2.6	0.153	0.14897	.	.	.	.	.	T	0.01156	0.0038	N	0.13043	0.29	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.49021	-0.8982	9	0.15066	T	0.55	.	6.8581	0.24052	0.0:0.2371:0.0:0.7629	.	634	Q9BXM0	PRAX_HUMAN	V	634	ENSP00000326018:M634V	ENSP00000326018:M634V	M	-	1	0	PRX	45594199	0.000000	0.05858	0.266000	0.24541	0.953000	0.61014	-1.644000	0.02002	0.113000	0.18004	0.529000	0.55759	ATG		0.587	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956	
CDC34	997	hgsc.bcm.edu	37	19	535881	535881	+	Silent	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:535881C>A	ENST00000215574.4	+	2	440	c.222C>A	c.(220-222)gcC>gcA	p.A74A		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	74					cellular protein modification process (GO:0006464)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of neuron apoptotic process (GO:0043525)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|response to growth factor (GO:0070848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.A74A(1)		large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|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;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CTCCACCAGCCTTTCGGTTCC	0.647																																					p.A74A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C222A	19						.						274.0	271.0	272.0					19																	535881		2203	4300	6503	486881	SO:0001819	synonymous_variant	997	exon2			L22005	CCDS12030.1	19p13.3	2013-01-17	2013-01-17					"""Ubiquitin-conjugating enzymes E2"""	1734	protein-coding gene	gene with protein product		116948	"""cell division cycle 34"", ""cell division cycle 34 homolog (S. cerevisiae)"""			8248134, 16210246	Standard	NM_004359		Approved	E2-CDC34, UBE2R1, UBC3	uc002lov.3	P49427		ENST00000215574.4:c.222C>A	19.37:g.535881C>A			486881	NM_004359	A8K689	Silent	SNP	ENST00000215574.4	37	CCDS12030.1																																																																																				0.647	CDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451889.2	NM_004359	
CYP2A13	1553	hgsc.bcm.edu	37	19	41596038	41596038	+	Missense_Mutation	SNP	G	G	A	rs199643958		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:41596038G>A	ENST00000330436.3	+	3	430	c.430G>A	c.(430-432)Ggc>Agc	p.G144S		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	144					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.G144S(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	GGGCAAGCGCGGCATCGAGGA	0.697																																					p.G144S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G430A	19						.						30.0	31.0	31.0					19																	41596038		2202	4298	6500	46287878	SO:0001583	missense	1553	exon3			U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.430G>A	19.37:g.41596038G>A	ENSP00000332679:p.Gly144Ser		46287878	NM_000766	Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	0.035	-1.309302	0.01342	.	.	ENSG00000197838	ENST00000330436	T	0.66099	-0.19	3.39	3.39	0.38822	.	0.124358	0.56097	U	0.000039	T	0.21801	0.0525	N	0.01086	-1.025	0.09310	N	1	B	0.21309	0.054	B	0.15052	0.012	T	0.37361	-0.9709	10	0.02654	T	1	.	4.3637	0.11215	0.1204:0.0:0.654:0.2256	.	144	Q16696	CP2AD_HUMAN	S	144	ENSP00000332679:G144S	ENSP00000332679:G144S	G	+	1	0	CYP2A13	46287878	0.000000	0.05858	0.990000	0.47175	0.011000	0.07611	-0.635000	0.05471	1.903000	0.55091	0.298000	0.19748	GGC		0.697	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766	
SMG9	56006	hgsc.bcm.edu	37	19	44237802	44237802	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:44237802C>A	ENST00000270066.6	-	11	1528	c.1186G>T	c.(1186-1188)Gcc>Tcc	p.A396S	SMG9_ENST00000601170.1_Missense_Mutation_p.A396S	NM_019108.2	NP_061981.2	Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	396					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|intracellular (GO:0005622)	identical protein binding (GO:0042802)	p.A396S(1)		kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						TGGGAGTGGGCCATGAGCTGG	0.567																																					p.A396S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1186T	19						.						82.0	80.0	81.0					19																	44237802		2203	4300	6503	48929642	SO:0001583	missense	56006	exon11			BC008869	CCDS33043.2	19q13.31	2013-07-02	2013-07-02	2011-06-21	ENSG00000105771	ENSG00000105771			25763	protein-coding gene	gene with protein product		613176	"""chromosome 19 open reading frame 61"", ""smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C19orf61		11230166, 19417104	Standard	NM_019108		Approved	FLJ12886	uc002oxj.2	Q9H0W8	OTTHUMG00000150337	ENST00000270066.6:c.1186G>T	19.37:g.44237802C>A	ENSP00000270066:p.Ala396Ser		48929642	NM_019108	O60429|Q9H9A9	Missense_Mutation	SNP	ENST00000270066.6	37	CCDS33043.2	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225253	0.39300	.	.	ENSG00000105771	ENST00000270066	T	0.61274	0.12	5.75	5.75	0.90469	.	0.125469	0.53938	D	0.000052	T	0.41026	0.1141	N	0.24115	0.695	0.50171	D	0.999859	B	0.02656	0.0	B	0.04013	0.001	T	0.27262	-1.0079	10	0.11794	T	0.64	-13.9552	13.0773	0.59093	0.0:0.8388:0.1612:0.0	.	396	Q9H0W8	SMG9_HUMAN	S	396	ENSP00000270066:A396S	ENSP00000270066:A396S	A	-	1	0	SMG9	48929642	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.868000	0.48436	2.720000	0.93068	0.655000	0.94253	GCC		0.567	SMG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317668.1	NM_019108	
BCAM	4059	hgsc.bcm.edu	37	19	45316842	45316842	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:45316842G>A	ENST00000270233.6	+	6	771	c.749G>A	c.(748-750)cGc>cAc	p.R250H	BCAM_ENST00000589651.1_Missense_Mutation_p.R250H	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	250	Ig-like V-type 2.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)	p.R250H(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CGCCACGGCCGCCTGGACAGC	0.667																																					p.R250H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G749A	19						.						39.0	45.0	43.0					19																	45316842		2194	4295	6489	50008682	SO:0001583	missense	4059	exon6			X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6722	protein-coding gene	gene with protein product		612773	"""Lutheran blood group (Auberger b antigen included)"", ""basal cell adhesion molecule (Lu and Au blood groups)"""	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.749G>A	19.37:g.45316842G>A	ENSP00000270233:p.Arg250His		50008682	NM_001013257	A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	37	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	8.941	0.965821	0.18583	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.60548	0.18;0.22	4.15	1.57	0.23409	Immunoglobulin-like (1);	.	.	.	.	T	0.37919	0.1021	L	0.31294	0.92	0.31424	N	0.673963	B	0.13594	0.008	B	0.04013	0.001	T	0.34825	-0.9813	9	0.35671	T	0.21	-22.8633	2.4365	0.04484	0.2985:0.0:0.4704:0.2311	.	250	P50895	BCAM_HUMAN	H	250	ENSP00000270233:R250H;ENSP00000375817:R250H	ENSP00000270233:R250H	R	+	2	0	BCAM	50008682	0.002000	0.14202	1.000000	0.80357	0.474000	0.32979	-0.892000	0.04131	0.870000	0.35726	0.462000	0.41574	CGC		0.667	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581	
ERCC2	2068	hgsc.bcm.edu	37	19	45860792	45860792	+	Silent	SNP	G	G	A	rs200588470		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:45860792G>A	ENST00000391945.4	-	14	1394	c.1317C>T	c.(1315-1317)gaC>gaT	p.D439D	ERCC2_ENST00000391944.3_Silent_p.D361D	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	439	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.D439D(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)		CCAGCGAGGCGTCCATGCAGC	0.632			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.D439D		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 - coding silent(1)	large_intestine(1)	c.C1317T	19						.	G		0,4406		0,0,2203	69.0	66.0	67.0		1317	-2.4	1.0	19		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ERCC2	NM_000400.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		439/761	45860792	1,13005	2203	4300	6503	50552632	SO:0001819	synonymous_variant	2068	exon14	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.1317C>T	19.37:g.45860792G>A			50552632	NM_000400	Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Silent	SNP	ENST00000391945.4	37	CCDS33049.1																																																																																				0.632	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400	
EML2	24139	hgsc.bcm.edu	37	19	46133209	46133209	+	Splice_Site	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:46133209C>A	ENST00000245925.3	-	7	656	c.606G>T	c.(604-606)aaG>aaT	p.K202N	EML2_ENST00000536630.1_Splice_Site_p.K349N|EML2_ENST00000589876.1_Splice_Site_p.K202N|EML2_ENST00000586902.1_5'UTR|EML2_ENST00000587152.1_Splice_Site_p.K403N	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	202	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.K202N(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GTCACCTCACCTTGACATCCA	0.522																																					p.K349N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1047T	19						.						203.0	123.0	150.0					19																	46133209		2203	4300	6503	50825049	SO:0001630	splice_region_variant	24139	exon10			AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.606+1G>T	19.37:g.46133209C>A			50825049	NM_001193269	B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329694	0.60743	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055;ENST00000399594	T;T;T	0.34275	1.37;1.5;4.97	4.7	4.7	0.59300	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.66147	0.2760	H	0.94734	3.575	0.80722	D	1	D;D;P;D;D	0.67145	0.996;0.971;0.747;0.974;0.971	P;P;B;P;P	0.61477	0.889;0.821;0.327;0.632;0.821	T	0.76231	-0.3035	9	.	.	.	-25.1005	13.08	0.59109	0.0:1.0:0.0:0.0	.	202;368;349;360;202	B7Z918;B7Z3Q9;B7Z3I2;B7Z872;O95834	.;.;.;.;EMAL2_HUMAN	N	349;202;403;360	ENSP00000442365:K349N;ENSP00000245925:K202N;ENSP00000382503:K360N	.	K	-	3	2	EML2	50825049	1.000000	0.71417	0.999000	0.59377	0.265000	0.26407	5.592000	0.67543	2.486000	0.83907	0.298000	0.19748	AAG		0.522	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155	Missense_Mutation
KCNJ14	3770	hgsc.bcm.edu	37	19	48967490	48967490	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:48967490A>G	ENST00000391884.1	+	2	1243	c.767A>G	c.(766-768)gAt>gGt	p.D256G	CTC-273B12.5_ENST00000600529.1_RNA|CTC-273B12.7_ENST00000595676.1_5'Flank|CTC-273B12.5_ENST00000593476.1_RNA|CTC-273B12.5_ENST00000596497.1_RNA|CTC-273B12.6_ENST00000597574.1_lincRNA|CTC-273B12.5_ENST00000600650.1_RNA|KCNJ14_ENST00000342291.2_Missense_Mutation_p.D256G			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	256					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)	p.D256G(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	CAGGATGTGGATGTGGGCTTT	0.597																																					p.D256G	NSCLC(148;170 3504 35216)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A767G	19						.						122.0	90.0	101.0					19																	48967490		2203	4300	6503	53659302	SO:0001583	missense	3770	exon3			BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.767A>G	19.37:g.48967490A>G	ENSP00000375756:p.Asp256Gly		53659302	NM_013348		Missense_Mutation	SNP	ENST00000391884.1	37	CCDS12721.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.869389	0.51588	.	.	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.94046	-3.34;-3.34	5.4	5.4	0.78164	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.055180	0.64402	D	0.000001	D	0.92984	0.7767	M	0.79614	2.46	0.45172	D	0.998182	B	0.15141	0.012	B	0.22601	0.04	D	0.90935	0.4793	10	0.66056	D	0.02	.	13.6947	0.62569	1.0:0.0:0.0:0.0	.	256	Q9UNX9	IRK14_HUMAN	G	256	ENSP00000341479:D256G;ENSP00000375756:D256G	ENSP00000341479:D256G	D	+	2	0	KCNJ14	53659302	1.000000	0.71417	0.997000	0.53966	0.491000	0.33493	9.339000	0.96797	2.198000	0.70561	0.533000	0.62120	GAT		0.597	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	NM_013348	
SAFB2	9667	hgsc.bcm.edu	37	19	5595389	5595389	+	Silent	SNP	G	G	A	rs371849776		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:5595389G>A	ENST00000252542.4	-	14	2166	c.1902C>T	c.(1900-1902)cgC>cgT	p.R634R		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	634	Arg-rich.|Glu-rich.|Interacts with SAFB1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R634R(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TCTCCGTTTCGCGGATCTCCC	0.562																																					p.R634R	Ovarian(127;888 1728 23957 44128 52668)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1902T	19						.	T		1,4405		0,1,2202	114.0	94.0	100.0		1902	-4.8	0.9	19		100	0,8600		0,0,4300	no	coding-synonymous	SAFB2	NM_014649.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		634/954	5595389	1,13005	2203	4300	6503	5546389	SO:0001819	synonymous_variant	9667	exon14			D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.1902C>T	19.37:g.5595389G>A			5546389	NM_014649	B4DKG3|Q8TB13	Silent	SNP	ENST00000252542.4	37	CCDS32879.1																																																																																				0.562	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649	
RASIP1	54922	hgsc.bcm.edu	37	19	49227634	49227634	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:49227634G>T	ENST00000222145.4	-	10	2708	c.2504C>A	c.(2503-2505)gCt>gAt	p.A835D		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	835	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)		p.A835D(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CAGGTTCACAGCCATGGAGAG	0.587																																					p.A835D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2504A	19						.						91.0	83.0	86.0					19																	49227634		2203	4300	6503	53919446	SO:0001583	missense	54922	exon10			BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.2504C>A	19.37:g.49227634G>T	ENSP00000222145:p.Ala835Asp		53919446	NM_017805	Q6U676	Missense_Mutation	SNP	ENST00000222145.4	37	CCDS12731.1	.	.	.	.	.	.	.	.	.	.	g	22.1	4.240969	0.79912	.	.	ENSG00000105538	ENST00000222145	T	0.32023	1.47	5.11	5.11	0.69529	Dilute (1);Dil domain (1);	0.265179	0.36101	N	0.002799	T	0.48314	0.1493	L	0.43923	1.385	0.37833	D	0.928776	D	0.76494	0.999	D	0.72982	0.979	T	0.53107	-0.8485	10	0.72032	D	0.01	0.246	16.4672	0.84083	0.0:0.0:1.0:0.0	.	835	Q5U651	RAIN_HUMAN	D	835	ENSP00000222145:A835D	ENSP00000222145:A835D	A	-	2	0	RASIP1	53919446	0.988000	0.35896	1.000000	0.80357	0.712000	0.41017	4.948000	0.63590	2.570000	0.86706	0.550000	0.68814	GCT		0.587	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805	
POLD1	5424	hgsc.bcm.edu	37	19	50918720	50918720	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:50918720G>A	ENST00000440232.2	+	21	2643	c.2590G>A	c.(2590-2592)Gca>Aca	p.A864T	POLD1_ENST00000599857.1_Missense_Mutation_p.A864T|CTD-2545M3.6_ENST00000599632.1_5'Flank|POLD1_ENST00000595904.1_Missense_Mutation_p.A890T	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	864			A -> T (found in a colorectal sample; somatic mutation). {ECO:0000269|PubMed:23263490}.		base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.A864T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGTGGCTCACGCACAGGACGT	0.657								DNA polymerases (catalytic subunits)																													p.A864T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2590A	19						.						41.0	33.0	36.0					19																	50918720		2200	4296	6496	55610532	SO:0001583	missense	5424	exon21				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2590G>A	19.37:g.50918720G>A	ENSP00000406046:p.Ala864Thr		55610532	NM_002691	Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058756	0.36277	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.17370	2.28	4.25	4.25	0.50352	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.059524	0.64402	D	0.000004	T	0.13457	0.0326	L	0.31804	0.96	0.80722	D	1	B;B	0.33135	0.399;0.219	B;B	0.32805	0.153;0.153	T	0.11941	-1.0567	10	0.20046	T	0.44	-7.2035	15.8183	0.78621	0.0:0.0:1.0:0.0	.	890;864	E7EVW0;P28340	.;DPOD1_HUMAN	T	864;865	ENSP00000406046:A864T	ENSP00000366129:A865T	A	+	1	0	POLD1	55610532	1.000000	0.71417	0.189000	0.23252	0.024000	0.10985	7.102000	0.77005	2.114000	0.64651	0.450000	0.29827	GCA		0.657	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1		
SIGLEC6	946	hgsc.bcm.edu	37	19	52034606	52034606	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:52034606T>C	ENST00000425629.3	-	2	389	c.235A>G	c.(235-237)Aac>Gac	p.N79D	SIGLEC6_ENST00000346477.3_Missense_Mutation_p.N79D|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.N43D|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.N79D|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.N79D|SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.N79D	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	79	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.N68D(1)|p.N79D(1)		endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TCTGGGTCGTTTGTGGCCACT	0.587																																					p.N79D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A235G	19						.						67.0	72.0	71.0					19																	52034606		2196	4299	6495	56726418	SO:0001583	missense	946	exon2			D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.235A>G	19.37:g.52034606T>C	ENSP00000401502:p.Asn79Asp		56726418	NM_001245	A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	T	17.99	3.524019	0.64747	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000436458;ENST00000343300;ENST00000426829	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	3.19	3.19	0.36642	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.174587	0.27027	N	0.021283	T	0.73908	0.3647	M	0.83692	2.655	0.20403	N	0.999909	P;P;P;P;P;P;P	0.51351	0.94;0.944;0.889;0.758;0.931;0.865;0.944	P;P;P;P;P;P;P	0.58873	0.649;0.761;0.847;0.519;0.649;0.649;0.761	T	0.64533	-0.6385	10	0.62326	D	0.03	.	8.0575	0.30614	0.0:0.0:0.0:1.0	.	79;43;79;79;79;79;79	F8WA78;C9JBE5;C9JUT6;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;.;SIGL6_HUMAN	D	68;79;79;79;43;79;79	ENSP00000375674:N79D;ENSP00000401502:N79D;ENSP00000353071:N79D;ENSP00000410679:N43D;ENSP00000345907:N79D	ENSP00000345907:N79D	N	-	1	0	SIGLEC6	56726418	0.036000	0.19791	0.474000	0.27266	0.146000	0.21551	0.760000	0.26475	1.459000	0.47892	0.254000	0.18369	AAC		0.587	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245	
FPR2	2358	hgsc.bcm.edu	37	19	52271987	52271987	+	Missense_Mutation	SNP	C	C	T	rs367971570		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:52271987C>T	ENST00000598776.1	+	2	848	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	FPR2_ENST00000598953.1_Missense_Mutation_p.R26W|FPR2_ENST00000340023.6_Missense_Mutation_p.R26W	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	26					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)	p.R26W(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CACTGTTCTGCGGATCCTCCC	0.532																																					p.R26W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C76T	19						.	C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	185.0	154.0	164.0		76,76	-3.2	0.0	19		164	1,8599		0,1,4299	no	missense,missense	FPR2	NM_001462.3,NM_001005738.1	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	26/352,26/352	52271987	1,13005	2203	4300	6503	56963799	SO:0001583	missense	2358	exon2			M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.76C>T	19.37:g.52271987C>T	ENSP00000468897:p.Arg26Trp		56963799	NM_001462	A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	CCDS12840.1	.	.	.	.	.	.	.	.	.	.	.	10.61	1.399411	0.25291	0.0	1.16E-4	ENSG00000171049	ENST00000340023	T	0.39229	1.09	2.98	-3.25	0.05079	.	2.414700	0.01780	N	0.031706	T	0.20740	0.0499	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.09271	-1.0682	10	0.34782	T	0.22	.	3.1744	0.06564	0.3202:0.3931:0.0:0.2867	.	26	P25090	FPR2_HUMAN	W	26	ENSP00000340191:R26W	ENSP00000340191:R26W	R	+	1	2	FPR2	56963799	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-0.815000	0.04481	-0.544000	0.06232	0.491000	0.48974	CGG		0.532	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738	
ZNF160	90338	hgsc.bcm.edu	37	19	53571384	53571384	+	Silent	SNP	A	A	G	rs200822039		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:53571384A>G	ENST00000429604.1	-	7	2818	c.2403T>C	c.(2401-2403)agT>agC	p.S801S	ZNF160_ENST00000601421.1_Silent_p.S765S|ZNF160_ENST00000418871.1_Silent_p.S801S|ZNF160_ENST00000599056.1_Silent_p.S801S	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	801					hemopoiesis (GO:0030097)|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.S801S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		CAAGATTTGAACTCTGCCTGA	0.418																																					p.S801S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2403C	19						.						173.0	157.0	162.0					19																	53571384		2203	4300	6503	58263196	SO:0001819	synonymous_variant	90338	exon7			X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.2403T>C	19.37:g.53571384A>G			58263196	NM_198893	Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Silent	SNP	ENST00000429604.1	37	CCDS12859.1																																																																																				0.418	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288	
ZNF677	342926	hgsc.bcm.edu	37	19	53741429	53741429	+	Missense_Mutation	SNP	A	A	G	rs544594878		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:53741429A>G	ENST00000598513.1	-	5	701	c.551T>C	c.(550-552)gTg>gCg	p.V184A	ZNF677_ENST00000333952.4_Missense_Mutation_p.V184A|CTD-2245F17.6_ENST00000596041.1_RNA	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	184					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.V184A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		AAAACACTTCACGTATTTGTT	0.343													A|||	1	0.000199681	0.0	0.0014	5008	,	,		19304	0.0		0.0	False		,,,				2504	0.0				p.V184A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T551C	19						.						72.0	69.0	70.0					19																	53741429		2202	4300	6502	58433241	SO:0001583	missense	342926	exon5			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.551T>C	19.37:g.53741429A>G	ENSP00000469391:p.Val184Ala		58433241	NM_182609		Missense_Mutation	SNP	ENST00000598513.1	37	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	A	5.382	0.255630	0.10185	.	.	ENSG00000197928	ENST00000333952	T	0.07567	3.18	2.43	0.278	0.15673	.	1.846180	0.03722	N	0.251949	T	0.04907	0.0132	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.09377	0.004	T	0.39542	-0.9609	10	0.72032	D	0.01	.	3.9175	0.09230	0.4041:0.4562:0.1397:0.0	.	184	Q86XU0	ZN677_HUMAN	A	184	ENSP00000334394:V184A	ENSP00000334394:V184A	V	-	2	0	ZNF677	58433241	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.642000	0.24735	-0.008000	0.14320	0.533000	0.62120	GTG		0.343	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609	
MYADM	91663	hgsc.bcm.edu	37	19	54377223	54377223	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:54377223C>T	ENST00000391769.2	+	3	720	c.440C>T	c.(439-441)gCg>gTg	p.A147V	MYADM_ENST00000391768.2_Missense_Mutation_p.A147V|MYADM_ENST00000336967.3_Missense_Mutation_p.A147V|AC008440.5_ENST00000413496.2_RNA|MYADM_ENST00000391770.4_Missense_Mutation_p.A147V|MYADM_ENST00000391771.1_Missense_Mutation_p.A147V	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	147	MARVEL 1. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.A147V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		TCCTGCATCGCGTGTGTGGCT	0.662																																					p.A147V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C440T	19						.						60.0	60.0	60.0					19																	54377223		2203	4300	6503	59069035	SO:0001583	missense	91663	exon3			AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.440C>T	19.37:g.54377223C>T	ENSP00000375649:p.Ala147Val		59069035	NM_001020820	B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Missense_Mutation	SNP	ENST00000391769.2	37	CCDS12866.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661189	0.67700	.	.	ENSG00000179820	ENST00000421337;ENST00000336967;ENST00000391770;ENST00000448420;ENST00000439000;ENST00000391771;ENST00000415619;ENST00000391769;ENST00000391768	T;T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6	4.21	4.21	0.49690	Marvel (1);MARVEL-like domain (1);	0.070610	0.56097	D	0.000029	T	0.44540	0.1298	L	0.48642	1.525	0.58432	D	0.999991	D	0.71674	0.998	P	0.60682	0.878	T	0.44267	-0.9339	10	0.66056	D	0.02	-13.6341	14.4576	0.67428	0.0:1.0:0.0:0.0	.	147	Q96S97	MYADM_HUMAN	V	147;147;147;147;147;147;110;147;147	ENSP00000398269:A147V;ENSP00000337222:A147V;ENSP00000375650:A147V;ENSP00000399722:A147V;ENSP00000416919:A147V;ENSP00000375651:A147V;ENSP00000375649:A147V;ENSP00000375648:A147V	ENSP00000337222:A147V	A	+	2	0	MYADM	59069035	0.991000	0.36638	0.029000	0.17559	0.199000	0.23934	3.387000	0.52501	2.080000	0.62538	0.313000	0.20887	GCG		0.662	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1	NM_138373	
VSTM1	284415	hgsc.bcm.edu	37	19	54545538	54545538	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:54545538G>A	ENST00000338372.2	-	5	655	c.480C>T	c.(478-480)agC>agT	p.S160S	VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Intron|VSTM1_ENST00000366170.2_Silent_p.S72S	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	160					immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.S160S(1)		breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		CACTGTGCTGGCTGCATCTGT	0.493																																					p.S160S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C480T	19						.						93.0	82.0	86.0					19																	54545538		2203	4300	6503	59237350	SO:0001819	synonymous_variant	284415	exon5			AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.480C>T	19.37:g.54545538G>A			59237350	NM_198481	B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Silent	SNP	ENST00000338372.2	37	CCDS12872.1																																																																																				0.493	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	NM_198481	
LILRA4	23547	hgsc.bcm.edu	37	19	54845188	54845188	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:54845188G>T	ENST00000291759.4	-	7	1360	c.1304C>A	c.(1303-1305)aCt>aAt	p.T435N	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	435					immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.T435N(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TCACTCACCAGTCTTGGAATC	0.527																																					p.T435N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1304A	19						.						157.0	131.0	140.0					19																	54845188		2203	4300	6503	59537000	SO:0001583	missense	23547	exon7			AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.1304C>A	19.37:g.54845188G>T	ENSP00000291759:p.Thr435Asn		59537000	NM_012276	Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	5.599	0.295352	0.10622	.	.	ENSG00000239961	ENST00000291759	T	0.00502	6.95	2.84	-5.67	0.02444	.	.	.	.	.	T	0.00412	0.0013	L	0.58101	1.795	0.09310	N	1	B	0.33739	0.422	B	0.28011	0.085	T	0.16778	-1.0391	9	0.32370	T	0.25	.	7.806	0.29202	0.0:0.2219:0.5614:0.2166	.	435	P59901	LIRA4_HUMAN	N	435	ENSP00000291759:T435N	ENSP00000291759:T435N	T	-	2	0	LILRA4	59537000	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.747000	0.01827	-1.524000	0.01764	-0.300000	0.09419	ACT		0.527	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276	
TTYH1	57348	hgsc.bcm.edu	37	19	54946769	54946769	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:54946769C>T	ENST00000376530.3	+	11	1276	c.1173C>T	c.(1171-1173)ggC>ggT	p.G391G	TTYH1_ENST00000391739.3_Missense_Mutation_p.P422S|TTYH1_ENST00000301194.4_Silent_p.G391G|CTD-2587H19.3_ENST00000597355.1_lincRNA|TTYH1_ENST00000376531.3_Silent_p.G391G|AC008746.3_ENST00000457113.1_RNA|TTYH1_ENST00000489425.1_3'UTR|CTD-2587H19.2_ENST00000596631.1_RNA	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	391					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)	p.G391G(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		CCCTGGAAGGCCTGCTCTTCC	0.687																																					p.G391G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1173T	19						.						53.0	39.0	44.0					19																	54946769		2203	4300	6503	59638581	SO:0001819	synonymous_variant	57348	exon11			AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"""tweety (Drosophila) homolog 1"", ""tweety homolog 1 (Drosophila)"""			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.1173C>T	19.37:g.54946769C>T			59638581	NM_001005367	B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Silent	SNP	ENST00000376530.3	37	CCDS12893.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399893	0.42613	.	.	ENSG00000167614	ENST00000391739	T	0.17213	2.29	4.37	2.18	0.27775	.	.	.	.	.	T	0.09774	0.0240	.	.	.	0.23356	N	0.997847	B	0.09022	0.002	B	0.04013	0.001	T	0.38607	-0.9653	8	0.20046	T	0.44	-21.7733	7.2568	0.26181	0.1679:0.7391:0.0:0.093	.	422	B7Z1H9	.	S	422	ENSP00000375619:P422S	ENSP00000375619:P422S	P	+	1	0	TTYH1	59638581	0.370000	0.25047	1.000000	0.80357	0.919000	0.55068	-0.730000	0.04915	0.397000	0.25310	0.561000	0.74099	CCT		0.687	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1		
NLRP11	204801	hgsc.bcm.edu	37	19	56321607	56321607	+	Silent	SNP	G	G	A	rs538939076		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:56321607G>A	ENST00000589093.1	-	3	462	c.369C>T	c.(367-369)gaC>gaT	p.D123D	NLRP11_ENST00000360133.3_Silent_p.D123D|NLRP11_ENST00000589824.2_Silent_p.D123D|NLRP11_ENST00000592953.1_Silent_p.D24D|NLRP11_ENST00000443188.1_Silent_p.D123D			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	123							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.D123D(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CTGACGAAACGTCACGAAAAA	0.383																																					p.D123D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C369T	19						.						44.0	43.0	43.0					19																	56321607		2203	4300	6503	61013419	SO:0001819	synonymous_variant	204801	exon5			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.369C>T	19.37:g.56321607G>A			61013419	NM_145007	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Silent	SNP	ENST00000589093.1	37	CCDS12935.1																																																																																				0.383	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007	
NLRP4	147945	hgsc.bcm.edu	37	19	56369444	56369444	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:56369444G>A	ENST00000301295.6	+	3	1107	c.685G>A	c.(685-687)Gtc>Atc	p.V229I	NLRP4_ENST00000587891.1_Missense_Mutation_p.V154I|NLRP4_ENST00000346986.5_Missense_Mutation_p.V229I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	229	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				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.V229I(3)		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)		ACTCTTGTTCGTCATCGACAG	0.557																																					p.V229I												.	.	3	Substitution - Missense(3)	large_intestine(2)|ovary(1)	c.G685A	19						.						81.0	80.0	81.0					19																	56369444		2203	4300	6503	61061256	SO:0001583	missense	147945	exon3			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.685G>A	19.37:g.56369444G>A	ENSP00000301295:p.Val229Ile		61061256	NM_134444	Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.491014	0.01009	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.83992	-1.79;-1.79	4.1	-2.63	0.06133	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.51568	0.1682	N	0.02854	-0.475	0.23876	N	0.996597	B;B;B	0.27997	0.0;0.0;0.197	B;B;B	0.24006	0.0;0.001;0.05	T	0.50947	-0.8767	9	0.02654	T	1	.	4.8964	0.13753	0.448:0.2809:0.271:0.0	.	229;154;229	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	I	229	ENSP00000301295:V229I;ENSP00000344787:V229I	ENSP00000301295:V229I	V	+	1	0	NLRP4	61061256	0.159000	0.22864	0.009000	0.14445	0.166000	0.22503	-0.124000	0.10595	-0.811000	0.04369	-0.302000	0.09304	GTC		0.557	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444	
NLRP8	126205	hgsc.bcm.edu	37	19	56466308	56466308	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:56466308T>G	ENST00000291971.3	+	3	955	c.884T>G	c.(883-885)cTc>cGc	p.L295R	NLRP8_ENST00000590542.1_Missense_Mutation_p.L295R	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	295	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.L295R(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)		ACATCTACCCTCATTGACAGA	0.517																																					p.L295R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T884G	19						.						153.0	149.0	150.0					19																	56466308		2203	4300	6503	61158120	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.884T>G	19.37:g.56466308T>G	ENSP00000291971:p.Leu295Arg		61158120	NM_176811	Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	T	11.25	1.583694	0.28268	.	.	ENSG00000179709	ENST00000291971	T	0.24723	1.84	2.04	0.92	0.19397	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.42675	0.1213	M	0.72576	2.205	0.09310	N	1	D;D	0.76494	0.998;0.999	D;D	0.80764	0.928;0.994	T	0.17653	-1.0362	9	0.62326	D	0.03	.	4.002	0.09584	0.3197:0.0:0.0:0.6803	.	295;295	Q86W28-2;Q86W28	.;NALP8_HUMAN	R	295	ENSP00000291971:L295R	ENSP00000291971:L295R	L	+	2	0	NLRP8	61158120	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.628000	0.24522	0.197000	0.20387	0.421000	0.28195	CTC		0.517	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811	
ZNF583	147949	hgsc.bcm.edu	37	19	56934915	56934915	+	Silent	SNP	T	T	C	rs200558791		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:56934915T>C	ENST00000333201.9	+	5	1098	c.888T>C	c.(886-888)taT>taC	p.Y296Y	ZNF583_ENST00000585612.1_3'UTR|ZNF583_ENST00000291598.7_Silent_p.Y296Y	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	296					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.Y296Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		AGAAACCTTATCAGTGTAAAG	0.433																																					p.Y296Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T888C	19						.						69.0	72.0	71.0					19																	56934915		2203	4300	6503	61626727	SO:0001819	synonymous_variant	147949	exon5			AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.888T>C	19.37:g.56934915T>C			61626727	NM_001159860	O14850|Q2NKK3	Silent	SNP	ENST00000333201.9	37	CCDS12943.1																																																																																				0.433	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478	
ZNF667	63934	hgsc.bcm.edu	37	19	56952725	56952725	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:56952725T>C	ENST00000504904.3	-	7	2358	c.1639A>G	c.(1639-1641)Aga>Gga	p.R547G	ZNF667_ENST00000292069.6_Missense_Mutation_p.R547G|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.R675G			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	547					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.R547G(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)		GTATGACTTCTTTCATGTAGA	0.423																																					p.R547G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1639G	19						.						95.0	87.0	90.0					19																	56952725		2203	4300	6503	61644537	SO:0001583	missense	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.1639A>G	19.37:g.56952725T>C	ENSP00000439402:p.Arg547Gly		61644537	NM_022103	B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	T	16.15	3.041311	0.55003	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518;ENST00000360227	T;T;T	0.24723	1.84;1.84;1.84	4.66	4.66	0.58398	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44483	D	0.000455	T	0.54515	0.1863	M	0.86502	2.82	0.41222	D	0.986511	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.63060	-0.6721	10	0.72032	D	0.01	-19.1526	12.0793	0.53662	0.0:0.0:0.0:1.0	.	675;547	E7EPS0;Q5HYK9	.;ZN667_HUMAN	G	675;547;547;329;262	ENSP00000344699:R675G;ENSP00000439402:R547G;ENSP00000292069:R547G	ENSP00000292069:R547G	R	-	1	2	ZNF667	61644537	0.000000	0.05858	0.962000	0.40283	0.397000	0.30659	-0.079000	0.11357	1.943000	0.56356	0.533000	0.62120	AGA		0.423	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103	
TNFSF14	8740	hgsc.bcm.edu	37	19	6665210	6665210	+	Silent	SNP	G	G	A	rs202058726		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:6665210G>A	ENST00000599359.1	-	5	831	c.450C>T	c.(448-450)ggC>ggT	p.G150G	TNFSF14_ENST00000245912.3_Silent_p.G114G|TNFSF14_ENST00000326176.9_Silent_p.G114G			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	150					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)	p.G150G(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						AGCCCACACCGCCCAGCTGCA	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		16077	0.001		0.0	False		,,,				2504	0.0				p.G150G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C450T	19						.						52.0	43.0	46.0					19																	6665210		2203	4300	6503	6616210	SO:0001819	synonymous_variant	8740	exon5			AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.450C>T	19.37:g.6665210G>A			6616210	NM_003807	A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Silent	SNP	ENST00000599359.1	37	CCDS12171.1																																																																																				0.657	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1		
STXBP2	6813	hgsc.bcm.edu	37	19	7707899	7707899	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:7707899A>G	ENST00000221283.5	+	12	1022	c.991A>G	c.(991-993)Aaa>Gaa	p.K331E	STXBP2_ENST00000602355.1_5'Flank|STXBP2_ENST00000414284.2_Missense_Mutation_p.K328E|STXBP2_ENST00000441779.2_Missense_Mutation_p.K342E	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	331					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)	p.K331E(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCAGATCCTGAAAAAGATGCC	0.607																																					p.K331E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A991G	19						.						122.0	125.0	124.0					19																	7707899		2203	4300	6503	7613899	SO:0001583	missense	6813	exon12			U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.991A>G	19.37:g.7707899A>G	ENSP00000221283:p.Lys331Glu		7613899	NM_006949	B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	37	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	A	18.46	3.629911	0.67015	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.79454	-1.27;-1.27;-1.27	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.88789	0.6532	M	0.88241	2.94	0.80722	D	1	D;B;D;D	0.89917	1.0;0.226;1.0;1.0	D;B;D;D	0.78314	0.991;0.349;0.985;0.991	D	0.90582	0.4530	10	0.87932	D	0	-11.6082	12.1349	0.53966	1.0:0.0:0.0:0.0	.	342;297;328;331	E7EQD5;B4DY46;Q15833-2;Q15833	.;.;.;STXB2_HUMAN	E	331;328;342;331	ENSP00000221283:K331E;ENSP00000409471:K328E;ENSP00000413606:K342E	ENSP00000221283:K331E	K	+	1	0	STXBP2	7613899	1.000000	0.71417	1.000000	0.80357	0.248000	0.25809	9.144000	0.94629	1.762000	0.52044	0.377000	0.23210	AAA		0.607	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949	
SNAPC2	6618	hgsc.bcm.edu	37	19	7987384	7987384	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:7987384T>C	ENST00000221573.6	+	5	791	c.740T>C	c.(739-741)cTg>cCg	p.L247P	SNAPC2_ENST00000597584.1_Missense_Mutation_p.L10P	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	247					gene expression (GO:0010467)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L247P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CTGCCACTCCTGCCCTGCACA	0.632																																					p.L247P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T740C	19						.						76.0	69.0	71.0					19																	7987384		2203	4300	6503	7893384	SO:0001583	missense	6618	exon5			U44898	CCDS12190.1	19p13	2008-07-22	2002-08-29			ENSG00000104976			11135	protein-coding gene	gene with protein product		605076	"""small nuclear RNA activating complex, polypeptide 2, 45kD"""			8633057	Standard	NM_003083		Approved	SNAP45, PTFdelta	uc002miw.2	Q13487		ENST00000221573.6:c.740T>C	19.37:g.7987384T>C	ENSP00000221573:p.Leu247Pro		7893384	NM_003083	B2RBZ6|D6W663|Q13486	Missense_Mutation	SNP	ENST00000221573.6	37	CCDS12190.1	.	.	.	.	.	.	.	.	.	.	t	14.82	2.649192	0.47362	.	.	ENSG00000104976	ENST00000221573	T	0.60299	0.2	4.44	4.44	0.53790	.	0.000000	0.56097	D	0.000025	T	0.72859	0.3513	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75886	-0.3159	10	0.87932	D	0	-13.6281	10.0144	0.42006	0.0:0.0:0.0:1.0	.	247	Q13487	SNPC2_HUMAN	P	247	ENSP00000221573:L247P	ENSP00000221573:L247P	L	+	2	0	SNAPC2	7893384	0.996000	0.38824	0.991000	0.47740	0.096000	0.18686	1.764000	0.38471	1.858000	0.53909	0.370000	0.22315	CTG		0.632	SNAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461358.1	NM_003083	
FBN3	84467	hgsc.bcm.edu	37	19	8176045	8176045	+	Silent	SNP	G	G	A	rs142576414	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:8176045G>A	ENST00000600128.1	-	33	4521	c.4107C>T	c.(4105-4107)aaC>aaT	p.N1369N	FBN3_ENST00000270509.2_Silent_p.N1369N|FBN3_ENST00000601739.1_Silent_p.N1369N			Q75N90	FBN3_HUMAN	fibrillin 3	1369	EGF-like 21; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.N1369N(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGAGGTCCACGTTCTCGGCAC	0.662													G|||	3	0.000599042	0.0	0.0014	5008	,	,		18486	0.0		0.002	False		,,,				2504	0.0				p.N1369N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4107T	19						.	G		1,4405	2.1+/-5.4	0,1,2202	79.0	70.0	73.0		4107	-1.3	0.1	19	dbSNP_134	73	10,8590	7.7+/-29.5	0,10,4290	no	coding-synonymous	FBN3	NM_032447.3		0,11,6492	AA,AG,GG		0.1163,0.0227,0.0846		1369/2810	8176045	11,12995	2203	4300	6503	8082045	SO:0001819	synonymous_variant	84467	exon32				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4107C>T	19.37:g.8176045G>A			8082045	NM_032447	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1																																																																																				0.662	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
FBN3	84467	hgsc.bcm.edu	37	19	8203373	8203373	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:8203373C>T	ENST00000600128.1	-	9	1355	c.941G>A	c.(940-942)cGc>cAc	p.R314H	FBN3_ENST00000270509.2_Missense_Mutation_p.R314H|FBN3_ENST00000601739.1_Missense_Mutation_p.R314H			Q75N90	FBN3_HUMAN	fibrillin 3	314	TB 2.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R314H(2)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCACTGCCTGCGAGTGTAGTG	0.662																																					p.R314H												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.G941A	19						.						25.0	27.0	26.0					19																	8203373		2203	4299	6502	8109373	SO:0001583	missense	84467	exon8				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.941G>A	19.37:g.8203373C>T	ENSP00000470498:p.Arg314His		8109373	NM_032447	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	12.23	1.876508	0.33162	.	.	ENSG00000142449	ENST00000270509	D	0.92911	-3.13	4.06	-1.48	0.08745	Matrix fibril-associated (3);TGF-beta binding (1);	0.360841	0.26975	N	0.021550	T	0.78585	0.4306	N	0.04297	-0.235	0.21256	N	0.999746	B	0.17268	0.021	B	0.12837	0.008	T	0.68330	-0.5437	10	0.44086	T	0.13	.	9.5159	0.39104	0.0:0.3433:0.0:0.6567	.	314	Q75N90	FBN3_HUMAN	H	314	ENSP00000270509:R314H	ENSP00000270509:R314H	R	-	2	0	FBN3	8109373	0.995000	0.38212	0.160000	0.22671	0.578000	0.36192	0.461000	0.21940	-0.132000	0.11557	-0.261000	0.10672	CGC		0.662	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
PIN1	5300	hgsc.bcm.edu	37	19	9958734	9958734	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:9958734G>T	ENST00000247970.4	+	3	322	c.300G>T	c.(298-300)gaG>gaT	p.E100D	PIN1_ENST00000588695.1_Missense_Mutation_p.E100D|PIN1_ENST00000380889.6_3'UTR|PIN1_ENST00000587625.1_Missense_Mutation_p.E100D	NM_006221.3	NP_006212.1	Q13526	PIN1_HUMAN	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	100	PpiC. {ECO:0000255|PROSITE- ProRule:PRU00278}.				cell cycle (GO:0007049)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|negative regulation of cell motility (GO:2000146)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of cytokinesis (GO:0032465)|regulation of mitosis (GO:0007088)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase activating protein binding (GO:0032794)|mitogen-activated protein kinase kinase binding (GO:0031434)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)	p.E100D(1)		skin(3)	3						AGTCGGGAGAGGAGGACTTTG	0.612											OREG0025226	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E100D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G300T	19						.						80.0	67.0	71.0					19																	9958734		2203	4300	6503	9819734	SO:0001583	missense	5300	exon3				CCDS12220.1	19p13	2014-09-17	2008-03-25		ENSG00000127445	ENSG00000127445			8988	protein-coding gene	gene with protein product		601052	"""protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1"""			8606777	Standard	NM_006221		Approved	dod	uc002mml.2	Q13526		ENST00000247970.4:c.300G>T	19.37:g.9958734G>T	ENSP00000247970:p.Glu100Asp	660	9819734	NM_006221	A8K4V9|Q53X75	Missense_Mutation	SNP	ENST00000247970.4	37	CCDS12220.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.349363	0.41599	.	.	ENSG00000127445	ENST00000247970;ENST00000424497	T	0.49720	0.77	3.94	0.349	0.16032	Peptidyl-prolyl cis-trans isomerase, PpiC-type (2);	0.326898	0.27986	N	0.017060	T	0.36991	0.0987	M	0.68317	2.08	0.44798	D	0.997802	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.17098	0.017;0.003;0.017	T	0.11518	-1.0584	9	.	.	.	-24.5981	2.8006	0.05413	0.3608:0.0:0.4366:0.2026	.	100;100;100	B3KUM4;Q13526;E7EQR5	.;PIN1_HUMAN;.	D	100	ENSP00000247970:E100D	.	E	+	3	2	PIN1	9819734	0.850000	0.29656	1.000000	0.80357	0.995000	0.86356	-0.079000	0.11357	0.342000	0.23796	0.462000	0.41574	GAG		0.612	PIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451107.1		
RDH8	50700	hgsc.bcm.edu	37	19	10132262	10132262	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:10132262A>G	ENST00000171214.1	+	6	1022	c.773A>G	c.(772-774)aAc>aGc	p.N258S	RDH8_ENST00000591589.1_Missense_Mutation_p.N278S	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	258					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)	p.N258S(1)		endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CGACAGACCAACATCCGCTAC	0.642																																					p.N258S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A773G	19						.						101.0	94.0	97.0					19																	10132262		2203	4300	6503	9993262	SO:0001583	missense	50700	exon6			AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	14423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 28C, member 2"""	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.773A>G	19.37:g.10132262A>G	ENSP00000171214:p.Asn258Ser		9993262	NM_015725	Q9H838	Missense_Mutation	SNP	ENST00000171214.1	37		.	.	.	.	.	.	.	.	.	.	A	15.20	2.762582	0.49574	.	.	ENSG00000080511	ENST00000171214	D	0.82344	-1.6	4.56	4.56	0.56223	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.88032	0.6328	M	0.69523	2.12	0.54753	D	0.999986	D	0.71674	0.998	D	0.65010	0.931	D	0.86125	0.1571	10	0.26408	T	0.33	.	11.8723	0.52527	1.0:0.0:0.0:0.0	.	258	Q9NYR8	RDH8_HUMAN	S	258	ENSP00000171214:N258S	ENSP00000171214:N258S	N	+	2	0	RDH8	9993262	1.000000	0.71417	0.973000	0.42090	0.053000	0.15095	8.619000	0.90938	1.695000	0.51148	0.247000	0.18012	AAC		0.642	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			
ZSCAN18	65982	hgsc.bcm.edu	37	19	58597580	58597580	+	Missense_Mutation	SNP	G	G	A	rs181607989	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr19:58597580G>A	ENST00000240727.6	-	6	1198	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W	ZSCAN18_ENST00000601144.1_Missense_Mutation_p.R267W|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.R323W|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.R132W	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	267					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R267W(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TCCACCAACCGGAGTTCCTCA	0.522													G|||	2	0.000399361	0.0	0.0	5008	,	,		18447	0.002		0.0	False		,,,				2504	0.0				p.R323W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C967T	19						.						86.0	71.0	76.0					19																	58597580		2203	4300	6503	63289392	SO:0001583	missense	65982	exon6			AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.799C>T	19.37:g.58597580G>A	ENSP00000240727:p.Arg267Trp		63289392	NM_001145542	B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	ENST00000240727.6	37	CCDS12971.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.168	1.020345	0.19433	.	.	ENSG00000121413	ENST00000433686;ENST00000240727;ENST00000421612	T;T	0.02015	4.77;4.5	2.69	1.61	0.23674	.	1.873580	0.02845	N	0.128455	T	0.01730	0.0055	N	0.14661	0.345	0.09310	N	1	P;P;P;P	0.48589	0.857;0.857;0.912;0.857	B;B;B;B	0.36719	0.18;0.18;0.231;0.116	T	0.44711	-0.9310	10	0.33141	T	0.24	0.6818	6.7473	0.23468	0.0:0.0:0.7205:0.2795	.	323;132;267;267	B4DG23;E9PBI0;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	W	323;267;132	ENSP00000240727:R267W;ENSP00000392653:R132W	ENSP00000240727:R267W	R	-	1	2	ZSCAN18	63289392	0.000000	0.05858	0.004000	0.12327	0.008000	0.06430	0.486000	0.22340	0.666000	0.31087	0.561000	0.74099	CGG		0.522	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926	
VPS13B	157680	hgsc.bcm.edu	37	8	100866425	100866425	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr8:100866425C>T	ENST00000358544.2	+	56	10994	c.10883C>T	c.(10882-10884)gCg>gTg	p.A3628V	VPS13B_ENST00000357162.2_Missense_Mutation_p.A3603V|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3628					protein transport (GO:0015031)			p.A3628V(1)|p.A3603V(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCACCACTGCGAGGCAGCTT	0.557																																					p.A3603V	Colon(161;2205 2542 7338 31318)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C10808T	8						.						103.0	81.0	88.0					8																	100866425		2203	4300	6503	100935601	SO:0001583	missense	157680	exon56			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10883C>T	8.37:g.100866425C>T	ENSP00000351346:p.Ala3628Val		100935601	NM_152564	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179101	0.78564	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.69685	-0.42;-0.42	5.5	4.61	0.57282	.	0.060595	0.64402	D	0.000005	T	0.71400	0.3335	L	0.49350	1.555	0.80722	D	1	D;D	0.69078	0.997;0.996	P;P	0.56514	0.8;0.699	T	0.67612	-0.5626	10	0.18276	T	0.48	.	16.1018	0.81178	0.0:0.8659:0.1341:0.0	.	3603;3628	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	V	3603;3628	ENSP00000349685:A3603V;ENSP00000351346:A3628V	ENSP00000349685:A3603V	A	+	2	0	VPS13B	100935601	1.000000	0.71417	0.696000	0.30242	0.875000	0.50365	5.548000	0.67255	1.264000	0.44198	0.650000	0.86243	GCG		0.557	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
ABRA	137735	hgsc.bcm.edu	37	8	107773578	107773578	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr8:107773578C>T	ENST00000311955.3	-	2	887	c.833G>A	c.(832-834)cGc>cAc	p.R278H		NM_139166.4	NP_631905.1			actin-binding Rho activating protein									p.R278H(1)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TTTGTGTAGGCGGGTGGACAT	0.512																																					p.R278H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G833A	8						.						107.0	93.0	98.0					8																	107773578		2203	4300	6503	107842754	SO:0001583	missense	137735	exon2			AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.833G>A	8.37:g.107773578C>T	ENSP00000311436:p.Arg278His		107842754	NM_139166		Missense_Mutation	SNP	ENST00000311955.3	37	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970762	0.92919	.	.	ENSG00000174429	ENST00000311955	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.77890	0.4198	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.66847	0.947	T	0.77702	-0.2489	9	0.66056	D	0.02	-11.4142	20.3242	0.98691	0.0:1.0:0.0:0.0	.	278	Q8N0Z2	ABRA_HUMAN	H	278	.	ENSP00000311436:R278H	R	-	2	0	ABRA	107842754	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.897000	0.56273	2.882000	0.98803	0.655000	0.94253	CGC		0.512	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166	
KCNV1	27012	hgsc.bcm.edu	37	8	110984517	110984517	+	Missense_Mutation	SNP	G	G	A	rs192812890		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr8:110984517G>A	ENST00000524391.1	-	3	1993	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C	RP11-696P8.2_ENST00000530667.1_RNA|KCNV1_ENST00000297404.1_Missense_Mutation_p.R321C			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	321					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)	p.R321C(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TTTAGCATGCGCAGAGCCCTG	0.507																																					p.R321C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C961T	8						.						75.0	69.0	71.0					8																	110984517		2203	4300	6503	111053693	SO:0001583	missense	27012	exon2			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.961C>T	8.37:g.110984517G>A	ENSP00000435954:p.Arg321Cys		111053693	NM_014379	Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	CCDS6314.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	21.2	4.112271	0.77210	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.98849	-5.18;-5.18	5.95	5.95	0.96441	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99542	0.9836	H	0.99249	4.485	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97924	1.0316	10	0.87932	D	0	.	14.2286	0.65875	0.0:0.0:0.851:0.149	.	321	Q6PIU1	KCNV1_HUMAN	C	321;321;197	ENSP00000435954:R321C;ENSP00000297404:R321C	ENSP00000297404:R321C	R	-	1	0	KCNV1	111053693	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.431000	0.52814	2.817000	0.96982	0.563000	0.77884	CGC		0.507	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379	
CSMD3	114788	hgsc.bcm.edu	37	8	113253969	113253969	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr8:113253969G>C	ENST00000297405.5	-	66	10692	c.10448C>G	c.(10447-10449)aCa>aGa	p.T3483R	CSMD3_ENST00000352409.3_Missense_Mutation_p.T3413R|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3443R|CSMD3_ENST00000455883.2_Missense_Mutation_p.T3314R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3483						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T3483R(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						TGGGCTGGGTGTTCCCAGTGC	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.T3483R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C10448G	8						.						125.0	134.0	131.0					8																	113253969		2203	4299	6502	113323145	SO:0001583	missense	114788	exon66			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.10448C>G	8.37:g.113253969G>C	ENSP00000297405:p.Thr3483Arg		113323145	NM_198123	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.758893	0.31137	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.24908	2.14;2.14;2.16;1.83;2.15	4.68	4.68	0.58851	.	0.000000	0.56097	D	0.000021	T	0.26268	0.0641	L	0.55481	1.735	0.46725	D	0.999177	B;B;B	0.15473	0.013;0.006;0.002	B;B;B	0.13407	0.009;0.003;0.005	T	0.08911	-1.0699	10	0.13108	T	0.6	.	18.1413	0.89641	0.0:0.0:1.0:0.0	.	3314;3483;3443	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	3443;3483;2753;3314;3413	ENSP00000345799:T3443R;ENSP00000297405:T3483R;ENSP00000341558:T2753R;ENSP00000412263:T3314R;ENSP00000343124:T3413R	ENSP00000297405:T3483R	T	-	2	0	CSMD3	113323145	1.000000	0.71417	1.000000	0.80357	0.073000	0.16967	8.513000	0.90542	2.595000	0.87683	0.591000	0.81541	ACA		0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CSMD3	114788	hgsc.bcm.edu	37	8	113347567	113347567	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr8:113347567T>A	ENST00000297405.5	-	45	7400	c.7156A>T	c.(7156-7158)Agt>Tgt	p.S2386C	CSMD3_ENST00000352409.3_Missense_Mutation_p.S2316C|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2346C|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2282C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2386	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S2386C(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						CCGTGATAACTGAGCACAAAA	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.S2386C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A7156T	8						.						92.0	89.0	90.0					8																	113347567		2203	4300	6503	113416743	SO:0001583	missense	114788	exon45			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.7156A>T	8.37:g.113347567T>A	ENSP00000297405:p.Ser2386Cys		113416743	NM_198123	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.018308	0.75275	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14	4.68	4.68	0.58851	CUB (4);	0.260360	0.38436	N	0.001692	T	0.62636	0.2444	N	0.22421	0.69	0.52501	D	0.999959	D;D;D	0.71674	0.998;0.998;0.993	D;D;D	0.70016	0.917;0.967;0.96	T	0.66960	-0.5791	10	0.59425	D	0.04	.	14.5693	0.68202	0.0:0.0:0.0:1.0	.	2282;2386;2346	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	2346;2386;1656;2282;2316	ENSP00000345799:S2346C;ENSP00000297405:S2386C;ENSP00000341558:S1656C;ENSP00000412263:S2282C;ENSP00000343124:S2316C	ENSP00000297405:S2386C	S	-	1	0	CSMD3	113416743	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.825000	0.62708	2.094000	0.63399	0.477000	0.44152	AGT		0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CSMD3	114788	hgsc.bcm.edu	37	8	113668493	113668493	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr8:113668493T>C	ENST00000297405.5	-	18	3138	c.2894A>G	c.(2893-2895)tAc>tGc	p.Y965C	CSMD3_ENST00000352409.3_Missense_Mutation_p.Y965C|CSMD3_ENST00000343508.3_Missense_Mutation_p.Y925C|CSMD3_ENST00000455883.2_Missense_Mutation_p.Y861C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	965	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y965C(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						GGTGCCATTGTAAGATCCAAG	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.Y965C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2894G	8						.						73.0	79.0	77.0					8																	113668493		2203	4300	6503	113737669	SO:0001583	missense	114788	exon18			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.2894A>G	8.37:g.113668493T>C	ENSP00000297405:p.Tyr965Cys		113737669	NM_198123	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	16.88	3.243816	0.58995	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	4.95	4.95	0.65309	CUB (5);	0.087674	0.48767	D	0.000173	T	0.52175	0.1718	M	0.89353	3.025	0.35645	D	0.811272	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.91635	0.917;0.95;0.999	T	0.67764	-0.5586	10	0.41790	T	0.15	.	14.916	0.70798	0.0:0.0:0.0:1.0	.	861;965;925	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	925;965;305;861;965	ENSP00000345799:Y925C;ENSP00000297405:Y965C;ENSP00000341558:Y305C;ENSP00000412263:Y861C;ENSP00000343124:Y965C	ENSP00000297405:Y965C	Y	-	2	0	CSMD3	113737669	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	5.073000	0.64395	1.984000	0.57885	0.377000	0.23210	TAC		0.368	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
RAD21	5885	hgsc.bcm.edu	37	8	117864833	117864833	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr8:117864833G>A	ENST00000297338.2	-	10	1563	c.1276C>T	c.(1276-1278)Cct>Tct	p.P426S	RAD21_ENST00000523986.1_5'Flank|RAD21_ENST00000518055.1_5'Flank	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	426					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.P426S(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)					TCCTCTCTAGGAACCTCTGGA	0.418																																					p.P426S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1276T	8						.						128.0	121.0	123.0					8																	117864833		2203	4300	6503	117934014	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.1276C>T	8.37:g.117864833G>A	ENSP00000297338:p.Pro426Ser		117934014	NM_006265	A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684552	0.88639	.	.	ENSG00000164754	ENST00000297338	T	0.53640	0.61	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.65471	0.2694	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.58707	-0.7589	10	0.09590	T	0.72	-0.2423	19.4713	0.94963	0.0:0.0:1.0:0.0	.	426	O60216	RAD21_HUMAN	S	426	ENSP00000297338:P426S	ENSP00000297338:P426S	P	-	1	0	RAD21	117934014	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.624000	0.98398	2.587000	0.87381	0.563000	0.77884	CCT		0.418	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265	
CLN8	2055	hgsc.bcm.edu	37	8	1719470	1719470	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr8:1719470G>A	ENST00000331222.4	+	2	497	c.250G>A	c.(250-252)Gct>Act	p.A84T		NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	84	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.A84T(1)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		AGGCCTGTGGGCTCTGCTGGG	0.597																																					p.A84T	Pancreas(155;338 1942 6138 10888 50612)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G250A	8						.						74.0	70.0	72.0					8																	1719470		2203	4300	6503	1706877	SO:0001583	missense	2055	exon2			AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"""chromosome 8 open reading frame 61"""	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.250G>A	8.37:g.1719470G>A	ENSP00000328182:p.Ala84Thr		1706877	NM_018941	Q86U71|Q96I95	Missense_Mutation	SNP	ENST00000331222.4	37	CCDS5956.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229927	0.79688	.	.	ENSG00000182372	ENST00000331222	D	0.85171	-1.95	5.06	5.06	0.68205	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.64402	U	0.000005	D	0.91492	0.7314	M	0.78916	2.43	0.80722	D	1	D	0.69078	0.997	P	0.61800	0.894	D	0.91706	0.5377	9	.	.	.	-18.036	18.4221	0.90594	0.0:0.0:1.0:0.0	.	84	Q9UBY8	CLN8_HUMAN	T	84	ENSP00000328182:A84T	.	A	+	1	0	CLN8	1706877	1.000000	0.71417	0.982000	0.44146	0.627000	0.37826	7.376000	0.79658	2.329000	0.79093	0.455000	0.32223	GCT		0.597	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2	NM_018941	
MYOM2	9172	hgsc.bcm.edu	37	8	2021532	2021532	+	Missense_Mutation	SNP	G	G	A	rs201045176		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr8:2021532G>A	ENST00000262113.4	+	10	1213	c.1072G>A	c.(1072-1074)Gtg>Atg	p.V358M	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	358	Ig-like C2-type 2.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.V358M(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCTGCGCATCGTGTCTCGGGG	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		16398	0.0		0.001	False		,,,				2504	0.0				p.V358M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1072A	8						.	G	MET/VAL	0,4406		0,0,2203	65.0	54.0	58.0		1072	2.7	0.7	8		58	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MYOM2	NM_003970.2	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	358/1466	2021532	1,13005	2203	4300	6503	2008939	SO:0001583	missense	9172	exon10				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1072G>A	8.37:g.2021532G>A	ENSP00000262113:p.Val358Met		2008939	NM_003970	Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.626	0.677911	0.14841	0.0	1.16E-4	ENSG00000036448	ENST00000262113	T	0.67523	-0.27	4.9	2.72	0.32119	Immunoglobulin subtype (1);Immunoglobulin I-set (1);	0.163737	0.40222	N	0.001157	T	0.51261	0.1664	N	0.25890	0.77	0.80722	D	1	P	0.38535	0.635	B	0.37091	0.241	T	0.51124	-0.8745	10	0.37606	T	0.19	.	12.3428	0.55103	0.1631:0.0:0.8369:0.0	.	358	P54296	MYOM2_HUMAN	M	358	ENSP00000262113:V358M	ENSP00000262113:V358M	V	+	1	0	MYOM2	2008939	0.903000	0.30736	0.698000	0.30274	0.162000	0.22319	1.297000	0.33400	1.033000	0.39918	0.655000	0.94253	GTG		0.632	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970	
CSGALNACT1	55790	hgsc.bcm.edu	37	8	19363277	19363277	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr8:19363277G>A	ENST00000454498.2	-	4	1082	c.69C>T	c.(67-69)tgC>tgT	p.C23C	CSGALNACT1_ENST00000544602.1_Silent_p.C23C|CSGALNACT1_ENST00000522854.1_Silent_p.C23C|CSGALNACT1_ENST00000332246.6_Silent_p.C23C|CSGALNACT1_ENST00000311540.4_Silent_p.C23C	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	23					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)	p.C23C(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		AGATAGCACAGCAGAGGAGCA	0.612																																					p.C23C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C69T	8						.						117.0	121.0	120.0					8																	19363277		2203	4300	6503	19407557	SO:0001819	synonymous_variant	55790	exon4			AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.69C>T	8.37:g.19363277G>A			19407557	NM_018371	B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Silent	SNP	ENST00000454498.2	37	CCDS6010.1																																																																																				0.612	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371	
LPL	4023	hgsc.bcm.edu	37	8	19813359	19813359	+	Missense_Mutation	SNP	C	C	A	rs138065727		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr8:19813359C>A	ENST00000311322.8	+	6	1253	c.783C>A	c.(781-783)gaC>gaA	p.D261E		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	261					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)	p.D261E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	CAGATGTGGACCAGCTAGTGA	0.443																																					p.D261E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C783A	8						.						86.0	90.0	89.0					8																	19813359		2203	4300	6503	19857639	SO:0001583	missense	4023	exon6				CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.783C>A	8.37:g.19813359C>A	ENSP00000309757:p.Asp261Glu		19857639	NM_000237	B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	37	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217838	0.58560	.	.	ENSG00000175445	ENST00000311322;ENST00000538071;ENST00000535763	D	0.90563	-2.69	6.07	3.98	0.46160	Lipase, N-terminal (1);	0.124148	0.64402	D	0.000001	D	0.91466	0.7306	L	0.48362	1.52	0.37371	D	0.911629	P	0.46621	0.881	P	0.58620	0.842	D	0.92566	0.6062	8	.	.	.	-22.5374	11.6084	0.51045	0.0:0.8322:0.0:0.1678	.	261	P06858	LIPL_HUMAN	E	261;185;247	ENSP00000309757:D261E	.	D	+	3	2	LPL	19857639	0.996000	0.38824	1.000000	0.80357	0.934000	0.57294	0.462000	0.21956	1.596000	0.50062	0.650000	0.86243	GAC		0.443	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3		
DOK2	9046	hgsc.bcm.edu	37	8	21768303	21768303	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr8:21768303G>A	ENST00000276420.4	-	4	757	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	DOK2_ENST00000544659.1_Missense_Mutation_p.R13W	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	167	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)	p.R167W(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TAGGACCCCCGCAGGTGGCAC	0.627																																					p.R167W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C499T	8						.						27.0	33.0	31.0					8																	21768303		2203	4300	6503	21824249	SO:0001583	missense	9046	exon4			AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"""docking protein 2, 56kD"""			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.499C>T	8.37:g.21768303G>A	ENSP00000276420:p.Arg167Trp		21824249	NM_003974	Q8N5A4	Missense_Mutation	SNP	ENST00000276420.4	37	CCDS6016.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801252	0.31869	.	.	ENSG00000147443	ENST00000276420;ENST00000544659;ENST00000518197;ENST00000523932	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	5.16	2.2	0.27929	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.378221	0.24776	N	0.035699	T	0.64283	0.2584	L	0.56769	1.78	0.32301	N	0.565066	B;B	0.15141	0.012;0.012	B;B	0.19391	0.017;0.025	T	0.60556	-0.7240	10	0.38643	T	0.18	.	3.4337	0.07438	0.2576:0.0:0.458:0.2844	.	167;167	O60496;A8K7W1	DOK2_HUMAN;.	W	167;13;13;167	ENSP00000276420:R167W;ENSP00000443602:R13W;ENSP00000430729:R13W;ENSP00000429224:R167W	ENSP00000276420:R167W	R	-	1	2	DOK2	21824249	0.000000	0.05858	0.987000	0.45799	0.662000	0.39071	-0.379000	0.07437	0.571000	0.29365	-0.136000	0.14681	CGG		0.627	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253735.3	NM_003974	
LGI3	203190	hgsc.bcm.edu	37	8	22005676	22005676	+	Silent	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr8:22005676G>T	ENST00000306317.2	-	8	1933	c.1644C>A	c.(1642-1644)gcC>gcA	p.A548A	LGI3_ENST00000424267.2_Silent_p.A524A	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	548					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)	p.A548A(1)		endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GCACCCCCTAGGCACTGAGAT	0.617																																					p.A548A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1644A	8						.						97.0	91.0	93.0					8																	22005676		2203	4300	6503	22061621	SO:0001819	synonymous_variant	203190	exon8			AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.1644C>A	8.37:g.22005676G>T			22061621	NM_139278	A5PLP2|Q86TL4|Q8N296	Silent	SNP	ENST00000306317.2	37	CCDS6025.1																																																																																				0.617	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1		
LOXL2	4017	hgsc.bcm.edu	37	8	23191110	23191110	+	Missense_Mutation	SNP	C	C	T	rs139417842		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr8:23191110C>T	ENST00000389131.3	-	5	1139	c.770G>A	c.(769-771)cGc>cAc	p.R257H	LOXL2_ENST00000518472.1_5'Flank|RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	257	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)	p.R257H(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TGGCCAGTAGCGCTGCTTCCT	0.607													c|||	1	0.000199681	0.0008	0.0	5008	,	,		20274	0.0		0.0	False		,,,				2504	0.0				p.R257H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G770A	8						.		HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	64.0	51.0	55.0		770	3.0	0.9	8	dbSNP_134	55	3,8597	3.0+/-9.4	0,3,4297	yes	missense	LOXL2	NM_002318.2	29	0,5,6498	TT,TC,CC		0.0349,0.0454,0.0384	benign	257/775	23191110	5,13001	2203	4300	6503	23247055	SO:0001583	missense	4017	exon5			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.770G>A	8.37:g.23191110C>T	ENSP00000373783:p.Arg257His		23247055	NM_002318	B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	c	10.73	1.431511	0.25813	4.54E-4	3.49E-4	ENSG00000134013	ENST00000389131	T	0.60424	0.19	5.78	3.02	0.34903	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.548042	0.20147	N	0.098244	T	0.45816	0.1361	L	0.48986	1.54	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.30149	-0.9988	10	0.30078	T	0.28	.	5.6748	0.17743	0.0:0.576:0.1342:0.2898	.	257	Q9Y4K0	LOXL2_HUMAN	H	257	ENSP00000373783:R257H	ENSP00000373783:R257H	R	-	2	0	LOXL2	23247055	0.008000	0.16893	0.934000	0.37439	0.980000	0.70556	0.200000	0.17257	0.816000	0.34421	0.645000	0.84053	CGC		0.607	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1		
LOXL2	4017	hgsc.bcm.edu	37	8	23217750	23217750	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr8:23217750A>T	ENST00000389131.3	-	3	753	c.384T>A	c.(382-384)tgT>tgA	p.C128*	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	128	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)	p.C128*(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CGTTGCCAGTACAGTGGAGAT	0.577																																					p.C128X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T384A	8						.						60.0	46.0	51.0					8																	23217750		2203	4300	6503	23273695	SO:0001587	stop_gained	4017	exon3			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.384T>A	8.37:g.23217750A>T	ENSP00000373783:p.Cys128*		23273695	NM_002318	B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Nonsense_Mutation	SNP	ENST00000389131.3	37	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	A	31	5.082633	0.94050	.	.	ENSG00000134013	ENST00000389131;ENST00000524144;ENST00000520871;ENST00000518083;ENST00000524168	.	.	.	5.53	2.7	0.31948	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0677	0.42315	0.2422:0.0:0.7578:0.0	.	.	.	.	X	128;209;169;128;128	.	ENSP00000373783:C128X	C	-	3	2	LOXL2	23273695	1.000000	0.71417	0.998000	0.56505	0.859000	0.49053	0.983000	0.29552	0.785000	0.33685	-0.242000	0.12053	TGT		0.577	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1		
ZNF395	55893	hgsc.bcm.edu	37	8	28214251	28214251	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr8:28214251C>T	ENST00000344423.5	-	4	650	c.519G>A	c.(517-519)gtG>gtA	p.V173V	ZNF395_ENST00000523095.1_Silent_p.V173V|ZNF395_ENST00000523202.1_Silent_p.V173V	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	173					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V173V(1)		cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGGACGTCAGCACCATGGCCG	0.607																																					p.V173V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G519A	8						.						132.0	115.0	121.0					8																	28214251		2203	4300	6503	28270170	SO:0001819	synonymous_variant	55893	exon4			AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.519G>A	8.37:g.28214251C>T			28270170	NM_018660	B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Silent	SNP	ENST00000344423.5	37	CCDS6067.1																																																																																				0.607	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1		
CLVS1	157807	hgsc.bcm.edu	37	8	62366767	62366767	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr8:62366767A>G	ENST00000519846.1	+	5	1170	c.698A>G	c.(697-699)tAc>tGc	p.Y233C	CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Missense_Mutation_p.Y233C			Q8IUQ0	CLVS1_HUMAN	clavesin 1	233	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				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.Y233C(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CATGCCCTCTACACACTCATC	0.443																																					p.Y233C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A698G	8						.						239.0	222.0	228.0					8																	62366767		2203	4300	6503	62529321	SO:0001583	missense	157807	exon4			AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.698A>G	8.37:g.62366767A>G	ENSP00000428402:p.Tyr233Cys		62529321	NM_173519	B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.222672	0.79464	.	.	ENSG00000177182	ENST00000519846;ENST00000325897	T;T	0.77750	-1.12;-1.12	4.81	4.81	0.61882	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.121516	0.56097	D	0.000021	D	0.85444	0.5698	M	0.64404	1.975	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	D	0.87095	0.2175	10	0.72032	D	0.01	-17.797	14.8222	0.70082	1.0:0.0:0.0:0.0	.	233	Q8IUQ0	CLVS1_HUMAN	C	233	ENSP00000428402:Y233C;ENSP00000325506:Y233C	ENSP00000325506:Y233C	Y	+	2	0	CLVS1	62529321	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	8.602000	0.90868	2.150000	0.67090	0.533000	0.62120	TAC		0.443	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519	
C8orf34	116328	hgsc.bcm.edu	37	8	69445224	69445224	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr8:69445224G>C	ENST00000539993.1	+	7	1236	c.687G>C	c.(685-687)aaG>aaC	p.K229N	C8orf34_ENST00000348340.2_Missense_Mutation_p.K229N|C8orf34_ENST00000518698.1_Missense_Mutation_p.K315N|C8orf34_ENST00000337103.4_Missense_Mutation_p.K204N			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	229								p.K204N(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TCAGCTTAAAGATGGAGCCTA	0.348																																					p.K315N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G945C	8						.						73.0	73.0	73.0					8																	69445224		2203	4300	6503	69607778	SO:0001583	missense	116328	exon7			AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.687G>C	8.37:g.69445224G>C	ENSP00000438159:p.Lys229Asn		69607778	NM_052958	A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37		.	.	.	.	.	.	.	.	.	.	G	17.01	3.279474	0.59758	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000348340;ENST00000337103	T;T;T	0.55413	0.52;0.57;0.55	5.54	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.67552	0.2905	M	0.65975	2.015	0.35786	D	0.822042	P;D	0.89917	0.928;1.0	P;D	0.83275	0.647;0.996	T	0.73582	-0.3937	9	.	.	.	-16.1809	11.0518	0.47894	0.1414:0.0:0.8586:0.0	.	229;229	Q49A92;Q49A92-3	CH034_HUMAN;.	N	315;229;229;204	ENSP00000427820:K315N;ENSP00000438159:K229N;ENSP00000337174:K204N	.	K	+	3	2	C8orf34	69607778	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	3.384000	0.52478	2.609000	0.88269	0.591000	0.81541	AAG		0.348	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958	
ZC2HC1A	51101	hgsc.bcm.edu	37	8	79609698	79609698	+	Silent	SNP	T	T	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr8:79609698T>G	ENST00000263849.4	+	6	663	c.561T>G	c.(559-561)tcT>tcG	p.S187S	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	187							metal ion binding (GO:0046872)	p.S187S(1)									CATCAGGATCTTCACGATTAC	0.388																																					p.S187S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T561G	8						.						71.0	70.0	70.0					8																	79609698		2203	4300	6503	79772253	SO:0001819	synonymous_variant	51101	exon6				CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"""Zinc fingers, C2HC-type containing"""	24277	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 70"", ""family with sequence similarity 164, member A"""	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.561T>G	8.37:g.79609698T>G			79772253	NM_016010	Q9Y372	Silent	SNP	ENST00000263849.4	37	CCDS6223.1	.	.	.	.	.	.	.	.	.	.	T	11.53	1.666431	0.29604	.	.	ENSG00000104427	ENST00000519307	.	.	.	5.48	-5.01	0.02991	.	.	.	.	.	T	0.38665	0.1049	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41197	-0.9522	4	.	.	.	-14.7512	2.8119	0.05444	0.3642:0.0604:0.1784:0.397	.	.	.	.	V	20	.	.	F	+	1	0	FAM164A	79772253	0.998000	0.40836	0.989000	0.46669	0.974000	0.67602	0.201000	0.17276	-0.535000	0.06307	0.533000	0.62120	TTC		0.388	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010	
CDH17	1015	hgsc.bcm.edu	37	8	95172352	95172352	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr8:95172352C>T	ENST00000027335.3	-	12	1522	c.1398G>A	c.(1396-1398)ggG>ggA	p.G466G	CDH17_ENST00000441892.2_Silent_p.G252G|CDH17_ENST00000450165.2_Silent_p.G466G	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	466	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.G466G(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			AGATGGTGGACCCAATGTTTG	0.443																																					p.G466G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1398A	8						.						118.0	114.0	115.0					8																	95172352		2203	4300	6503	95241528	SO:0001819	synonymous_variant	1015	exon12			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1398G>A	8.37:g.95172352C>T			95241528	NM_001144663	Q15336|Q2M2E0	Silent	SNP	ENST00000027335.3	37	CCDS6260.1																																																																																				0.443	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063	
COMMD5	28991	hgsc.bcm.edu	37	8	146076587	146076587	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr8:146076587C>T	ENST00000305103.3	-	2	389	c.137G>A	c.(136-138)aGc>aAc	p.S46N	COMMD5_ENST00000450361.2_Missense_Mutation_p.S46N|AF235103.1_ENST00000578937.1_RNA|COMMD5_ENST00000402718.3_Missense_Mutation_p.S46N	NM_014066.3	NP_054785.2	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	46						nucleus (GO:0005634)		p.S46N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			TCTGAACGTGCTCCTGTCTAG	0.612																																					p.S46N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G137A	8						.						54.0	54.0	54.0					8																	146076587		2203	4300	6503	146047391	SO:0001583	missense	28991	exon2			AK023070	CCDS6436.1	8q24.3	2006-11-06				ENSG00000170619			17902	protein-coding gene	gene with protein product		608216				15799966, 10918053	Standard	NM_014066		Approved	HT002, FLJ13008, HCaRG	uc003zem.3	Q9GZQ3		ENST00000305103.3:c.137G>A	8.37:g.146076587C>T	ENSP00000304544:p.Ser46Asn		146047391	NM_001081004	D3DWN7|Q9NVN6|Q9UHX5	Missense_Mutation	SNP	ENST00000305103.3	37	CCDS6436.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.362120	0.24684	.	.	ENSG00000170619	ENST00000402718;ENST00000450361;ENST00000305103;ENST00000529143;ENST00000533270	T;T;T;T;T	0.09911	2.93;2.93;2.93;2.93;2.93	4.75	1.38	0.22167	.	0.518810	0.20195	N	0.097225	T	0.06554	0.0168	L	0.38175	1.15	0.23916	N	0.996479	B	0.06786	0.001	B	0.06405	0.002	T	0.36311	-0.9753	10	0.19147	T	0.46	-0.1322	3.3424	0.07123	0.0:0.5102:0.2159:0.2739	.	46	Q9GZQ3	COMD5_HUMAN	N	46	ENSP00000385793:S46N;ENSP00000394331:S46N;ENSP00000304544:S46N;ENSP00000435552:S46N;ENSP00000433758:S46N	ENSP00000304544:S46N	S	-	2	0	COMMD5	146047391	0.000000	0.05858	0.951000	0.38953	0.492000	0.33523	-0.266000	0.08631	0.536000	0.28733	0.557000	0.71058	AGC		0.612	COMMD5-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382962.1	NM_014066	
VCAM1	7412	hgsc.bcm.edu	37	1	101188868	101188868	+	Silent	SNP	G	G	A	rs377765811		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:101188868G>A	ENST00000294728.2	+	3	734	c.633G>A	c.(631-633)agG>agA	p.R211R	VCAM1_ENST00000370115.1_Silent_p.R211R|VCAM1_ENST00000370119.4_Silent_p.R149R|VCAM1_ENST00000347652.2_Silent_p.R211R	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	211	Ig-like C2-type 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)	p.R211R(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CCACAGTAAGGCAGGCTGTAA	0.408																																					p.R149R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G447A	1						.	G	,,	1,4405	2.1+/-5.4	0,1,2202	101.0	100.0	100.0		633,447,633	2.4	0.0	1		100	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	VCAM1	NM_001078.3,NM_001199834.1,NM_080682.2	,,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,,	211/740,149/678,211/648	101188868	1,13003	2203	4299	6502	100961456	SO:0001819	synonymous_variant	7412	exon3			M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.633G>A	1.37:g.101188868G>A			100961456	NM_001199834	A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Silent	SNP	ENST00000294728.2	37	CCDS773.1																																																																																				0.408	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078	
KIF1B	23095	hgsc.bcm.edu	37	1	10423393	10423393	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:10423393G>T	ENST00000377086.1	+	41	4559	c.4357G>T	c.(4357-4359)Ggt>Tgt	p.G1453C	KIF1B_ENST00000263934.6_Missense_Mutation_p.G1407C|KIF1B_ENST00000377081.1_Missense_Mutation_p.G1453C			O60333	KIF1B_HUMAN	kinesin family member 1B	1453					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.G1407C(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GTCAGACACAGGTAGTCCAGG	0.393																																					p.G1407C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4219T	1						.						189.0	182.0	184.0					1																	10423393		2203	4300	6503	10345980	SO:0001583	missense	23095	exon39			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4357G>T	1.37:g.10423393G>T	ENSP00000366290:p.Gly1453Cys		10345980	NM_015074	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	G	29.1	4.980512	0.92982	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.74002	-0.72;-0.8;-0.8	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.85877	0.5799	L	0.61036	1.89	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	0.982;0.991;0.982;0.993;0.999;0.999	D	0.85289	0.1066	10	0.66056	D	0.02	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1439;1413;1453;1427;1453;1407	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	C	1453;1407;1453;1453	ENSP00000263934:G1407C;ENSP00000366290:G1453C;ENSP00000366284:G1453C	ENSP00000263934:G1407C	G	+	1	0	KIF1B	10345980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.386000	0.97228	2.882000	0.98803	0.655000	0.94253	GGT		0.393	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1		
EXTL2	2135	hgsc.bcm.edu	37	1	101339673	101339673	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:101339673T>C	ENST00000370114.3	-	5	2254	c.818A>G	c.(817-819)gAa>gGa	p.E273G	EXTL2_ENST00000535414.1_Missense_Mutation_p.E260G|EXTL2_ENST00000370113.3_Missense_Mutation_p.E273G	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	273					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)	p.E273G(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		GGTTTCTTTTTCCAAATTGTC	0.383																																					p.E273G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A818G	1						.						81.0	75.0	77.0					1																	101339673		2203	4299	6502	101112261	SO:0001583	missense	2135	exon5			U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"""Exostosin glycosyltransferase family"""	3516	protein-coding gene	gene with protein product	"""alpha-1,4-N-acteylhexosaminyltransferase"""	602411	"""exostoses (multiple)-like 2"""			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.818A>G	1.37:g.101339673T>C	ENSP00000359132:p.Glu273Gly		101112261	NM_001033025	B2R795|D3DT60	Missense_Mutation	SNP	ENST00000370114.3	37	CCDS775.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.698270	0.88830	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414	D;D;D	0.86164	-2.08;-2.08;-2.08	5.97	5.97	0.96955	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.90752	0.7097	M	0.62266	1.93	0.80722	D	1	D;D	0.71674	0.998;0.995	D;P	0.66847	0.947;0.889	D	0.91807	0.5456	10	0.72032	D	0.01	-30.3224	16.4504	0.83984	0.0:0.0:0.0:1.0	.	272;273	Q8N8F1;Q9UBQ6	.;EXTL2_HUMAN	G	273;273;260	ENSP00000359132:E273G;ENSP00000359131:E273G;ENSP00000444385:E260G	ENSP00000359131:E273G	E	-	2	0	EXTL2	101112261	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.698000	0.84413	2.288000	0.76882	0.533000	0.62120	GAA		0.383	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	NM_001439	
STXBP3	6814	hgsc.bcm.edu	37	1	109351432	109351432	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:109351432A>C	ENST00000370008.3	+	19	1762	c.1712A>C	c.(1711-1713)aAg>aCg	p.K571T		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	571					blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)	p.K571T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		ACACCCAAAAAGCTGTTGGAT	0.338																																					p.K571T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1712C	1						.						150.0	167.0	161.0					1																	109351432		2203	4299	6502	109152955	SO:0001583	missense	6814	exon19			D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.1712A>C	1.37:g.109351432A>C	ENSP00000359025:p.Lys571Thr		109152955	NM_007269	A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Missense_Mutation	SNP	ENST00000370008.3	37	CCDS790.1	.	.	.	.	.	.	.	.	.	.	A	9.794	1.178806	0.21787	.	.	ENSG00000116266	ENST00000370008	T	0.77620	-1.11	5.17	2.81	0.32909	.	0.193585	0.53938	N	0.000042	T	0.27313	0.0670	N	0.04686	-0.185	0.27384	N	0.955327	B	0.14438	0.01	B	0.12837	0.008	T	0.20605	-1.0270	10	0.14252	T	0.57	-11.3863	4.0012	0.09580	0.4244:0.4147:0.1608:0.0	.	571	O00186	STXB3_HUMAN	T	571	ENSP00000359025:K571T	ENSP00000359025:K571T	K	+	2	0	STXBP3	109152955	0.998000	0.40836	0.997000	0.53966	0.986000	0.74619	1.317000	0.33631	0.771000	0.33359	0.533000	0.62120	AAG		0.338	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1	NM_007269	
C1orf127	148345	hgsc.bcm.edu	37	1	11008575	11008575	+	Silent	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:11008575G>T	ENST00000377008.4	-	11	1562	c.1116C>A	c.(1114-1116)acC>acA	p.T372T	C1orf127_ENST00000377004.4_Silent_p.T539T			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	372								p.T372T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CTTCAGTCAGGGTGACAGATG	0.607																																					p.T539T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1617A	1						.						54.0	52.0	53.0					1																	11008575		2203	4300	6503	10931162	SO:0001819	synonymous_variant	148345	exon12			AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.1116C>A	1.37:g.11008575G>T			10931162	NM_001170754	A0AVG8|A6NKM7|Q5VXJ2	Silent	SNP	ENST00000377008.4	37		.	.	.	.	.	.	.	.	.	.	G	4.884	0.164272	0.09287	.	.	ENSG00000175262	ENST00000418570;ENST00000520253	.	.	.	4.71	2.71	0.32032	.	.	.	.	.	T	0.34395	0.0896	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.20306	-1.0279	4	.	.	.	-6.0106	7.6689	0.28447	0.0:0.1877:0.6331:0.1791	.	.	.	.	H	374;491	.	.	P	-	2	0	C1orf127	10931162	0.020000	0.18652	0.001000	0.08648	0.145000	0.21501	0.629000	0.24538	0.451000	0.26802	0.491000	0.48974	CCC		0.607	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507	
CLCC1	23155	hgsc.bcm.edu	37	1	109477335	109477335	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:109477335G>A	ENST00000369971.2	-	11	1742	c.1613C>T	c.(1612-1614)gCt>gTt	p.A538V	CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000348264.2_Missense_Mutation_p.A353V|CLCC1_ENST00000369970.3_Missense_Mutation_p.A488V|CLCC1_ENST00000415331.1_Missense_Mutation_p.A488V|CLCC1_ENST00000369969.2_Missense_Mutation_p.A417V|CLCC1_ENST00000302500.4_Missense_Mutation_p.A417V|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000356970.2_Missense_Mutation_p.A538V|CLCC1_ENST00000369968.2_Missense_Mutation_p.A353V	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	538						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)	p.A488V(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		ACGTGGTCCAGCCACACCTCT	0.572																																					p.A538V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1613T	1						.						93.0	85.0	87.0					1																	109477335		2203	4300	6503	109278858	SO:0001583	missense	23155	exon11			AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"""Mid1-related chloride channel (yeast)"""					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.1613C>T	1.37:g.109477335G>A	ENSP00000358988:p.Ala538Val		109278858	NM_001048210	O94861|Q8WYP8|Q8WYP9|Q9BU25	Missense_Mutation	SNP	ENST00000369971.2	37	CCDS41362.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466830	0.43839	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369969;ENST00000369968;ENST00000369970;ENST00000348264;ENST00000302500	T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.46	1.18	0.20946	.	1.446360	0.04257	N	0.339766	T	0.09818	0.0241	N	0.08118	0	0.09310	N	1	B;B;B;B	0.11235	0.004;0.004;0.002;0.003	B;B;B;B	0.12156	0.006;0.004;0.004;0.007	T	0.15809	-1.0424	10	0.30078	T	0.28	-0.4154	4.6118	0.12406	0.2456:0.0:0.6056:0.1488	.	353;417;488;538	Q96S66-4;Q96S66-3;Q96S66-2;Q96S66	.;.;.;CLCC1_HUMAN	V	538;538;488;417;353;488;353;417	ENSP00000349456:A538V;ENSP00000358988:A538V;ENSP00000411591:A488V;ENSP00000358986:A417V;ENSP00000358985:A353V;ENSP00000358987:A488V;ENSP00000337243:A353V;ENSP00000306552:A417V	ENSP00000306552:A417V	A	-	2	0	CLCC1	109278858	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	0.028000	0.13644	0.242000	0.21303	0.655000	0.94253	GCT		0.572	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	NM_015127	
AMPD2	271	hgsc.bcm.edu	37	1	110169394	110169394	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:110169394C>T	ENST00000256578.3	+	6	1100	c.740C>T	c.(739-741)gCg>gTg	p.A247V	AMPD2_ENST00000358729.4_Missense_Mutation_p.A172V|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000528454.1_Missense_Mutation_p.A129V|AMPD2_ENST00000528667.1_Missense_Mutation_p.A247V|AMPD2_ENST00000342115.4_Missense_Mutation_p.A166V|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000393688.3_Missense_Mutation_p.A128V	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	247					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.A247V(1)|p.A166V(1)		breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GTGGTGCGGGCGCTCTTCATC	0.602																																					p.A247V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C740T	1						.						84.0	92.0	89.0					1																	110169394		2203	4300	6503	109970917	SO:0001583	missense	271	exon6			S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.740C>T	1.37:g.110169394C>T	ENSP00000256578:p.Ala247Val		109970917	NM_004037	B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	CCDS805.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925797	0.92319	.	.	ENSG00000116337	ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688	T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.70649	0.3248	M	0.84773	2.715	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.991;0.998;0.984;0.998	T	0.74169	-0.3752	10	0.48119	T	0.1	-18.0211	17.1905	0.86878	0.0:1.0:0.0:0.0	.	172;128;247;166	Q01433-4;Q01433-3;Q01433;Q01433-2	.;.;AMPD2_HUMAN;.	V	166;247;247;172;129;128	ENSP00000345498:A166V;ENSP00000436541:A247V;ENSP00000256578:A247V;ENSP00000351573:A172V;ENSP00000437164:A129V;ENSP00000377292:A128V	ENSP00000256578:A247V	A	+	2	0	AMPD2	109970917	1.000000	0.71417	0.939000	0.37840	0.657000	0.38888	7.563000	0.82314	2.360000	0.80028	0.462000	0.41574	GCG		0.602	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1		
CEPT1	10390	hgsc.bcm.edu	37	1	111702097	111702097	+	Silent	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:111702097T>C	ENST00000545121.1	+	3	643	c.435T>C	c.(433-435)agT>agC	p.S145S	CEPT1_ENST00000357172.4_Silent_p.S145S	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	145					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)	p.S145S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	GAACCAATAGTAGTTCTCCTC	0.388																																					p.S145S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T435C	1						.						148.0	149.0	149.0					1																	111702097		2203	4300	6503	111503620	SO:0001819	synonymous_variant	10390	exon3			AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.435T>C	1.37:g.111702097T>C			111503620	NM_006090	Q69YJ9|Q9P0Y8	Silent	SNP	ENST00000545121.1	37	CCDS830.1																																																																																				0.388	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034462.2	NM_006090	
VPS13D	55187	hgsc.bcm.edu	37	1	12368575	12368575	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:12368575C>T	ENST00000358136.3	+	27	6657	c.6527C>T	c.(6526-6528)tCg>tTg	p.S2176L	VPS13D_ENST00000356315.4_Missense_Mutation_p.S2176L	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.S2176L(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGAGAATACTCGAAGGCACCA	0.502																																					p.S2176L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6527T	1						.						176.0	165.0	168.0					1																	12368575		2203	4300	6503	12291162	SO:0001583	missense	55187	exon27			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.6527C>T	1.37:g.12368575C>T	ENSP00000350854:p.Ser2176Leu		12291162	NM_018156		Missense_Mutation	SNP	ENST00000358136.3	37	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.934|8.934	0.964082|0.964082	0.18583|0.18583	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.53857	.|0.6;0.6	5.72|5.72	3.8|3.8	0.43715|0.43715	.|.	.|1.439690	.|0.04390	.|N	.|0.362350	.|T	.|0.39172	.|0.1068	N|N	0.19112|0.19112	0.55|0.55	0.58432|0.58432	D|D	0.999999|0.999999	.|B;B	.|0.31599	.|0.33;0.066	.|B;B	.|0.20577	.|0.03;0.006	.|T	.|0.01238	.|-1.1409	.|10	.|0.29301	.|T	.|0.29	.|.	11.2948|11.2948	0.49272|0.49272	0.1342:0.6071:0.2587:0.0|0.1342:0.6071:0.2587:0.0	.|.	.|2176;2176	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	X|L	999|2176	.|ENSP00000348666:S2176L;ENSP00000350854:S2176L	.|ENSP00000348666:S2176L	R|S	+|+	1|2	2|0	VPS13D|VPS13D	12291162|12291162	0.866000|0.866000	0.29940|0.29940	0.474000|0.474000	0.27266|0.27266	0.034000|0.034000	0.12701|0.12701	1.512000|1.512000	0.35812|0.35812	0.717000|0.717000	0.32145|0.32145	-0.182000|-0.182000	0.12963|0.12963	CGA|TCG		0.502	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	
PRAMEF12	390999	hgsc.bcm.edu	37	1	12837670	12837670	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:12837670C>T	ENST00000357726.4	+	3	1407	c.1380C>T	c.(1378-1380)ggC>ggT	p.G460G		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	460					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.G460G(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCGCTGTGGCATCAGGGCCT	0.502																																					p.G460G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1380T	1						.						107.0	109.0	108.0					1																	12837670		2203	4300	6503	12760257	SO:0001819	synonymous_variant	390999	exon3				CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1380C>T	1.37:g.12837670C>T			12760257	NM_001080830		Silent	SNP	ENST00000357726.4	37	CCDS41254.1																																																																																				0.502	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760	
PRDM2	7799	hgsc.bcm.edu	37	1	14142940	14142940	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:14142940G>A	ENST00000235372.7	+	9	5911	c.5055G>A	c.(5053-5055)gcG>gcA	p.A1685A	PRDM2_ENST00000503842.1_Missense_Mutation_p.R13H|PRDM2_ENST00000376048.5_Missense_Mutation_p.R177H|PRDM2_ENST00000505823.1_Missense_Mutation_p.R13H	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1685					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A1685A(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TCCGCTTGGCGTCCCGATGCT	0.587																																					p.R177H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G530A	1						.						85.0	82.0	83.0					1																	14142940		2203	4300	6503	14015527	SO:0001819	synonymous_variant	7799	exon7			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.5055G>A	1.37:g.14142940G>A			14015527	NM_001135610	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	CCDS150.1	.	.	.	.	.	.	.	.	.	.	G	6.682	0.494373	0.12702	.	.	ENSG00000116731	ENST00000376048;ENST00000503842;ENST00000505823	T	0.59083	0.29	5.07	-10.1	0.00402	.	.	.	.	.	T	0.38134	0.1029	.	.	.	0.32802	D	0.500238	B	0.02656	0.0	B	0.01281	0.0	T	0.09729	-1.0661	8	0.45353	T	0.12	.	7.9987	0.30284	0.6686:0.0825:0.1708:0.0781	.	177	B1AJZ4	.	H	177;13;13	ENSP00000365216:R177H	ENSP00000365216:R177H	R	+	2	0	PRDM2	14015527	0.002000	0.14202	0.070000	0.20053	0.892000	0.51952	-3.315000	0.00515	-3.152000	0.00230	-1.814000	0.00607	CGT		0.587	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231	
MAGI3	260425	hgsc.bcm.edu	37	1	114184954	114184954	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:114184954C>T	ENST00000307546.9	+	10	1857	c.1782C>T	c.(1780-1782)gaC>gaT	p.D594D	MAGI3_ENST00000369611.4_Silent_p.D594D|MAGI3_ENST00000369617.4_Silent_p.D619D|MAGI3_ENST00000369615.1_Silent_p.D594D	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	619					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)	p.D594D(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-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)		CAATTGCTGACAGCCCTACTG	0.453																																					p.D594D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1782T	1						.						106.0	110.0	109.0					1																	114184954		2203	4300	6503	113986477	SO:0001819	synonymous_variant	260425	exon10			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.1782C>T	1.37:g.114184954C>T			113986477	NM_152900	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	37	CCDS44196.1																																																																																				0.453	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900	
CHD1L	9557	hgsc.bcm.edu	37	1	146724290	146724290	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:146724290G>A	ENST00000369258.4	+	2	160	c.140G>A	c.(139-141)cGc>cAc	p.R47H	CHD1L_ENST00000431239.1_Missense_Mutation_p.R47H|RP11-337C18.10_ENST00000606856.1_RNA|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Intron|CHD1L_ENST00000369259.3_Intron	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	47					ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)	p.R47H(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					ATTCACCTACGCTCTTACCAG	0.493																																					p.R47H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G140A	1						.						155.0	139.0	145.0					1																	146724290		2203	4300	6503	145190914	SO:0001583	missense	9557	exon2			AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.140G>A	1.37:g.146724290G>A	ENSP00000358262:p.Arg47His		145190914	NM_004284	A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	ENST00000369258.4	37	CCDS927.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080306	0.36662	.	.	ENSG00000131778	ENST00000431239;ENST00000369258	D;D	0.95137	-3.62;-3.62	5.32	2.42	0.29668	DEAD-like helicase (1);	0.108058	0.64402	N	0.000011	T	0.81074	0.4747	L	0.29908	0.895	0.58432	D	0.999999	B;B	0.34264	0.032;0.446	B;B	0.25140	0.014;0.058	T	0.78871	-0.2033	10	0.49607	T	0.09	.	7.8915	0.29680	0.2665:0.0:0.7335:0.0	.	47;47	Q86WJ1-2;Q86WJ1	.;CHD1L_HUMAN	H	47	ENSP00000389031:R47H;ENSP00000358262:R47H	ENSP00000358262:R47H	R	+	2	0	CHD1L	145190914	1.000000	0.71417	0.503000	0.27626	0.791000	0.44710	3.126000	0.50477	0.641000	0.30601	0.655000	0.94253	CGC		0.493	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284	
SV2A	9900	hgsc.bcm.edu	37	1	149882230	149882230	+	Silent	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:149882230G>T	ENST00000369146.3	-	5	1471	c.981C>A	c.(979-981)gcC>gcA	p.A327A	SV2A_ENST00000369145.1_Silent_p.A327A	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	327					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)	p.A327A(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GGAACTGGTAGGCAGAACCCA	0.582																																					p.A327A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C981A	1						.						67.0	65.0	66.0					1																	149882230		2202	4300	6502	148148854	SO:0001819	synonymous_variant	9900	exon5			AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.981C>A	1.37:g.149882230G>T			148148854	NM_014849	D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	ENST00000369146.3	37	CCDS940.1																																																																																				0.582	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1		
SEMA6C	10500	hgsc.bcm.edu	37	1	151112458	151112458	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:151112458G>A	ENST00000341697.3	-	4	1918	c.227C>T	c.(226-228)gCt>gTt	p.A76V				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	76	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.A76V(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTACCGGGCAGCCACTAGCAA	0.577																																					p.A76V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C227T	1						.						68.0	49.0	55.0					1																	151112458		2203	4300	6503	149379082	SO:0001583	missense	10500	exon4			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.227C>T	1.37:g.151112458G>A	ENSP00000344148:p.Ala76Val		149379082	NM_001178061	D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	CCDS984.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925635	0.92319	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	4.77	4.77	0.60923	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.46483	0.1395	M	0.84683	2.71	0.58432	D	0.999994	D;D;D;D	0.89917	0.997;0.996;0.996;1.0	D;D;P;D	0.80764	0.915;0.979;0.903;0.994	T	0.52931	-0.8509	10	0.87932	D	0	.	13.1493	0.59480	0.0:0.0:1.0:0.0	.	76;76;76;76	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	V	76	ENSP00000357910:A76V;ENSP00000357908:A76V;ENSP00000357909:A76V;ENSP00000344148:A76V	ENSP00000344148:A76V	A	-	2	0	SEMA6C	149379082	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.586000	0.74067	2.492000	0.84095	0.561000	0.74099	GCT		0.577	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913	
FLG	2312	hgsc.bcm.edu	37	1	152284768	152284768	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:152284768C>A	ENST00000368799.1	-	3	2629	c.2594G>T	c.(2593-2595)gGa>gTa	p.G865V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	865	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G865V(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGAGTGTCCAGACCTATC	0.572									Ichthyosis																												p.G865V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2594T	1						.						325.0	318.0	320.0					1																	152284768		2203	4300	6503	150551392	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2594G>T	1.37:g.152284768C>A	ENSP00000357789:p.Gly865Val		150551392	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	3.865	-0.029081	0.07589	.	.	ENSG00000143631	ENST00000368799	T	0.01665	4.7	3.78	-0.293	0.12835	.	.	.	.	.	T	0.00724	0.0024	M	0.81682	2.555	0.09310	N	1	P	0.41041	0.736	B	0.30029	0.11	T	0.47235	-0.9133	9	0.19147	T	0.46	.	6.462	0.21962	0.0:0.5547:0.0:0.4453	.	865	P20930	FILA_HUMAN	V	865	ENSP00000357789:G865V	ENSP00000357789:G865V	G	-	2	0	FLG	150551392	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.403000	0.07214	-0.244000	0.09639	-1.234000	0.01563	GGA		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
KPRP	448834	hgsc.bcm.edu	37	1	152733141	152733141	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:152733141G>A	ENST00000606109.1	+	1	1105	c.1077G>A	c.(1075-1077)ccG>ccA	p.P359P	KPRP_ENST00000368773.1_Silent_p.P359P			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	359	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.P359P(2)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGCCCGCAGCCCTCCT	0.647																																					p.P359P												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G1077A	1						.						49.0	52.0	51.0					1																	152733141		2203	4300	6503	150999765	SO:0001819	synonymous_variant	448834	exon2			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1077G>A	1.37:g.152733141G>A			150999765	NM_001025231		Silent	SNP	ENST00000606109.1	37	CCDS30862.1																																																																																				0.647	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231	
IVL	3713	hgsc.bcm.edu	37	1	152883698	152883698	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:152883698G>A	ENST00000368764.3	+	2	1489	c.1425G>A	c.(1423-1425)caG>caA	p.Q475Q	IVL_ENST00000392667.2_Silent_p.Q329Q			P07476	INVO_HUMAN	involucrin	475	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.Q475Q(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCCAGAGCAGCAAGAGGGCC	0.612																																					p.Q475Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1425A	1						.						46.0	52.0	50.0					1																	152883698		2179	4266	6445	151150322	SO:0001819	synonymous_variant	3713	exon2			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1425G>A	1.37:g.152883698G>A			151150322	NM_005547	Q5T7P4	Silent	SNP	ENST00000368764.3	37	CCDS1030.1																																																																																				0.612	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547	
TDRD10	126668	hgsc.bcm.edu	37	1	154516939	154516939	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:154516939G>A	ENST00000368480.3	+	10	828	c.743G>A	c.(742-744)gGg>gAg	p.G248E	TDRD10_ENST00000368482.4_Missense_Mutation_p.G248E|TDRD10_ENST00000479937.1_3'UTR			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	248	Tudor.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.G248E(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTTATGCGCGGGACTCGCTGT	0.632																																					p.G248E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G743A	1						.						35.0	34.0	34.0					1																	154516939		2203	4300	6503	152783563	SO:0001583	missense	126668	exon10			AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.743G>A	1.37:g.154516939G>A	ENSP00000357465:p.Gly248Glu		152783563	NM_182499	A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Missense_Mutation	SNP	ENST00000368480.3	37	CCDS41406.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.583983	0.46110	.	.	ENSG00000163239	ENST00000368482;ENST00000368480	T;T	0.19394	2.15;2.15	3.14	2.2	0.27929	Maternal tudor protein (1);	0.131588	0.31709	N	0.007186	T	0.15782	0.0380	L	0.29908	0.895	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.04191	-1.0970	10	0.87932	D	0	-11.0526	7.3259	0.26555	0.0:0.0:0.739:0.261	.	248;248	Q5VZ19;Q5VZ19-2	TDR10_HUMAN;.	E	248	ENSP00000357467:G248E;ENSP00000357465:G248E	ENSP00000357465:G248E	G	+	2	0	TDRD10	152783563	0.776000	0.28616	0.002000	0.10522	0.010000	0.07245	2.724000	0.47285	0.482000	0.27582	0.650000	0.86243	GGG		0.632	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499	
ZBTB7B	51043	hgsc.bcm.edu	37	1	154987865	154987865	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:154987865C>T	ENST00000368426.3	+	3	866	c.729C>T	c.(727-729)ggC>ggT	p.G243G	ZBTB7B_ENST00000535420.1_Silent_p.G243G|ZBTB7B_ENST00000292176.2_Silent_p.G243G|ZBTB7B_ENST00000417934.2_Silent_p.G277G	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	243					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G243G(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	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)			GCAGAGTGGGCAGCAGTGGGG	0.657																																					p.G243G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C729T	1						.						19.0	22.0	21.0					1																	154987865		2201	4300	6501	153254489	SO:0001819	synonymous_variant	51043	exon3			AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.729C>T	1.37:g.154987865C>T			153254489	NM_015872	B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Silent	SNP	ENST00000368426.3	37	CCDS1081.1																																																																																				0.657	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872	
THBS3	7059	hgsc.bcm.edu	37	1	155171813	155171813	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:155171813T>C	ENST00000368378.3	-	10	1131	c.1111A>G	c.(1111-1113)Atc>Gtc	p.I371V	THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000541576.1_5'Flank|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.I251V|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	371	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.I371V(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CATTCATCGATGTCATTGCAG	0.512																																					p.I371V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1111G	1						.						254.0	213.0	227.0					1																	155171813		2203	4300	6503	153438437	SO:0001583	missense	7059	exon10			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.1111A>G	1.37:g.155171813T>C	ENSP00000357362:p.Ile371Val		153438437	NM_007112	B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	T	9.837	1.189952	0.21954	.	.	ENSG00000169231	ENST00000368378;ENST00000457183;ENST00000428962	D;D;D	0.90676	-2.71;-2.71;-2.71	4.81	-0.272	0.12919	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.527792	0.19314	N	0.117309	T	0.73552	0.3601	L	0.41356	1.27	0.27006	N	0.964807	B;B;B;B	0.15473	0.013;0.007;0.001;0.007	B;B;B;B	0.24269	0.052;0.029;0.019;0.029	T	0.64529	-0.6386	10	0.30078	T	0.28	-6.4321	9.5971	0.39580	0.0:0.2215:0.0:0.7785	.	251;371;371;371	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	V	371;251;221	ENSP00000357362:I371V;ENSP00000392207:I251V;ENSP00000404040:I221V	ENSP00000357362:I371V	I	-	1	0	THBS3	153438437	0.998000	0.40836	0.073000	0.20177	0.992000	0.81027	0.913000	0.28611	0.069000	0.16605	0.482000	0.46254	ATC		0.512	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112	
ARHGEF11	9826	hgsc.bcm.edu	37	1	156907126	156907126	+	Missense_Mutation	SNP	C	C	T	rs201607774		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:156907126C>T	ENST00000361409.2	-	38	4977	c.4235G>A	c.(4234-4236)cGc>cAc	p.R1412H	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.R828H|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.R1452H|MIR765_ENST00000390226.1_RNA|ARHGEF11_ENST00000487682.1_5'UTR	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1412					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1452H(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGAGGAGAGCGGCTGGGGCG	0.627																																					p.R1452H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4355A	1						.						59.0	56.0	57.0					1																	156907126		2203	4300	6503	155173750	SO:0001583	missense	9826	exon39			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.4235G>A	1.37:g.156907126C>T	ENSP00000354644:p.Arg1412His		155173750	NM_198236	D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	C	0.025	-1.375821	0.01214	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.64991	-0.13;-0.13;-0.03	3.83	-1.29	0.09288	.	1.629770	0.03513	N	0.219885	T	0.18215	0.0437	N	0.19112	0.55	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.03403	-1.1040	10	0.14656	T	0.56	0.9519	4.0284	0.09698	0.2497:0.2662:0.0:0.4841	.	828;1412;1452	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	H	1452;1412;828	ENSP00000357177:R1452H;ENSP00000354644:R1412H;ENSP00000313470:R828H	ENSP00000313470:R828H	R	-	2	0	ARHGEF11	155173750	0.000000	0.05858	0.083000	0.20561	0.010000	0.07245	-2.112000	0.01332	-0.126000	0.11682	-0.224000	0.12420	CGC		0.627	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236	
ARHGEF11	9826	hgsc.bcm.edu	37	1	156909520	156909520	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:156909520G>A	ENST00000361409.2	-	36	4538	c.3796C>T	c.(3796-3798)Cag>Tag	p.Q1266*	ARHGEF11_ENST00000315174.8_Nonsense_Mutation_p.Q682*|ARHGEF11_ENST00000368194.3_Nonsense_Mutation_p.Q1306*|ARHGEF11_ENST00000487682.1_5'UTR	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1266					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q1306*(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTGCAAGCTGGGTGTTGTCC	0.617																																					p.Q1306X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3916T	1						.						47.0	50.0	49.0					1																	156909520		2203	4300	6503	155176144	SO:0001587	stop_gained	9826	exon37			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.3796C>T	1.37:g.156909520G>A	ENSP00000354644:p.Gln1266*		155176144	NM_198236	D3DVD0|Q5VY40|Q6PFW2	Nonsense_Mutation	SNP	ENST00000361409.2	37	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	G	45	11.520629	0.99571	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	.	.	.	4.01	1.84	0.25277	.	1.138080	0.06773	N	0.783886	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-1.6622	7.8626	0.29517	0.0:0.1755:0.6446:0.1799	.	.	.	.	X	1306;1266;682	.	ENSP00000313470:Q682X	Q	-	1	0	ARHGEF11	155176144	0.008000	0.16893	0.002000	0.10522	0.018000	0.09664	1.593000	0.36686	0.931000	0.37242	0.561000	0.74099	CAG		0.617	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236	
FCER1A	2205	hgsc.bcm.edu	37	1	159277598	159277598	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:159277598C>T	ENST00000368115.1	+	6	749	c.650C>T	c.(649-651)gCt>gTt	p.A217V	FCER1A_ENST00000368114.1_Missense_Mutation_p.A184V	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	217					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.A217V(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)	ATTCTGTTTGCTGTGGACACA	0.423																																					p.A217V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C650T	1						.						132.0	119.0	124.0					1																	159277598		2203	4300	6503	157544222	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.650C>T	1.37:g.159277598C>T	ENSP00000357097:p.Ala217Val		157544222	NM_002001		Missense_Mutation	SNP	ENST00000368115.1	37	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	C	4.154	0.026928	0.08054	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.02258	4.67;4.37	5.37	-1.05	0.10036	.	1.813320	0.02874	N	0.132074	T	0.00695	0.0023	N	0.24115	0.695	0.09310	N	0.999996	B	0.13145	0.007	B	0.10450	0.005	T	0.48917	-0.8992	10	0.39692	T	0.17	.	9.0696	0.36484	0.0:0.4857:0.0:0.5143	.	217	P12319	FCERA_HUMAN	V	217;184	ENSP00000357097:A217V;ENSP00000357096:A184V	ENSP00000357096:A184V	A	+	2	0	FCER1A	157544222	0.160000	0.22878	0.135000	0.22099	0.001000	0.01503	-1.272000	0.02826	-0.092000	0.12417	-0.808000	0.03180	GCT		0.423	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001	
PEX19	5824	hgsc.bcm.edu	37	1	160252737	160252737	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:160252737C>T	ENST00000368072.5	-	3	364	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	PEX19_ENST00000440949.3_Missense_Mutation_p.V25M|DCAF8_ENST00000608310.1_De_novo_Start_OutOfFrame|PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000556710.1_De_novo_Start_OutOfFrame	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	115					chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)	p.V115M(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCTCACCCACTCTCCCTGCA	0.488																																					p.V115M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G343A	1						.						61.0	61.0	61.0					1																	160252737		2203	4300	6503	158519361	SO:0001583	missense	5824	exon3			Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"""housekeeping gene, 33kD"""	600279	"""peroxisomal farnesylated protein"""	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.343G>A	1.37:g.160252737C>T	ENSP00000357051:p.Val115Met		158519361	NM_002857	D3DVE7|Q5QNY4|Q8NI97	Missense_Mutation	SNP	ENST00000368072.5	37	CCDS1201.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.391009	0.62066	.	.	ENSG00000162735	ENST00000368072;ENST00000429425;ENST00000440949;ENST00000392220	.	.	.	5.5	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.43299	0.1241	L	0.38175	1.15	0.80722	D	1	P	0.44195	0.828	P	0.47251	0.542	T	0.44772	-0.9306	9	0.46703	T	0.11	.	14.7354	0.69412	0.1457:0.8543:0.0:0.0	.	115	P40855	PEX19_HUMAN	M	115;95;25;95	.	ENSP00000357051:V115M	V	-	1	0	PEX19	158519361	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	5.030000	0.64128	1.314000	0.45095	0.563000	0.77884	GTG		0.488	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080642.2	NM_002857	
USP21	27005	hgsc.bcm.edu	37	1	161130594	161130594	+	Missense_Mutation	SNP	G	G	A	rs377369830		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:161130594G>A	ENST00000289865.8	+	2	385	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	USP21_ENST00000368001.1_Missense_Mutation_p.R55Q|RP11-297K8.2_ENST00000420498.1_RNA|USP21_ENST00000368002.3_Missense_Mutation_p.R55Q	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	55					histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R55Q(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CTGCCTCCCCGGCCAGGTCTG	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		19463	0.001		0.0	False		,,,				2504	0.0				p.R55Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G164A	1						.						53.0	55.0	54.0					1																	161130594		2203	4300	6503	159397218	SO:0001583	missense	27005	exon2			AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.164G>A	1.37:g.161130594G>A	ENSP00000289865:p.Arg55Gln		159397218	NM_012475	Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	ENST00000289865.8	37	CCDS30920.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891534	0.72524	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.17370	2.44;2.44;2.28	5.14	5.14	0.70334	.	1.787690	0.03110	N	0.162393	T	0.22781	0.0550	N	0.19112	0.55	0.35610	D	0.80856	D	0.69078	0.997	D	0.67725	0.953	T	0.12785	-1.0534	10	0.66056	D	0.02	.	17.538	0.87839	0.0:0.0:1.0:0.0	.	55	Q9UK80	UBP21_HUMAN	Q	55	ENSP00000356981:R55Q;ENSP00000289865:R55Q;ENSP00000356980:R55Q	ENSP00000289865:R55Q	R	+	2	0	USP21	159397218	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.460000	0.66691	2.666000	0.90696	0.561000	0.74099	CGG		0.642	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1		
ADAMTS4	9507	hgsc.bcm.edu	37	1	161161162	161161162	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:161161162G>A	ENST00000367996.5	-	9	2708	c.2280C>T	c.(2278-2280)cgC>cgT	p.R760R	ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	760	Spacer.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.R760R(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	CCCCGCTGTAGCGCAAGCTGA	0.617																																					p.R760R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2280T	1						.						56.0	49.0	51.0					1																	161161162		2203	4300	6503	159427786	SO:0001819	synonymous_variant	9507	exon9			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.2280C>T	1.37:g.161161162G>A			159427786	NM_005099	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Silent	SNP	ENST00000367996.5	37	CCDS1223.1																																																																																				0.617	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099	
NR1I3	9970	hgsc.bcm.edu	37	1	161199652	161199652	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:161199652A>G	ENST00000367982.4	-	9	1149	c.994T>C	c.(994-996)Tac>Cac	p.Y332H	NR1I3_ENST00000442691.2_Intron|MIR5187_ENST00000583479.1_RNA|NR1I3_ENST00000367981.3_Missense_Mutation_p.Y304H|TOMM40L_ENST00000367988.3_3'UTR|NR1I3_ENST00000437437.2_Intron|NR1I3_ENST00000505005.1_Intron|TOMM40L_ENST00000474486.1_3'UTR|NR1I3_ENST00000479324.1_5'UTR|NR1I3_ENST00000367979.2_Missense_Mutation_p.Y337H|NR1I3_ENST00000367980.2_Missense_Mutation_p.Y337H|NR1I3_ENST00000428574.2_Intron|NR1I3_ENST00000511748.1_Intron|TOMM40L_ENST00000367987.1_3'UTR|NR1I3_ENST00000504010.1_Missense_Mutation_p.Y260H|NR1I3_ENST00000367984.4_Missense_Mutation_p.Y289H|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000508387.1_3'UTR|NR1I3_ENST00000515621.1_Missense_Mutation_p.Y253H|NR1I3_ENST00000508740.1_Intron|NR1I3_ENST00000412844.2_Intron|NR1I3_ENST00000502985.1_3'UTR|NR1I3_ENST00000367985.3_Missense_Mutation_p.Y294H|NR1I3_ENST00000511676.1_Missense_Mutation_p.Y299H|NR1I3_ENST00000367983.4_Missense_Mutation_p.Y328H			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	332					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.Y328H(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGGATTTGGTACCCGTAGGCC	0.567																																					p.Y337H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1009C	1						.						107.0	95.0	99.0					1																	161199652		2203	4300	6503	159466276	SO:0001583	missense	9970	exon9			Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"""Nuclear hormone receptors"""	7969	protein-coding gene	gene with protein product	"""constitutive androstane receptor"""	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.994T>C	1.37:g.161199652A>G	ENSP00000356961:p.Tyr332His		159466276	NM_001077482	E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Missense_Mutation	SNP	ENST00000367982.4	37	CCDS41430.1	.	.	.	.	.	.	.	.	.	.	A	8.448	0.852401	0.17106	.	.	ENSG00000143257	ENST00000367983;ENST00000367980;ENST00000367982;ENST00000504010;ENST00000511676;ENST00000367981;ENST00000515621;ENST00000367984;ENST00000367985;ENST00000367979	D;D;D;D;D;D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56	5.36	-3.47	0.04753	Nuclear hormone receptor, ligand-binding (2);	0.698481	0.13885	N	0.356033	T	0.77432	0.4129	N	0.20685	0.6	0.35005	D	0.756368	B;B;B;B;B;B;B;B;B	0.15141	0.0;0.0;0.002;0.0;0.002;0.002;0.001;0.0;0.012	B;B;B;B;B;B;B;B;B	0.17433	0.002;0.002;0.012;0.01;0.012;0.01;0.003;0.01;0.018	T	0.59107	-0.7516	9	0.46703	T	0.11	.	6.8947	0.24249	0.2867:0.0:0.5547:0.1586	.	289;294;328;332;337;253;260;299;304	Q6GZ85;Q0VAC9;F1D8Q1;Q14994;Q4U0F0;D6REZ7;Q6GZ87;Q6GZ68;Q6GZ84	.;.;.;NR1I3_HUMAN;.;.;.;.;.	H	328;337;332;260;299;304;253;289;294;337	ENSP00000356962:Y328H;ENSP00000356959:Y337H;ENSP00000356961:Y332H;ENSP00000424345:Y260H;ENSP00000427175:Y299H;ENSP00000356960:Y304H;ENSP00000421588:Y253H;ENSP00000356963:Y289H;ENSP00000356965:Y294H;ENSP00000356958:Y337H	ENSP00000356958:Y337H	Y	-	1	0	NR1I3	159466276	0.094000	0.21725	0.021000	0.16686	0.531000	0.34715	0.293000	0.19029	-0.436000	0.07254	-0.333000	0.08304	TAC		0.567	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2		
RGS4	5999	hgsc.bcm.edu	37	1	163044314	163044314	+	Silent	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:163044314A>G	ENST00000367909.6	+	5	922	c.582A>G	c.(580-582)tcA>tcG	p.S194S	RGS4_ENST00000421743.2_Silent_p.S291S|RGS4_ENST00000367908.4_3'UTR|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000527809.1_Silent_p.S176S|RGS4_ENST00000367906.3_Silent_p.S176S|RGS4_ENST00000531057.1_Intron	NM_001113380.1|NM_005613.5	NP_001106851.1|NP_005604.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	194					inactivation of MAPK activity (GO:0000188)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)	p.S194S(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						CCAAGAGTTCAGCAGACTGTG	0.512																																					p.S194S	Ovarian(76;1257 1738 3039 6086)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A582G	1						.						128.0	139.0	135.0					1																	163044314		2203	4300	6503	161310938	SO:0001819	synonymous_variant	5999	exon5			BC051869	CCDS1243.1, CCDS44270.1, CCDS44271.1, CCDS44272.1	1q23.3	2008-05-14	2007-08-14		ENSG00000117152	ENSG00000117152		"""Regulators of G-protein signaling"""	10000	protein-coding gene	gene with protein product		602516	"""regulator of G-protein signalling 4"", ""schizophrenia disorder 9"""	SCZD9		8602223, 8756726	Standard	NM_001102445		Approved		uc001gcl.4	P49798	OTTHUMG00000034417	ENST00000367909.6:c.582A>G	1.37:g.163044314A>G			161310938	NM_005613	A7XA56|A7XA58|A7XA59|A7YVV7|B1APZ3	Silent	SNP	ENST00000367909.6	37	CCDS1243.1																																																																																				0.512	RGS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083197.2	NM_005613	
NADK	65220	hgsc.bcm.edu	37	1	1686085	1686085	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:1686085C>G	ENST00000341426.5	-	8	962	c.741G>C	c.(739-741)gaG>gaC	p.E247D	NADK_ENST00000492768.1_5'Flank|NADK_ENST00000378625.1_Missense_Mutation_p.E392D|NADK_ENST00000344463.4_Missense_Mutation_p.E392D|NADK_ENST00000341991.3_Missense_Mutation_p.E247D|NADK_ENST00000342348.5_Missense_Mutation_p.E215D	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	247					ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.E247D(1)		NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		TCCCCCGGAGCTCCTTCACCA	0.627																																					p.E215D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G645C	1						.						116.0	111.0	113.0					1																	1686085		2203	4300	6503	1675945	SO:0001583	missense	65220	exon6			BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.741G>C	1.37:g.1686085C>G	ENSP00000341679:p.Glu247Asp		1675945	NM_001198995	A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Missense_Mutation	SNP	ENST00000341426.5	37	CCDS30565.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.397216	0.42512	.	.	ENSG00000008130	ENST00000341426;ENST00000341991;ENST00000378625;ENST00000344463;ENST00000342348	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.84	3.92	0.45320	ATP-NAD kinase, PpnK-type, alpha/beta (1);ATP-NAD kinase, PpnK-type (1);	0.048102	0.85682	D	0.000000	T	0.23649	0.0572	N	0.13168	0.305	0.37009	D	0.895645	B;B;B;B	0.27594	0.003;0.182;0.085;0.001	B;B;B;B	0.29440	0.011;0.102;0.066;0.008	T	0.15093	-1.0449	10	0.20046	T	0.44	-37.1827	8.7461	0.34587	0.0:0.8192:0.0:0.1808	.	215;392;392;247	F5GXR5;Q9H2P2;Q5QPS4;O95544	.;.;.;NADK_HUMAN	D	247;247;392;392;215	ENSP00000341679:E247D;ENSP00000344340:E247D;ENSP00000367890:E392D;ENSP00000340925:E392D;ENSP00000339727:E215D	ENSP00000341679:E247D	E	-	3	2	NADK	1675945	0.707000	0.27866	0.989000	0.46669	0.585000	0.36419	0.438000	0.21559	1.412000	0.46977	0.561000	0.74099	GAG		0.627	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018	
UCK2	7371	hgsc.bcm.edu	37	1	165876971	165876971	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:165876971C>T	ENST00000367879.4	+	7	1000	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S	UCK2_ENST00000470820.1_Missense_Mutation_p.P83S|UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000469256.2_Missense_Mutation_p.P83S|UCK2_ENST00000462329.1_3'UTR	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	233					cellular response to oxygen levels (GO:0071453)|CTP salvage (GO:0044211)|feeding behavior (GO:0007631)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to axon injury (GO:0048678)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)	p.P233S(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					GAATGGAGGGCCCTCCAAACG	0.612																																					p.P233S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C697T	1						.						141.0	117.0	125.0					1																	165876971		2203	4300	6503	164143595	SO:0001583	missense	7371	exon7			AF236637	CCDS1252.1	1p32	2012-10-02	2004-07-13	2004-07-14	ENSG00000143179	ENSG00000143179	2.7.1.48		12562	protein-coding gene	gene with protein product		609329	"""uridine monophosphate kinase"""	UMPK			Standard	NM_012474		Approved		uc001gdp.3	Q9BZX2	OTTHUMG00000040117	ENST00000367879.4:c.697C>T	1.37:g.165876971C>T	ENSP00000356853:p.Pro233Ser		164143595	NM_012474	Q5VV91|Q7KZV3|Q92528|Q96KG5|Q9BU42	Missense_Mutation	SNP	ENST00000367879.4	37	CCDS1252.1	.	.	.	.	.	.	.	.	.	.	C	3.871	-0.027827	0.07589	.	.	ENSG00000143179	ENST00000367879	.	.	.	5.4	3.48	0.39840	.	0.462816	0.22150	N	0.063927	T	0.05731	0.0150	N	0.08118	0	0.22954	N	0.998512	B;B	0.02656	0.0;0.0	B;B	0.11329	0.006;0.004	T	0.33854	-0.9852	8	0.09084	T	0.74	-1.2741	4.2759	0.10809	0.1661:0.5901:0.1599:0.084	.	83;233	Q9BZX2-2;Q9BZX2	.;UCK2_HUMAN	S	233	.	ENSP00000356853:P233S	P	+	1	0	UCK2	164143595	0.000000	0.05858	0.224000	0.23877	0.985000	0.73830	0.691000	0.25467	0.618000	0.30179	0.655000	0.94253	CCC		0.612	UCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096753.1	NM_012474	
PRRX1	5396	hgsc.bcm.edu	37	1	170695497	170695497	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:170695497C>T	ENST00000239461.6	+	3	867	c.554C>T	c.(553-555)cCg>cTg	p.P185L	PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000497230.2_Missense_Mutation_p.P185L|PRRX1_ENST00000367760.3_Missense_Mutation_p.P185L	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	185					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.P185L(3)		large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CGTCCTGCTCCGAGACCCACC	0.557																																					p.P185L												.	.	3	Substitution - Missense(3)	endometrium(2)|large_intestine(1)	c.C554T	1						.						108.0	96.0	100.0					1																	170695497		2203	4300	6503	168962121	SO:0001583	missense	5396	exon3			M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.554C>T	1.37:g.170695497C>T	ENSP00000239461:p.Pro185Leu		168962121	NM_006902	B5BUM7|O60807	Missense_Mutation	SNP	ENST00000239461.6	37	CCDS1290.1	.	.	.	.	.	.	.	.	.	.	C	33	5.232649	0.95207	.	.	ENSG00000116132	ENST00000367760;ENST00000239461;ENST00000497230;ENST00000476867;ENST00000495280	D;D;D;T	0.93426	-2.99;-3.22;-3.0;-1.18	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.94994	0.8380	L	0.60455	1.87	0.80722	D	1	D;P	0.89917	1.0;0.82	D;B	0.74023	0.982;0.177	D	0.93775	0.7078	10	0.36615	T	0.2	.	17.7361	0.88394	0.0:1.0:0.0:0.0	.	185;185	P54821;P54821-2	PRRX1_HUMAN;.	L	185;185;185;30;30	ENSP00000356734:P185L;ENSP00000239461:P185L;ENSP00000450762:P185L;ENSP00000451225:P30L	ENSP00000239461:P185L	P	+	2	0	PRRX1	168962121	1.000000	0.71417	0.868000	0.34077	0.988000	0.76386	7.279000	0.78599	2.533000	0.85409	0.650000	0.86243	CCG		0.557	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085236.3	NM_006902	
ATP13A2	23400	hgsc.bcm.edu	37	1	17318990	17318990	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:17318990C>T	ENST00000326735.8	-	17	1869	c.1836G>A	c.(1834-1836)ctG>ctA	p.L612L	ATP13A2_ENST00000341676.5_Silent_p.L607L|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000452699.1_Silent_p.L607L			Q9NQ11	AT132_HUMAN	ATPase type 13A2	612					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.L612L(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CCATTGCCTGCAGCTGGGGCT	0.662																																					p.L612L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1836A	1						.						80.0	84.0	83.0					1																	17318990		2203	4299	6502	17191577	SO:0001819	synonymous_variant	23400	exon17			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.1836G>A	1.37:g.17318990C>T			17191577	NM_022089	O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Silent	SNP	ENST00000326735.8	37	CCDS175.1																																																																																				0.662	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089	
ANKRD45	339416	hgsc.bcm.edu	37	1	173579320	173579320	+	Silent	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:173579320A>G	ENST00000333279.2	-	6	825	c.765T>C	c.(763-765)caT>caC	p.H255H	RP3-436N22.3_ENST00000431459.1_RNA	NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	271								p.H255H(1)		NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TCTTCTGGTCATGGCTTGTTA	0.348																																					p.H255H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T765C	1						.						211.0	186.0	194.0					1																	173579320		2203	4300	6503	171845943	SO:0001819	synonymous_variant	339416	exon6				CCDS1309.1	1q25.1	2013-01-10			ENSG00000183831	ENSG00000183831		"""Ankyrin repeat domain containing"""	24786	protein-coding gene	gene with protein product	"""cancer/testis antigen 117"""						Standard	NM_198493		Approved	FLJ45235, CT117	uc001gja.1	Q5TZF3	OTTHUMG00000040546	ENST00000333279.2:c.765T>C	1.37:g.173579320A>G			171845943	NM_198493	A1A4G2|Q6ZST1	Silent	SNP	ENST00000333279.2	37	CCDS1309.1																																																																																				0.348	ANKRD45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097580.2	NM_198493	
KLHL20	27252	hgsc.bcm.edu	37	1	173725076	173725076	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:173725076A>C	ENST00000209884.4	+	6	1002	c.866A>C	c.(865-867)gAg>gCg	p.E289A	KLHL20_ENST00000546011.1_Missense_Mutation_p.E100A	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	289					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)	p.E289A(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						TTGGTAGATGAGGCTAAAAAC	0.403																																					p.E289A	GBM(159;862 2695 6559 23041)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A866C	1						.						89.0	83.0	85.0					1																	173725076		2203	4300	6503	171991699	SO:0001583	missense	27252	exon6			AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.866A>C	1.37:g.173725076A>C	ENSP00000209884:p.Glu289Ala		171991699	NM_014458	B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	ENST00000209884.4	37	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.585692	0.86748	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	T;T	0.72942	-0.43;-0.7	5.41	5.41	0.78517	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.86377	0.5918	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.72338	0.977;0.977	D	0.90586	0.4533	10	0.87932	D	0	.	14.4391	0.67303	1.0:0.0:0.0:0.0	.	100;289	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	A	100;289	ENSP00000443121:E100A;ENSP00000209884:E289A	ENSP00000209884:E289A	E	+	2	0	KLHL20	171991699	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.009000	0.93606	2.027000	0.59764	0.533000	0.62120	GAG		0.403	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458	
RC3H1	149041	hgsc.bcm.edu	37	1	173941727	173941727	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:173941727G>T	ENST00000367696.2	-	8	1492	c.1141C>A	c.(1141-1143)Ctg>Atg	p.L381M	RC3H1_ENST00000367694.2_Missense_Mutation_p.L381M|RC3H1_ENST00000258349.4_Missense_Mutation_p.L381M			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	381					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L381M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						ACAGCAACCAGCCCATTTTCC	0.408																																					p.L381M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1141A	1						.						153.0	130.0	138.0					1																	173941727		2203	4300	6503	172208350	SO:0001583	missense	149041	exon7			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.1141C>A	1.37:g.173941727G>T	ENSP00000356669:p.Leu381Met		172208350	NM_172071	B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162289	0.38217	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.50813	0.73;0.73;0.73	5.66	2.72	0.32119	.	0.000000	0.85682	D	0.000000	T	0.37433	0.1003	N	0.08118	0	0.53688	D	0.999978	D;D;D;D	0.56521	0.959;0.959;0.976;0.973	P;P;P;P	0.56960	0.65;0.65;0.81;0.8	T	0.06991	-1.0796	10	0.14656	T	0.56	-11.6954	12.0847	0.53690	0.1986:0.0:0.8014:0.0	.	381;381;381;381	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	M	381	ENSP00000356669:L381M;ENSP00000258349:L381M;ENSP00000356667:L381M	ENSP00000258349:L381M	L	-	1	2	RC3H1	172208350	0.114000	0.22134	0.853000	0.33588	0.988000	0.76386	0.423000	0.21313	0.852000	0.35287	0.655000	0.94253	CTG		0.408	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071	
RABGAP1L	9910	hgsc.bcm.edu	37	1	174671261	174671261	+	Missense_Mutation	SNP	C	C	A	rs559718707		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:174671261C>A	ENST00000251507.4	+	17	2210	c.2036C>A	c.(2035-2037)cCg>cAg	p.P679Q	RABGAP1L_ENST00000367687.1_Missense_Mutation_p.P5Q|RABGAP1L_ENST00000347255.2_Missense_Mutation_p.P6Q|RABGAP1L_ENST00000325589.5_5'UTR|RABGAP1L_ENST00000367686.3_3'UTR	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0								p.P679Q(1)|p.P6Q(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GAACAGCTACCGGACCTGCAT	0.438																																					p.P679Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2036A	1						.						124.0	117.0	120.0					1																	174671261		2203	4300	6503	172937884	SO:0001583	missense	9910	exon17			AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.2036C>A	1.37:g.174671261C>A	ENSP00000251507:p.Pro679Gln		172937884	NM_014857	B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884786	0.91814	.	.	ENSG00000152061	ENST00000251507;ENST00000367692;ENST00000367687;ENST00000347255	T;T;T	0.18810	2.19;2.19;2.19	5.8	5.8	0.92144	Rab-GAP/TBC domain (5);	0.097704	0.64402	D	0.000001	T	0.60637	0.2284	H	0.97707	4.06	0.80722	D	1	D;P	0.62365	0.991;0.649	P;P	0.57911	0.829;0.587	T	0.75752	-0.3207	10	0.87932	D	0	.	20.0567	0.97653	0.0:1.0:0.0:0.0	.	5;679	Q5R372-6;Q5R372	.;RBG1L_HUMAN	Q	679;691;5;6	ENSP00000251507:P679Q;ENSP00000356660:P5Q;ENSP00000281844:P6Q	ENSP00000251507:P679Q	P	+	2	0	RABGAP1L	172937884	1.000000	0.71417	0.905000	0.35620	0.701000	0.40568	5.762000	0.68809	2.752000	0.94435	0.650000	0.86243	CCG		0.438	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765	
ASTN1	460	hgsc.bcm.edu	37	1	177001769	177001769	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:177001769T>C	ENST00000367654.3	-	3	899	c.688A>G	c.(688-690)Acc>Gcc	p.T230A	ASTN1_ENST00000424564.2_Missense_Mutation_p.T230A|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.T230A|ASTN1_ENST00000361833.2_Missense_Mutation_p.T230A	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	230					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.T230A(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ATGCTCAGGGTGCCACTGGAG	0.602																																					p.T230A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A688G	1						.						124.0	88.0	100.0					1																	177001769		2203	4300	6503	175268392	SO:0001583	missense	460	exon3			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.688A>G	1.37:g.177001769T>C	ENSP00000356626:p.Thr230Ala		175268392	NM_004319	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37		.	.	.	.	.	.	.	.	.	.	T	13.08	2.130401	0.37630	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15487	2.42;2.84;2.84;2.43	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.29524	0.0736	L	0.27053	0.805	0.80722	D	1	D;D;D	0.67145	0.996;0.974;0.974	D;D;D	0.76071	0.987;0.969;0.969	T	0.03034	-1.1080	10	0.45353	T	0.12	-34.1007	15.4918	0.75611	0.0:0.0:0.0:1.0	.	230;230;230	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	A	230	ENSP00000356629:T230A;ENSP00000354536:T230A;ENSP00000356626:T230A;ENSP00000395041:T230A	ENSP00000354536:T230A	T	-	1	0	ASTN1	175268392	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.846000	0.69444	2.114000	0.64651	0.533000	0.62120	ACC		0.602	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319	
ZNF648	127665	hgsc.bcm.edu	37	1	182026052	182026052	+	Missense_Mutation	SNP	G	G	C	rs115402112	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:182026052G>C	ENST00000339948.3	-	2	1301	c.1094C>G	c.(1093-1095)cCg>cGg	p.P365R		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	365					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.P365L(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CTCGGAGCACGGGAAGGGCTT	0.657													G|||	27	0.00539137	0.0008	0.0043	5008	,	,		17369	0.0		0.0179	False		,,,				2504	0.0051				p.P365R	NSCLC(71;908 1374 5429 20458 35642)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1094G	1						.	G	ARG/PRO	10,4396		0,10,2193	69.0	65.0	66.0		1094	0.6	1.0	1	dbSNP_132	66	133,8467		1,131,4168	yes	missense	ZNF648	NM_001009992.1	103	1,141,6361	CC,CG,GG		1.5465,0.227,1.0995	probably-damaging	365/569	182026052	143,12863	2203	4300	6503	180292675	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.1094C>G	1.37:g.182026052G>C	ENSP00000344129:p.Pro365Arg		180292675	NM_001009992	B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	CCDS30952.1	18	0.008241758241758242	0	0.0	2	0.0055248618784530384	0	0.0	16	0.021108179419525065	G	11.55	1.671277	0.29693	0.00227	0.015465	ENSG00000179930	ENST00000339948	T	0.18502	2.21	2.64	0.574	0.17368	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05502	0.0145	L	0.37561	1.115	0.30765	N	0.743696	B	0.13145	0.007	B	0.06405	0.002	T	0.15464	-1.0436	9	0.45353	T	0.12	.	4.5886	0.12295	0.1327:0.0:0.6498:0.2175	.	365	Q5T619	ZN648_HUMAN	R	365	ENSP00000344129:P365R	ENSP00000344129:P365R	P	-	2	0	ZNF648	180292675	0.098000	0.21812	0.996000	0.52242	0.995000	0.86356	0.341000	0.19909	0.148000	0.19059	0.561000	0.74099	CCG		0.657	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597	
UBR4	23352	hgsc.bcm.edu	37	1	19426125	19426125	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:19426125T>C	ENST00000375254.3	-	90	13295	c.13268A>G	c.(13267-13269)gAa>gGa	p.E4423G	UBR4_ENST00000375217.2_Missense_Mutation_p.E4416G|UBR4_ENST00000543981.1_Intron|UBR4_ENST00000375226.2_Missense_Mutation_p.E4399G|UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000375224.1_Missense_Mutation_p.E130G|UBR4_ENST00000429347.2_5'UTR|UBR4_ENST00000375267.2_Missense_Mutation_p.E4423G	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4423					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E4423G(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTTGTAAACTTCAGCCACAGG	0.403																																					p.E4423G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A13268G	1						.						161.0	128.0	139.0					1																	19426125		2203	4300	6503	19298712	SO:0001583	missense	23352	exon90			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.13268A>G	1.37:g.19426125T>C	ENSP00000364403:p.Glu4423Gly		19298712	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.901800	0.92035	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375224	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.51346	0.1669	L	0.53249	1.67	0.80722	D	1	D;D	0.62365	0.991;0.989	D;D	0.76575	0.988;0.969	T	0.52631	-0.8550	10	0.87932	D	0	.	14.8948	0.70636	0.0:0.0:0.0:1.0	.	4423;4399	Q5T4S7;Q5T4S7-3	UBR4_HUMAN;.	G	4423;4423;4416;4399;130	ENSP00000364403:E4423G;ENSP00000364416:E4423G;ENSP00000364365:E4416G;ENSP00000364374:E4399G;ENSP00000364372:E130G	ENSP00000364365:E4416G	E	-	2	0	UBR4	19298712	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.426000	0.80270	2.194000	0.70268	0.533000	0.62120	GAA		0.403	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
RGS2	5997	hgsc.bcm.edu	37	1	192778205	192778205	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:192778205C>T	ENST00000235382.5	+	1	35	c.4C>T	c.(4-6)Caa>Taa	p.Q2*	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2	2					brown fat cell differentiation (GO:0050873)|cell cycle (GO:0007049)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phospholipase activity (GO:0010519)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of microtubule polymerization (GO:0031116)|regulation of adrenergic receptor signaling pathway (GO:0071877)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of translation (GO:0006417)|relaxation of cardiac muscle (GO:0055119)|relaxation of vascular smooth muscle (GO:0060087)|spermatogenesis (GO:0007283)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)	p.Q2*(1)		large_intestine(3)|lung(1)|urinary_tract(1)	5						AACGATAATGCAAAGTGCTAT	0.612																																					p.Q2X	Pancreas(71;51 2183 4981)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4T	1						.						133.0	121.0	125.0					1																	192778205		2203	4300	6503	191044828	SO:0001587	stop_gained	5997	exon1			L13463	CCDS1377.1	1q31	2014-06-19	2014-06-19		ENSG00000116741	ENSG00000116741		"""Regulators of G-protein signaling"", ""Endogenous ligands"""	9998	protein-coding gene	gene with protein product		600861	"""regulator of G-protein signalling 2, 24kD"", ""regulator of G-protein signalling 2, 24kDa"", ""regulator of G-protein signaling 2, 24kDa"""	G0S8		8179820	Standard	NM_002923		Approved		uc001gsl.3	P41220	OTTHUMG00000035600	ENST00000235382.5:c.4C>T	1.37:g.192778205C>T	ENSP00000235382:p.Gln2*		191044828	NM_002923	Q6I9U5	Nonsense_Mutation	SNP	ENST00000235382.5	37	CCDS1377.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350249	0.82132	.	.	ENSG00000116741	ENST00000235382	.	.	.	4.62	3.71	0.42584	.	0.110419	0.40222	N	0.001143	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	10.632	0.45543	0.0:0.9057:0.0:0.0943	.	.	.	.	X	2	.	ENSP00000235382:Q2X	Q	+	1	0	RGS2	191044828	1.000000	0.71417	0.995000	0.50966	0.321000	0.28281	3.207000	0.51106	1.305000	0.44909	0.591000	0.81541	CAA		0.612	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086396.1	NM_002923	
KCNT2	343450	hgsc.bcm.edu	37	1	196227417	196227417	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:196227417G>A	ENST00000294725.9	-	26	4033	c.3118C>T	c.(3118-3120)Cga>Tga	p.R1040*	KCNT2_ENST00000367431.4_Nonsense_Mutation_p.R974*|KCNT2_ENST00000609185.1_Nonsense_Mutation_p.R973*|KCNT2_ENST00000367433.5_Nonsense_Mutation_p.R1016*|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1040					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.R1040*(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AGGTTCAGTCGCTGCTGGGTT	0.463																																					p.R1040X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3118T	1						.						108.0	106.0	107.0					1																	196227417		2203	4300	6503	194494040	SO:0001587	stop_gained	343450	exon26			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.3118C>T	1.37:g.196227417G>A	ENSP00000294725:p.Arg1040*		194494040	NM_198503	Q3SY59|Q5VTN1|Q6ZMT3	Nonsense_Mutation	SNP	ENST00000294725.9	37	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	40	8.255176	0.98729	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	.	.	.	5.74	5.74	0.90152	.	0.000000	0.47852	D	0.000204	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.0209	14.2334	0.65908	0.0:0.0:0.7267:0.2733	.	.	.	.	X	1016;974;1040	.	ENSP00000294725:R1040X	R	-	1	2	KCNT2	194494040	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.542000	0.23222	2.710000	0.92621	0.643000	0.83706	CGA		0.463	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503	
PKP1	5317	hgsc.bcm.edu	37	1	201287907	201287907	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:201287907G>A	ENST00000352845.3	+	6	1216	c.1216G>A	c.(1216-1218)Gcc>Acc	p.A406T	PKP1_ENST00000367324.3_Missense_Mutation_p.A406T|PKP1_ENST00000263946.3_Missense_Mutation_p.A406T|PKP1_ENST00000475988.1_3'UTR			Q13835	PKP1_HUMAN	plakophilin 1	406					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)	p.A406T(1)		NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CTTCTTCAATGCCACAGGCTG	0.582																																					p.A406T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1216A	1						.						45.0	40.0	42.0					1																	201287907		2203	4300	6503	199554530	SO:0001583	missense	5317	exon6			X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"""Armadillo repeat containing"""	9023	protein-coding gene	gene with protein product	"""ectodermal dysplasia/skin fragility syndrome"""	601975	"""plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"""			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.1216G>A	1.37:g.201287907G>A	ENSP00000295597:p.Ala406Thr		199554530	NM_000299	O00645|Q14CA0|Q15152	Missense_Mutation	SNP	ENST00000352845.3	37	CCDS30966.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100064	0.94197	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.60672	0.17;0.17;0.17	4.75	4.75	0.60458	Armadillo-like helical (1);Armadillo-type fold (1);	0.148664	0.64402	N	0.000009	T	0.61073	0.2318	L	0.28014	0.82	0.80722	D	1	D;P;D	0.64830	0.994;0.946;0.966	D;P;P	0.63877	0.919;0.54;0.524	T	0.53995	-0.8359	10	0.13853	T	0.58	.	17.92	0.88963	0.0:0.0:1.0:0.0	.	14;406;406	Q14BN3;Q13835-2;Q13835	.;.;PKP1_HUMAN	T	406	ENSP00000356293:A406T;ENSP00000263946:A406T;ENSP00000295597:A406T	ENSP00000263946:A406T	A	+	1	0	PKP1	199554530	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.704000	0.84595	2.484000	0.83849	0.467000	0.42956	GCC		0.582	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299	
CNTN2	6900	hgsc.bcm.edu	37	1	205033578	205033578	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:205033578G>T	ENST00000331830.4	+	11	1653	c.1369G>T	c.(1369-1371)Gag>Tag	p.E457*	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	457	Ig-like C2-type 5.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)	p.E457*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CAAAGGCACGGAGATTTTGGT	0.632																																					p.E457X	Melanoma(183;2548 2817 37099 41192)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1369T	1						.						82.0	96.0	91.0					1																	205033578		2203	4300	6503	203300201	SO:0001587	stop_gained	6900	exon11			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1369G>T	1.37:g.205033578G>T	ENSP00000330633:p.Glu457*		203300201	NM_005076	P78432|Q5T054	Nonsense_Mutation	SNP	ENST00000331830.4	37	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	G	41	8.831891	0.98970	.	.	ENSG00000184144	ENST00000331830	.	.	.	5.33	5.33	0.75918	.	0.235808	0.29015	N	0.013416	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	18.5968	0.91231	0.0:0.0:1.0:0.0	.	.	.	.	X	457	.	ENSP00000330633:E457X	E	+	1	0	CNTN2	203300201	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.388000	0.97237	2.507000	0.84556	0.561000	0.74099	GAG		0.632	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076	
KLHDC8A	55220	hgsc.bcm.edu	37	1	205312640	205312640	+	Silent	SNP	G	G	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:205312640G>C	ENST00000367156.3	-	5	909	c.93C>G	c.(91-93)ggC>ggG	p.G31G	KLHDC8A_ENST00000367155.3_Silent_p.G31G|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000539253.1_Silent_p.G31G|KLHDC8A_ENST00000606529.1_5'Flank|KLHDC8A_ENST00000460687.1_Intron	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	31								p.G31G(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CATAGACCTGGCCCCCGGTCT	0.677																																					p.G31G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C93G	1						.						24.0	26.0	26.0					1																	205312640		2202	4299	6501	203579263	SO:0001819	synonymous_variant	55220	exon2				CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.93C>G	1.37:g.205312640G>C			203579263	NM_018203	B3KU70|Q9NVG5	Silent	SNP	ENST00000367156.3	37	CCDS30985.1																																																																																				0.677	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	NM_018203	
PLXNA2	5362	hgsc.bcm.edu	37	1	208266195	208266195	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:208266195C>T	ENST00000367033.3	-	9	2790	c.2033G>A	c.(2032-2034)cGc>cAc	p.R678H		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	678					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.R678H(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GCAGAGGTTGCGGTACTTGCA	0.542																																					p.R678H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2033A	1						.						101.0	86.0	91.0					1																	208266195		2203	4300	6503	206332818	SO:0001583	missense	5362	exon9			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.2033G>A	1.37:g.208266195C>T	ENSP00000356000:p.Arg678His		206332818	NM_025179	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	36	5.729063	0.96856	.	.	ENSG00000076356	ENST00000367033	T	0.17854	2.25	5.86	5.86	0.93980	.	0.047707	0.85682	D	0.000000	T	0.50752	0.1634	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.53704	-0.8401	10	0.59425	D	0.04	.	20.1772	0.98182	0.0:1.0:0.0:0.0	.	678	O75051	PLXA2_HUMAN	H	678	ENSP00000356000:R678H	ENSP00000356000:R678H	R	-	2	0	PLXNA2	206332818	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.490000	0.81461	2.778000	0.95560	0.655000	0.94253	CGC		0.542	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179	
KIF17	57576	hgsc.bcm.edu	37	1	21036310	21036310	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:21036310G>A	ENST00000247986.2	-	4	802	c.492C>T	c.(490-492)caC>caT	p.H164H	KIF17_ENST00000375044.1_Silent_p.H64H|KIF17_ENST00000400463.3_Silent_p.H164H			Q9P2E2	KIF17_HUMAN	kinesin family member 17	164	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.H164H(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCTTCTCTGGGTGCTCCTTCA	0.617																																					p.H164H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C492T	1						.						72.0	47.0	55.0					1																	21036310		2203	4300	6503	20908897	SO:0001819	synonymous_variant	57576	exon4			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.492C>T	1.37:g.21036310G>A			20908897	NM_001122819	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	CCDS213.1																																																																																				0.617	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816	
EIF4G3	8672	hgsc.bcm.edu	37	1	21231388	21231388	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:21231388C>A	ENST00000264211.8	-	9	1766	c.1572G>T	c.(1570-1572)gaG>gaT	p.E524D	EIF4G3_ENST00000374933.3_5'UTR|EIF4G3_ENST00000374935.3_Missense_Mutation_p.E244D|EIF4G3_ENST00000536266.1_Missense_Mutation_p.E128D|EIF4G3_ENST00000374937.3_Missense_Mutation_p.E530D|EIF4G3_ENST00000400422.1_Missense_Mutation_p.E524D|EIF4G3_ENST00000544689.1_Missense_Mutation_p.E67D|EIF4G3_ENST00000602326.1_Missense_Mutation_p.E530D	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	524					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.E530D(1)|p.E524D(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)		CCAATTCTGCCTCTAACATCT	0.378																																					p.E524D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1572T	1						.						220.0	191.0	201.0					1																	21231388		2203	4300	6503	21103975	SO:0001583	missense	8672	exon10			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.1572G>T	1.37:g.21231388C>A	ENSP00000264211:p.Glu524Asp		21103975	NM_003760	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	CCDS214.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171501	0.57584	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000374937;ENST00000536266;ENST00000374933;ENST00000544689	T;T;T;T;T;D	0.87966	1.91;1.91;2.01;1.91;1.91;-2.32	5.44	2.36	0.29203	.	0.275088	0.40908	D	0.000994	T	0.70996	0.3288	N	0.08118	0	0.80722	D	1	P;B;B;P;P	0.44946	0.846;0.329;0.274;0.824;0.716	B;B;B;B;B	0.42062	0.374;0.065;0.122;0.3;0.23	T	0.64791	-0.6324	10	0.10377	T	0.69	-16.9531	9.9635	0.41710	0.0:0.7749:0.0:0.2251	.	719;244;128;530;524	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	D	524;720;524;244;530;128;67;67	ENSP00000264211:E524D;ENSP00000383274:E524D;ENSP00000364071:E244D;ENSP00000364073:E530D;ENSP00000444693:E128D;ENSP00000444401:E67D	ENSP00000264211:E524D	E	-	3	2	EIF4G3	21103975	0.852000	0.29690	0.995000	0.50966	0.972000	0.66771	0.326000	0.19646	0.274000	0.22072	0.557000	0.71058	GAG		0.378	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760	
C1orf74	148304	hgsc.bcm.edu	37	1	209956446	209956446	+	Silent	SNP	G	G	T	rs369345992		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:209956446G>T	ENST00000294811.1	-	2	790	c.534C>A	c.(532-534)ggC>ggA	p.G178G		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	178								p.G178G(1)		endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		GAACAGGATAGCCCAGGAGGA	0.507																																					p.G178G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C534A	1						.						104.0	110.0	108.0					1																	209956446		2203	4300	6503	208023069	SO:0001819	synonymous_variant	148304	exon2			AK057807	CCDS1491.1	1q32.2	2008-02-05			ENSG00000162757	ENSG00000162757			26319	protein-coding gene	gene with protein product						12477932	Standard	NM_152485		Approved	FLJ25078	uc001hhp.1	Q96LT6	OTTHUMG00000036483	ENST00000294811.1:c.534C>A	1.37:g.209956446G>T			208023069	NM_152485		Silent	SNP	ENST00000294811.1	37	CCDS1491.1																																																																																				0.507	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088745.1	NM_152485	
ESRRG	2104	hgsc.bcm.edu	37	1	216850806	216850806	+	Silent	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:216850806A>G	ENST00000408911.3	-	2	237	c.84T>C	c.(82-84)gaT>gaC	p.D28D	ESRRG_ENST00000360012.3_Silent_p.D5D|ESRRG_ENST00000366937.1_Silent_p.D33D|ESRRG_ENST00000463665.1_Silent_p.D5D|ESRRG_ENST00000493603.1_Silent_p.D5D|ESRRG_ENST00000391890.3_Silent_p.D5D|ESRRG_ENST00000493748.1_Silent_p.D5D|ESRRG_ENST00000487276.1_Silent_p.D5D|ESRRG_ENST00000359162.2_Silent_p.D5D|ESRRG_ENST00000366940.2_Silent_p.D5D|ESRRG_ENST00000366938.2_Silent_p.D5D|ESRRG_ENST00000361395.2_Silent_p.D5D|ESRRG_ENST00000361525.3_Silent_p.D5D	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	28					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.D28D(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CAATGTGTCGATCTTTGTTTG	0.502																																					p.D5D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T15C	1						.						72.0	64.0	66.0					1																	216850806		2203	4300	6503	214917429	SO:0001819	synonymous_variant	2104	exon3			AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.84T>C	1.37:g.216850806A>G			214917429	NM_206595	A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Silent	SNP	ENST00000408911.3	37	CCDS41468.1																																																																																				0.502	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595	
IARS2	55699	hgsc.bcm.edu	37	1	220316304	220316304	+	Missense_Mutation	SNP	G	G	A	rs201910429		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:220316304G>A	ENST00000302637.5	+	21	2683	c.2579G>A	c.(2578-2580)cGt>cAt	p.R860H	IARS2_ENST00000467924.1_3'UTR|IARS2_ENST00000366922.1_Missense_Mutation_p.R788H	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	860					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.R860H(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AGTGTTTTCCGTACTGGGTGG	0.408																																					p.R860H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2579A	1						.	G	HIS/ARG	0,4406		0,0,2203	125.0	126.0	126.0		2579	5.8	0.7	1		126	1,8599	1.2+/-3.3	0,1,4299	no	missense	IARS2	NM_018060.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	860/1013	220316304	1,13005	2203	4300	6503	218382927	SO:0001583	missense	55699	exon21			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.2579G>A	1.37:g.220316304G>A	ENSP00000303279:p.Arg860His		218382927	NM_018060	B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	ENST00000302637.5	37	CCDS1523.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562472	0.65538	0.0	1.16E-4	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.11169	2.8;2.8	5.77	5.77	0.91146	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.106321	0.64402	D	0.000006	T	0.28167	0.0695	L	0.45137	1.4	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.00126	-1.2020	10	0.40728	T	0.16	-20.3688	19.9981	0.97395	0.0:0.0:1.0:0.0	.	860	Q9NSE4	SYIM_HUMAN	H	788;860	ENSP00000355889:R788H;ENSP00000303279:R860H	ENSP00000303279:R860H	R	+	2	0	IARS2	218382927	1.000000	0.71417	0.702000	0.30337	0.846000	0.48090	3.759000	0.55227	2.729000	0.93468	0.655000	0.94253	CGT		0.408	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060	
TAF1A	9015	hgsc.bcm.edu	37	1	222737433	222737433	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:222737433A>G	ENST00000352967.4	-	8	1117	c.929T>C	c.(928-930)aTg>aCg	p.M310T	TAF1A_ENST00000366890.1_Missense_Mutation_p.M196T|TAF1A_ENST00000391882.1_Missense_Mutation_p.M196T|TAF1A_ENST00000350027.4_Missense_Mutation_p.M310T	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	310					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|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 from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)	p.M310T(1)		kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		GAATTCCAACATCAATTTATG	0.303																																					p.M310T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T929C	1						.						75.0	78.0	77.0					1																	222737433		2200	4299	6499	220804056	SO:0001583	missense	9015	exon8			L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"""			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.929T>C	1.37:g.222737433A>G	ENSP00000327072:p.Met310Thr		220804056	NM_005681	B2RDZ8|D3DTB7|Q9NWA1	Missense_Mutation	SNP	ENST00000352967.4	37	CCDS1531.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.286512	0.59867	.	.	ENSG00000143498	ENST00000366890;ENST00000350027;ENST00000352967;ENST00000391882;ENST00000433270;ENST00000391883	T;T;T	0.51325	0.71;0.71;0.96	5.64	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.67896	0.2942	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.70699	-0.4800	10	0.87932	D	0	-6.6993	10.5225	0.44927	0.9229:0.0:0.0771:0.0	.	310	Q15573	TAF1A_HUMAN	T	196;310;310;196;272;272	ENSP00000339976:M310T;ENSP00000327072:M310T;ENSP00000375755:M272T	ENSP00000339976:M310T	M	-	2	0	TAF1A	220804056	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	6.602000	0.74141	0.982000	0.38575	0.402000	0.26972	ATG		0.303	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091493.2	NM_005681	
WNT4	54361	hgsc.bcm.edu	37	1	22447775	22447775	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:22447775G>A	ENST00000290167.6	-	4	560	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	WNT4_ENST00000542383.1_Missense_Mutation_p.R118W	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	173					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|embryonic epithelial tube formation (GO:0001838)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization to plasma membrane (GO:0090002)|female gonad development (GO:0008585)|female sex determination (GO:0030237)|immature T cell proliferation in thymus (GO:0033080)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|mammary gland epithelium development (GO:0061180)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric nephron morphogenesis (GO:0072273)|metanephric tubule formation (GO:0072174)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of gene expression (GO:0010629)|negative regulation of male gonad development (GO:2000019)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of testicular blood vessel morphogenesis (GO:0061369)|negative regulation of testosterone biosynthetic process (GO:2000225)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of wound healing (GO:0061045)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via MAPK cascade (GO:0038030)|oocyte development (GO:0048599)|paramesonephric duct development (GO:0061205)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cortisol biosynthetic process (GO:2000066)|positive regulation of dermatome development (GO:0061184)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of meiosis (GO:0045836)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|protein palmitoylation (GO:0018345)|regulation of cell-cell adhesion (GO:0022407)|renal vesicle formation (GO:0072033)|renal vesicle induction (GO:0072034)|smooth muscle cell differentiation (GO:0051145)|somatotropin secreting cell differentiation (GO:0060126)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription corepressor activity (GO:0003714)	p.R173W(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CTTCTCTCCCGCACATCCACA	0.602																																					p.R173W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C517T	1						.						97.0	87.0	90.0					1																	22447775		2203	4300	6503	22320362	SO:0001583	missense	54361	exon4			AL031281	CCDS223.1	1p36.23-p35.1	2013-02-28			ENSG00000162552	ENSG00000162552		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12783	protein-coding gene	gene with protein product		603490				8168088	Standard	NM_030761		Approved	WNT-4	uc001bfs.4	P56705	OTTHUMG00000002894	ENST00000290167.6:c.517C>T	1.37:g.22447775G>A	ENSP00000290167:p.Arg173Trp		22320362	NM_030761	B4DJF9|Q5TZQ0|Q96T81|Q9BXF5|Q9H1J8|Q9UJM2	Missense_Mutation	SNP	ENST00000290167.6	37	CCDS223.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814377	0.70912	.	.	ENSG00000162552	ENST00000290167;ENST00000542383	T;T	0.77750	-1.12;-1.12	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	D	0.87672	0.6236	M	0.86268	2.805	0.58432	D	0.999999	D	0.89917	1.0	D	0.77004	0.989	D	0.89129	0.3508	10	0.87932	D	0	.	11.0968	0.48150	0.0:0.0:0.8145:0.1855	.	173	P56705	WNT4_HUMAN	W	173;118	ENSP00000290167:R173W;ENSP00000441033:R118W	ENSP00000290167:R173W	R	-	1	2	WNT4	22320362	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	3.351000	0.52232	2.120000	0.65058	0.555000	0.69702	CGG		0.602	WNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008088.2		
WDR26	80232	hgsc.bcm.edu	37	1	224599228	224599228	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:224599228C>A	ENST00000414423.2	-	7	1252	c.1059G>T	c.(1057-1059)gaG>gaT	p.E353D	WDR26_ENST00000295024.6_Missense_Mutation_p.E206D|WDR26_ENST00000366852.2_3'UTR	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	353						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E206D(1)|p.E353D(1)		biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		CATTACAATGCTCCGTAAGTA	0.353																																					p.E353D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1059T	1						.						147.0	132.0	137.0					1																	224599228		2203	4300	6503	222665851	SO:0001583	missense	80232	exon7			AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.1059G>T	1.37:g.224599228C>A	ENSP00000408108:p.Glu353Asp		222665851	NM_025160	A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	ENST00000414423.2	37	CCDS31037.2	.	.	.	.	.	.	.	.	.	.	C	8.426	0.847576	0.17034	.	.	ENSG00000162923	ENST00000414423;ENST00000295024	T;T	0.60299	0.2;0.2	5.3	3.39	0.38822	.	0.000000	0.85682	D	0.000000	T	0.44829	0.1312	L	0.35854	1.095	0.80722	D	1	B	0.12630	0.006	B	0.17722	0.019	T	0.30357	-0.9981	10	0.16896	T	0.51	.	12.7536	0.57321	0.0:0.8591:0.0:0.1409	.	337	Q9H7D7-2	.	D	353;206	ENSP00000408108:E353D;ENSP00000295024:E206D	ENSP00000295024:E206D	E	-	3	2	WDR26	222665851	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.180000	0.50895	1.355000	0.45865	0.563000	0.77884	GAG		0.353	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160	
ENAH	55740	hgsc.bcm.edu	37	1	225692754	225692754	+	Splice_Site	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:225692754G>A	ENST00000366844.3	-	12	1991	c.1540C>T	c.(1540-1542)Cgg>Tgg	p.R514W	ENAH_ENST00000284563.6_Intron|ENAH_ENST00000366843.2_Intron	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	514	EVH2.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)	p.R514W(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		GGAGAATCCCGTCTATGAAGG	0.333																																					p.R514W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1540T	1						.						95.0	96.0	96.0					1																	225692754		2203	4300	6503	223759377	SO:0001630	splice_region_variant	55740	exon12			AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"""mammalian enabled"""	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.1539-1C>T	1.37:g.225692754G>A			223759377	NM_001008493	D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Missense_Mutation	SNP	ENST00000366844.3	37	CCDS31041.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634137	0.87660	.	.	ENSG00000154380	ENST00000366844	D	0.85088	-1.94	5.87	5.87	0.94306	.	.	.	.	.	D	0.85225	0.5648	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.87781	0.2612	9	0.62326	D	0.03	.	17.7375	0.88397	0.0:0.0:1.0:0.0	.	514	Q8N8S7	ENAH_HUMAN	W	514	ENSP00000355809:R514W	ENSP00000355809:R514W	R	-	1	2	ENAH	223759377	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.170000	0.77587	2.941000	0.99782	0.655000	0.94253	CGG		0.333	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357426.2	NM_018212	Missense_Mutation
EPHX1	2052	hgsc.bcm.edu	37	1	226016525	226016525	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:226016525G>T	ENST00000366837.4	+	2	291	c.95G>T	c.(94-96)gGg>gTg	p.G32V	EPHX1_ENST00000272167.5_Missense_Mutation_p.G32V	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	32					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)	p.G32V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CTTGAAGATGGGTGGTGGGGG	0.567																																					p.G32V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G95T	1						.						47.0	43.0	44.0					1																	226016525		2203	4300	6503	224083148	SO:0001583	missense	2052	exon2			J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.95G>T	1.37:g.226016525G>T	ENSP00000355802:p.Gly32Val		224083148	NM_001136018	B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.438793	0.62955	.	.	ENSG00000143819	ENST00000445856;ENST00000272167;ENST00000448202;ENST00000366837	T;T;T;T	0.17854	2.54;3.63;2.25;3.63	5.0	4.05	0.47172	.	0.000000	0.85682	D	0.000000	T	0.22781	0.0550	M	0.77103	2.36	0.80722	D	1	P	0.40431	0.717	B	0.37387	0.248	T	0.10177	-1.0641	10	0.31617	T	0.26	-4.2658	15.4062	0.74881	0.0:0.139:0.861:0.0	.	32	P07099	HYEP_HUMAN	V	32	ENSP00000398491:G32V;ENSP00000272167:G32V;ENSP00000408469:G32V;ENSP00000355802:G32V	ENSP00000272167:G32V	G	+	2	0	EPHX1	224083148	1.000000	0.71417	0.924000	0.36721	0.837000	0.47467	6.274000	0.72587	2.316000	0.78162	0.462000	0.41574	GGG		0.567	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120	
LIN9	286826	hgsc.bcm.edu	37	1	226453283	226453283	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:226453283G>A	ENST00000328205.5	-	10	1582	c.1037C>T	c.(1036-1038)tCt>tTt	p.S346F	LIN9_ENST00000481685.1_Missense_Mutation_p.S311F|LIN9_ENST00000366801.1_Missense_Mutation_p.S295F	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	330					DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)		p.S346F(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TTCAGTGTCAGAGCCAGAAAT	0.348																																					p.S346F	Ovarian(197;1696 2974 11248 14117)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1037T	1						.						74.0	71.0	72.0					1																	226453283		2203	4300	6503	224519906	SO:0001583	missense	286826	exon10			AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"""TUDOR gene similar"", ""rb related pathway actor"""	609375	"""lin-9 homolog (C. elegans)"""			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.1037C>T	1.37:g.226453283G>A	ENSP00000329102:p.Ser346Phe		224519906	NM_173083	Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	ENST00000328205.5	37	CCDS1553.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.786053	0.70337	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685;ENST00000366807	.	.	.	5.96	5.96	0.96718	.	0.283599	0.41097	D	0.000955	T	0.44371	0.1290	N	0.14661	0.345	0.53688	D	0.999979	P;B;B	0.47409	0.895;0.246;0.38	B;B;B	0.43575	0.424;0.051;0.191	T	0.49643	-0.8918	9	0.66056	D	0.02	.	20.422	0.99049	0.0:0.0:1.0:0.0	.	311;330;480	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	F	306;346;401;295;311;480	.	ENSP00000329102:S346F	S	-	2	0	LIN9	224519906	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.015000	0.70791	2.832000	0.97577	0.655000	0.94253	TCT		0.348	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091523.2	NM_173083	
CDC42BPA	8476	hgsc.bcm.edu	37	1	227216757	227216757	+	Missense_Mutation	SNP	G	G	A	rs371007688		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:227216757G>A	ENST00000366769.3	-	29	5219	c.3928C>T	c.(3928-3930)Cgc>Tgc	p.R1310C	CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R1290C|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R1345C|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R1323C|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R1310C|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R1282C|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R1229C	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.R1345C(1)|p.R1310C(1)|p.R1229C(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GCTCCATGGCGCACCTTTCCA	0.443																																					p.R1229C												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C3685T	1						.	G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	70.0	58.0	62.0		3928,3685	4.4	0.9	1		62	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CDC42BPA	NM_003607.3,NM_014826.4	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	1310/1720,1229/1639	227216757	1,13005	2203	4300	6503	225283380	SO:0001583	missense	8476	exon28			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.3928C>T	1.37:g.227216757G>A	ENSP00000355731:p.Arg1310Cys		225283380	NM_014826		Missense_Mutation	SNP	ENST00000366769.3	37	CCDS1558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.66|13.66	2.303276|2.303276	0.40795|0.40795	0.0|0.0	1.16E-4|1.16E-4	ENSG00000143776|ENSG00000143776	ENST00000448940;ENST00000442054;ENST00000429440;ENST00000441725|ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765	.|T;T;T;T;T;T;T	.|0.05382	.|3.45;3.45;3.45;3.45;3.45;3.45;3.45	5.32|5.32	4.38|4.38	0.52667|0.52667	.|.	.|0.203866	.|0.52532	.|N	.|0.000079	T|T	0.07188|0.07188	0.0182|0.0182	L|L	0.42245|0.42245	1.32|1.32	0.58432|0.58432	D|D	0.999999|0.999999	.|B;B;B;B;B;B;B;B	.|0.29378	.|0.011;0.042;0.014;0.017;0.243;0.054;0.007;0.006	.|B;B;B;B;B;B;B;B	.|0.23419	.|0.001;0.013;0.015;0.024;0.046;0.018;0.001;0.02	T|T	0.21143|0.21143	-1.0254|-1.0254	5|10	.|0.44086	.|T	.|0.13	.|.	13.4577|13.4577	0.61208|0.61208	0.0786:0.0:0.9214:0.0|0.0786:0.0:0.9214:0.0	.|.	.|1290;1282;625;207;1229;1310;1345;512	.|F5H5N0;Q5VT25-4;E9PEF7;Q5T7A7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799	.|.;.;.;.;.;.;.;.	V|C	512;638;207;534|1310;1229;1310;1345;1282;625;1290;1323	.|ENSP00000355731:R1310C;ENSP00000355729:R1229C;ENSP00000335341:R1310C;ENSP00000355728:R1345C;ENSP00000355726:R1282C;ENSP00000443275:R1290C;ENSP00000355727:R1323C	.|ENSP00000335341:R1310C	A|R	-|-	2|1	0|0	CDC42BPA|CDC42BPA	225283380|225283380	1.000000|1.000000	0.71417|0.71417	0.881000|0.881000	0.34555|0.34555	0.990000|0.990000	0.78478|0.78478	5.603000|5.603000	0.67619|0.67619	1.325000|1.325000	0.45301|0.45301	0.585000|0.585000	0.79938|0.79938	GCG|CGC		0.443	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826	
EPHA8	2046	hgsc.bcm.edu	37	1	22903061	22903061	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:22903061C>T	ENST00000166244.3	+	3	583	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	EPHA8_ENST00000374644.4_Missense_Mutation_p.R171C|EPHA8_ENST00000538803.1_Missense_Mutation_p.R171C	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	171	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.R171C(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CACGGAGGTGCGCAGTGTGGG	0.582																																					p.R171C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C511T	1						.						91.0	80.0	83.0					1																	22903061		2203	4300	6503	22775648	SO:0001583	missense	2046	exon3			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.511C>T	1.37:g.22903061C>T	ENSP00000166244:p.Arg171Cys		22775648	NM_020526	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	CCDS225.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433318	0.62844	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.11063	2.81;2.81;2.81	4.07	4.07	0.47477	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000001	T	0.29389	0.0732	M	0.75150	2.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.01545	-1.1328	10	0.62326	D	0.03	.	9.2471	0.37532	0.3343:0.6657:0.0:0.0	.	171;171	P29322;P29322-2	EPHA8_HUMAN;.	C	171	ENSP00000166244:R171C;ENSP00000363775:R171C;ENSP00000440274:R171C	ENSP00000166244:R171C	R	+	1	0	EPHA8	22775648	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.402000	0.44521	2.097000	0.63578	0.442000	0.29010	CGC		0.582	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526	
ABCB10	23456	hgsc.bcm.edu	37	1	229657368	229657368	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:229657368G>A	ENST00000344517.4	-	11	1963	c.1921C>T	c.(1921-1923)Cgg>Tgg	p.R641W	ABCB10_ENST00000498158.1_5'Flank	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	641	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.R641W(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				ATCGCAATCCGCTGTTTCTGC	0.353																																					p.R641W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1921T	1						.						63.0	67.0	66.0					1																	229657368		2203	4300	6503	227723991	SO:0001583	missense	23456	exon11			U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.1921C>T	1.37:g.229657368G>A	ENSP00000355637:p.Arg641Trp		227723991	NM_012089	Q13040|Q6P1Q8|Q9H3V0	Missense_Mutation	SNP	ENST00000344517.4	37	CCDS1580.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865671	0.71949	.	.	ENSG00000135776	ENST00000344517	D	0.89939	-2.59	5.01	2.87	0.33458	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.95784	0.8628	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95892	0.8908	10	0.87932	D	0	-26.0001	13.5149	0.61535	0.0:0.0:0.6505:0.3495	.	641	Q9NRK6	ABCBA_HUMAN	W	641	ENSP00000355637:R641W	ENSP00000355637:R641W	R	-	1	2	ABCB10	227723991	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.970000	0.56824	0.417000	0.25871	0.591000	0.81541	CGG		0.353	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089	
TAF5L	27097	hgsc.bcm.edu	37	1	229730672	229730672	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:229730672T>C	ENST00000366676.1	-	4	1141	c.1142A>G	c.(1141-1143)cAa>cGa	p.Q381R	TAF5L_ENST00000258281.2_Missense_Mutation_p.Q381R			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	381					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.Q381R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GGCATGTCCTTGGTACAACAC	0.542																																					p.Q381R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1142G	1						.						129.0	106.0	114.0					1																	229730672		2203	4300	6503	227797295	SO:0001583	missense	27097	exon5			AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.1142A>G	1.37:g.229730672T>C	ENSP00000355636:p.Gln381Arg		227797295	NM_014409	Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	ENST00000366676.1	37	CCDS1581.1	.	.	.	.	.	.	.	.	.	.	T	9.401	1.077943	0.20227	.	.	ENSG00000135801	ENST00000366676;ENST00000258281	T;T	0.58940	0.3;0.3	5.88	4.76	0.60689	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.175594	0.53938	N	0.000059	T	0.28665	0.0710	N	0.01410	-0.885	0.44816	D	0.997826	B	0.15141	0.012	B	0.14578	0.011	T	0.06917	-1.0800	10	0.32370	T	0.25	-12.6893	11.7974	0.52108	0.0:0.0683:0.0:0.9317	.	381	O75529	TAF5L_HUMAN	R	381	ENSP00000355636:Q381R;ENSP00000258281:Q381R	ENSP00000258281:Q381R	Q	-	2	0	TAF5L	227797295	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.400000	0.44504	1.048000	0.40298	0.533000	0.62120	CAA		0.542	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409	
GALNT2	2590	hgsc.bcm.edu	37	1	230381876	230381876	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:230381876C>T	ENST00000366672.4	+	8	869	c.797C>T	c.(796-798)gCa>gTa	p.A266V	GALNT2_ENST00000541865.1_Missense_Mutation_p.A176V|GALNT2_ENST00000543760.1_Missense_Mutation_p.A228V	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	266					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.A266V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TATGTGGGGGCATCTGCTGAC	0.493																																					p.A266V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C797T	1						.						162.0	136.0	145.0					1																	230381876		2203	4300	6503	228448499	SO:0001583	missense	2590	exon8			BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.797C>T	1.37:g.230381876C>T	ENSP00000355632:p.Ala266Val		228448499	NM_004481	A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	ENST00000366672.4	37	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	C	33	5.242789	0.95272	.	.	ENSG00000143641	ENST00000543760;ENST00000366672;ENST00000543291;ENST00000541865	T;T;T	0.59502	0.26;0.26;0.26	5.32	5.32	0.75619	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.76644	0.4016	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.78780	-0.2070	10	0.62326	D	0.03	.	17.7699	0.88489	0.0:1.0:0.0:0.0	.	266;228	Q10471;G3V1S6	GALT2_HUMAN;.	V	228;266;147;176	ENSP00000445017:A228V;ENSP00000355632:A266V;ENSP00000444346:A176V	ENSP00000355632:A266V	A	+	2	0	GALNT2	228448499	1.000000	0.71417	0.948000	0.38648	0.845000	0.48019	7.410000	0.80065	2.492000	0.84095	0.313000	0.20887	GCA		0.493	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481	
C1QB	713	hgsc.bcm.edu	37	1	22987679	22987679	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:22987679C>T	ENST00000314933.6	+	3	694	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	C1QB_ENST00000509305.1_Missense_Mutation_p.R186W	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	188	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)		p.R188W(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CATGCGTGGCCGGGAGCGTGC	0.607																																					p.R188W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C562T	1						.						72.0	64.0	66.0					1																	22987679		2203	4300	6503	22860266	SO:0001583	missense	713	exon3			X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.562C>T	1.37:g.22987679C>T	ENSP00000313967:p.Arg188Trp		22860266	NM_000491	Q5T959|Q96H17	Missense_Mutation	SNP	ENST00000314933.6	37	CCDS228.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877468	0.51801	.	.	ENSG00000173369	ENST00000509305;ENST00000432749;ENST00000314933	T;T;T	0.77229	-1.08;-1.08;-1.08	4.67	3.76	0.43208	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.499688	0.20001	N	0.101337	D	0.85986	0.5825	M	0.84433	2.695	0.35571	D	0.805482	D	0.89917	1.0	D	0.66602	0.945	D	0.88345	0.2977	9	.	.	.	.	7.0291	0.24956	0.1713:0.7397:0.0:0.089	.	188	P02746	C1QB_HUMAN	W	186;186;188	ENSP00000423689:R186W;ENSP00000404606:R186W;ENSP00000313967:R188W	.	R	+	1	2	C1QB	22860266	0.020000	0.18652	0.998000	0.56505	0.604000	0.37047	0.122000	0.15687	1.336000	0.45506	0.561000	0.74099	CGG		0.607	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000491	
PGBD5	79605	hgsc.bcm.edu	37	1	230492717	230492717	+	Missense_Mutation	SNP	C	C	T	rs367880375		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:230492717C>T	ENST00000525115.1	-	2	498	c.475G>A	c.(475-477)Ggg>Agg	p.G159R	PGBD5_ENST00000391860.1_Missense_Mutation_p.G113R|PGBD5_ENST00000321327.2_Missense_Mutation_p.G258R			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	159						integral component of membrane (GO:0016021)		p.G258W(1)|p.G258R(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TTGTAGAGCCCGTGCGTGGTC	0.627																																					p.G159R												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.G475A	1						.	C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	82.0	74.0	77.0		475	6.0	1.0	1		77	0,8600		0,0,4300	no	missense	PGBD5	NM_024554.3	125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	159/456	230492717	1,13005	2203	4300	6503	228559340	SO:0001583	missense	79605	exon2			AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.475G>A	1.37:g.230492717C>T	ENSP00000431404:p.Gly159Arg		228559340	NM_024554	A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	ENST00000525115.1	37		.	.	.	.	.	.	.	.	.	.	C	23.2	4.384809	0.82792	2.27E-4	0.0	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.16073	2.37;2.37;2.37	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.24431	0.0592	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.02444	-1.1158	10	0.09084	T	0.74	-48.4689	15.6094	0.76704	0.0:0.933:0.0:0.067	.	159	Q8N414	PGBD5_HUMAN	R	113;258;159	ENSP00000375733:G113R;ENSP00000322530:G258R;ENSP00000431404:G159R	ENSP00000322530:G258R	G	-	1	0	PGBD5	228559340	1.000000	0.71417	0.966000	0.40874	0.803000	0.45373	6.080000	0.71299	2.861000	0.98227	0.655000	0.94253	GGG		0.627	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	NM_024554	
EPHB2	2048	hgsc.bcm.edu	37	1	23232532	23232532	+	Silent	SNP	C	C	T	rs137975389		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:23232532C>T	ENST00000400191.3	+	10	1836	c.1818C>T	c.(1816-1818)aaC>aaT	p.N606N	EPHB2_ENST00000374630.3_Silent_p.N606N|EPHB2_ENST00000374627.1_Silent_p.N601N|EPHB2_ENST00000374632.3_Silent_p.N607N	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	606					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.N606N(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)		AGGACCCCAACGAGGCAGTGC	0.517																																					p.N606N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1818T	1						.	T	,	3,4403	6.2+/-15.9	0,3,2200	101.0	91.0	95.0		1821,1818	-5.1	0.8	1	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	EPHB2	NM_004442.6,NM_017449.3	,	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	,	607/988,606/987	23232532	4,13002	2203	4300	6503	23105119	SO:0001819	synonymous_variant	2048	exon10			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.1818C>T	1.37:g.23232532C>T			23105119	NM_017449	O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37																																																																																					0.517	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449	
COG2	22796	hgsc.bcm.edu	37	1	230805278	230805278	+	Silent	SNP	C	C	T	rs147592540		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:230805278C>T	ENST00000366669.4	+	7	886	c.771C>T	c.(769-771)gaC>gaT	p.D257D	COG2_ENST00000534989.1_Silent_p.D198D|COG2_ENST00000366668.3_Silent_p.D257D|COG2_ENST00000535166.1_Silent_p.D141D	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	257					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)	p.D257D(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CATACATAGACGAGGTCTGTG	0.463																																					p.D257D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C771T	1						.	C	,	1,4405	2.1+/-5.4	0,1,2202	72.0	58.0	63.0		771,771	-6.1	0.1	1	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	COG2	NM_001145036.1,NM_007357.2	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	257/738,257/739	230805278	2,13004	2203	4300	6503	228871901	SO:0001819	synonymous_variant	22796	exon7			Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.771C>T	1.37:g.230805278C>T			228871901	NM_007357	Q86U99	Silent	SNP	ENST00000366669.4	37	CCDS1584.1																																																																																				0.463	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357	
HEATR1	55127	hgsc.bcm.edu	37	1	236730071	236730071	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:236730071G>A	ENST00000366582.3	-	30	4297	c.4183C>T	c.(4183-4185)Cgc>Tgc	p.R1395C	HEATR1_ENST00000366581.2_Missense_Mutation_p.R1314C	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1395					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.R1395C(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATGGGCAGGCGCCTGTGCTCC	0.433																																					p.R1395C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4183T	1						.						69.0	71.0	70.0					1																	236730071		2203	4300	6503	234796694	SO:0001583	missense	55127	exon30			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.4183C>T	1.37:g.236730071G>A	ENSP00000355541:p.Arg1395Cys		234796694	NM_018072	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	33	5.200912	0.94997	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.64260	-0.09;1.37	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.82019	0.4946	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.84119	0.0405	10	0.87932	D	0	.	19.6128	0.95616	0.0:0.0:1.0:0.0	.	1314;1395	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	C	1395;1314	ENSP00000355541:R1395C;ENSP00000355540:R1314C	ENSP00000355540:R1314C	R	-	1	0	HEATR1	234796694	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.434000	0.97515	2.635000	0.89317	0.655000	0.94253	CGC		0.433	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853	
FH	2271	hgsc.bcm.edu	37	1	241680542	241680542	+	Silent	SNP	G	G	A	rs370392829		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:241680542G>A	ENST00000366560.3	-	2	245	c.207C>T	c.(205-207)ggC>ggT	p.G69G	FH_ENST00000493477.1_5'UTR	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	69					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)	p.G69G(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		CGGTCTGGGCGCCATAATACT	0.403			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												p.G69G	Melanoma(148;1573 2486 7381 46575)	yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	fumarate hydratase		"""E, M"""	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C207T	1						.	G		0,4406		0,0,2203	137.0	123.0	128.0		207	-8.9	0.8	1		128	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FH	NM_000143.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		69/511	241680542	1,13005	2203	4300	6503	239747165	SO:0001819	synonymous_variant	2271	exon2	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.207C>T	1.37:g.241680542G>A			239747165	NM_000143	B1ANK7	Silent	SNP	ENST00000366560.3	37	CCDS1617.1																																																																																				0.403	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143	
PLD5	200150	hgsc.bcm.edu	37	1	242253203	242253203	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:242253203T>C	ENST00000536534.2	-	10	1805	c.1564A>G	c.(1564-1566)Aaa>Gaa	p.K522E	PLD5_ENST00000427495.1_Missense_Mutation_p.K460E|PLD5_ENST00000442594.2_Missense_Mutation_p.K430E			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	522						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.K430E(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GTGGCAGTTTTGTTGGAGAGG	0.453																																					p.K460E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1378G	1						.						232.0	224.0	227.0					1																	242253203		2203	4300	6503	240319826	SO:0001583	missense	200150	exon10			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1564A>G	1.37:g.242253203T>C	ENSP00000440896:p.Lys522Glu		240319826	NM_001195811	A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	T	8.788	0.929774	0.18131	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.45668	0.9;0.89;0.89	5.24	4.1	0.47936	.	0.165608	0.42420	D	0.000701	T	0.49830	0.1580	L	0.40543	1.245	0.32420	N	0.549423	B;D;B	0.63880	0.031;0.993;0.031	B;D;B	0.70935	0.051;0.971;0.051	T	0.55140	-0.8187	10	0.22706	T	0.39	-19.4188	10.6008	0.45365	0.0:0.0:0.1682:0.8318	.	430;522;460	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	E	460;430;522	ENSP00000401285:K460E;ENSP00000414188:K430E;ENSP00000440896:K522E	ENSP00000401285:K460E	K	-	1	0	PLD5	240319826	1.000000	0.71417	0.990000	0.47175	0.142000	0.21351	1.795000	0.38784	0.992000	0.38840	0.533000	0.62120	AAA		0.453	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666	
IFNLR1	163702	hgsc.bcm.edu	37	1	24483692	24483692	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:24483692G>A	ENST00000327535.1	-	7	1503	c.1491C>T	c.(1489-1491)ggC>ggT	p.G497G	IFNLR1_ENST00000374421.3_Silent_p.G468G|IFNLR1_ENST00000327575.2_3'UTR	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	497					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)		p.G497G(1)									CCCCCCAGCTGCCCGCATCGC	0.612																																					p.G497G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1491T	1						.						52.0	54.0	53.0					1																	24483692		2203	4300	6503	24356279	SO:0001819	synonymous_variant	163702	exon7			AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"""Interferons"""	18584	protein-coding gene	gene with protein product	"""interferon lambda receptor 1"""	607404	"""interleukin 28 receptor, alpha"", ""interleukin 28 receptor, alpha (interferon, lambda receptor)"""	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.1491C>T	1.37:g.24483692G>A			24356279	NM_170743	Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Silent	SNP	ENST00000327535.1	37	CCDS248.1																																																																																				0.612	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1	NM_170743	
SDCCAG8	10806	hgsc.bcm.edu	37	1	243437880	243437880	+	Silent	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:243437880T>C	ENST00000366541.3	+	4	460	c.342T>C	c.(340-342)acT>acC	p.T114T	SDCCAG8_ENST00000391846.1_Silent_p.T114T|SDCCAG8_ENST00000343783.6_Intron|SDCCAG8_ENST00000355875.4_Silent_p.T114T	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	114					establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)		p.T114T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		ATATGCCTACTATGCACGACC	0.289																																					p.T114T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T342C	1						.						92.0	90.0	90.0					1																	243437880		2203	4298	6501	241504503	SO:0001819	synonymous_variant	10806	exon4			AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.342T>C	1.37:g.243437880T>C			241504503	NM_006642	O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Silent	SNP	ENST00000366541.3	37	CCDS31075.1																																																																																				0.289	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642	
NLRP3	114548	hgsc.bcm.edu	37	1	247588321	247588321	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:247588321C>A	ENST00000336119.3	+	3	2322	c.1576C>A	c.(1576-1578)Cag>Aag	p.Q526K	NLRP3_ENST00000366497.2_Missense_Mutation_p.Q526K|NLRP3_ENST00000366496.2_Missense_Mutation_p.Q526K|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.Q526K|NLRP3_ENST00000391827.2_Missense_Mutation_p.Q526K|NLRP3_ENST00000391828.3_Missense_Mutation_p.Q526K	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	526	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.Q526K(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CATGACTTTCCAGGAGTTCTT	0.517																																					p.Q526K												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C1576A	1						.						66.0	60.0	62.0					1																	247588321		2203	4300	6503	245654944	SO:0001583	missense	114548	exon3			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1576C>A	1.37:g.247588321C>A	ENSP00000337383:p.Gln526Lys		245654944	NM_004895	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364473	0.82463	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	4.17	4.17	0.49024	NACHT nucleoside triphosphatase (1);	0.000000	0.50627	D	0.000118	D	0.95686	0.8597	H	0.95574	3.69	0.47245	D	0.999362	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;0.999;1.0	D	0.96047	0.9028	10	0.87932	D	0	.	12.2773	0.54744	0.0:1.0:0.0:0.0	.	526;526;526;526;526	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	K	526	ENSP00000375704:Q526K;ENSP00000355453:Q526K;ENSP00000337383:Q526K;ENSP00000294752:Q526K;ENSP00000355452:Q526K;ENSP00000375703:Q526K	ENSP00000337383:Q526K	Q	+	1	0	NLRP3	245654944	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.757000	0.74924	2.612000	0.88384	0.655000	0.94253	CAG		0.517	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895	
TRIM58	25893	hgsc.bcm.edu	37	1	248039238	248039238	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:248039238G>A	ENST00000366481.3	+	6	956	c.908G>A	c.(907-909)aGt>aAt	p.S303N	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	303	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S303N(1)|p.S303I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCGCACCCGAGTCTGCTCTTG	0.562																																					p.S303N												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G908A	1						.						72.0	69.0	70.0					1																	248039238		2203	4300	6503	246105861	SO:0001583	missense	25893	exon6			AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.908G>A	1.37:g.248039238G>A	ENSP00000355437:p.Ser303Asn		246105861	NM_015431	Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	G	2.519	-0.311258	0.05422	.	.	ENSG00000162722	ENST00000366481	T	0.04706	3.57	3.95	2.02	0.26589	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.367653	0.26895	N	0.021946	T	0.02533	0.0077	N	0.13098	0.295	0.19300	N	0.999977	B	0.18013	0.025	B	0.24701	0.055	T	0.44205	-0.9343	10	0.22706	T	0.39	.	2.6836	0.05101	0.1014:0.1888:0.5143:0.1954	.	303	Q8NG06	TRI58_HUMAN	N	303	ENSP00000355437:S303N	ENSP00000355437:S303N	S	+	2	0	TRIM58	246105861	0.000000	0.05858	0.362000	0.25862	0.004000	0.04260	0.776000	0.26704	0.610000	0.30035	-0.175000	0.13238	AGT		0.562	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431	
ZNF692	55657	hgsc.bcm.edu	37	1	249144939	249144939	+	Missense_Mutation	SNP	G	G	A	rs549570404		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:249144939G>A	ENST00000306601.4	-	11	1361	c.1195C>T	c.(1195-1197)Cgc>Tgc	p.R399C	ZNF692_ENST00000427146.1_Missense_Mutation_p.R354C|ZNF692_ENST00000451251.1_Missense_Mutation_p.R404C|ZNF692_ENST00000366471.3_Missense_Mutation_p.R354C|ZNF692_ENST00000366469.5_Missense_Mutation_p.R398C	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	399					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.R399C(1)		endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CTGCTAGTGCGGAAAGACCGG	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		13092	0.001		0.0	False		,,,				2504	0.0				p.R354C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1060T	1						.						91.0	86.0	88.0					1																	249144939		2203	4300	6503	247111562	SO:0001583	missense	55657	exon10			BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"""Zinc fingers, C2H2-type"""	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.1195C>T	1.37:g.249144939G>A	ENSP00000305483:p.Arg399Cys		247111562	NM_001193328	B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Missense_Mutation	SNP	ENST00000306601.4	37	CCDS31127.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.42|18.42	3.620311|3.620311	0.66787|0.66787	.|.	.|.	ENSG00000171163|ENSG00000171163	ENST00000476503|ENST00000306601;ENST00000427146;ENST00000366470;ENST00000366471;ENST00000366469;ENST00000451251	.|T;T;T;T;T	.|0.07444	.|3.19;3.19;3.19;3.19;3.19	4.41|4.41	3.42|3.42	0.39159|0.39159	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.48767	.|D	.|0.000171	T|T	0.15869|0.15869	0.0382|0.0382	L|L	0.33245|0.33245	0.995|0.995	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	.|0.83275	.|0.996;0.995;0.995;0.996;0.948	T|T	0.00498|0.00498	-1.1704|-1.1704	5|10	.|0.59425	.|D	.|0.04	-23.5068|-23.5068	9.0991|9.0991	0.36658|0.36658	0.0:0.0:0.7816:0.2184|0.0:0.0:0.7816:0.2184	.|.	.|404;354;227;399;132	.|B4DXZ0;Q9BU19-2;Q9BU19-3;Q9BU19;Q59EV5	.|.;.;.;ZN692_HUMAN;.	L|C	152|399;354;227;354;398;404	.|ENSP00000305483:R399C;ENSP00000390044:R354C;ENSP00000355427:R354C;ENSP00000355425:R398C;ENSP00000391200:R404C	.|ENSP00000305483:R399C	P|R	-|-	2|1	0|0	ZNF692|ZNF692	247111562|247111562	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	1.151000|1.151000	0.31651|0.31651	2.460000|2.460000	0.83146|0.83146	0.313000|0.313000	0.20887|0.20887	CCG|CGC		0.612	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865	
SAMD11	148398	hgsc.bcm.edu	37	1	874456	874456	+	Missense_Mutation	SNP	G	G	C	rs149677938	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:874456G>C	ENST00000342066.3	+	6	550	c.467G>C	c.(466-468)cGt>cCt	p.R156P		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	156					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)		p.R156P(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CGCTCCCCCCGTATCAGCAGC	0.627																																					p.R156P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G467C	1						.						40.0	36.0	37.0					1																	874456		2201	4300	6501	864319	SO:0001583	missense	148398	exon6			BC024295	CCDS2.2	1p36.33	2013-01-10			ENSG00000187634	ENSG00000187634		"""Sterile alpha motif (SAM) domain containing"""	28706	protein-coding gene	gene with protein product						12477932	Standard	NM_152486		Approved	MGC45873	uc001abw.1	Q96NU1	OTTHUMG00000040719	ENST00000342066.3:c.467G>C	1.37:g.874456G>C	ENSP00000342313:p.Arg156Pro		864319	NM_152486	A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	Missense_Mutation	SNP	ENST00000342066.3	37	CCDS2.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.666|5.666	0.307576|0.307576	0.10733|0.10733	.|.	.|.	ENSG00000187634|ENSG00000187634	ENST00000420190;ENST00000342066|ENST00000341065	.|.	.|.	.|.	3.83|3.83	3.83|3.83	0.44106|0.44106	.|.	0.400178|.	0.22241|.	N|.	0.062699|.	T|T	0.15696|0.15696	0.0378|0.0378	N|N	0.03608|0.03608	-0.345|-0.345	0.21675|0.21675	N|N	0.999598|0.999598	B;B|.	0.10296|.	0.003;0.002|.	B;B|.	0.06405|.	0.002;0.001|.	T|T	0.24905|0.24905	-1.0147|-1.0147	9|5	0.35671|.	T|.	0.21|.	-11.9587|-11.9587	8.6578|8.6578	0.34073|0.34073	0.9028:0.0:0.0972:0.0|0.9028:0.0:0.0972:0.0	.|.	156;156|.	Q96NU1-1;Q96NU1|.	.;SAM11_HUMAN|.	P|L	156|80	.|.	ENSP00000342313:R156P|.	R|V	+|+	2|1	0|0	SAMD11|SAMD11	864319|864319	0.002000|0.002000	0.14202|0.14202	0.958000|0.958000	0.39756|0.39756	0.153000|0.153000	0.21895|0.21895	1.178000|1.178000	0.31981|0.31981	0.610000|0.610000	0.30035|0.30035	-0.490000|-0.490000	0.04691|0.04691	CGT|GTA		0.627	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2	NM_152486	
MMEL1	79258	hgsc.bcm.edu	37	1	2541181	2541181	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:2541181C>T	ENST00000378412.3	-	5	543	c.382G>A	c.(382-384)Gtg>Atg	p.V128M	MMEL1_ENST00000288709.6_Missense_Mutation_p.V119M|MMEL1_ENST00000502556.1_Missense_Mutation_p.V128M			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	128						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V119M(1)		cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TCAGGGATCACGTGGCGCCGC	0.617																																					p.V128M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G382A	1						.						100.0	79.0	86.0					1																	2541181		2203	4300	6503	2531041	SO:0001583	missense	79258	exon5			AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.382G>A	1.37:g.2541181C>T	ENSP00000367668:p.Val128Met		2531041	NM_033467	B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	c	25.1	4.606895	0.87157	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	T;T;T	0.74209	-0.82;-0.82;-0.82	5.29	4.37	0.52481	Peptidase M13 (1);	0.056484	0.64402	D	0.000001	D	0.86192	0.5874	M	0.86178	2.8	0.58432	D	0.999994	D	0.89917	1.0	D	0.77004	0.989	D	0.86859	0.2028	10	0.48119	T	0.1	-36.7733	12.8569	0.57890	0.0:0.9205:0.0:0.0795	.	128	Q495T6	MMEL1_HUMAN	M	128;119;128;128	ENSP00000288709:V119M;ENSP00000367668:V128M;ENSP00000422492:V128M	ENSP00000288709:V119M	V	-	1	0	MMEL1	2531041	0.995000	0.38212	1.000000	0.80357	0.946000	0.59487	3.231000	0.51294	1.199000	0.43173	0.555000	0.69702	GTG		0.617	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467	
CHD5	26038	hgsc.bcm.edu	37	1	6209431	6209431	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:6209431A>G	ENST00000262450.3	-	8	1135	c.1036T>C	c.(1036-1038)Tgt>Cgt	p.C346R	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.C346R(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CACACCTCACAGTAATCCTGG	0.582																																					p.C346R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1036C	1						.						128.0	91.0	103.0					1																	6209431		2203	4300	6503	6132018	SO:0001583	missense	26038	exon8			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.1036T>C	1.37:g.6209431A>G	ENSP00000262450:p.Cys346Arg		6132018	NM_015557	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.084629	0.76642	.	.	ENSG00000116254	ENST00000262450	D	0.99252	-5.63	4.03	4.03	0.46877	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	U	0.000000	D	0.99582	0.9849	H	0.99299	4.505	0.80722	D	1	D	0.59767	0.986	P	0.57679	0.825	D	0.97777	1.0230	10	0.87932	D	0	-10.5036	13.2723	0.60167	1.0:0.0:0.0:0.0	.	346	Q8TDI0	CHD5_HUMAN	R	346	ENSP00000262450:C346R	ENSP00000262450:C346R	C	-	1	0	CHD5	6132018	1.000000	0.71417	0.995000	0.50966	0.966000	0.64601	8.998000	0.93550	1.623000	0.50342	0.260000	0.18958	TGT		0.582	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	
ERRFI1	54206	hgsc.bcm.edu	37	1	8073398	8073398	+	Missense_Mutation	SNP	C	C	T	rs201286989		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:8073398C>T	ENST00000377482.5	-	4	1484	c.1261G>A	c.(1261-1263)Gcc>Acc	p.A421T	ERRFI1_ENST00000474874.1_Intron	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	421					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)	p.A421T(2)		breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TGGATTTGGGCGCCTCCATTT	0.433																																					p.A421T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1261A	1						.	C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	140.0	132.0	135.0		1261	-6.7	0.0	1		135	0,8600		0,0,4300	yes	missense	ERRFI1	NM_018948.3	58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	421/463	8073398	2,13004	2203	4300	6503	7995985	SO:0001583	missense	54206	exon4			BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.1261G>A	1.37:g.8073398C>T	ENSP00000366702:p.Ala421Thr		7995985	NM_018948	B2RDX9|Q9NTG9|Q9UD05	Missense_Mutation	SNP	ENST00000377482.5	37	CCDS94.1	.	.	.	.	.	.	.	.	.	.	C	3.759	-0.049939	0.07407	4.54E-4	0.0	ENSG00000116285	ENST00000377482	T	0.17213	2.29	5.79	-6.66	0.01789	.	0.813256	0.11098	N	0.600036	T	0.03220	0.0094	N	0.01109	-1.01	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.41822	-0.9487	10	0.02654	T	1	-2.8828	8.1764	0.31285	0.0:0.4265:0.2935:0.28	.	421	Q9UJM3	ERRFI_HUMAN	T	421	ENSP00000366702:A421T	ENSP00000366702:A421T	A	-	1	0	ERRFI1	7995985	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-1.852000	0.01667	-0.791000	0.04486	-0.894000	0.02916	GCC		0.433	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948	
DFFA	1676	hgsc.bcm.edu	37	1	10523596	10523597	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	GT	GT	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:10523596_10523597delGT	ENST00000377038.3	-	4	589_590	c.522_523delAC	c.(520-525)acactcfs	p.L175fs	DFFA_ENST00000377036.2_Frame_Shift_Del_p.L175fs	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	175					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.L175fs*5(2)		large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		ACCTGTTGGAGTGTGTGCTGCA	0.55																																					p.174_175del												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.522_523del	1						.																																			10446184	SO:0001589	frameshift_variant	1676	exon4			AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"""DNA fragmentation factor, 45 kD, alpha subunit"""	601882	"""DNA fragmentation factor, 45 kD, alpha polypeptide"""			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.522_523delAC	1.37:g.10523600_10523601delGT	ENSP00000366237:p.Leu175fs		10446183	NM_004401	Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Frame_Shift_Del	DEL	ENST00000377038.3	37	CCDS118.1																																																																																				0.550	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005418.1	NM_004401	
SRRM1	10250	hgsc.bcm.edu	37	1	24975465	24975465	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:24975465C>T	ENST00000323848.9	+	4	665	c.350C>T	c.(349-351)gCg>gTg	p.A117V	SRRM1_ENST00000374389.4_Missense_Mutation_p.A117V|SRRM1_ENST00000537199.1_Missense_Mutation_p.A16V|SRRM1_ENST00000447431.2_Missense_Mutation_p.A117V|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	117	Necessary for DNA and RNA-binding.|Necessary for mRNA 3'-end cleavage and cytoplasmic accumulation.|PWI. {ECO:0000255|PROSITE- ProRule:PRU00627}.				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)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.A117V(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GAAAACATCGCGGGAATCCCT	0.393																																					p.A117V	Ovarian(68;897 1494 3282 17478)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C350T	1						.						124.0	134.0	131.0					1																	24975465		2203	4300	6503	24848052	SO:0001583	missense	10250	exon4			AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.350C>T	1.37:g.24975465C>T	ENSP00000326261:p.Ala117Val		24848052	NM_005839	O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	CCDS255.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375104	0.82682	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389;ENST00000537199	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.68	5.68	0.88126	Splicing factor PWI (3);	0.000000	0.56097	D	0.000027	T	0.33556	0.0867	L	0.31926	0.97	0.80722	D	1	P;P	0.41978	0.724;0.767	B;B	0.31390	0.079;0.129	T	0.30504	-0.9976	10	0.72032	D	0.01	-2.7035	20.1554	0.98111	0.0:1.0:0.0:0.0	.	117;117	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	V	117;117;117;16	ENSP00000326261:A117V;ENSP00000391430:A117V;ENSP00000363510:A117V;ENSP00000441776:A16V	ENSP00000326261:A117V	A	+	2	0	SRRM1	24848052	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.558000	0.82253	2.838000	0.97847	0.591000	0.81541	GCG		0.393	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839	
ARID1A	8289	hgsc.bcm.edu	37	1	27092744	27092744	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:27092744G>A	ENST00000324856.7	+	9	3136	c.2765G>A	c.(2764-2766)gGc>gAc	p.G922D	ARID1A_ENST00000374152.2_Missense_Mutation_p.G539D|ARID1A_ENST00000457599.2_Missense_Mutation_p.G922D|RN7SL501P_ENST00000578818.1_RNA	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	922					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.G922D(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AATCAAGGGGGCATGATGGGA	0.498			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																p.G922D			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2765A	1						.						93.0	91.0	92.0					1																	27092744		2203	4300	6503	26965331	SO:0001583	missense	8289	exon9			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2765G>A	1.37:g.27092744G>A	ENSP00000320485:p.Gly922Asp		26965331	NM_006015	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	CCDS285.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220163	0.79464	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.03004	4.29;4.08;4.13	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.19525	0.0469	M	0.66939	2.045	0.80722	D	1	D;P;P	0.89917	1.0;0.934;0.531	D;B;B	0.91635	0.999;0.43;0.248	T	0.00001	-1.2703	10	0.72032	D	0.01	-6.1462	20.8794	0.99867	0.0:0.0:1.0:0.0	.	922;922;576	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	D	922;922;539	ENSP00000320485:G922D;ENSP00000387636:G922D;ENSP00000363267:G539D	ENSP00000320485:G922D	G	+	2	0	ARID1A	26965331	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.227000	0.72282	2.941000	0.99782	0.655000	0.94253	GGC		0.498	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	
NR0B2	8431	hgsc.bcm.edu	37	1	27238447	27238447	+	Silent	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:27238447G>T	ENST00000254227.3	-	2	688	c.663C>A	c.(661-663)gcC>gcA	p.A221A		NM_021969.2	NP_068804.1	Q15466	NR0B2_HUMAN	nuclear receptor subfamily 0, group B, member 2	221	Ligand-binding. {ECO:0000250}.				cholesterol metabolic process (GO:0008203)|gene expression (GO:0010467)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)	p.A221A(1)		NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TGAGGGTGGAGGCCGTGAGGA	0.607																																					p.A221A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C663A	1						.						142.0	141.0	141.0					1																	27238447		2203	4300	6503	27111034	SO:0001819	synonymous_variant	8431	exon2			AF044316	CCDS291.1	1p36.1	2013-01-16			ENSG00000131910	ENSG00000131910		"""Nuclear hormone receptors"""	7961	protein-coding gene	gene with protein product		604630				9603951	Standard	NM_021969		Approved	SHP	uc001bnf.3	Q15466	OTTHUMG00000004231	ENST00000254227.3:c.663C>A	1.37:g.27238447G>T			27111034	NM_021969	F1D8P5|Q5QP36	Silent	SNP	ENST00000254227.3	37	CCDS291.1																																																																																				0.607	NR0B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012185.1		
MAP3K6	9064	hgsc.bcm.edu	37	1	27686816	27686816	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:27686816G>T	ENST00000493901.1	-	17	2337	c.2098C>A	c.(2098-2100)Ctg>Atg	p.L700M	MAP3K6_ENST00000374040.3_Missense_Mutation_p.L692M|MAP3K6_ENST00000357582.2_Missense_Mutation_p.L700M	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	700	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)	p.L692M(1)		breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTGTGGCGCAGGCGTCTGTGA	0.597																																					p.L700M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2098A	1						.						80.0	78.0	79.0					1																	27686816		2203	4300	6503	27559403	SO:0001583	missense	9064	exon16			AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.2098C>A	1.37:g.27686816G>T	ENSP00000419591:p.Leu700Met		27559403	NM_004672	A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	ENST00000493901.1	37	CCDS299.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955132	0.73902	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000545447;ENST00000357582	T;T;T	0.35236	1.32;1.32;1.32	5.06	4.07	0.47477	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.62183	0.2407	M	0.84511	2.7	0.48632	D	0.999684	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.67522	-0.5649	9	0.87932	D	0	.	12.5809	0.56390	0.0945:0.0:0.9055:0.0	.	692;700	O95382-3;O95382	.;M3K6_HUMAN	M	692;700;423;700	ENSP00000363152:L692M;ENSP00000419591:L700M;ENSP00000350195:L700M	ENSP00000350195:L700M	L	-	1	2	MAP3K6	27559403	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.217000	0.58547	2.636000	0.89361	0.561000	0.74099	CTG		0.597	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672	
SNRNP40	9410	hgsc.bcm.edu	37	1	31762251	31762251	+	Silent	SNP	T	T	C	rs549091088		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:31762251T>C	ENST00000263694.4	-	4	399	c.381A>G	c.(379-381)gcA>gcG	p.A127A	SNRNP40_ENST00000446633.2_Silent_p.A127A	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	127					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)	p.A127A(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						TATCTGTGGATGCTGAGAAAA	0.378													T|||	1	0.000199681	0.0	0.0014	5008	,	,		21188	0.0		0.0	False		,,,				2504	0.0				p.A127A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A381G	1						.						135.0	137.0	136.0					1																	31762251		2203	4300	6503	31534838	SO:0001819	synonymous_variant	9410	exon4			AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"""WD repeat domain containing"""	30857	protein-coding gene	gene with protein product		607797	"""WD repeat domain 57 (U5 snRNP specific)"""	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.381A>G	1.37:g.31762251T>C			31534838	NM_004814	B4DQJ1|O75938|O95320	Silent	SNP	ENST00000263694.4	37	CCDS340.1																																																																																				0.378	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010657.1	NM_004814	
GJB3	2707	hgsc.bcm.edu	37	1	35251148	35251148	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:35251148C>T	ENST00000373366.2	+	2	1400	c.785C>T	c.(784-786)gCt>gTt	p.A262V	GJB3_ENST00000373362.3_Missense_Mutation_p.A262V|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	262					cell communication (GO:0007154)|in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|sensory perception of sound (GO:0007605)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	connexon complex (GO:0005922)|cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)	p.A262V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AAGCTGCAGGCTTCAGCACCC	0.657																																					p.A262V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C785T	1						.						43.0	42.0	42.0					1																	35251148		2203	4300	6503	35023735	SO:0001583	missense	2707	exon2			BC012918	CCDS384.1	1p34	2008-05-14	2007-01-16		ENSG00000188910	ENSG00000188910		"""Ion channels / Gap junction proteins (connexins)"""	4285	protein-coding gene	gene with protein product	"""connexin 31"""	603324	"""gap junction protein, beta 3, 31kD (connexin 31)"", ""gap junction protein, beta 3, 31kDa (connexin 31)"", ""erythrokeratodermia variabilis"""	DFNA2, EKV		9843210, 9704026	Standard	NM_024009		Approved	CX31	uc001bxy.3	O75712	OTTHUMG00000004051	ENST00000373366.2:c.785C>T	1.37:g.35251148C>T	ENSP00000362464:p.Ala262Val		35023735	NM_024009	B2R790|Q2TAZ8	Missense_Mutation	SNP	ENST00000373366.2	37	CCDS384.1	.	.	.	.	.	.	.	.	.	.	C	36	5.638794	0.96693	.	.	ENSG00000188910	ENST00000373366;ENST00000373362;ENST00000543647	D;D	0.98028	-4.67;-4.67	5.34	5.34	0.76211	.	0.410613	0.23219	N	0.050600	D	0.97414	0.9154	L	0.34521	1.04	0.53688	D	0.999975	D	0.71674	0.998	P	0.59761	0.863	D	0.97737	1.0206	10	0.49607	T	0.09	.	19.3973	0.94612	0.0:1.0:0.0:0.0	.	262	O75712	CXB3_HUMAN	V	262;262;246	ENSP00000362464:A262V;ENSP00000362460:A262V	ENSP00000362460:A262V	A	+	2	0	GJB3	35023735	1.000000	0.71417	0.374000	0.26016	0.261000	0.26267	4.363000	0.59473	2.660000	0.90430	0.655000	0.94253	GCT		0.657	GJB3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011559.1	NM_024009	
SFPQ	6421	hgsc.bcm.edu	37	1	35652842	35652843	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	TC	TC	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:35652842_35652843delTC	ENST00000357214.5	-	8	1923_1924	c.1825_1826delGA	c.(1825-1827)gacfs	p.D609fs		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	609					alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.D609fs*34(1)	SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CATTCGCATGTCTCTTTCCCGC	0.376			T	TFE3	papillary renal cell																																p.609_609del			Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1825_1826del	1						.																																			35425430	SO:0001589	frameshift_variant	6421	exon8			X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"""RNA binding motif (RRM) containing"""	10774	protein-coding gene	gene with protein product	"""polypyrimidine tract binding protein associated"", ""protein phosphatase 1, regulatory subunit 140"""	605199	"""splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"""			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.1825_1826delGA	1.37:g.35652844_35652845delTC	ENSP00000349748:p.Asp609fs		35425429	NM_005066	P30808|Q5SZ71	Frame_Shift_Del	DEL	ENST00000357214.5	37	CCDS388.1																																																																																				0.376	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4	NM_005066	
CSF3R	1441	hgsc.bcm.edu	37	1	36931734	36931734	+	3'UTR	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:36931734C>T	ENST00000373106.1	-	0	3282				MRPS15_ENST00000373116.5_5'Flank|CSF3R_ENST00000338937.5_3'UTR|CSF3R_ENST00000373104.1_Missense_Mutation_p.G772D|CSF3R_ENST00000373103.1_3'UTR|CSF3R_ENST00000418048.2_3'UTR|CSF3R_ENST00000361632.4_3'UTR|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000331941.5_Missense_Mutation_p.G772D	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)						cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.G772D(1)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GCACAAAAGGCCATTGGGTGG	0.468																																					p.G772D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2315A	1						.						94.0	98.0	97.0					1																	36931734		2203	4300	6503	36704321	SO:0001624	3_prime_UTR_variant	1441	exon18			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.*224G>A	1.37:g.36931734C>T			36704321	NM_172313		Missense_Mutation	SNP	ENST00000373106.1	37	CCDS413.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.667918	0.29604	.	.	ENSG00000119535	ENST00000373104;ENST00000331941	T;T	0.54071	0.59;0.59	3.58	2.67	0.31697	.	.	.	.	.	T	0.40791	0.1131	.	.	.	0.09310	N	0.999992	B	0.13594	0.008	B	0.12837	0.008	T	0.37865	-0.9687	8	0.87932	D	0	.	6.949	0.24534	0.0:0.8754:0.0:0.1246	.	772	Q99062-4	.	D	772	ENSP00000362196:G772D;ENSP00000332180:G772D	ENSP00000332180:G772D	G	-	2	0	CSF3R	36704321	0.003000	0.15002	0.065000	0.19835	0.103000	0.19146	0.058000	0.14301	1.080000	0.41073	0.650000	0.86243	GGC		0.468	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039	
CSF3R	1441	hgsc.bcm.edu	37	1	36933784	36933784	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:36933784C>A	ENST00000373106.1	-	13	2162	c.1615G>T	c.(1615-1617)Ggc>Tgc	p.G539C	CSF3R_ENST00000338937.5_Missense_Mutation_p.G539C|CSF3R_ENST00000373104.1_Missense_Mutation_p.G539C|CSF3R_ENST00000373103.1_Missense_Mutation_p.G539C|CSF3R_ENST00000418048.2_Missense_Mutation_p.G539C|CSF3R_ENST00000361632.4_Missense_Mutation_p.G539C|CSF3R_ENST00000440588.2_Missense_Mutation_p.G539C|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000331941.5_Missense_Mutation_p.G539C	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	539	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.G539C(2)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CAGGTCTTGCCAATGTGCTTT	0.617																																					p.G539C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1615T	1						.						49.0	50.0	50.0					1																	36933784		2203	4300	6503	36706371	SO:0001583	missense	1441	exon13			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1615G>T	1.37:g.36933784C>A	ENSP00000362198:p.Gly539Cys		36706371	NM_172313		Missense_Mutation	SNP	ENST00000373106.1	37	CCDS413.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.33|19.33	3.807420|3.807420	0.70797|0.70797	.|.	.|.	ENSG00000119535|ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588|ENST00000464465	T;T;T;T;T;T;T;T|.	0.59638|.	0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25|.	5.49|5.49	5.49|5.49	0.81192|0.81192	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.292540|.	0.41396|.	D|.	0.000888|.	T|T	0.63129|0.63129	0.2485|0.2485	M|M	0.69823|0.69823	2.125|2.125	0.33562|0.33562	D|D	0.597532|0.597532	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;0.999;1.0|.	D;D;D;D;D;D|.	0.76071|.	0.977;0.987;0.961;0.977;0.926;0.956|.	T|T	0.72766|0.72766	-0.4194|-0.4194	10|5	0.56958|.	D|.	0.05|.	-13.8566|-13.8566	11.9297|11.9297	0.52839|0.52839	0.0:0.9175:0.0:0.0825|0.0:0.9175:0.0:0.0825	.|.	539;539;539;539;539;539|.	Q1ZYL6;E1B6W6;Q99062-3;Q99062;Q99062-4;Q99062-2|.	.;.;.;CSF3R_HUMAN;.;.|.	C|F	539|90	ENSP00000362198:G539C;ENSP00000362196:G539C;ENSP00000362195:G539C;ENSP00000355406:G539C;ENSP00000332180:G539C;ENSP00000401588:G539C;ENSP00000345013:G539C;ENSP00000397568:G539C|.	ENSP00000332180:G539C|.	G|L	-|-	1|3	0|2	CSF3R|CSF3R	36706371|36706371	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	2.228000|2.228000	0.42981|0.42981	2.574000|2.574000	0.86865|0.86865	0.650000|0.650000	0.86243|0.86243	GGC|TTG		0.617	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039	
MACF1	23499	hgsc.bcm.edu	37	1	39799392	39799392	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:39799392A>G	ENST00000372915.3	+	36	7234	c.7147A>G	c.(7147-7149)Acc>Gcc	p.T2383A	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.T2378A|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.T2415A|MACF1_ENST00000289893.4_Missense_Mutation_p.T818A|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2383					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.T818A(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGACCCCCGTACCCAGACACT	0.438																																					p.T818A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2452G	1						.						78.0	77.0	77.0					1																	39799392		2203	4299	6502	39571979	SO:0001583	missense	23499	exon1			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.7147A>G	1.37:g.39799392A>G	ENSP00000362006:p.Thr2383Ala		39571979	NM_033044	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	A	1.532	-0.544091	0.04024	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.79033	-1.23;-1.23	5.6	3.23	0.37069	.	0.664941	0.14323	N	0.326917	T	0.72590	0.3479	M	0.62723	1.935	0.47698	D	0.999492	B	0.09022	0.002	B	0.04013	0.001	T	0.66188	-0.5986	10	0.62326	D	0.03	.	7.5001	0.27513	0.804:0.0:0.0689:0.1271	.	2383	Q9UPN3	MACF1_HUMAN	A	2383;818	ENSP00000362006:T2383A;ENSP00000289893:T818A	ENSP00000289893:T818A	T	+	1	0	MACF1	39571979	0.634000	0.27190	0.179000	0.23059	0.131000	0.20780	4.209000	0.58493	0.378000	0.24764	0.533000	0.62120	ACC		0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
KCNQ4	9132	hgsc.bcm.edu	37	1	41296971	41296971	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:41296971C>T	ENST00000347132.5	+	10	1590	c.1508C>T	c.(1507-1509)gCt>gTt	p.A503V	KCNQ4_ENST00000509682.2_Missense_Mutation_p.A449V|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	503					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.A503V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	CGCACCTCTGCTGAGGGTAAG	0.662																																					p.A503V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1508T	1						.						23.0	22.0	22.0					1																	41296971		2200	4296	6496	41069558	SO:0001583	missense	9132	exon10			AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.1508C>T	1.37:g.41296971C>T	ENSP00000262916:p.Ala503Val		41069558	NM_004700	O96025	Missense_Mutation	SNP	ENST00000347132.5	37	CCDS456.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326709	0.41197	.	.	ENSG00000117013	ENST00000347132;ENST00000509682	D;D	0.99660	-6.32;-6.32	4.86	4.86	0.63082	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.549634	0.19213	N	0.119872	D	0.98213	0.9409	L	0.33189	0.99	0.41689	D	0.989331	B;B	0.13594	0.001;0.008	B;B	0.14023	0.003;0.01	D	0.98404	1.0569	10	0.31617	T	0.26	-0.494	15.9101	0.79467	0.0:1.0:0.0:0.0	.	449;503	P56696-2;P56696	.;KCNQ4_HUMAN	V	503;449	ENSP00000262916:A503V;ENSP00000423756:A449V	ENSP00000262916:A503V	A	+	2	0	KCNQ4	41069558	0.101000	0.21875	0.903000	0.35520	0.916000	0.54674	1.417000	0.34770	2.421000	0.82119	0.543000	0.68304	GCT		0.662	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700	
ZNF691	51058	hgsc.bcm.edu	37	1	43316957	43316957	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:43316957A>G	ENST00000372506.1	+	4	668	c.328A>G	c.(328-330)Aag>Gag	p.K110E	ZNF691_ENST00000372507.1_Missense_Mutation_p.K110E|ZNF691_ENST00000397044.3_Missense_Mutation_p.K141E|ZNF691_ENST00000372504.1_Missense_Mutation_p.K132E|ZNF691_ENST00000372502.1_Missense_Mutation_p.K132E|ZNF691_ENST00000372508.3_Missense_Mutation_p.K110E	NM_001242739.1	NP_001229668.1	Q5VV52	ZN691_HUMAN	zinc finger protein 691	141						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K110E(1)		large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CACTGGTGAGAAGCCTTACAA	0.512																																					p.K110E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A328G	1						.						66.0	68.0	68.0					1																	43316957		2203	4300	6503	43089544	SO:0001583	missense	51058	exon2				CCDS476.1, CCDS55595.1	1p34.2	2013-01-08			ENSG00000164011	ENSG00000164011		"""Zinc fingers, C2H2-type"""	28028	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001242739		Approved	Zfp691	uc021omh.1	Q5VV52	OTTHUMG00000007623	ENST00000372506.1:c.328A>G	1.37:g.43316957A>G	ENSP00000361584:p.Lys110Glu		43089544	NM_015911	A8MXP6|B4DJR7|O95878|Q9NWE8	Missense_Mutation	SNP	ENST00000372506.1	37	CCDS476.1	.	.	.	.	.	.	.	.	.	.	A	16.01	3.001266	0.54254	.	.	ENSG00000164011	ENST00000372508;ENST00000372507;ENST00000372506;ENST00000397044;ENST00000372504;ENST00000372503;ENST00000372502	T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69	5.29	5.29	0.74685	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000017	T	0.42200	0.1192	M	0.83483	2.645	0.33676	D	0.611467	P;P	0.50066	0.931;0.931	P;P	0.48488	0.579;0.579	T	0.64871	-0.6305	10	0.87932	D	0	-32.1668	13.8252	0.63346	1.0:0.0:0.0:0.0	.	141;141	B4DJR7;Q5VV52	.;ZN691_HUMAN	E	110;110;110;141;132;141;132	ENSP00000361586:K110E;ENSP00000361585:K110E;ENSP00000361584:K110E;ENSP00000380237:K141E;ENSP00000361582:K132E;ENSP00000361580:K132E	ENSP00000361580:K132E	K	+	1	0	ZNF691	43089544	0.898000	0.30612	1.000000	0.80357	0.992000	0.81027	1.408000	0.34668	2.309000	0.77851	0.448000	0.29417	AAG		0.512	ZNF691-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020192.1	NM_015911	
HYI	81888	hgsc.bcm.edu	37	1	43914395	43914395	+	IGR	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:43914395A>G	ENST00000372425.4	-	0	1115				SZT2_ENST00000562955.1_Missense_Mutation_p.Y3304C|SZT2_ENST00000372442.1_Missense_Mutation_p.Y2462C|SZT2-AS1_ENST00000396885.2_RNA			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)								hydroxypyruvate isomerase activity (GO:0008903)	p.Y2462C(2)		large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGAACTCAGTACCTGGTAAGT	0.532																																					p.Y2462C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A7385G	1						.						154.0	163.0	160.0					1																	43914395		2203	4300	6503	43686982	SO:0001628	intergenic_variant	23334	exon55				CCDS488.1, CCDS488.2, CCDS53309.1, CCDS72771.1	1p34.2	2010-06-24	2010-06-24		ENSG00000178922	ENSG00000178922	5.3.1.22		26948	protein-coding gene	gene with protein product			"""hydroxypyruvate isomerase homolog (E. coli)"""			10561547	Standard	NM_031207		Approved	HT036	uc001cjo.3	Q5T013	OTTHUMG00000007502		1.37:g.43914395A>G			43686982	NM_015284	D3DPX4|D3DPX5|Q5Q9A2|Q7Z778|Q96S83|Q9BZR3|Q9BZR4	Missense_Mutation	SNP	ENST00000372425.4	37	CCDS53309.1	.	.	.	.	.	.	.	.	.	.	A	16.58	3.163799	0.57476	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.70928	0.3280	L	0.46157	1.445	0.38710	D	0.9532	D;D	0.89917	0.999;1.0	D;D	0.91635	0.992;0.999	T	0.75425	-0.3322	9	0.72032	D	0.01	.	16.0019	0.80301	1.0:0.0:0.0:0.0	.	3361;3304	Q5T011;Q5T011-5	SZT2_HUMAN;.	C	2462	.	ENSP00000361519:Y2462C	Y	+	2	0	SZT2	43686982	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.150000	0.94667	2.177000	0.69029	0.482000	0.46254	TAC		0.532	HYI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031207	
SLC6A9	6536	hgsc.bcm.edu	37	1	44474227	44474227	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:44474227C>T	ENST00000360584.2	-	5	798	c.607G>A	c.(607-609)Gcc>Acc	p.A203T	SLC6A9_ENST00000372307.3_Missense_Mutation_p.A65T|SLC6A9_ENST00000475075.2_Missense_Mutation_p.A19T|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000537678.1_Missense_Mutation_p.A65T|SLC6A9_ENST00000357730.2_Missense_Mutation_p.A149T|SLC6A9_ENST00000372310.3_Missense_Mutation_p.A130T|SLC6A9_ENST00000372306.3_Missense_Mutation_p.A130T	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	203					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.A130T(1)|p.A203T(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)	TAGTAGAAGGCGATGCAGATG	0.587																																					p.A203T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G607A	1						.						112.0	85.0	94.0					1																	44474227		2203	4300	6503	44246814	SO:0001583	missense	6536	exon5			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.607G>A	1.37:g.44474227C>T	ENSP00000353791:p.Ala203Thr		44246814	NM_201649	A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	ENST00000360584.2	37	CCDS41317.1	.	.	.	.	.	.	.	.	.	.	C	2.013	-0.426700	0.04701	.	.	ENSG00000196517	ENST00000372307;ENST00000372306;ENST00000372310;ENST00000475075;ENST00000360584;ENST00000357730;ENST00000537678	T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.73	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.77061	0.4075	N	0.17594	0.5	0.80722	D	1	D;B;B;P;P;D	0.89917	1.0;0.332;0.332;0.472;0.472;1.0	D;B;B;B;B;D	0.91635	0.999;0.091;0.131;0.08;0.08;0.999	T	0.71738	-0.4502	10	0.07482	T	0.82	.	16.1499	0.81605	0.1347:0.8653:0.0:0.0	.	134;130;65;130;149;203	B7Z3W8;B7Z8W5;B7Z3A9;P48067-2;P48067-3;P48067	.;.;.;.;.;SC6A9_HUMAN	T	65;130;130;19;203;149;65	ENSP00000361381:A65T;ENSP00000361380:A130T;ENSP00000361384:A130T;ENSP00000434460:A19T;ENSP00000353791:A203T;ENSP00000350362:A149T;ENSP00000442523:A65T	ENSP00000350362:A149T	A	-	1	0	SLC6A9	44246814	1.000000	0.71417	1.000000	0.80357	0.021000	0.10359	4.797000	0.62503	1.423000	0.47198	-0.187000	0.12897	GCC		0.587	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649	
GPBP1L1	60313	hgsc.bcm.edu	37	1	46099214	46099214	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:46099214C>T	ENST00000290795.3	-	9	2212	c.991G>A	c.(991-993)Gat>Aat	p.D331N	GPBP1L1_ENST00000479235.1_5'UTR|GPBP1L1_ENST00000355105.3_Missense_Mutation_p.D331N			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	331					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D331N(1)	GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					TTCCGGTCATCCTTCAGAGTT	0.512																																					p.D331N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G991A	1						.						120.0	107.0	111.0					1																	46099214		2203	4300	6503	45871801	SO:0001583	missense	60313	exon10				CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.991G>A	1.37:g.46099214C>T	ENSP00000290795:p.Asp331Asn		45871801	NM_021639	D3DQ10|Q9H751	Missense_Mutation	SNP	ENST00000290795.3	37	CCDS528.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230724	0.79688	.	.	ENSG00000159592	ENST00000290795;ENST00000355105	T;T	0.25250	1.81;1.81	5.96	5.96	0.96718	.	0.045033	0.85682	D	0.000000	T	0.30603	0.0770	L	0.59436	1.845	0.58432	D	0.999997	B	0.23377	0.084	B	0.23419	0.046	T	0.06445	-1.0826	10	0.20046	T	0.44	-34.5456	20.422	0.99049	0.0:1.0:0.0:0.0	.	331	Q9HC44	GPBL1_HUMAN	N	331	ENSP00000290795:D331N;ENSP00000347224:D331N	ENSP00000290795:D331N	D	-	1	0	GPBP1L1	45871801	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.084000	0.76866	2.832000	0.97577	0.655000	0.94253	GAT		0.512	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098375.1	NM_021639	
CYP4A11	1579	hgsc.bcm.edu	37	1	47406992	47406992	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:47406992G>A	ENST00000310638.4	-	1	145	c.114C>T	c.(112-114)taC>taT	p.Y38Y	CYP4A11_ENST00000371904.4_Silent_p.Y38Y|CYP4A11_ENST00000462347.1_Silent_p.Y38Y|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371905.1_Silent_p.Y38Y	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	38					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)	p.Y38Y(1)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	GCCTGTGCAGGTAGAGCTGAA	0.602																																					p.Y38Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C114T	1						.						93.0	86.0	89.0					1																	47406992		2203	4300	6503	47179579	SO:0001819	synonymous_variant	1579	exon1			L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.114C>T	1.37:g.47406992G>A			47179579	NM_000778	Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Silent	SNP	ENST00000310638.4	37	CCDS543.1																																																																																				0.602	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778	
CDKN2C	1031	hgsc.bcm.edu	37	1	51439702	51439702	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:51439702G>A	ENST00000262662.1	+	4	2301	c.267G>A	c.(265-267)ttG>ttA	p.L89L	CDKN2C_ENST00000371761.3_Silent_p.L89L|CDKN2C_ENST00000396148.1_Silent_p.L89L			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	89					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|oligodendrocyte differentiation (GO:0048709)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0?(11)|p.?(1)|p.L89L(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		TACAGACTTTGCTGGAGTTTC	0.507			D		"""glioma, MM"""																																p.L89L	Melanoma(47;50 1155 4767 22863 47597)		Rec	yes		1	1p32	1031	"""cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)"""		"""O, L"""	.	.	13	Whole gene deletion(11)|Substitution - coding silent(1)|Unknown(1)	central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(5)|thyroid(1)|large_intestine(1)	c.G267A	1						.						89.0	82.0	84.0					1																	51439702		2203	4300	6503	51212290	SO:0001819	synonymous_variant	1031	exon2			BC000598	CCDS555.1	1p32.3	2013-01-10			ENSG00000123080	ENSG00000123080		"""Ankyrin repeat domain containing"""	1789	protein-coding gene	gene with protein product		603369				8001816, 9636670	Standard	NM_001262		Approved	INK4C, p18	uc001csg.3	P42773	OTTHUMG00000008046	ENST00000262662.1:c.267G>A	1.37:g.51439702G>A			51212290	NM_078626	Q8TB83	Silent	SNP	ENST00000262662.1	37	CCDS555.1																																																																																				0.507	CDKN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022058.1	NM_001262	
NDC1	55706	hgsc.bcm.edu	37	1	54252924	54252924	+	Silent	SNP	C	C	T	rs530767688		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:54252924C>T	ENST00000371429.3	-	16	2305	c.1707G>A	c.(1705-1707)tcG>tcA	p.S569S	NDC1_ENST00000537333.1_Silent_p.S234S|NDC1_ENST00000540001.1_Missense_Mutation_p.A533T|NDC1_ENST00000234725.8_Silent_p.S454S	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	569					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.S569S(2)									CTACTAAGTGCGACAGACCTC	0.343																																					p.S569S												.	.	2	Substitution - coding silent(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.G1707A	1						.						131.0	133.0	132.0					1																	54252924		2203	4300	6503	54025512	SO:0001819	synonymous_variant	55706	exon16			AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"""nuclear division cycle 1 homolog (S. cerevisiae)"""	610115	"""transmembrane protein 48"""	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.1707G>A	1.37:g.54252924C>T			54025512	NM_018087	B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Silent	SNP	ENST00000371429.3	37	CCDS583.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025654	0.35701	.	.	ENSG00000058804	ENST00000540001	T	0.49432	0.78	4.33	0.597	0.17504	.	.	.	.	.	T	0.39226	0.1070	.	.	.	0.20873	N	0.999838	.	.	.	.	.	.	T	0.41592	-0.9500	6	0.87932	D	0	.	2.0633	0.03597	0.4465:0.3138:0.0984:0.1413	.	.	.	.	T	533	ENSP00000440873:A533T	ENSP00000440873:A533T	A	-	1	0	TMEM48	54025512	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.092000	0.30927	0.203000	0.20529	-0.467000	0.05162	GCA		0.343	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022101.1	NM_018087	
ACOT11	26027	hgsc.bcm.edu	37	1	55050400	55050400	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:55050400G>A	ENST00000371316.3	+	2	188	c.106G>A	c.(106-108)Gca>Aca	p.A36T	ACOT11_ENST00000343744.2_Missense_Mutation_p.A36T|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	36	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.A36T(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CAGTGCCATGGCAGACGGCGA	0.647																																					p.A36T	Ovarian(148;1440 1861 22015 32453 51933)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G106A	1						.						106.0	87.0	93.0					1																	55050400		2203	4300	6503	54822988	SO:0001583	missense	26027	exon2			AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	18156	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 14"""	606803	"""thioesterase, adipose associated"""	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.106G>A	1.37:g.55050400G>A	ENSP00000360366:p.Ala36Thr		54822988	NM_147161	B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP	ENST00000371316.3	37	CCDS592.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.763838	0.31228	.	.	ENSG00000162390	ENST00000343744;ENST00000371316	T;T	0.11385	2.84;2.78	4.87	3.96	0.45880	.	0.930221	0.09299	N	0.821258	T	0.10337	0.0253	L	0.36672	1.1	0.44603	D	0.997575	B;B	0.10296	0.003;0.0	B;B	0.09377	0.004;0.004	T	0.08310	-1.0728	10	0.28530	T	0.3	-19.3722	10.2886	0.43581	0.0768:0.1357:0.7874:0.0	.	36;36	Q8WXI4;Q8WXI4-2	ACO11_HUMAN;.	T	36	ENSP00000340260:A36T;ENSP00000360366:A36T	ENSP00000340260:A36T	A	+	1	0	ACOT11	54822988	0.996000	0.38824	0.905000	0.35620	0.096000	0.18686	2.662000	0.46766	1.369000	0.46134	-0.137000	0.14449	GCA		0.647	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1	NM_015547	
CACHD1	57685	hgsc.bcm.edu	37	1	65147750	65147750	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:65147750C>T	ENST00000371073.2	+	26	3547	c.3547C>T	c.(3547-3549)Cgc>Tgc	p.R1183C	CACHD1_ENST00000290039.5_Missense_Mutation_p.R1132C|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1183					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.R1132C(2)		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						AGAAAGAAGGCGCCGCTACTG	0.493																																					p.R1132C												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.C3394T	1						.						120.0	108.0	112.0					1																	65147750		2203	4300	6503	64920338	SO:0001583	missense	57685	exon26			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.3547C>T	1.37:g.65147750C>T	ENSP00000360113:p.Arg1183Cys		64920338	NM_020925	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37		.	.	.	.	.	.	.	.	.	.	C	33	5.222927	0.95139	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.28454	1.61;1.62	5.91	5.91	0.95273	.	0.049203	0.85682	D	0.000000	T	0.39091	0.1065	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.26430	-1.0103	10	0.72032	D	0.01	-18.8868	20.2985	0.98592	0.0:1.0:0.0:0.0	.	1183	Q5VU97	CAHD1_HUMAN	C	1183;1132	ENSP00000360113:R1183C;ENSP00000290039:R1132C	ENSP00000290039:R1132C	R	+	1	0	CACHD1	64920338	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	7.410000	0.80065	2.793000	0.96121	0.655000	0.94253	CGC		0.493	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925	
SLC35D1	23169	hgsc.bcm.edu	37	1	67515492	67515492	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:67515492A>G	ENST00000235345.5	-	6	591	c.506T>C	c.(505-507)aTg>aCg	p.M169T	SLC35D1_ENST00000506472.2_Missense_Mutation_p.M90T	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	169					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)	p.M169T(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						TCCAATAATCATTGCAAATAC	0.303																																					p.M169T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T506C	1						.						60.0	63.0	62.0					1																	67515492		2203	4299	6502	67288080	SO:0001583	missense	23169	exon6			AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"""Solute carriers"""	20800	protein-coding gene	gene with protein product		610804	"""solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"""			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.506T>C	1.37:g.67515492A>G	ENSP00000235345:p.Met169Thr		67288080	NM_015139	A8K185|B7Z3X2|Q52LU5|Q92548	Missense_Mutation	SNP	ENST00000235345.5	37	CCDS636.1	.	.	.	.	.	.	.	.	.	.	A	19.15	3.771805	0.69992	.	.	ENSG00000116704	ENST00000235345;ENST00000506472	T;T	0.66638	-0.22;0.15	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.69672	0.3137	M	0.64170	1.965	0.80722	D	1	P;D	0.54601	0.935;0.967	P;P	0.62014	0.824;0.897	T	0.71080	-0.4696	10	0.40728	T	0.16	-28.3638	12.7442	0.57270	1.0:0.0:0.0:0.0	.	90;169	B7Z3X2;Q9NTN3	.;S35D1_HUMAN	T	169;90	ENSP00000235345:M169T;ENSP00000445189:M90T	ENSP00000235345:M169T	M	-	2	0	SLC35D1	67288080	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.255000	0.72466	2.000000	0.58554	0.533000	0.62120	ATG		0.303	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025948.1	NM_015139	
SRSF11	9295	hgsc.bcm.edu	37	1	70710423	70710423	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:70710423G>A	ENST00000370950.3	+	9	939	c.857G>A	c.(856-858)cGa>cAa	p.R286Q	SRSF11_ENST00000484162.1_3'UTR|SRSF11_ENST00000370951.1_Missense_Mutation_p.R286Q|SRSF11_ENST00000370949.1_Missense_Mutation_p.R226Q|SRSF11_ENST00000405432.1_Missense_Mutation_p.R286Q			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	286	10 X 8 AA approximate repeats of R-R-S-R- S-R-S-R.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|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)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R286Q(1)		large_intestine(3)|ovary(2)|skin(1)	6						AGTCGGCGACGATCCAAAAGC	0.443																																					p.R286Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G857A	1						.						95.0	91.0	92.0					1																	70710423		2203	4300	6503	70483011	SO:0001583	missense	9295	exon9			M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.857G>A	1.37:g.70710423G>A	ENSP00000359988:p.Arg286Gln		70483011	NM_004768	Q5T758|Q8IWE6	Missense_Mutation	SNP	ENST00000370950.3	37	CCDS647.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008587	0.93346	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000395136;ENST00000370949	T;T;T;T;T	0.69306	2.01;2.01;2.01;2.58;-0.39	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.81616	0.4860	M	0.83953	2.67	0.80722	D	1	D;D;D;D	0.71674	0.998;0.997;0.997;0.997	D;D;D;D	0.75484	0.986;0.968;0.968;0.968	T	0.81711	-0.0808	10	0.52906	T	0.07	.	19.8223	0.96603	0.0:0.0:1.0:0.0	.	226;286;286;286	Q5T757;Q6PJB9;Q8IWE6;Q05519	.;.;.;SRS11_HUMAN	Q	286;286;286;286;226	ENSP00000359989:R286Q;ENSP00000359988:R286Q;ENSP00000384357:R286Q;ENSP00000378568:R286Q;ENSP00000359987:R226Q	ENSP00000359987:R226Q	R	+	2	0	SRSF11	70483011	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.395000	0.97266	2.763000	0.94921	0.555000	0.69702	CGA		0.443	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768	
LHX8	431707	hgsc.bcm.edu	37	1	75606683	75606683	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:75606683G>A	ENST00000294638.5	+	5	945	c.281G>A	c.(280-282)tGc>tAc	p.C94Y	LHX8_ENST00000559413.1_3'UTR|LHX8_ENST00000356261.3_Missense_Mutation_p.C84Y	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	94	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.C94Y(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						AATGACCTATGCTGGCATGTC	0.403																																					p.C94Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G281A	1						.						145.0	140.0	142.0					1																	75606683		2203	4300	6503	75379271	SO:0001583	missense	431707	exon5			AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.281G>A	1.37:g.75606683G>A	ENSP00000294638:p.Cys94Tyr		75379271	NM_001001933	E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759192	0.49468	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.86769	-2.17;-2.17	5.55	5.55	0.83447	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.85470	0.5704	N	0.11364	0.135	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.88346	0.2978	10	0.51188	T	0.08	.	19.4996	0.95089	0.0:0.0:1.0:0.0	.	94	Q68G74	LHX8_HUMAN	Y	94;84	ENSP00000294638:C94Y;ENSP00000348597:C84Y	ENSP00000294638:C94Y	C	+	2	0	LHX8	75379271	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.606000	0.88127	0.650000	0.86243	TGC		0.403	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933	
PIGK	10026	hgsc.bcm.edu	37	1	77627341	77627341	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:77627341G>A	ENST00000370812.3	-	7	663	c.640C>T	c.(640-642)Cga>Tga	p.R214*	PIGK_ENST00000445065.1_Nonsense_Mutation_p.R120*|PIGK_ENST00000359130.1_Nonsense_Mutation_p.R214*|PIGK_ENST00000370813.5_Nonsense_Mutation_p.R138*|PIGK_ENST00000478391.1_5'UTR	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	214					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756)	p.R214*(2)		endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						GAATAAAATCGTTCATACATG	0.373																																					p.R214X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|pancreas(1)	c.C640T	1						.						109.0	101.0	104.0					1																	77627341		2203	4300	6503	77399929	SO:0001587	stop_gained	10026	exon7			AF022913	CCDS674.1	1p31.1	2013-02-26	2006-06-28		ENSG00000142892	ENSG00000142892		"""Phosphatidylinositol glycan anchor biosynthesis"""	8965	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	605087	"""phosphatidylinositol glycan, class K"""			9356492	Standard	NM_005482		Approved	hGPI8, GPI8	uc001dhk.3	Q92643	OTTHUMG00000009686	ENST00000370812.3:c.640C>T	1.37:g.77627341G>A	ENSP00000359848:p.Arg214*		77399929	NM_005482	B2R7K3|B4E2M3|O14822|Q5TG77	Nonsense_Mutation	SNP	ENST00000370812.3	37	CCDS674.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933782	0.92458	.	.	ENSG00000142892	ENST00000370812;ENST00000445065;ENST00000370813;ENST00000359130	.	.	.	4.63	3.7	0.42460	.	0.062525	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-21.0062	14.1085	0.65107	0.0:0.0:0.8394:0.1606	.	.	.	.	X	214;120;138;214	.	ENSP00000352041:R214X	R	-	1	2	PIGK	77399929	0.996000	0.38824	0.961000	0.40146	0.944000	0.59088	1.412000	0.34714	1.271000	0.44313	0.650000	0.86243	CGA		0.373	PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026687.1	NM_005482	
ZZZ3	26009	hgsc.bcm.edu	37	1	78098062	78098062	+	Silent	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:78098062G>T	ENST00000370801.3	-	5	1453	c.978C>A	c.(976-978)gcC>gcA	p.A326A	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	326					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.A326A(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						GCTCTTTTGAGGCACTGCTAT	0.473																																					p.A326A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C978A	1						.						206.0	189.0	195.0					1																	78098062		2203	4300	6503	77870650	SO:0001819	synonymous_variant	26009	exon5			AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.978C>A	1.37:g.78098062G>T			77870650	NM_015534	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Silent	SNP	ENST00000370801.3	37	CCDS677.1																																																																																				0.473	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534	
GBP3	2635	hgsc.bcm.edu	37	1	89477604	89477604	+	Silent	SNP	T	T	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:89477604T>G	ENST00000370481.4	-	7	1195	c.975A>C	c.(973-975)gcA>gcC	p.A325A		NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	359					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.A325A(1)		breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		CCTTTTGCACTGCGGCTGAGT	0.572																																					p.A325A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A975C	1						.						86.0	61.0	70.0					1																	89477604		2190	3958	6148	89250192	SO:0001819	synonymous_variant	2635	exon7			BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.975A>C	1.37:g.89477604T>G			89250192	NM_018284	A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Silent	SNP	ENST00000370481.4	37	CCDS717.2																																																																																				0.572	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	NM_018284	
GFI1	2672	hgsc.bcm.edu	37	1	92949037	92949037	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:92949037C>T	ENST00000370332.1	-	2	326	c.8G>A	c.(7-9)cGc>cAc	p.R3H	GFI1_ENST00000483490.1_5'UTR|GFI1_ENST00000294702.5_Missense_Mutation_p.R3H|GFI1_ENST00000427103.1_Missense_Mutation_p.R3H	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	3	SNAG domain. {ECO:0000250}.				auditory receptor cell differentiation (GO:0042491)|cell fate commitment (GO:0045165)|cellular response to lipopolysaccharide (GO:0071222)|inner ear morphogenesis (GO:0042472)|mechanosensory behavior (GO:0007638)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell fate specification (GO:0009996)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vitamin D biosynthetic process (GO:0010957)|positive regulation of cell fate specification (GO:0042660)|positive regulation of interleukin-6-mediated signaling pathway (GO:0070105)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|viral process (GO:0016032)	nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R3H(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		GAGAAATGAGCGCGGCATGGT	0.632																																					p.R3H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8A	1						.						67.0	52.0	57.0					1																	92949037		2202	4300	6502	92721625	SO:0001583	missense	2672	exon2			U67369	CCDS30773.1	1p22	2014-09-17	2007-10-04		ENSG00000162676	ENSG00000162676		"""Zinc fingers, C2H2-type"""	4237	protein-coding gene	gene with protein product		600871	"""growth factor independent 1"""	ZNF163		7789186	Standard	NM_005263		Approved	GFI1A, GFI-1	uc001dov.4	Q99684	OTTHUMG00000010897	ENST00000370332.1:c.8G>A	1.37:g.92949037C>T	ENSP00000359357:p.Arg3His		92721625	NM_001127215	Q8N564	Missense_Mutation	SNP	ENST00000370332.1	37	CCDS30773.1	.	.	.	.	.	.	.	.	.	.	C	34	5.312073	0.95655	.	.	ENSG00000162676	ENST00000370332;ENST00000427103;ENST00000294702	T;T;T	0.37235	1.21;1.21;1.21	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.56790	0.2009	M	0.77103	2.36	0.54753	D	0.999985	D	0.89917	1.0	D	0.83275	0.996	T	0.62224	-0.6899	10	0.87932	D	0	-31.7552	17.8568	0.88767	0.0:1.0:0.0:0.0	.	3	Q99684	GFI1_HUMAN	H	3	ENSP00000359357:R3H;ENSP00000399719:R3H;ENSP00000294702:R3H	ENSP00000294702:R3H	R	-	2	0	GFI1	92721625	0.803000	0.28956	1.000000	0.80357	0.833000	0.47200	7.396000	0.79891	2.500000	0.84329	0.561000	0.74099	CGC		0.632	GFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030054.1	NM_005263	
EVI5	7813	hgsc.bcm.edu	37	1	93091381	93091381	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:93091381C>T	ENST00000370331.1	-	13	1599	c.1590G>A	c.(1588-1590)caG>caA	p.Q530Q	EVI5_ENST00000540033.1_Silent_p.Q530Q|EVI5_ENST00000491940.1_5'UTR|EVI5_ENST00000543509.1_Silent_p.Q541Q	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	530	Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.Q530Q(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CCTTGACTTGCTGTCTAAGTT	0.358																																					p.Q530Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1590A	1						.						147.0	146.0	146.0					1																	93091381		2202	4299	6501	92863969	SO:0001819	synonymous_variant	7813	exon13			AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.1590G>A	1.37:g.93091381C>T			92863969	NM_005665	A6NKX8|B9A6J0|Q9H1Y9	Silent	SNP	ENST00000370331.1	37	CCDS30774.1																																																																																				0.358	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665	
DPYD	1806	hgsc.bcm.edu	37	1	98039345	98039345	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:98039345G>A	ENST00000370192.3	-	11	1410	c.1310C>T	c.(1309-1311)gCc>gTc	p.A437V		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	437					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.A437V(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TGAACCAAAGGCACTGATGAC	0.418																																					p.A437V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1310T	1						.						219.0	187.0	198.0					1																	98039345		2203	4300	6503	97811933	SO:0001583	missense	1806	exon11			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1310C>T	1.37:g.98039345G>A	ENSP00000359211:p.Ala437Val		97811933	NM_000110	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	G	32	5.136431	0.94517	.	.	ENSG00000188641	ENST00000370192	D	0.91407	-2.84	5.81	5.81	0.92471	.	0.160320	0.56097	D	0.000036	D	0.97093	0.9050	H	0.99312	4.51	0.80722	D	1	D	0.58970	0.984	P	0.58331	0.837	D	0.98327	1.0531	10	0.87932	D	0	-5.1766	17.8525	0.88751	0.0:0.0:1.0:0.0	.	437	Q12882	DPYD_HUMAN	V	437	ENSP00000359211:A437V	ENSP00000359211:A437V	A	-	2	0	DPYD	97811933	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.402000	0.97298	2.737000	0.93849	0.650000	0.86243	GCC		0.418	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110	
DPYD	1806	hgsc.bcm.edu	37	1	98058899	98058899	+	Missense_Mutation	SNP	C	C	T	rs72549306		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:98058899C>T	ENST00000370192.3	-	10	1103	c.1003G>A	c.(1003-1005)Gtg>Atg	p.V335M		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	335					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.V335M(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	AGTACAATCACGACTCCCCGT	0.478																																					p.V335M												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G1003A	1	GRCh37	CM983497	DPYD	M	rs72549306	.						133.0	114.0	121.0					1																	98058899		2203	4300	6503	97831487	SO:0001583	missense	1806	exon10			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1003G>A	1.37:g.98058899C>T	ENSP00000359211:p.Val335Met		97831487	NM_000110	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.774831	0.70107	.	.	ENSG00000188641	ENST00000370192	D	0.96396	-4.0	5.91	5.91	0.95273	.	0.124299	0.53938	D	0.000043	D	0.98975	0.9651	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.99410	1.0930	10	0.87932	D	0	-15.2832	18.479	0.90804	0.0:1.0:0.0:0.0	.	335	Q12882	DPYD_HUMAN	M	335	ENSP00000359211:V335M	ENSP00000359211:V335M	V	-	1	0	DPYD	97831487	1.000000	0.71417	1.000000	0.80357	0.395000	0.30598	7.259000	0.78381	2.793000	0.96121	0.655000	0.94253	GTG		0.478	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110	
KIAA1324	57535	hgsc.bcm.edu	37	1	109727724	109727725	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	AC	AC	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:109727724_109727725delAC	ENST00000369939.3	+	8	1193_1194	c.1010_1011delAC	c.(1009-1011)tacfs	p.Y337fs	KIAA1324_ENST00000529753.1_Intron	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	337					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)	p.T340fs*21(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GATTATTTCTACACACACACGG	0.49																																					p.337_337del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1010_1011del	1						.																																			109529248	SO:0001589	frameshift_variant	57535	exon8			AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.1010_1011delAC	1.37:g.109727732_109727733delAC	ENSP00000358955:p.Tyr337fs		109529247	NM_020775	Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Frame_Shift_Del	DEL	ENST00000369939.3	37	CCDS794.1																																																																																				0.490	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775	
ZNF692	55657	hgsc.bcm.edu	37	1	249150095	249150095	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:249150095G>T	ENST00000306601.4	-	7	876	c.710C>A	c.(709-711)cCt>cAt	p.P237H	ZNF692_ENST00000427146.1_Missense_Mutation_p.P192H|ZNF692_ENST00000451251.1_Missense_Mutation_p.P242H|ZNF692_ENST00000366471.3_Missense_Mutation_p.P192H|ZNF692_ENST00000366469.5_Missense_Mutation_p.P236H|ZNF692_ENST00000468455.1_5'UTR	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	237					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.P237H(1)		endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CCCCTCTTTAGGTGTGCAGGT	0.562																																					p.P192H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C575A	1						.						54.0	56.0	56.0					1																	249150095		2203	4300	6503	247116718	SO:0001583	missense	55657	exon6			BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"""Zinc fingers, C2H2-type"""	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.710C>A	1.37:g.249150095G>T	ENSP00000305483:p.Pro237His		247116718	NM_001193328	B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Missense_Mutation	SNP	ENST00000306601.4	37	CCDS31127.1	.	.	.	.	.	.	.	.	.	.	G	9.332	1.060810	0.19987	.	.	ENSG00000171163	ENST00000306601;ENST00000427146;ENST00000366471;ENST00000366469;ENST00000451251	T;T;T;T;T	0.08984	3.08;3.13;3.13;3.03;3.07	4.73	2.55	0.30701	.	0.474289	0.19701	N	0.108023	T	0.06690	0.0171	N	0.22421	0.69	0.09310	N	1	B;B;B	0.24963	0.07;0.115;0.07	B;B;B	0.36378	0.111;0.223;0.111	T	0.35251	-0.9796	10	0.41790	T	0.15	-0.7183	4.6295	0.12495	0.7269:0.0:0.2731:0.0	.	242;192;237	B4DXZ0;Q9BU19-2;Q9BU19	.;.;ZN692_HUMAN	H	237;192;192;236;242	ENSP00000305483:P237H;ENSP00000390044:P192H;ENSP00000355427:P192H;ENSP00000355425:P236H;ENSP00000391200:P242H	ENSP00000305483:P237H	P	-	2	0	ZNF692	247116718	0.232000	0.23762	0.000000	0.03702	0.010000	0.07245	1.320000	0.33666	0.520000	0.28426	0.462000	0.41574	CCT		0.562	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865	
TRPC6	7225	hgsc.bcm.edu	37	11	101359798	101359798	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:101359798A>G	ENST00000344327.3	-	4	1587	c.1163T>C	c.(1162-1164)cTc>cCc	p.L388P	TRPC6_ENST00000360497.4_Intron|TRPC6_ENST00000532133.1_Missense_Mutation_p.L388P|TRPC6_ENST00000348423.4_Intron	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	388					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.L388P(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCAAATGGAGAGAAGTTGCTG	0.428																																					p.L388P	Colon(166;1315 1927 11094 12848 34731)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1163C	11						.						97.0	86.0	90.0					11																	101359798		2203	4299	6502	100865008	SO:0001583	missense	7225	exon4			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1163T>C	11.37:g.101359798A>G	ENSP00000340913:p.Leu388Pro		100865008	NM_004621	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	A	19.41	3.821939	0.71028	.	.	ENSG00000137672	ENST00000344327;ENST00000532133	T;T	0.70399	-0.48;-0.48	6.01	6.01	0.97437	.	0.057808	0.64402	D	0.000001	D	0.84611	0.5510	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84297	0.0503	10	0.38643	T	0.18	-6.0579	16.5285	0.84344	1.0:0.0:0.0:0.0	.	388	Q9Y210	TRPC6_HUMAN	P	388	ENSP00000340913:L388P;ENSP00000435574:L388P	ENSP00000340913:L388P	L	-	2	0	TRPC6	100865008	1.000000	0.71417	0.856000	0.33681	0.783000	0.44284	7.169000	0.77578	2.307000	0.77673	0.528000	0.53228	CTC		0.428	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621	
ATM	472	hgsc.bcm.edu	37	11	108213992	108213992	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:108213992C>T	ENST00000452508.2	+	58	8501	c.8312C>T	c.(8311-8313)aCa>aTa	p.T2771I	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.T2771I|C11orf65_ENST00000526725.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2771	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|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 apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.T2771I(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GAATGGTGCACAGGAACTGTC	0.393			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																											p.T2771I		yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8312T	11						.						168.0	154.0	159.0					11																	108213992		2201	4298	6499	107719202	SO:0001583	missense	472	exon57	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8312C>T	11.37:g.108213992C>T	ENSP00000388058:p.Thr2771Ile		107719202	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644841	0.87859	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.75938	-0.98;-0.98	5.56	5.56	0.83823	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.103382	0.64402	D	0.000002	T	0.79375	0.4435	L	0.37800	1.135	0.80722	D	1	D	0.56968	0.978	P	0.57846	0.828	T	0.79317	-0.1853	10	0.52906	T	0.07	.	19.8788	0.96888	0.0:1.0:0.0:0.0	.	2771	Q13315	ATM_HUMAN	I	2771	ENSP00000278616:T2771I;ENSP00000388058:T2771I	ENSP00000278616:T2771I	T	+	2	0	ATM	107719202	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.743000	0.68655	2.779000	0.95612	0.561000	0.74099	ACA		0.393	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
DRD2	1813	hgsc.bcm.edu	37	11	113288764	113288764	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:113288764G>A	ENST00000362072.3	-	3	724	c.380C>T	c.(379-381)gCc>gTc	p.A127V	DRD2_ENST00000538967.1_Missense_Mutation_p.A127V|DRD2_ENST00000544518.1_Missense_Mutation_p.A126V|DRD2_ENST00000346454.3_Missense_Mutation_p.A127V|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000542968.1_Missense_Mutation_p.A127V|DRD2_ENST00000355319.2_Missense_Mutation_p.A127V	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	127					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)	p.A127V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GATGCTGATGGCACACAAGTT	0.562																																					p.A127V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C380T	11						.						149.0	104.0	120.0					11																	113288764		2201	4296	6497	112793974	SO:0001583	missense	1813	exon3			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.380C>T	11.37:g.113288764G>A	ENSP00000354859:p.Ala127Val		112793974	NM_000795	Q9NZR3|Q9UPA9	Missense_Mutation	SNP	ENST00000362072.3	37	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644747	0.87859	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967;ENST00000543292	T;T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14;2.68	5.23	5.23	0.72850	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.44912	0.1316	L	0.54323	1.7	0.80722	D	1	B;B;B;P	0.38370	0.188;0.37;0.37;0.628	B;B;B;B	0.43867	0.214;0.214;0.214;0.434	T	0.44667	-0.9313	10	0.66056	D	0.02	.	18.7905	0.91973	0.0:0.0:1.0:0.0	.	126;127;127;127	F8VUV1;P14416-3;P14416-2;P14416	.;.;.;DRD2_HUMAN	V	127;127;127;126;127;127;127	ENSP00000347474:A127V;ENSP00000278597:A127V;ENSP00000354859:A127V;ENSP00000441068:A126V;ENSP00000442172:A127V;ENSP00000438215:A127V;ENSP00000438419:A127V	ENSP00000278597:A127V	A	-	2	0	DRD2	112793974	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.768000	0.98965	2.591000	0.87537	0.655000	0.94253	GCC		0.562	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795	
USP28	57646	hgsc.bcm.edu	37	11	113704203	113704203	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:113704203A>C	ENST00000003302.4	-	7	766	c.698T>G	c.(697-699)gTa>gGa	p.V233G	USP28_ENST00000260188.5_Missense_Mutation_p.V233G|USP28_ENST00000545540.1_Missense_Mutation_p.V108G|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000537706.1_Missense_Mutation_p.V233G	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	233	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.V233G(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AGACGGGTCTACAAATTTTCT	0.398																																					p.V233G	Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T698G	11						.						115.0	115.0	115.0					11																	113704203		2201	4296	6497	113209413	SO:0001583	missense	57646	exon7			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.698T>G	11.37:g.113704203A>C	ENSP00000003302:p.Val233Gly		113209413	NM_020886	B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.247890	0.80024	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000545540;ENST00000537706;ENST00000537642	T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15	4.74	4.74	0.60224	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.66489	0.2794	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.87578	0.989;0.998;0.997;0.998	T	0.75110	-0.3433	10	0.87932	D	0	-14.8603	14.4551	0.67411	1.0:0.0:0.0:0.0	.	233;108;233;233	B4E2Q2;B4E3L3;Q6NZX9;Q96RU2	.;.;.;UBP28_HUMAN	G	233;233;108;233;132	ENSP00000003302:V233G;ENSP00000260188:V233G;ENSP00000444991:V108G;ENSP00000445743:V233G;ENSP00000440799:V132G	ENSP00000003302:V233G	V	-	2	0	USP28	113209413	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	8.728000	0.91484	2.016000	0.59253	0.456000	0.33151	GTA		0.398	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1		
TMPRSS4	56649	hgsc.bcm.edu	37	11	117969711	117969711	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:117969711C>A	ENST00000437212.3	+	3	269	c.55C>A	c.(55-57)Ctg>Atg	p.L19M	TMPRSS4_ENST00000534111.1_Missense_Mutation_p.L17M|TMPRSS4_ENST00000522307.1_5'UTR|TMPRSS4_ENST00000523251.1_Intron|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.L19M			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	19					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.L19M(1)		breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TGTCAAACCCCTGCGCAAACC	0.547																																					p.L17M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C49A	11						.						166.0	145.0	152.0					11																	117969711		2200	4296	6496	117474921	SO:0001583	missense	56649	exon3			AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"""Serine peptidases / Transmembrane"""	11878	protein-coding gene	gene with protein product	"""transmembrane serine protease 3"", ""membrane-type serine protease 2"", ""type II membrane serine protease"""	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.55C>A	11.37:g.117969711C>A	ENSP00000416037:p.Leu19Met		117474921	NM_001173551	A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Missense_Mutation	SNP	ENST00000437212.3	37	CCDS31684.1	.	.	.	.	.	.	.	.	.	.	C	2.920	-0.223359	0.06061	.	.	ENSG00000137648	ENST00000534111;ENST00000437212;ENST00000522824;ENST00000522151	D;D;D;T	0.88741	-2.42;-2.41;-2.4;0.02	4.3	1.18	0.20946	.	0.413175	0.17490	N	0.172399	D	0.83073	0.5175	L	0.54323	1.7	0.09310	N	0.999999	B;B	0.12013	0.003;0.005	B;B	0.17979	0.009;0.02	T	0.69705	-0.5073	10	0.35671	T	0.21	.	5.8176	0.18506	0.0:0.642:0.1604:0.1977	.	19;17	Q9NRS4;Q9NRS4-3	TMPS4_HUMAN;.	M	17;19;19;17	ENSP00000435184:L17M;ENSP00000416037:L19M;ENSP00000430547:L19M;ENSP00000428407:L17M	ENSP00000416037:L19M	L	+	1	2	TMPRSS4	117474921	0.000000	0.05858	0.042000	0.18584	0.080000	0.17528	-0.440000	0.06888	0.129000	0.18514	0.449000	0.29647	CTG		0.547	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377328.2	NM_019894	
ARCN1	372	hgsc.bcm.edu	37	11	118454577	118454577	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:118454577A>T	ENST00000264028.4	+	4	596	c.501A>T	c.(499-501)caA>caT	p.Q167H	ARCN1_ENST00000392859.3_Missense_Mutation_p.Q79H|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000359415.4_Missense_Mutation_p.Q208H	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	167					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.Q167H(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AGGAATTACAACAGGCCCGAA	0.448																																					p.Q79H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A237T	11						.						130.0	115.0	120.0					11																	118454577		2200	4295	6495	117959787	SO:0001583	missense	372	exon3			X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"""coatomer protein complex, subunit delta"""	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.501A>T	11.37:g.118454577A>T	ENSP00000264028:p.Gln167His		117959787	NM_001142281	B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	ENST00000264028.4	37	CCDS8400.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.436022	0.83885	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000542521;ENST00000264028	T;T;T	0.33654	1.41;1.4;1.41	6.02	-3.54	0.04653	.	0.000000	0.85682	D	0.000000	T	0.55049	0.1896	M	0.80422	2.495	0.80722	D	1	D;D;P	0.71674	0.998;0.997;0.577	P;D;B	0.64687	0.888;0.928;0.13	T	0.65549	-0.6141	10	0.62326	D	0.03	-17.9643	15.7575	0.78046	0.2845:0.0:0.7155:0.0	.	79;208;167	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	H	79;208;167;167	ENSP00000376599:Q79H;ENSP00000352385:Q208H;ENSP00000264028:Q167H	ENSP00000264028:Q167H	Q	+	3	2	ARCN1	117959787	0.997000	0.39634	0.992000	0.48379	0.983000	0.72400	0.439000	0.21575	-0.373000	0.07979	-0.256000	0.11100	CAA		0.448	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1		
C2CD2L	9854	hgsc.bcm.edu	37	11	118984833	118984833	+	Missense_Mutation	SNP	C	C	T	rs201072240	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:118984833C>T	ENST00000528586.1	+	9	981	c.911C>T	c.(910-912)gCg>gTg	p.A304V	C2CD2L_ENST00000336702.3_Missense_Mutation_p.A557V			O14523	C2C2L_HUMAN	C2CD2-like	556						integral component of membrane (GO:0016021)		p.A557V(2)		NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CTGGGCTATGCGGCATCCCTG	0.612													C|||	2	0.000399361	0.0	0.0	5008	,	,		18524	0.001		0.0	False		,,,				2504	0.001				p.A557V												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.C1670T	11						.						109.0	110.0	109.0					11																	118984833		2200	4295	6495	118490043	SO:0001583	missense	9854	exon13			AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"""transmembrane protein 24"""	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.911C>T	11.37:g.118984833C>T	ENSP00000433600:p.Ala304Val		118490043	NM_014807	Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	ENST00000528586.1	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	24.6	4.548263	0.86127	.	.	ENSG00000172375	ENST00000336702;ENST00000528586	T;T	0.49432	0.78;0.78	5.11	3.2	0.36748	.	0.000000	0.85682	D	0.000000	T	0.61438	0.2347	M	0.61703	1.905	0.48135	D	0.999593	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.59490	-0.7445	10	0.46703	T	0.11	1.7815	9.4646	0.38804	0.1429:0.7824:0.0:0.0747	.	556;557	O14523;O14523-2	C2C2L_HUMAN;.	V	557;304	ENSP00000338885:A557V;ENSP00000433600:A304V	ENSP00000338885:A557V	A	+	2	0	C2CD2L	118490043	0.996000	0.38824	0.983000	0.44433	0.991000	0.79684	3.316000	0.51960	0.813000	0.34350	0.655000	0.94253	GCG		0.612	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	NM_014807	
PVRL1	5818	hgsc.bcm.edu	37	11	119535805	119535805	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:119535805C>A	ENST00000264025.3	-	6	1736	c.1206G>T	c.(1204-1206)aaG>aaT	p.K402N	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	402					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)	p.K402N(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GGATGCCTGCCTTGCTGTAGC	0.632																																					p.K402N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1206T	11						.						175.0	119.0	138.0					11																	119535805		2199	4295	6494	119041015	SO:0001583	missense	5818	exon6			X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1206G>T	11.37:g.119535805C>A	ENSP00000264025:p.Lys402Asn		119041015	NM_002855	O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000264025.3	37	CCDS8426.1	.	.	.	.	.	.	.	.	.	.	-	16.22	3.063039	0.55432	.	.	ENSG00000110400	ENST00000264025	T	0.21543	2.0	3.9	1.99	0.26369	.	0.000000	0.85682	D	0.000000	T	0.37237	0.0996	L	0.57536	1.79	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.04427	-1.0952	10	0.54805	T	0.06	.	9.3103	0.37900	0.0:0.737:0.0:0.263	.	402	Q15223	PVRL1_HUMAN	N	402	ENSP00000264025:K402N	ENSP00000264025:K402N	K	-	3	2	PVRL1	119041015	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	0.999000	0.29757	0.384000	0.24942	-0.366000	0.07423	AAG		0.632	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1		
TECTA	7007	hgsc.bcm.edu	37	11	121000715	121000715	+	Silent	SNP	C	C	T	rs368050948		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:121000715C>T	ENST00000392793.1	+	10	3007	c.2736C>T	c.(2734-2736)tgC>tgT	p.C912C	TECTA_ENST00000264037.2_Silent_p.C912C			O75443	TECTA_HUMAN	tectorin alpha	912	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.C912C(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCTCCAGGTGCGGCATCATCA	0.567																																					p.C912C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2736T	11						.	C		2,4404	4.2+/-10.8	0,2,2201	65.0	63.0	64.0		2736	-10.1	0.3	11		64	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	TECTA	NM_005422.2		0,3,6499	TT,TC,CC		0.0116,0.0454,0.0231		912/2156	121000715	3,13001	2203	4299	6502	120505925	SO:0001819	synonymous_variant	7007	exon9			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2736C>T	11.37:g.121000715C>T			120505925	NM_005422		Silent	SNP	ENST00000392793.1	37	CCDS8434.1																																																																																				0.567	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
TECTA	7007	hgsc.bcm.edu	37	11	121038808	121038808	+	Missense_Mutation	SNP	A	A	G	rs202045605		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:121038808A>G	ENST00000392793.1	+	19	5903	c.5632A>G	c.(5632-5634)Agc>Ggc	p.S1878G	TECTA_ENST00000264037.2_Missense_Mutation_p.S1878G			O75443	TECTA_HUMAN	tectorin alpha	1878	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.		S -> R (in dbSNP:rs2155369).		cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.S1878G(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTGGATCGAAAGCGCCAACAA	0.448																																					p.S1878G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5632G	11						.						232.0	198.0	210.0					11																	121038808		2203	4299	6502	120544018	SO:0001583	missense	7007	exon18			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.5632A>G	11.37:g.121038808A>G	ENSP00000376543:p.Ser1878Gly		120544018	NM_005422		Missense_Mutation	SNP	ENST00000392793.1	37	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.754547	0.89843	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.82255	-1.59;-1.59	6.03	6.03	0.97812	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.88175	0.6366	L	0.43923	1.385	0.54753	D	0.999988	D	0.69078	0.997	D	0.77004	0.989	D	0.88710	0.3222	10	0.59425	D	0.04	.	16.5655	0.84588	1.0:0.0:0.0:0.0	.	1878	O75443	TECTA_HUMAN	G	1878	ENSP00000376543:S1878G;ENSP00000264037:S1878G	ENSP00000264037:S1878G	S	+	1	0	TECTA	120544018	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.923000	0.92808	2.302000	0.77476	0.533000	0.62120	AGC		0.448	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
C11orf63	79864	hgsc.bcm.edu	37	11	122805607	122805607	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:122805607C>T	ENST00000531316.1	+	4	1550	c.1458C>T	c.(1456-1458)caC>caT	p.H486H	C11orf63_ENST00000227349.2_Silent_p.H486H			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	486			H -> R (in dbSNP:rs33999612).		axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)			p.H486H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AGCAGCTACACACCCTTTCTG	0.383																																					p.H486H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1458T	11						.						108.0	111.0	110.0					11																	122805607		2202	4299	6501	122310817	SO:0001819	synonymous_variant	79864	exon5			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.1458C>T	11.37:g.122805607C>T			122310817	NM_024806	A8K6G0|Q96GB5|Q9H5D6	Silent	SNP	ENST00000531316.1	37	CCDS8438.1																																																																																				0.383	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806	
OR8B12	219858	hgsc.bcm.edu	37	11	124413512	124413512	+	Silent	SNP	G	G	A	rs575300159		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:124413512G>A	ENST00000306842.2	-	1	63	c.39C>T	c.(37-39)ctC>ctT	p.L13L		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L13L(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TTAAGCCTTCGAGGATAAACT	0.527													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17551	0.0		0.0	False		,,,				2504	0.0				p.L13L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C39T	11						.						33.0	38.0	36.0					11																	124413512		2197	4295	6492	123918722	SO:0001819	synonymous_variant	219858	exon1				CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.39C>T	11.37:g.124413512G>A			123918722	NM_001005195	B2RNF6|Q6IEW8|Q96RC7	Silent	SNP	ENST00000306842.2	37	CCDS31711.1																																																																																				0.527	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1		
TEAD1	7003	hgsc.bcm.edu	37	11	12904613	12904613	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:12904613A>G	ENST00000526600.1	+	4	575	c.352A>G	c.(352-354)Acc>Gcc	p.T118A	TEAD1_ENST00000361905.4_Missense_Mutation_p.T199A|TEAD1_ENST00000527636.1_Missense_Mutation_p.T214A|TEAD1_ENST00000527575.1_Missense_Mutation_p.T214A|TEAD1_ENST00000334310.6_Missense_Mutation_p.T203A|TEAD1_ENST00000361985.2_Missense_Mutation_p.T214A			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	214					gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T199A(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CATTGGCACAACCAAGCTTCG	0.562																																					p.T214A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A640G	11						.						124.0	108.0	113.0					11																	12904613		2200	4294	6494	12861189	SO:0001583	missense	7003	exon9			X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"""atrophia areata, peripapillary chorioretinal degeneration"""	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.352A>G	11.37:g.12904613A>G	ENSP00000435393:p.Thr118Ala		12861189	NM_021961	A4FUP2|E7EV65	Missense_Mutation	SNP	ENST00000526600.1	37		.	.	.	.	.	.	.	.	.	.	A	11.32	1.604543	0.28623	.	.	ENSG00000187079	ENST00000361905;ENST00000527636;ENST00000527575;ENST00000334310;ENST00000361985;ENST00000526600	T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61	5.59	5.59	0.84812	.	0.045887	0.85682	D	0.000000	T	0.17066	0.0410	N	0.10916	0.065	0.44123	D	0.996908	B;B;B	0.31153	0.31;0.0;0.0	B;B;B	0.28139	0.086;0.002;0.0	T	0.11616	-1.0580	10	0.14252	T	0.57	-12.3384	15.4426	0.75200	1.0:0.0:0.0:0.0	.	203;118;214	A4FUP2;E9PKB7;P28347	.;.;TEAD1_HUMAN	A	199;214;214;203;214;118	ENSP00000355332:T199A;ENSP00000435233:T214A;ENSP00000435977:T214A;ENSP00000334754:T203A;ENSP00000354588:T214A;ENSP00000435393:T118A	ENSP00000334754:T203A	T	+	1	0	TEAD1	12861189	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.685000	0.68204	2.123000	0.65237	0.533000	0.62120	ACC		0.562	TEAD1-007	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000387220.1	NM_021961	
ARHGAP32	9743	hgsc.bcm.edu	37	11	128842462	128842462	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:128842462C>T	ENST00000310343.9	-	21	3896	c.3897G>A	c.(3895-3897)acG>acA	p.T1299T	ARHGAP32_ENST00000392657.3_Silent_p.T950T|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Silent_p.T950T	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1299					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.T1299T(1)|p.T950T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TAGTTCTGTGCGTGCGCTGAA	0.552																																					p.T950T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G2850A	11						.						114.0	108.0	110.0					11																	128842462		2201	4297	6498	128347672	SO:0001819	synonymous_variant	9743	exon12			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.3897G>A	11.37:g.128842462C>T			128347672	NM_014715	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	ENST00000310343.9	37	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	0.057	-1.234743	0.01505	.	.	ENSG00000134909	ENST00000356092	.	.	.	5.56	-11.1	0.00147	.	.	.	.	.	T	0.33556	0.0867	.	.	.	0.19300	N	0.999975	.	.	.	.	.	.	T	0.58370	-0.7648	5	0.72032	D	0.01	.	6.7066	0.23254	0.1703:0.503:0.1463:0.1803	.	.	.	.	H	283	.	ENSP00000348396:R283H	R	-	2	0	ARHGAP32	128347672	0.000000	0.05858	0.000000	0.03702	0.185000	0.23345	-4.283000	0.00260	-5.693000	0.00010	-3.209000	0.00053	CGC		0.552	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715	
PRDM10	56980	hgsc.bcm.edu	37	11	129817096	129817096	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:129817096G>A	ENST00000360871.3	-	5	695	c.464C>T	c.(463-465)aCg>aTg	p.T155M	PRDM10_ENST00000526082.1_Missense_Mutation_p.T69M|PRDM10_ENST00000358825.5_Missense_Mutation_p.T155M|PRDM10_ENST00000304538.6_Missense_Mutation_p.T69M|PRDM10_ENST00000528746.1_Missense_Mutation_p.T129M|PRDM10_ENST00000423662.2_Missense_Mutation_p.T69M	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	155					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.T155M(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)		ATCCAGATCCGTGTCCTCACC	0.597																																					p.T155M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C464T	11						.						300.0	168.0	213.0					11																	129817096		2201	4297	6498	129322306	SO:0001583	missense	56980	exon5			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.464C>T	11.37:g.129817096G>A	ENSP00000354118:p.Thr155Met		129322306	NM_020228	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471792	0.63737	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000527581	T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.27	5.27	0.74061	.	0.134591	0.51477	D	0.000082	T	0.51109	0.1655	N	0.24115	0.695	0.40803	D	0.983356	D;D;D;D;D;D;D	0.89917	0.992;1.0;0.988;0.979;0.995;0.988;0.988	P;D;P;P;P;P;P	0.63597	0.72;0.916;0.799;0.635;0.855;0.799;0.799	T	0.56463	-0.7975	10	0.66056	D	0.02	-11.9735	19.2663	0.93988	0.0:0.0:1.0:0.0	.	69;155;155;155;69;69;69	B7ZL72;Q9NQV6-4;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;.;PRD10_HUMAN;.;.;.	M	155;69;155;69;129;69;135	ENSP00000351686:T155M;ENSP00000302669:T69M;ENSP00000354118:T155M;ENSP00000398431:T69M;ENSP00000431262:T129M;ENSP00000432237:T69M;ENSP00000432093:T135M	ENSP00000302669:T69M	T	-	2	0	PRDM10	129322306	1.000000	0.71417	0.994000	0.49952	0.727000	0.41649	9.034000	0.93747	2.619000	0.88677	0.650000	0.86243	ACG		0.597	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437	
NTM	50863	hgsc.bcm.edu	37	11	132204984	132204984	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:132204984G>T	ENST00000374786.1	+	7	1458	c.979G>T	c.(979-981)Gca>Tca	p.A327S	NTM_ENST00000474900.1_3'UTR|NTM_ENST00000539799.1_Missense_Mutation_p.A338S|NTM_ENST00000374791.3_Missense_Mutation_p.A327S|NTM_ENST00000425719.2_Missense_Mutation_p.A338S|NTM_ENST00000427481.2_Missense_Mutation_p.A329S	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	327					cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.A327S(2)|p.A327T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GTCGAGGAGGGCAGGCTGCGT	0.612																																					p.A338S												HNT,central_nervous_system,brain,Substitution - Missense,0	.	3	Substitution - Missense(3)	large_intestine(2)|central_nervous_system(1)	c.G1012T	11						.						110.0	109.0	109.0					11																	132204984		2201	4297	6498	131710194	SO:0001583	missense	50863	exon8			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.979G>T	11.37:g.132204984G>T	ENSP00000363918:p.Ala327Ser		131710194	NM_001144058	A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.738735	0.30774	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000427481;ENST00000374786;ENST00000425719	T;T;T;T;T	0.60299	0.26;0.25;0.2;0.28;0.24	5.13	5.13	0.70059	.	0.412692	0.26307	N	0.025127	T	0.39489	0.1080	N	0.19112	0.55	0.26187	N	0.979632	B;B;B;B;B;B	0.16396	0.017;0.017;0.009;0.01;0.005;0.016	B;B;B;B;B;B	0.14023	0.009;0.004;0.004;0.009;0.004;0.01	T	0.15037	-1.0451	10	0.18276	T	0.48	-8.0632	11.2431	0.48980	0.0864:0.0:0.9136:0.0	.	338;329;286;338;327;327	B7Z1Z5;B7Z1I4;B7Z1H3;Q9P121-4;Q9P121;Q9P121-2	.;.;.;.;NTRI_HUMAN;.	S	327;338;329;327;338	ENSP00000363923:A327S;ENSP00000437668:A338S;ENSP00000416320:A329S;ENSP00000363918:A327S;ENSP00000396722:A338S	ENSP00000363918:A327S	A	+	1	0	NTM	131710194	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.228000	0.58619	2.393000	0.81446	0.650000	0.86243	GCA		0.612	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522	
TMEM80	283232	hgsc.bcm.edu	37	11	700162	700162	+	Silent	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:700162A>G	ENST00000608174.1	+	3	272	c.135A>G	c.(133-135)caA>caG	p.Q45Q	TMEM80_ENST00000397512.3_Silent_p.Q37Q|TMEM80_ENST00000397510.3_Silent_p.Q93Q	NM_001042463.1|NM_174940.2	NP_001035928.2|NP_777600.3	Q96HE8	TMM80_HUMAN	transmembrane protein 80	45						integral component of membrane (GO:0016021)		p.Q45Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTCCCCTTCAAATGCTGTTTT	0.532																																					p.Q37Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A111G	11						.						175.0	131.0	146.0					11																	700162		2203	4300	6503	690162	SO:0001819	synonymous_variant	283232	exon3				CCDS41587.1, CCDS41587.2, CCDS73231.1	11p15.5	2005-10-18			ENSG00000177042	ENSG00000177042			27453	protein-coding gene	gene with protein product						12477932	Standard	NM_001042463		Approved	FLJ38216	uc010qwi.2	Q96HE8	OTTHUMG00000133307	ENST00000608174.1:c.135A>G	11.37:g.700162A>G			690162	NM_174940	A8MQ01|A8MXY8|B7WNU5	Silent	SNP	ENST00000608174.1	37	CCDS41587.1																																																																																				0.532	TMEM80-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257104.2	NM_174940	
TALDO1	6888	hgsc.bcm.edu	37	11	755917	755917	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:755917C>A	ENST00000319006.3	+	2	289	c.136C>A	c.(136-138)Ccg>Acg	p.P46T	TALDO1_ENST00000528097.1_Missense_Mutation_p.P46T			P37837	TALDO_HUMAN	transaldolase 1	46					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.P46T(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)		TACCACCAACCCGTCCCTGAT	0.562																																					p.P46T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C136A	11						.						86.0	77.0	80.0					11																	755917		2203	4300	6503	745917	SO:0001583	missense	6888	exon2				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.136C>A	11.37:g.755917C>A	ENSP00000321259:p.Pro46Thr		745917	NM_006755	B2R8M2|O00751|Q8WV32|Q8WZ45	Missense_Mutation	SNP	ENST00000319006.3	37	CCDS7712.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806459	0.70682	.	.	ENSG00000177156	ENST00000319006;ENST00000528097	D;D	0.96685	-4.09;-4.09	4.29	4.29	0.51040	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.99045	0.9673	H	0.99464	4.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98821	1.0747	10	0.87932	D	0	-10.799	15.9034	0.79400	0.0:1.0:0.0:0.0	.	46;46	F2Z393;P37837	.;TALDO_HUMAN	T	46	ENSP00000321259:P46T;ENSP00000437098:P46T	ENSP00000321259:P46T	P	+	1	0	TALDO1	745917	1.000000	0.71417	0.997000	0.53966	0.512000	0.34134	7.244000	0.78228	2.119000	0.64992	0.313000	0.20887	CCG		0.562	TALDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257116.1	NM_006755	
HBB	3043	hgsc.bcm.edu	37	11	5247841	5247841	+	Missense_Mutation	SNP	C	C	T	rs34210688|rs35548921		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:5247841C>T	ENST00000335295.4	-	2	330	c.281G>A	c.(280-282)tGt>tAt	p.C94Y	CoTC_ribozyme_ENST00000408104.1_RNA	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	94			C -> R (in Okazaki; O(2) affinity up; unstable).		bicarbonate transport (GO:0015701)|blood coagulation (GO:0007596)|hydrogen peroxide catabolic process (GO:0042744)|nitric oxide transport (GO:0030185)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|platelet aggregation (GO:0070527)|positive regulation of cell death (GO:0010942)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein heterooligomerization (GO:0051291)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|renal absorption (GO:0070293)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|hemoglobin binding (GO:0030492)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.C94Y(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	CAGCTTGTCACAGTGCAGCTC	0.507									Sickle Cell Trait																												p.C94Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G281A	11						.						127.0	106.0	113.0					11																	5247841		2201	4298	6499	5204417	SO:0001583	missense	3043	exon2	Familial Cancer Database		J00173	CCDS7753.1	11p15.5	2014-05-19			ENSG00000244734	ENSG00000244734			4827	protein-coding gene	gene with protein product		141900				2649166	Standard	NM_000518		Approved	CD113t-C, HBD, beta-globin	uc001mae.1	P68871	OTTHUMG00000066678	ENST00000335295.4:c.281G>A	11.37:g.5247841C>T	ENSP00000333994:p.Cys94Tyr		5204417	NM_000518	A4GX73|B2ZUE0|P02023|Q13852|Q14481|Q14510|Q45KT0|Q549N7|Q6FI08|Q6R7N2|Q8IZI1|Q9BX96|Q9UCD6|Q9UCP8|Q9UCP9	Missense_Mutation	SNP	ENST00000335295.4	37	CCDS7753.1	.	.	.	.	.	.	.	.	.	.	c	18.82	3.705971	0.68615	.	.	ENSG00000244734	ENST00000335295	D	0.92752	-3.1	5.24	5.24	0.73138	Globin-like (1);Globin, structural domain (1);	.	.	.	.	D	0.95765	0.8622	M	0.80847	2.515	0.42882	D	0.994172	D	0.89917	1.0	D	0.91635	0.999	D	0.95765	0.8804	9	0.87932	D	0	-11.7625	13.6209	0.62136	0.0:0.8445:0.1555:0.0	rs35548921	94	P68871	HBB_HUMAN	Y	94	ENSP00000333994:C94Y	ENSP00000333994:C94Y	C	-	2	0	HBB	5204417	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	1.830000	0.39131	2.880000	0.98712	0.650000	0.86243	TGT		0.507	HBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142977.2	NM_000518	
UBQLNL	143630	hgsc.bcm.edu	37	11	5536852	5536852	+	Missense_Mutation	SNP	A	A	C	rs2017434	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:5536852A>C	ENST00000380184.1	-	1	1083	c.820T>G	c.(820-822)Tat>Gat	p.Y274D	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	274			Y -> H (in dbSNP:rs2017434). {ECO:0000269|PubMed:15489334}.					p.Y274D(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		ATATCAGCATAGTTCTGACCC	0.468																																					p.Y274D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T820G	11						.						94.0	87.0	90.0					11																	5536852		2201	4297	6498	5493428	SO:0001583	missense	143630	exon1			AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.820T>G	11.37:g.5536852A>C	ENSP00000369531:p.Tyr274Asp		5493428	NM_145053	Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	ENST00000380184.1	37	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	A	2.855	-0.237482	0.05944	.	.	ENSG00000175518	ENST00000380184	T	0.59638	0.25	5.09	3.94	0.45596	.	0.465067	0.18305	N	0.145300	T	0.59932	0.2230	M	0.85373	2.75	0.80722	P	0.0	B	0.10296	0.003	B	0.08055	0.003	T	0.67039	-0.5771	9	0.87932	D	0	-17.5765	8.8448	0.35164	0.8102:0.1898:0.0:0.0	.	274	Q8IYU4	UBQLN_HUMAN	D	274	ENSP00000369531:Y274D	ENSP00000369531:Y274D	Y	-	1	0	UBQLNL	5493428	0.002000	0.14202	0.003000	0.11579	0.002000	0.02628	1.024000	0.30077	0.925000	0.37094	-0.313000	0.08912	TAT		0.468	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053	
FAM160A2	84067	hgsc.bcm.edu	37	11	6239330	6239330	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:6239330G>A	ENST00000449352.2	-	9	1749	c.1486C>T	c.(1486-1488)Ccc>Tcc	p.P496S	FAM160A2_ENST00000529360.1_5'Flank|FAM160A2_ENST00000265978.4_Missense_Mutation_p.P510S|FAM160A2_ENST00000524416.1_Missense_Mutation_p.P496S			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	496					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)		p.P510S(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGTGTGGAGGGCCGGGGTACT	0.567																																					p.P510S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1528T	11						.						20.0	21.0	21.0					11																	6239330		2201	4296	6497	6195906	SO:0001583	missense	84067	exon9				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1486C>T	11.37:g.6239330G>A	ENSP00000416918:p.Pro496Ser		6195906	NM_032127	Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996770	0.54147	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	T;T;T	0.15487	3.08;3.07;2.42	5.5	4.58	0.56647	.	0.054382	0.85682	D	0.000000	T	0.19046	0.0457	L	0.41710	1.295	0.43598	D	0.995953	B;B;P	0.51537	0.33;0.416;0.946	B;B;P	0.46253	0.093;0.064;0.509	T	0.02214	-1.1194	10	0.22706	T	0.39	-23.8276	15.6265	0.76863	0.0:0.1374:0.8626:0.0	.	496;496;510	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	S	496;421;510;496	ENSP00000416918:P496S;ENSP00000265978:P510S;ENSP00000431773:P496S	ENSP00000265978:P510S	P	-	1	0	FAM160A2	6195906	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.063000	0.71162	1.318000	0.45170	0.561000	0.74099	CCC		0.567	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127	
TPP1	1200	hgsc.bcm.edu	37	11	6637558	6637558	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:6637558G>A	ENST00000299427.6	-	8	1123	c.1063C>T	c.(1063-1065)Ctc>Ttc	p.L355F	TPP1_ENST00000533371.1_Missense_Mutation_p.L112F|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000534644.1_5'Flank	NM_000391.3	NP_000382.3	P49638	TTPA_HUMAN	tripeptidyl peptidase I	0					embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)	p.L355F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	Vitamin E(DB00163)	GAGGCGAAGAGCAGGGTGAGA	0.567																																					p.L355F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1063T	11						.						105.0	107.0	106.0					11																	6637558		2201	4296	6497	6594134	SO:0001583	missense	1200	exon8			AF017456	CCDS7770.1	11p15.4	2014-09-17	2004-12-09	2004-12-10	ENSG00000166340	ENSG00000166340			2073	protein-coding gene	gene with protein product	"""TPP I"""	607998	"""ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)"", ""spinocerebellar ataxia, autosomal recessive 7"""	CLN2, SCAR7		9653647, 23418007	Standard	NM_000391		Approved		uc001mel.1	O14773	OTTHUMG00000133404	ENST00000299427.6:c.1063C>T	11.37:g.6637558G>A	ENSP00000299427:p.Leu355Phe		6594134	NM_000391	Q71V64	Missense_Mutation	SNP	ENST00000299427.6	37	CCDS7770.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306394	0.81247	.	.	ENSG00000166340	ENST00000299427;ENST00000533371	D;D	0.87966	-2.32;-2.32	5.4	5.4	0.78164	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.063063	0.64402	D	0.000003	D	0.90314	0.6970	M	0.64170	1.965	0.80722	D	1	D	0.60575	0.988	P	0.55749	0.783	D	0.90033	0.4136	10	0.45353	T	0.12	-7.5764	16.3198	0.82945	0.0:0.0:1.0:0.0	.	355	O14773	TPP1_HUMAN	F	355;112	ENSP00000299427:L355F;ENSP00000437066:L112F	ENSP00000299427:L355F	L	-	1	0	TPP1	6594134	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.483000	0.81158	2.542000	0.85734	0.555000	0.69702	CTC		0.567	TPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257261.2		
OR6A2	8590	hgsc.bcm.edu	37	11	6816551	6816551	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:6816551G>A	ENST00000332601.3	-	1	577	c.389C>T	c.(388-390)gCc>gTc	p.A130V		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	130					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A130V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATAGCAGATGGCCATATAGCG	0.532																																					p.A130V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C389T	11						.						86.0	82.0	83.0					11																	6816551		2201	4296	6497	6773127	SO:0001583	missense	8590	exon1			AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"""GPCR / Class A : Olfactory receptors"""	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.389C>T	11.37:g.6816551G>A	ENSP00000330384:p.Ala130Val		6773127	NM_003696	Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	ENST00000332601.3	37	CCDS7772.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672965	0.88445	.	.	ENSG00000184933	ENST00000332601	T	0.01228	5.14	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000035	T	0.15003	0.0362	H	0.96015	3.755	0.52501	D	0.999951	D	0.89917	1.0	D	0.87578	0.998	T	0.01520	-1.1334	10	0.87932	D	0	.	16.3373	0.83068	0.0:0.0:1.0:0.0	.	130	O95222	OR6A2_HUMAN	V	130	ENSP00000330384:A130V	ENSP00000330384:A130V	A	-	2	0	OR6A2	6773127	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	9.362000	0.97126	2.807000	0.96579	0.655000	0.94253	GCC		0.532	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696	
OR10A6	390093	hgsc.bcm.edu	37	11	7949648	7949648	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:7949648C>T	ENST00000309838.2	-	1	561	c.562G>A	c.(562-564)Gca>Aca	p.A188T		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A188T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCTGCACATGCAAGTTCTAAC	0.368																																					p.A188T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G562A	11						.						50.0	47.0	48.0					11																	7949648		2201	4296	6497	7906224	SO:0001583	missense	390093	exon1			AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.562G>A	11.37:g.7949648C>T	ENSP00000312470:p.Ala188Thr		7906224	NM_001004461	Q6IF59	Missense_Mutation	SNP	ENST00000309838.2	37	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	C	6.020	0.372009	0.11409	.	.	ENSG00000175393	ENST00000309838	T	0.00193	8.58	4.43	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.824896	0.10064	N	0.720561	T	0.00178	0.0005	L	0.45581	1.43	0.09310	N	1	B	0.15473	0.013	B	0.20955	0.032	T	0.36672	-0.9738	10	0.62326	D	0.03	.	4.9106	0.13820	0.3074:0.5867:0.0:0.106	.	188	Q8NH74	O10A6_HUMAN	T	188	ENSP00000312470:A188T	ENSP00000312470:A188T	A	-	1	0	OR10A6	7906224	0.000000	0.05858	0.011000	0.14972	0.097000	0.18754	0.631000	0.24568	1.216000	0.43427	0.655000	0.94253	GCA		0.368	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461	
ST5	6764	hgsc.bcm.edu	37	11	8729383	8729383	+	Silent	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:8729383G>T	ENST00000534127.1	-	15	2756	c.2371C>A	c.(2371-2373)Cgg>Agg	p.R791R	ST5_ENST00000526757.1_Silent_p.R371R|ST5_ENST00000530438.1_Silent_p.R371R|ST5_ENST00000526099.1_Silent_p.R304R|ST5_ENST00000534278.1_Intron|ST5_ENST00000313726.6_Silent_p.R791R|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000357665.1_Silent_p.R791R|ST5_ENST00000530991.1_Silent_p.R263R	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	791	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R791R(1)|p.R791G(1)		NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TCTGGCAACCGGGGCCCTTTC	0.577																																					p.R791R												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|prostate(1)	c.C2371A	11						.						48.0	43.0	45.0					11																	8729383		2201	4296	6497	8685959	SO:0001819	synonymous_variant	6764	exon15			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.2371C>A	11.37:g.8729383G>T			8685959	NM_005418	B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Silent	SNP	ENST00000534127.1	37	CCDS7791.1																																																																																				0.577	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418	
AKIP1	56672	hgsc.bcm.edu	37	11	8933072	8933072	+	Missense_Mutation	SNP	C	C	A	rs142557297	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:8933072C>A	ENST00000309377.4	+	2	166	c.76C>A	c.(76-78)Cta>Ata	p.L26I	AKIP1_ENST00000529876.1_Missense_Mutation_p.L26I|AKIP1_ENST00000396648.2_Missense_Mutation_p.L26I|ST5_ENST00000534127.1_5'Flank|AKIP1_ENST00000534506.1_Missense_Mutation_p.L26I|AKIP1_ENST00000299576.5_Missense_Mutation_p.L26I|AKIP1_ENST00000309357.4_Missense_Mutation_p.L26I|AKIP1_ENST00000525005.1_Missense_Mutation_p.L26I|AKIP1_ENST00000534147.1_Missense_Mutation_p.L26I	NM_020642.3	NP_065693.2	Q9NQ31	AKIP1_HUMAN	A kinase (PRKA) interacting protein 1	26					substrate adhesion-dependent cell spreading (GO:0034446)	nucleus (GO:0005634)		p.L26I(1)		kidney(1)|large_intestine(2)|lung(2)	5						AAGGCTGGCTCTAGAAGTGCT	0.657																																					p.L26I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C76A	11						.						42.0	35.0	37.0					11																	8933072		2200	4296	6496	8889648	SO:0001583	missense	56672	exon2			AF512007	CCDS7793.1, CCDS55743.1, CCDS55744.1	11p15.3	2011-04-18	2011-04-18	2011-04-18	ENSG00000166452	ENSG00000166452			1170	protein-coding gene	gene with protein product		609191	"""chromosome 11 open reading frame 17"""	C11orf17		20562110, 18178962, 15630084	Standard	NM_020642		Approved	BCA3	uc001mgx.3	Q9NQ31	OTTHUMG00000165653	ENST00000309377.4:c.76C>A	11.37:g.8933072C>A	ENSP00000310459:p.Leu26Ile		8889648	NM_020642	Q8NBS2|Q8TAC6|Q8TAD3|Q8TAE0	Missense_Mutation	SNP	ENST00000309377.4	37	CCDS7793.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965146	0.34659	.	.	ENSG00000166452	ENST00000299576;ENST00000309377;ENST00000309357;ENST00000529876;ENST00000525005;ENST00000524577;ENST00000534506;ENST00000396648;ENST00000534147;ENST00000529942	T;T;T;T;T;T;T;T;T;T	0.34072	1.48;1.44;1.43;1.48;1.38;1.4;1.48;1.48;1.44;1.49	5.52	4.58	0.56647	.	0.623507	0.14703	N	0.303436	T	0.27169	0.0666	L	0.34521	1.04	0.09310	N	1	P;P;P;P;P	0.48694	0.531;0.914;0.61;0.744;0.787	B;B;B;B;B	0.38500	0.275;0.268;0.142;0.196;0.186	T	0.07102	-1.0790	10	0.44086	T	0.13	0.475	11.6113	0.51062	0.1848:0.8152:0.0:0.0	.	26;26;26;26;26	E9PN38;B4DGE2;Q9NQ31-2;Q9NQ31-3;Q9NQ31	.;.;.;.;AKIP1_HUMAN	I	26;26;26;26;26;26;26;26;26;21	ENSP00000299576:L26I;ENSP00000310459:L26I;ENSP00000310644:L26I;ENSP00000434726:L26I;ENSP00000433510:L26I;ENSP00000434785:L26I;ENSP00000434820:L26I;ENSP00000379885:L26I;ENSP00000431331:L26I;ENSP00000431602:L21I	ENSP00000299576:L26I	L	+	1	2	AKIP1	8889648	0.011000	0.17503	0.047000	0.18901	0.209000	0.24338	1.581000	0.36558	1.395000	0.46643	0.561000	0.74099	CTA		0.657	AKIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385615.1	NM_020642	
PLEKHA7	144100	hgsc.bcm.edu	37	11	16863100	16863100	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:16863100A>G	ENST00000355661.3	-	9	876	c.866T>C	c.(865-867)cTg>cCg	p.L289P	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.L289P|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.L289P|RN7SKP90_ENST00000363013.1_RNA			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	289					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)	p.L289P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TAACCTCTTCAGTGACGATCG	0.557																																					p.L289P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T866C	11						.						130.0	114.0	119.0					11																	16863100		2200	4294	6494	16819676	SO:0001583	missense	144100	exon9			BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.866T>C	11.37:g.16863100A>G	ENSP00000347883:p.Leu289Pro		16819676	NM_175058	B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.822312	0.32237	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.07567	3.19;3.18;3.18	5.08	5.08	0.68730	.	0.705657	0.13927	N	0.353150	T	0.08714	0.0216	L	0.44542	1.39	0.58432	D	0.999994	B;B	0.14012	0.009;0.001	B;B	0.11329	0.006;0.003	T	0.14531	-1.0469	10	0.33141	T	0.24	-20.1874	9.1818	0.37146	0.9184:0.0:0.0816:0.0	.	289;289	E9PKC0;Q6IQ23	.;PKHA7_HUMAN	P	289	ENSP00000435389:L289P;ENSP00000347883:L289P;ENSP00000416895:L289P	ENSP00000347883:L289P	L	-	2	0	PLEKHA7	16819676	0.787000	0.28750	0.966000	0.40874	0.931000	0.56810	5.336000	0.65935	2.271000	0.75665	0.533000	0.62120	CTG		0.557	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058	
KCNJ11	3767	hgsc.bcm.edu	37	11	17408960	17408960	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:17408960C>T	ENST00000339994.4	-	1	1246	c.679G>A	c.(679-681)Gag>Aag	p.E227K	KCNJ11_ENST00000526747.1_5'Flank|KCNJ11_ENST00000528731.1_Missense_Mutation_p.E140K	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	227					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.E227K(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	ACCTCGCCCTCGGGGCTGGTG	0.627											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E227K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G679A	11	GRCh37	CM071808	KCNJ11	M		.						79.0	66.0	71.0					11																	17408960		2200	4293	6493	17365536	SO:0001583	missense	3767	exon1			D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.679G>A	11.37:g.17408960C>T	ENSP00000345708:p.Glu227Lys	717	17365536	NM_000525	B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Missense_Mutation	SNP	ENST00000339994.4	37	CCDS31436.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917612	0.92249	.	.	ENSG00000187486	ENST00000339994;ENST00000528731;ENST00000526912	D;D;D	0.96651	-4.08;-4.08;-4.08	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.98563	0.9520	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99632	1.0986	10	0.87932	D	0	.	18.9203	0.92521	0.0:1.0:0.0:0.0	.	227	B2RC52	.	K	227;140;140	ENSP00000345708:E227K;ENSP00000434755:E140K;ENSP00000432729:E140K	ENSP00000345708:E227K	E	-	1	0	KCNJ11	17365536	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.467000	0.83353	0.561000	0.74099	GAG		0.627	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	NM_000525	
SERGEF	26297	hgsc.bcm.edu	37	11	18029507	18029507	+	Silent	SNP	G	G	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:18029507G>C	ENST00000265965.5	-	2	328	c.177C>G	c.(175-177)ggC>ggG	p.G59G	RP1-59M18.2_ENST00000525523.1_RNA|SERGEF_ENST00000532212.1_5'UTR|SERGEF_ENST00000532265.1_5'UTR|SERGEF_ENST00000528200.1_Silent_p.G59G	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	59					negative regulation of protein secretion (GO:0050709)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.G59G(1)		autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						CTGCAGAGTGGCCCCCTCCTC	0.473																																					p.G59G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C177G	11						.						86.0	80.0	82.0					11																	18029507		2200	4293	6493	17986083	SO:0001819	synonymous_variant	26297	exon2			AJ243950	CCDS7828.1	11p14.3	2006-03-09			ENSG00000129158	ENSG00000129158			17499	protein-coding gene	gene with protein product		606051				10571079, 12459492	Standard	NM_012139		Approved	DelGEF, Gnefr	uc001mnm.3	Q9UGK8	OTTHUMG00000166420	ENST00000265965.5:c.177C>G	11.37:g.18029507G>C			17986083	NM_012139	Q9UGK9	Silent	SNP	ENST00000265965.5	37	CCDS7828.1																																																																																				0.473	SERGEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389538.1	NM_012139	
TSG101	7251	hgsc.bcm.edu	37	11	18505531	18505531	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:18505531C>A	ENST00000251968.3	-	8	1144	c.729G>T	c.(727-729)aaG>aaT	p.K243N	TSG101_ENST00000357193.3_Missense_Mutation_p.K138N|TSG101_ENST00000536719.1_Missense_Mutation_p.K243N	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	243					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.K243N(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CCATTTCCTCCTTCATCCGCC	0.522																																					p.K243N	GBM(99;1348 1396 8611 26475 50572)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G729T	11						.						290.0	278.0	282.0					11																	18505531		2199	4293	6492	18462107	SO:0001583	missense	7251	exon8			U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.729G>T	11.37:g.18505531C>A	ENSP00000251968:p.Lys243Asn		18462107	NM_006292	Q9BUM5	Missense_Mutation	SNP	ENST00000251968.3	37	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116646	0.77323	.	.	ENSG00000074319	ENST00000536719;ENST00000251968;ENST00000357193	T;T;T	0.26810	1.71;1.71;1.71	5.59	3.39	0.38822	.	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	M	0.67953	2.075	0.49798	D	0.999828	B	0.31949	0.348	B	0.35278	0.199	T	0.08472	-1.0720	10	0.46703	T	0.11	-18.4791	9.4028	0.38442	0.0:0.728:0.0:0.272	.	243	Q99816	TS101_HUMAN	N	243;243;138	ENSP00000438471:K243N;ENSP00000251968:K243N;ENSP00000349721:K138N	ENSP00000251968:K243N	K	-	3	2	TSG101	18462107	0.826000	0.29277	1.000000	0.80357	0.998000	0.95712	-0.037000	0.12164	1.365000	0.46057	0.561000	0.74099	AAG		0.522	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292	
NAV2	89797	hgsc.bcm.edu	37	11	19914121	19914121	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:19914121G>A	ENST00000396087.3	+	7	1080	c.981G>A	c.(979-981)ccG>ccA	p.P327P	NAV2_ENST00000540292.1_Silent_p.P258P|NAV2_ENST00000349880.4_Silent_p.P304P|NAV2_ENST00000396085.1_Silent_p.P304P|NAV2_ENST00000527559.2_Silent_p.P256P|NAV2_ENST00000360655.4_Silent_p.P240P	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	327	Poly-Pro.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.P327P(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CACCCCCACCGCCAAGCAGCC	0.512																																					p.P240P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G720A	11						.						76.0	65.0	69.0					11																	19914121		2199	4293	6492	19870697	SO:0001819	synonymous_variant	89797	exon6			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.981G>A	11.37:g.19914121G>A			19870697	NM_001111018	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	CCDS58126.1																																																																																				0.512	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	
NAV2	89797	hgsc.bcm.edu	37	11	19970454	19970454	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:19970454G>A	ENST00000396087.3	+	11	2641	c.2542G>A	c.(2542-2544)Gcc>Acc	p.A848T	NAV2_ENST00000540292.1_Missense_Mutation_p.A779T|NAV2_ENST00000349880.4_Missense_Mutation_p.A825T|NAV2_ENST00000396085.1_Missense_Mutation_p.A825T|NAV2_ENST00000527559.2_Missense_Mutation_p.A777T|NAV2_ENST00000360655.4_Missense_Mutation_p.A761T	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	848					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.A848T(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGTGTACTCCGCCCCTCTGAG	0.597																																					p.A761T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2281A	11						.						87.0	83.0	84.0					11																	19970454		2199	4293	6492	19927030	SO:0001583	missense	89797	exon10			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2542G>A	11.37:g.19970454G>A	ENSP00000379396:p.Ala848Thr		19927030	NM_001111018	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115013	0.37339	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.27890	1.65;1.76;1.76;1.75;1.64;1.64	5.02	4.11	0.48088	.	0.093026	0.47093	N	0.000258	T	0.38081	0.1027	L	0.31065	0.9	0.80722	D	1	B;D	0.71674	0.376;0.998	B;P	0.61477	0.095;0.889	T	0.08229	-1.0732	9	.	.	.	.	13.6252	0.62159	0.0755:0.0:0.9244:0.0	.	825;761	Q8IVL1-3;Q8IVL1-4	.;.	T	761;825;825;848;777;779	ENSP00000353871:A761T;ENSP00000379394:A825T;ENSP00000309577:A825T;ENSP00000379396:A848T;ENSP00000435395:A777T;ENSP00000443489:A779T	.	A	+	1	0	NAV2	19927030	1.000000	0.71417	0.997000	0.53966	0.927000	0.56198	4.560000	0.60802	1.237000	0.43756	0.655000	0.94253	GCC		0.597	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	
TRAF6	7189	hgsc.bcm.edu	37	11	36512043	36512043	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:36512043C>T	ENST00000526995.1	-	7	1160	c.914G>A	c.(913-915)cGc>cAc	p.R305H	TRAF6_ENST00000529150.1_5'UTR|TRAF6_ENST00000348124.5_Missense_Mutation_p.R305H	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	305	Interaction with TAX1BP1.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R305H(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				TCTTACAAGGCGACCCTCTAA	0.463																																					p.R305H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G914A	11						.						137.0	128.0	131.0					11																	36512043		2202	4298	6500	36468619	SO:0001583	missense	7189	exon8				CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.914G>A	11.37:g.36512043C>T	ENSP00000433623:p.Arg305His		36468619	NM_145803	A6NKI7|A8KAB3|D3DR16|Q8NEH5	Missense_Mutation	SNP	ENST00000526995.1	37	CCDS7901.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897232	0.91962	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	D;D	0.82711	-1.64;-1.64	5.13	5.13	0.70059	.	0.095927	0.85682	D	0.000000	D	0.86879	0.6039	M	0.82716	2.605	0.80722	D	1	P	0.48162	0.906	P	0.45276	0.475	D	0.88546	0.3113	10	0.51188	T	0.08	-23.5402	18.9251	0.92541	0.0:1.0:0.0:0.0	.	305	Q9Y4K3	TRAF6_HUMAN	H	305	ENSP00000433623:R305H;ENSP00000337853:R305H	ENSP00000337853:R305H	R	-	2	0	TRAF6	36468619	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.955000	0.76007	2.540000	0.85666	0.555000	0.69702	CGC		0.463	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803	
ARFGAP2	84364	hgsc.bcm.edu	37	11	47193277	47193277	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:47193277C>A	ENST00000524782.1	-	9	975	c.747G>T	c.(745-747)caG>caT	p.Q249H	ARFGAP2_ENST00000419701.2_Missense_Mutation_p.Q142H|RP11-390K5.6_ENST00000524412.1_RNA|ARFGAP2_ENST00000319543.6_De_novo_Start_OutOfFrame|ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.Q113H	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	249	Required for interaction with coatomer.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.Q249H(1)		breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TCTCTGCCACCTGAGCCTGCC	0.617																																					p.Q249H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G747T	11						.						63.0	64.0	64.0					11																	47193277		2201	4299	6500	47149853	SO:0001583	missense	84364	exon9			AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"""ADP-ribosylation factor GTPase activating proteins"""	13504	protein-coding gene	gene with protein product		606908	"""zinc finger protein 289, ID1 regulated"""	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.747G>T	11.37:g.47193277C>A	ENSP00000434442:p.Gln249His		47149853	NM_032389	B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Missense_Mutation	SNP	ENST00000524782.1	37	CCDS7926.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289756	0.59976	.	.	ENSG00000149182	ENST00000426335;ENST00000524782;ENST00000419701;ENST00000527927;ENST00000525398	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	5.95	5.95	0.96441	.	0.098405	0.64402	D	0.000001	T	0.72993	0.3530	M	0.82823	2.61	0.80722	D	1	B;D;B	0.65815	0.122;0.995;0.042	B;D;B	0.71656	0.117;0.974;0.055	T	0.73560	-0.3944	10	0.54805	T	0.06	-23.8625	20.3932	0.98965	0.0:1.0:0.0:0.0	.	142;113;249	B4DX29;G5E9L0;Q8N6H7	.;.;ARFG2_HUMAN	H	113;249;142;113;263	ENSP00000400226:Q113H;ENSP00000434442:Q249H;ENSP00000389264:Q142H;ENSP00000434433:Q113H;ENSP00000431939:Q263H	ENSP00000389264:Q142H	Q	-	3	2	ARFGAP2	47149853	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.815000	0.48018	2.824000	0.97209	0.655000	0.94253	CAG		0.617	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391425.1	NM_032389	
PTPRJ	5795	hgsc.bcm.edu	37	11	48164531	48164531	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:48164531T>C	ENST00000418331.2	+	12	2856	c.2504T>C	c.(2503-2505)gTc>gCc	p.V835A		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	835	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.V835A(1)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TCAGTAAAGGTCAAGTTCAGT	0.458																																					p.V835A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2504C	11						.						106.0	95.0	99.0					11																	48164531		2201	4298	6499	48121107	SO:0001583	missense	5795	exon12			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.2504T>C	11.37:g.48164531T>C	ENSP00000400010:p.Val835Ala		48121107	NM_002843	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.297359	0.81025	.	.	ENSG00000149177	ENST00000418331	T	0.59772	0.24	5.82	5.82	0.92795	Fibronectin, type III (2);	.	.	.	.	T	0.57272	0.2042	L	0.32530	0.975	0.80722	D	1	D	0.53745	0.962	P	0.51866	0.682	T	0.61836	-0.6981	9	0.87932	D	0	.	12.5793	0.56381	0.0:0.0:0.0:1.0	.	835	Q12913	PTPRJ_HUMAN	A	835	ENSP00000400010:V835A	ENSP00000400010:V835A	V	+	2	0	PTPRJ	48121107	0.999000	0.42202	0.626000	0.29213	0.905000	0.53344	4.175000	0.58263	2.225000	0.72522	0.533000	0.62120	GTC		0.458	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1		
TNKS1BP1	85456	hgsc.bcm.edu	37	11	57087724	57087724	+	Missense_Mutation	SNP	C	C	T	rs371562715		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:57087724C>T	ENST00000532437.1	-	2	868	c.557G>A	c.(556-558)cGc>cAc	p.R186H	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.R186H			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	186	Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.R186H(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AAAGGTGAGGCGGGAACCCCA	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		15542	0.0		0.001	False		,,,				2504	0.0				p.R186H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G557A	11						.	C	HIS/ARG	0,4402		0,0,2201	60.0	64.0	62.0		557	4.5	1.0	11		62	1,8591	1.2+/-3.3	0,1,4295	no	missense	TNKS1BP1	NM_033396.2	29	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	186/1730	57087724	1,12993	2201	4296	6497	56844300	SO:0001583	missense	85456	exon3			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.557G>A	11.37:g.57087724C>T	ENSP00000437271:p.Arg186His		56844300	NM_033396	A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258282	0.80246	0.0	1.16E-4	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.57107	0.42;0.42	4.47	4.47	0.54385	.	0.000000	0.33938	N	0.004413	T	0.57814	0.2079	N	0.24115	0.695	0.29641	N	0.844744	D	0.89917	1.0	D	0.85130	0.997	T	0.57579	-0.7787	10	0.72032	D	0.01	-14.7469	12.5151	0.56028	0.0:1.0:0.0:0.0	.	186	Q9C0C2	TB182_HUMAN	H	186	ENSP00000350990:R186H;ENSP00000437271:R186H	ENSP00000350990:R186H	R	-	2	0	TNKS1BP1	56844300	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	3.568000	0.53820	2.284000	0.76573	0.462000	0.41574	CGC		0.642	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396	
SLC43A3	29015	hgsc.bcm.edu	37	11	57185284	57185284	+	Missense_Mutation	SNP	C	C	T	rs188327992	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:57185284C>T	ENST00000395123.2	-	8	912	c.608G>A	c.(607-609)cGc>cAc	p.R203H	SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000533524.1_Missense_Mutation_p.R216H|SLC43A3_ENST00000395124.1_Missense_Mutation_p.R203H|SLC43A3_ENST00000529554.1_Missense_Mutation_p.R203H|SLC43A3_ENST00000352187.1_Missense_Mutation_p.R203H	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	203					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.R203H(2)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						GAGGAAAGTGCGTGCTACATG	0.542													C|||	3	0.000599042	0.0	0.0043	5008	,	,		19328	0.0		0.0	False		,,,				2504	0.0				p.R203H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G608A	11						.	C	HIS/ARG,HIS/ARG,HIS/ARG	0,4402		0,0,2201	108.0	97.0	101.0		608,608,608	5.5	0.1	11		101	3,8589	3.0+/-9.4	0,3,4293	yes	missense,missense,missense	SLC43A3	NM_014096.2,NM_017611.2,NM_199329.1	29,29,29	0,3,6494	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging	203/492,203/492,203/492	57185284	3,12991	2201	4296	6497	56941860	SO:0001583	missense	29015	exon8			AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.608G>A	11.37:g.57185284C>T	ENSP00000378555:p.Arg203His		56941860	NM_199329	B4DNR8|E7EQD2|Q9NSS4	Missense_Mutation	SNP	ENST00000395123.2	37	CCDS7956.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	25.3	4.622672	0.87460	0.0	3.49E-4	ENSG00000134802	ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524;ENST00000530005	T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;0.32	5.48	5.48	0.80851	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.89413	0.6708	M	0.83483	2.645	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.996;0.998;0.996	D	0.86539	0.1827	10	0.15066	T	0.55	-17.5211	17.1335	0.86733	0.0:1.0:0.0:0.0	.	203;216;203;203	B4DV87;E7EQD2;Q8NBI5;A8K2X6	.;.;S43A3_HUMAN;.	H	203;203;203;203;216;203	ENSP00000378555:R203H;ENSP00000378556:R203H;ENSP00000337561:R203H;ENSP00000436254:R203H;ENSP00000434515:R216H;ENSP00000435893:R203H	ENSP00000337561:R203H	R	-	2	0	SLC43A3	56941860	1.000000	0.71417	0.118000	0.21660	0.627000	0.37826	6.766000	0.74970	2.586000	0.87340	0.462000	0.41574	CGC		0.542	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611	
TMX2	51075	hgsc.bcm.edu	37	11	57505832	57505832	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:57505832T>C	ENST00000278422.4	+	4	383	c.371T>C	c.(370-372)cTg>cCg	p.L124P	TMX2_ENST00000378312.4_Missense_Mutation_p.L86P|TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000534355.1_5'Flank	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	124	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)		p.L124P(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TTAGTGTTCCTGATGACGTGC	0.408																																					p.L124P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T371C	11						.						217.0	200.0	205.0					11																	57505832		2201	4296	6497	57262408	SO:0001583	missense	51075	exon4			AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.371T>C	11.37:g.57505832T>C	ENSP00000278422:p.Leu124Pro		57262408	NM_015959	B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Missense_Mutation	SNP	ENST00000278422.4	37	CCDS7967.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.315555	0.81469	.	.	ENSG00000213593	ENST00000378312;ENST00000278422	T	0.52057	0.68	6.17	6.17	0.99709	Thioredoxin-like fold (1);	0.087529	0.47852	U	0.000207	T	0.64811	0.2632	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.996	D;P	0.71656	0.974;0.851	T	0.61758	-0.6997	10	0.36615	T	0.2	-15.6374	16.4837	0.84171	0.0:0.0:0.0:1.0	.	86;124	Q9Y320-2;Q9Y320	.;TMX2_HUMAN	P	86;124	ENSP00000367562:L86P	ENSP00000278422:L124P	L	+	2	0	TMX2	57262408	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.698000	0.84413	2.371000	0.80710	0.533000	0.62120	CTG		0.408	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959	
OR5B3	441608	hgsc.bcm.edu	37	11	58170592	58170592	+	Silent	SNP	A	A	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:58170592A>T	ENST00000309403.2	-	1	290	c.291T>A	c.(289-291)gcT>gcA	p.A97A		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A97A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TATACATTTGAGCAGCACATG	0.448																																					p.A97A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T291A	11						.						132.0	122.0	125.0					11																	58170592		2201	4295	6496	57927168	SO:0001819	synonymous_variant	441608	exon1			AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.291T>A	11.37:g.58170592A>T			57927168	NM_001005469	Q6IEV6	Silent	SNP	ENST00000309403.2	37	CCDS31549.1																																																																																				0.448	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469	
GLYAT	10249	hgsc.bcm.edu	37	11	58477413	58477413	+	Silent	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:58477413G>T	ENST00000344743.3	-	6	858	c.717C>A	c.(715-717)ctC>ctA	p.L239L	GLYAT_ENST00000529732.1_Silent_p.L239L	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	239					acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)	p.L239L(1)		NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CAAGGCCATGGAGCCGGTATT	0.537																																					p.L239L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C717A	11						.						66.0	62.0	64.0					11																	58477413		2201	4295	6496	58233989	SO:0001819	synonymous_variant	10249	exon6			AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.717C>A	11.37:g.58477413G>T			58233989	NM_201648	O14833|Q96QK7	Silent	SNP	ENST00000344743.3	37	CCDS7970.1																																																																																				0.537	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394593.1		
SLC15A3	51296	hgsc.bcm.edu	37	11	60706959	60706959	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:60706959G>A	ENST00000227880.3	-	6	1661	c.1428C>T	c.(1426-1428)agC>agT	p.S476S		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	476					ion transport (GO:0006811)|peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	symporter activity (GO:0015293)	p.S476S(1)		central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						TACCTGGGATGCTGGCAAAGA	0.617																																					p.S476S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1428T	11						.						121.0	88.0	99.0					11																	60706959		2203	4299	6502	60463535	SO:0001819	synonymous_variant	51296	exon6			AB020598	CCDS7998.1	11q12.2	2013-07-18	2013-07-18		ENSG00000110446	ENSG00000110446		"""Solute carriers"""	18068	protein-coding gene	gene with protein product		610408	"""solute carrier family 15, member 3"""			11336635, 11741232	Standard	NM_016582		Approved	PHT2, hPTR3	uc001nqn.2	Q8IY34	OTTHUMG00000167804	ENST00000227880.3:c.1428C>T	11.37:g.60706959G>A			60463535	NM_016582	Q9P2X9	Silent	SNP	ENST00000227880.3	37	CCDS7998.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359662	0.41801	.	.	ENSG00000110446	ENST00000537307	.	.	.	4.62	3.71	0.42584	.	.	.	.	.	T	0.64864	0.2637	.	.	.	0.80722	D	1	D	0.59767	0.986	P	0.56474	0.799	T	0.64719	-0.6341	6	.	.	.	-44.0927	8.5108	0.33215	0.1807:0.0:0.8193:0.0	.	420	F5H1C8	.	V	142	.	.	A	-	2	0	SLC15A3	60463535	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.561000	0.53770	1.311000	0.45024	0.561000	0.74099	GCA		0.617	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396366.1	NM_016582	
DDB1	1642	hgsc.bcm.edu	37	11	61091584	61091584	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:61091584C>T	ENST00000301764.7	-	7	1185	c.788G>A	c.(787-789)cGa>cAa	p.R263Q	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	263	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.R263Q(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						AGGGTCCACTCGATTGTGGCA	0.498								Nucleotide excision repair (NER)																													p.R263Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G788A	11						.						136.0	137.0	137.0					11																	61091584		2203	4299	6502	60848160	SO:0001583	missense	1642	exon7			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.788G>A	11.37:g.61091584C>T	ENSP00000301764:p.Arg263Gln		60848160	NM_001923	A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262793	0.80358	.	.	ENSG00000167986	ENST00000301764;ENST00000535174;ENST00000541513	T;T;T	0.50277	0.75;0.75;0.75	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.34308	0.0893	N	0.20986	0.625	0.80722	D	1	B;B;B	0.29766	0.256;0.201;0.187	B;B;B	0.24006	0.022;0.023;0.05	T	0.15665	-1.0429	10	0.10377	T	0.69	-11.7168	19.8965	0.96963	0.0:1.0:0.0:0.0	.	263;263;263	F5GY55;B7Z2A1;Q16531	.;.;DDB1_HUMAN	Q	263;46;78	ENSP00000301764:R263Q;ENSP00000446044:R46Q;ENSP00000442660:R78Q	ENSP00000301764:R263Q	R	-	2	0	DDB1	60848160	1.000000	0.71417	0.895000	0.35142	0.995000	0.86356	7.818000	0.86416	2.717000	0.92951	0.655000	0.94253	CGA		0.498	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923	
PPP1R32	220004	hgsc.bcm.edu	37	11	61253359	61253359	+	Silent	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:61253359C>A	ENST00000338608.2	+	7	788	c.663C>A	c.(661-663)ccC>ccA	p.P221P	PPP1R32_ENST00000432063.2_Silent_p.P221P|PPP1R32_ENST00000366212.4_5'Flank	NM_145017.2	NP_659454.2	Q7Z5V6	PPR32_HUMAN	protein phosphatase 1, regulatory subunit 32	221							phosphatase binding (GO:0019902)	p.P221P(1)									TCCAACCGCCCTCACAGGCCC	0.547																																					p.P221P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C663A	11						.						57.0	58.0	57.0					11																	61253359		2202	4299	6501	61009935	SO:0001819	synonymous_variant	220004	exon7			AK057333	CCDS8008.1, CCDS53641.1	11q12.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000162148	ENSG00000162148		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28869	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 66"""	C11orf66		12477932	Standard	NM_145017		Approved	IIIG9, FLJ32771	uc001nru.2	Q7Z5V6	OTTHUMG00000168176	ENST00000338608.2:c.663C>A	11.37:g.61253359C>A			61009935	NM_145017	Q4G0P4|Q96M77	Silent	SNP	ENST00000338608.2	37	CCDS8008.1																																																																																				0.547	PPP1R32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398621.1	NM_145017	
SYT7	9066	hgsc.bcm.edu	37	11	61290608	61290608	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:61290608G>A	ENST00000263846.4	-	8	1373	c.1046C>T	c.(1045-1047)aCg>aTg	p.T349M	SYT7_ENST00000535826.1_Missense_Mutation_p.T468M|SYT7_ENST00000540831.1_5'Flank|SYT7_ENST00000540677.1_Missense_Mutation_p.T424M|SYT7_ENST00000542670.1_Missense_Mutation_p.T557M|SYT7_ENST00000539008.1_Missense_Mutation_p.T632M|SYT7_ENST00000542836.1_Missense_Mutation_p.T393M	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	349	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.T349M(2)		kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GATGATGGTCGTCTCCCTCAG	0.567																																					p.T349M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1046T	11						.						290.0	226.0	248.0					11																	61290608		2202	4299	6501	61047184	SO:0001583	missense	9066	exon8			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.1046C>T	11.37:g.61290608G>A	ENSP00000263846:p.Thr349Met		61047184	NM_004200	F5GZU9|Q08AH6	Missense_Mutation	SNP	ENST00000263846.4	37	CCDS31577.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126586	0.77549	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826	T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	4.64	4.64	0.57946	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.85682	D	0.000000	T	0.75989	0.3925	L	0.28608	0.87	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67725	0.921;0.953	T	0.77213	-0.2670	10	0.48119	T	0.1	.	18.1087	0.89528	0.0:0.0:1.0:0.0	.	424;349	F5GZU9;O43581	.;SYT7_HUMAN	M	349;424;632;393;557;468	ENSP00000263846:T349M;ENSP00000444201:T424M;ENSP00000439694:T632M;ENSP00000444568:T393M;ENSP00000444019:T557M;ENSP00000437720:T468M	ENSP00000263846:T349M	T	-	2	0	SYT7	61047184	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	4.829000	0.62737	2.583000	0.87209	0.561000	0.74099	ACG		0.567	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200	
RAB3IL1	5866	hgsc.bcm.edu	37	11	61673992	61673992	+	Silent	SNP	G	G	A	rs138431466	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:61673992G>A	ENST00000394836.2	-	5	760	c.603C>T	c.(601-603)ccC>ccT	p.P201P	RAB3IL1_ENST00000301773.5_Intron	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	201					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.P201P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						GACACACGGCGGGGCAGAGGG	0.701																																					p.P201P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C603T	11						.	G		2,4338		0,2,2168	22.0	20.0	21.0		603	-9.5	0.0	11	dbSNP_134	21	1,8513		0,1,4256	no	coding-synonymous	RAB3IL1	NM_013401.2		0,3,6424	AA,AG,GG		0.0117,0.0461,0.0233		201/383	61673992	3,12851	2170	4257	6427	61430568	SO:0001819	synonymous_variant	5866	exon5			AF084557	CCDS8014.1, CCDS60809.1	11q12.2	2008-02-01			ENSG00000167994	ENSG00000167994			9780	protein-coding gene	gene with protein product							Standard	NM_013401		Approved		uc001nso.4	Q8TBN0	OTTHUMG00000167524	ENST00000394836.2:c.603C>T	11.37:g.61673992G>A			61430568	NM_013401	Q86V32|Q9P1Q8	Silent	SNP	ENST00000394836.2	37	CCDS8014.1																																																																																				0.701	RAB3IL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394917.1	NM_013401	
GANAB	23193	hgsc.bcm.edu	37	11	62394105	62394105	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:62394105G>A	ENST00000356638.3	-	21	2465	c.2449C>T	c.(2449-2451)Cgg>Tgg	p.R817W	GANAB_ENST00000534779.1_Missense_Mutation_p.R725W|GANAB_ENST00000540933.1_Missense_Mutation_p.R720W|GANAB_ENST00000346178.4_Missense_Mutation_p.R839W	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	817					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)	p.R817W(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	GAAGACCGCCGCACTCGCATC	0.547																																					p.R839W	Melanoma(23;1005 1074 15747 18937)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2515T	11						.						67.0	54.0	58.0					11																	62394105		2202	4299	6501	62150681	SO:0001583	missense	23193	exon22			AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.2449C>T	11.37:g.62394105G>A	ENSP00000349053:p.Arg817Trp		62150681	NM_198335	A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509241	0.64522	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.90004	-2.55;-2.52;-2.6;-2.55	4.58	2.46	0.29980	.	0.000000	0.85682	D	0.000000	D	0.95063	0.8401	M	0.94101	3.495	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.993;0.997	D	0.95002	0.8144	10	0.72032	D	0.01	-22.4822	10.8936	0.47010	0.0:0.0:0.6385:0.3615	.	703;725;817;839	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	W	839;817;725;720	ENSP00000340466:R839W;ENSP00000349053:R817W;ENSP00000435306:R725W;ENSP00000442962:R720W	ENSP00000340466:R839W	R	-	1	2	GANAB	62150681	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	2.117000	0.41939	1.073000	0.40885	0.563000	0.77884	CGG		0.547	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334	
SF1	7536	hgsc.bcm.edu	37	11	64536547	64536547	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:64536547C>T	ENST00000377390.3	-	8	1171	c.834G>A	c.(832-834)gtG>gtA	p.V278V	SF1_ENST00000377387.1_Silent_p.V403V|SF1_ENST00000227503.9_Silent_p.V278V|SF1_ENST00000422298.2_Silent_p.V163V|SF1_ENST00000377394.3_Silent_p.V278V|SF1_ENST00000433274.2_Silent_p.V252V|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000334944.5_Silent_p.V278V	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	278					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.V278V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						ACTTGGTACACACTGTGGTGT	0.512																																					p.V278V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G834A	11						.						157.0	160.0	159.0					11																	64536547		2201	4297	6498	64293123	SO:0001819	synonymous_variant	7536	exon8			D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.834G>A	11.37:g.64536547C>T			64293123	NM_201998	B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Silent	SNP	ENST00000377390.3	37	CCDS31599.1																																																																																				0.512	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630	
DPF2	5977	hgsc.bcm.edu	37	11	65113774	65113774	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:65113774C>A	ENST00000528416.1	+	9	1094	c.961C>A	c.(961-963)Cgc>Agc	p.R321S	DPF2_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Missense_Mutation_p.R335S	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	321					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)	p.R321S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						GAAGACATACCGCTGGCAGTG	0.567																																					p.R321S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C961A	11						.						155.0	116.0	129.0					11																	65113774		2201	4297	6498	64870350	SO:0001583	missense	5977	exon9			U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.961C>A	11.37:g.65113774C>A	ENSP00000436901:p.Arg321Ser		64870350	NM_006268	A8K7C9|B4DT58	Missense_Mutation	SNP	ENST00000528416.1	37	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075081	0.76415	.	.	ENSG00000133884	ENST00000528416;ENST00000252268	D;D	0.86627	-2.15;-2.15	5.62	5.62	0.85841	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (2);	0.000000	0.38381	N	0.001707	D	0.87577	0.6212	L	0.41710	1.295	0.80722	D	1	P	0.47409	0.895	P	0.50791	0.65	D	0.87717	0.2570	10	0.51188	T	0.08	-20.6648	17.1512	0.86778	0.0:1.0:0.0:0.0	.	321	Q92785	REQU_HUMAN	S	321;335	ENSP00000436901:R321S;ENSP00000252268:R335S	ENSP00000252268:R335S	R	+	1	0	DPF2	64870350	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.703000	0.84585	2.667000	0.90743	0.561000	0.74099	CGC		0.567	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268	
SNX32	254122	hgsc.bcm.edu	37	11	65618270	65618270	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:65618270A>G	ENST00000308342.6	+	6	972	c.547A>G	c.(547-549)Agg>Ggg	p.R183G		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	183					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)	p.R183G(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		AGGGTTTCTGAGGAATATTGT	0.592																																					p.R183G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A547G	11						.						59.0	58.0	58.0					11																	65618270		2201	4297	6498	65374846	SO:0001583	missense	254122	exon6			AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"""Sorting nexins"""	26423	protein-coding gene	gene with protein product			"""sorting nexin 6B"""	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.547A>G	11.37:g.65618270A>G	ENSP00000310620:p.Arg183Gly		65374846	NM_152760	Q8IW53|Q96NG4	Missense_Mutation	SNP	ENST00000308342.6	37	CCDS8113.2	.	.	.	.	.	.	.	.	.	.	A	15.15	2.747013	0.49257	.	.	ENSG00000172803	ENST00000308342	T	0.18174	2.23	4.91	3.78	0.43462	.	0.397041	0.23866	N	0.043793	T	0.14313	0.0346	L	0.29908	0.895	0.34483	D	0.704091	B	0.26708	0.157	B	0.31614	0.133	T	0.13845	-1.0494	10	0.72032	D	0.01	-28.6074	10.193	0.43039	0.8324:0.1676:0.0:0.0	.	183	Q86XE0	SNX32_HUMAN	G	183	ENSP00000310620:R183G	ENSP00000310620:R183G	R	+	1	2	SNX32	65374846	1.000000	0.71417	0.849000	0.33467	0.712000	0.41017	4.333000	0.59285	0.903000	0.36546	-0.375000	0.07067	AGG		0.592	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760	
PACS1	55690	hgsc.bcm.edu	37	11	66003410	66003410	+	Splice_Site	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:66003410G>A	ENST00000320580.4	+	19	2282	c.2249G>A	c.(2248-2250)gGc>gAc	p.G750D	PACS1_ENST00000529757.1_Splice_Site_p.G286D	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	750					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)	p.G750D(1)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CCCTTCATTGGCGTGAGTACT	0.502																																					p.G750D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2249A	11						.						191.0	172.0	178.0					11																	66003410		2200	4295	6495	65759986	SO:0001630	splice_region_variant	55690	exon19			AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.2250+1G>A	11.37:g.66003410G>A			65759986	NM_018026	Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	G	32	5.154465	0.94686	.	.	ENSG00000175115	ENST00000320580;ENST00000529757	T;T	0.51325	0.71;0.71	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.68915	0.3053	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.71800	-0.4483	10	0.62326	D	0.03	-29.2788	17.3595	0.87346	0.0:0.0:1.0:0.0	.	750	Q6VY07	PACS1_HUMAN	D	750;286	ENSP00000316454:G750D;ENSP00000432858:G286D	ENSP00000316454:G750D	G	+	2	0	PACS1	65759986	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.547000	0.98100	2.619000	0.88677	0.655000	0.94253	GGC		0.502	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026	Missense_Mutation
TPCN2	219931	hgsc.bcm.edu	37	11	68825058	68825058	+	Missense_Mutation	SNP	G	G	A	rs148360443		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:68825058G>A	ENST00000294309.3	+	5	543	c.442G>A	c.(442-444)Ggg>Agg	p.G148R	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.G148R	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	148					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)	p.G148R(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTACCTGTTCGGGTGGGCCCA	0.617																																					p.G148R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G442A	11						.	G	ARG/GLY	2,4398	4.2+/-10.8	0,2,2198	172.0	131.0	145.0		442	4.5	0.6	11	dbSNP_134	145	0,8588		0,0,4294	no	missense	TPCN2	NM_139075.3	125	0,2,6492	AA,AG,GG		0.0,0.0455,0.0154	probably-damaging	148/753	68825058	2,12986	2200	4294	6494	68581634	SO:0001583	missense	219931	exon5			AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.442G>A	11.37:g.68825058G>A	ENSP00000294309:p.Gly148Arg		68581634	NM_139075	Q9NT82	Missense_Mutation	SNP	ENST00000294309.3	37	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791741	0.70452	4.55E-4	0.0	ENSG00000162341	ENST00000356782;ENST00000294309;ENST00000535009;ENST00000542467	D;D	0.97665	-4.48;-4.48	4.46	4.46	0.54185	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98626	0.9540	M	0.90082	3.085	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.99814	1.1043	10	0.87932	D	0	-25.3982	15.8839	0.79226	0.0:0.0:1.0:0.0	.	148;148;63	E7ETX0;Q8NHX9;F5H1G5	.;TPC2_HUMAN;.	R	78;148;63;148	ENSP00000294309:G148R;ENSP00000445551:G148R	ENSP00000294309:G148R	G	+	1	0	TPCN2	68581634	1.000000	0.71417	0.568000	0.28447	0.720000	0.41350	6.902000	0.75699	2.037000	0.60232	0.462000	0.41574	GGG		0.617	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075	
FGF3	2248	hgsc.bcm.edu	37	11	69631158	69631158	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:69631158A>G	ENST00000334134.2	-	2	344	c.254T>C	c.(253-255)aTt>aCt	p.I85T		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	85					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)	p.I85T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			GATGGCCACAATGCCCACCTC	0.632																																					p.I85T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T254C	11						.						142.0	121.0	128.0					11																	69631158		2200	4294	6494	69340095	SO:0001583	missense	2248	exon2				CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"""INT-2 proto-oncogene protein"", ""oncogene INT2"", ""V-INT2 murine mammary tumor virus integration site oncogene homolog"", ""murine mammary tumor virus integration site 2, mouse"""	164950	"""fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"""	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.254T>C	11.37:g.69631158A>G	ENSP00000334122:p.Ile85Thr		69340095	NM_005247	Q0VG69	Missense_Mutation	SNP	ENST00000334134.2	37	CCDS8195.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.374296	0.82573	.	.	ENSG00000186895	ENST00000334134	T	0.66638	-0.22	4.83	4.83	0.62350	.	0.285294	0.34200	N	0.004169	T	0.62109	0.2401	L	0.29908	0.895	0.45403	D	0.998384	P	0.48834	0.916	P	0.49085	0.6	T	0.61008	-0.7149	9	.	.	.	.	14.4164	0.67153	1.0:0.0:0.0:0.0	.	85	P11487	FGF3_HUMAN	T	85	ENSP00000334122:I85T	.	I	-	2	0	FGF3	69340095	0.994000	0.37717	0.747000	0.31113	0.985000	0.73830	8.770000	0.91746	1.810000	0.52873	0.454000	0.30748	ATT		0.632	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396835.1	NM_005247	
INPPL1	3636	hgsc.bcm.edu	37	11	71942192	71942192	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:71942192C>T	ENST00000298229.2	+	12	1660	c.1456C>T	c.(1456-1458)Cgc>Tgc	p.R486C	INPPL1_ENST00000538751.1_Missense_Mutation_p.R244C|INPPL1_ENST00000541756.1_Missense_Mutation_p.R244C	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	486					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)	p.R486C(2)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GGACCTACTGCGCGGGGGCCT	0.602																																					p.R486C												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C1456T	11						.						119.0	129.0	125.0					11																	71942192		2198	4293	6491	71619840	SO:0001583	missense	3636	exon12			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1456C>T	11.37:g.71942192C>T	ENSP00000298229:p.Arg486Cys		71619840	NM_001567	B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	c	24.2	4.501201	0.85176	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	T;T;T	0.81247	-1.47;-1.47;-1.47	5.81	5.81	0.92471	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.91566	0.7336	M	0.88377	2.95	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	D	0.92504	0.6011	10	0.87932	D	0	.	18.6606	0.91470	0.0:1.0:0.0:0.0	.	486	O15357	SHIP2_HUMAN	C	486;244;244	ENSP00000298229:R486C;ENSP00000446360:R244C;ENSP00000444619:R244C	ENSP00000298229:R486C	R	+	1	0	INPPL1	71619840	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.584000	0.60971	2.746000	0.94184	0.655000	0.94253	CGC		0.602	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567	
PAAF1	80227	hgsc.bcm.edu	37	11	73611329	73611329	+	Silent	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:73611329A>G	ENST00000310571.3	+	6	449	c.396A>G	c.(394-396)ggA>ggG	p.G132G	PAAF1_ENST00000376384.5_Silent_p.G115G|PAAF1_ENST00000541951.1_Silent_p.G17G|PAAF1_ENST00000536003.1_Silent_p.G115G|PAAF1_ENST00000543079.1_Intron|PAAF1_ENST00000544909.1_Silent_p.G133G|PAAF1_ENST00000535604.1_Silent_p.G17G|PAAF1_ENST00000544552.1_Silent_p.G115G	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	132					viral process (GO:0016032)	proteasome complex (GO:0000502)		p.G132G(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					TATTGGAAGGACATGTGTTTG	0.448																																					p.G132G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A396G	11						.						255.0	230.0	238.0					11																	73611329		2200	4293	6493	73288977	SO:0001819	synonymous_variant	80227	exon6			BC006142	CCDS8226.1, CCDS58157.1, CCDS58158.1	11q13.4	2013-05-21	2007-08-16	2007-08-16	ENSG00000175575	ENSG00000175575		"""WD repeat domain containing"""	25687	protein-coding gene	gene with protein product			"""WD repeat domain 71"""	WDR71		15831487, 17317272, 17289585	Standard	NM_001267803		Approved	FLJ11848, Rpn14	uc001ouk.2	Q9BRP4	OTTHUMG00000168062	ENST00000310571.3:c.396A>G	11.37:g.73611329A>G			73288977	NM_025155	A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Silent	SNP	ENST00000310571.3	37	CCDS8226.1																																																																																				0.448	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397885.1	NM_025155	
CHRDL2	25884	hgsc.bcm.edu	37	11	74415610	74415610	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:74415610G>A	ENST00000376332.3	-	7	1168	c.672C>T	c.(670-672)agC>agT	p.S224S	CHRDL2_ENST00000263671.5_Silent_p.S224S|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	224					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.S224S(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GAGGGATGAAGCTCAGAGGGG	0.592																																					p.S224S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C672T	11						.						62.0	60.0	61.0					11																	74415610		2200	4293	6493	74093258	SO:0001819	synonymous_variant	25884	exon7			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.672C>T	11.37:g.74415610G>A			74093258	NM_015424	A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Silent	SNP	ENST00000376332.3	37		.	.	.	.	.	.	.	.	.	.	G	10.69	1.420604	0.25639	.	.	ENSG00000054938	ENST00000525413	.	.	.	5.39	3.53	0.40419	.	.	.	.	.	T	0.59390	0.2190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54200	-0.8329	4	.	.	.	-9.3245	9.6236	0.39737	0.1695:0.0:0.8305:0.0	.	.	.	.	V	24	.	.	A	-	2	0	CHRDL2	74093258	0.996000	0.38824	1.000000	0.80357	0.972000	0.66771	0.453000	0.21811	0.656000	0.30886	0.462000	0.41574	GCT		0.592	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1		
SLCO2B1	11309	hgsc.bcm.edu	37	11	74876905	74876905	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:74876905A>G	ENST00000289575.5	+	4	754	c.359A>G	c.(358-360)tAt>tGt	p.Y120C	SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.Y98C|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000525650.1_Intron|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.Y4C|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.Y4C|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.Y4C	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	120					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.Y120C(1)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	ATGATTGGCTATGGGGCTATC	0.572																																					p.Y120C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A359G	11						.						151.0	149.0	149.0					11																	74876905		2200	4293	6493	74554553	SO:0001583	missense	11309	exon4			AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.359A>G	11.37:g.74876905A>G	ENSP00000289575:p.Tyr120Cys		74554553	NM_007256	A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	A	1.615	-0.523050	0.04141	.	.	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000454962;ENST00000527180;ENST00000534186;ENST00000428359	T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15	4.24	-5.13	0.02884	Major facilitator superfamily domain, general substrate transporter (1);	0.467487	0.22625	N	0.057658	T	0.10252	0.0251	N	0.02802	-0.49	0.19775	N	0.999955	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.27971	-1.0058	9	.	.	.	.	6.567	0.22517	0.448:0.0:0.4303:0.1217	.	4;120	O94956-2;O94956	.;SO2B1_HUMAN	C	120;4;4;4;98;98;98	ENSP00000289575:Y120C;ENSP00000341286:Y4C;ENSP00000434112:Y4C;ENSP00000389653:Y4C;ENSP00000436513:Y98C;ENSP00000433872:Y98C;ENSP00000388912:Y98C	.	Y	+	2	0	SLCO2B1	74554553	0.001000	0.12720	0.981000	0.43875	0.431000	0.31685	-0.277000	0.08502	-0.723000	0.04915	-0.400000	0.06385	TAT		0.572	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256	
VPS26B	112936	hgsc.bcm.edu	37	11	134113185	134113185	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr11:134113185C>T	ENST00000281187.5	+	4	1196	c.718C>T	c.(718-720)Cga>Tga	p.R240*	VPS26B_ENST00000525095.2_Nonsense_Mutation_p.R240*	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	240					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)		p.R240*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		GGCACCAGTGCGAGGTGAGAC	0.537																																					p.R240X	Colon(171;1263 1952 15904 45703 47982)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C718T	11						.						72.0	57.0	62.0					11																	134113185		2201	4297	6498	133618395	SO:0001587	stop_gained	112936	exon4				CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"""vacuolar protein sorting 26 homolog B (yeast)"""			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.718C>T	11.37:g.134113185C>T	ENSP00000281187:p.Arg240*		133618395	NM_052875	Q96A55	Nonsense_Mutation	SNP	ENST00000281187.5	37	CCDS8495.1	.	.	.	.	.	.	.	.	.	.	C	39	7.291122	0.98189	.	.	ENSG00000151502	ENST00000281187;ENST00000525095	.	.	.	4.97	0.284	0.15701	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6048	14.7103	0.69225	0.5:0.5:0.0:0.0	.	.	.	.	X	240;239	.	ENSP00000281187:R240X	R	+	1	2	VPS26B	133618395	1.000000	0.71417	0.940000	0.37924	0.822000	0.46500	2.780000	0.47742	-0.094000	0.12374	-0.152000	0.13540	CGA		0.537	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393591.1	NM_052875	
AIM1	202	hgsc.bcm.edu	37	6	106968377	106968377	+	Silent	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:106968377A>G	ENST00000369066.3	+	2	2557	c.2070A>G	c.(2068-2070)gtA>gtG	p.V690V		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.V690V(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ATGATAGTGTATTTGATTCTT	0.413																																					p.V690V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2070G	6						.						50.0	54.0	53.0					6																	106968377		2203	4300	6503	107075070	SO:0001819	synonymous_variant	202	exon2			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2070A>G	6.37:g.106968377A>G			107075070	NM_001624	Q6P2P0|Q9BTM3	Silent	SNP	ENST00000369066.3	37	CCDS34506.1																																																																																				0.413	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1		
TUBE1	51175	hgsc.bcm.edu	37	6	112393121	112393121	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:112393121C>A	ENST00000368662.5	-	11	1331	c.1253G>T	c.(1252-1254)aGg>aTg	p.R418M	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	418					centrosome cycle (GO:0007098)|protein polymerization (GO:0051258)	microtubule (GO:0005874)|pericentriolar material (GO:0000242)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R418K(1)|p.R418M(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	Vinblastine(DB00570)	CTTGTAGAGCCTCATGAATCT	0.348																																					p.R418M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1253T	6						.						76.0	78.0	77.0					6																	112393121		2203	4300	6503	112499814	SO:0001583	missense	51175	exon11			AF201334	CCDS5100.1	6q21	2005-11-03			ENSG00000074935	ENSG00000074935		"""Tubulins"""	20775	protein-coding gene	gene with protein product		607345				10620804	Standard	NM_016262		Approved	dJ142L7.2, FLJ22589, TUBE	uc003pvq.3	Q9UJT0	OTTHUMG00000015382	ENST00000368662.5:c.1253G>T	6.37:g.112393121C>A	ENSP00000357651:p.Arg418Met		112499814	NM_016262	Q5H8W8|Q8NEG3	Missense_Mutation	SNP	ENST00000368662.5	37	CCDS5100.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091154	0.36855	.	.	ENSG00000074935	ENST00000368662	T	0.78924	-1.22	5.84	5.84	0.93424	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.047323	0.85682	D	0.000000	T	0.55577	0.1929	L	0.35593	1.075	0.80722	D	1	B	0.15930	0.015	B	0.25884	0.064	T	0.61088	-0.7133	10	0.87932	D	0	.	7.3496	0.26682	0.1693:0.7441:0.0:0.0867	.	418	Q9UJT0	TBE_HUMAN	M	418	ENSP00000357651:R418M	ENSP00000357651:R418M	R	-	2	0	TUBE1	112499814	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	1.022000	0.30052	2.751000	0.94390	0.655000	0.94253	AGG		0.348	TUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041867.1	NM_016262	
SMPDL3A	10924	hgsc.bcm.edu	37	6	123130386	123130386	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:123130386G>A	ENST00000368440.4	+	8	1372	c.1195G>A	c.(1195-1197)Gac>Aac	p.D399N	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.D268N	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	399					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.D399N(1)		breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		TACAATCCTAGACAGTAAGCA	0.373																																					p.D399N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1195A	6						.						83.0	86.0	85.0					6																	123130386		2203	4300	6503	123172085	SO:0001583	missense	10924	exon8			AK000184	CCDS5128.1, CCDS69190.1	6q22.32	2006-04-12			ENSG00000172594	ENSG00000172594			17389	protein-coding gene	gene with protein product	"""acid sphingomyelinase-like phosphodiesterase 3a"""	610728				12442002	Standard	XM_005266798		Approved	FLJ20177, ASM3A, ASML3a, yR36GH4.1	uc003pzg.3	Q92484	OTTHUMG00000015490	ENST00000368440.4:c.1195G>A	6.37:g.123130386G>A	ENSP00000357425:p.Asp399Asn		123172085	NM_006714	B7Z729|Q8WV13	Missense_Mutation	SNP	ENST00000368440.4	37	CCDS5128.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931244	0.34096	.	.	ENSG00000172594	ENST00000368440;ENST00000539041	D;D	0.91180	-2.8;-2.8	5.92	4.13	0.48395	.	0.417866	0.30781	N	0.008898	T	0.77948	0.4207	L	0.58810	1.83	0.09310	N	0.999999	B	0.24823	0.112	B	0.19666	0.026	T	0.64980	-0.6279	10	0.21014	T	0.42	-3.6449	11.0436	0.47846	0.0707:0.2998:0.6295:0.0	.	399	Q92484	ASM3A_HUMAN	N	399;268	ENSP00000357425:D399N;ENSP00000442152:D268N	ENSP00000357425:D399N	D	+	1	0	SMPDL3A	123172085	0.999000	0.42202	0.146000	0.22360	0.739000	0.42172	3.498000	0.53302	0.821000	0.34540	0.561000	0.74099	GAC		0.373	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042039.1	NM_006714	
TPD52L1	7164	hgsc.bcm.edu	37	6	125569502	125569502	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:125569502C>T	ENST00000534000.1	+	4	655	c.359C>T	c.(358-360)gCc>gTc	p.A120V	TPD52L1_ENST00000368388.2_Missense_Mutation_p.A120V|TPD52L1_ENST00000528193.1_Missense_Mutation_p.A120V|TPD52L1_ENST00000392482.2_Missense_Mutation_p.A91V|TPD52L1_ENST00000304877.13_Missense_Mutation_p.A120V|TPD52L1_ENST00000530868.1_3'UTR|TPD52L1_ENST00000532429.1_Missense_Mutation_p.A91V|TPD52L1_ENST00000527711.1_Missense_Mutation_p.A120V|HDDC2_ENST00000608456.1_Intron|TPD52L1_ENST00000368402.5_Missense_Mutation_p.A120V|TPD52L1_ENST00000534199.1_Missense_Mutation_p.A91V|TPD52L1_ENST00000524679.1_Missense_Mutation_p.A91V	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	120					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.A120V(1)		endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		GTTGGAACGGCCATCAGCAAG	0.478																																					p.A91V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C272T	6						.						133.0	109.0	117.0					6																	125569502		2203	4300	6503	125611201	SO:0001583	missense	7164	exon4			U44427	CCDS5130.1, CCDS34527.1, CCDS34528.1, CCDS43502.1, CCDS75513.1, CCDS75514.1	6q22-q23	2008-07-29			ENSG00000111907	ENSG00000111907			12006	protein-coding gene	gene with protein product		604069				8812487, 16112108	Standard	NM_003287		Approved	D53, hD53	uc003pzu.1	Q16890	OTTHUMG00000015505	ENST00000534000.1:c.359C>T	6.37:g.125569502C>T	ENSP00000434142:p.Ala120Val		125611201	NM_001003395	A8K757|A8K772|A8MUD2|A8MUJ7|A8MW70|F6V707|O43397|Q5TC99|Q5TDQ0|Q9BUQ6|Q9C054	Missense_Mutation	SNP	ENST00000534000.1	37	CCDS5130.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873251	0.51695	.	.	ENSG00000111907	ENST00000534368;ENST00000304877;ENST00000534000;ENST00000368402;ENST00000368388;ENST00000527711;ENST00000528193;ENST00000532429;ENST00000534199;ENST00000392482;ENST00000524679;ENST00000392484	T;T;T;T;T;T;T;T;T;T;T	0.24723	1.84;1.84;1.95;1.95;1.84;1.84;1.95;1.84;1.84;1.84;1.84	5.58	5.58	0.84498	.	0.048397	0.85682	D	0.000000	T	0.11153	0.0272	L	0.44542	1.39	0.54753	D	0.999987	B;B;B;B	0.25351	0.124;0.015;0.015;0.046	B;B;B;B	0.28465	0.09;0.028;0.011;0.04	T	0.04400	-1.0954	10	0.11485	T	0.65	-13.7495	13.8293	0.63370	0.0:0.9257:0.0:0.0743	.	120;120;120;120	E9PPQ1;Q16890-3;Q16890-2;Q16890	.;.;.;TPD53_HUMAN	V	91;120;120;120;120;120;120;91;91;91;91;120	ENSP00000432806:A91V;ENSP00000306285:A120V;ENSP00000434142:A120V;ENSP00000357387:A120V;ENSP00000357373:A120V;ENSP00000436953:A120V;ENSP00000434743:A120V;ENSP00000435447:A91V;ENSP00000432590:A91V;ENSP00000376273:A91V;ENSP00000432787:A91V	ENSP00000306285:A120V	A	+	2	0	TPD52L1	125611201	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.656000	0.54467	2.779000	0.95612	0.650000	0.86243	GCC		0.478	TPD52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042065.2		
LAMA2	3908	hgsc.bcm.edu	37	6	129636970	129636970	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:129636970T>G	ENST00000421865.2	+	26	3848	c.3799T>G	c.(3799-3801)Ttc>Gtc	p.F1267V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1267	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				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.F1267V(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)		AGAAACAGGTTTCTCTACATA	0.423																																					p.F1267V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3799G	6						.						109.0	110.0	110.0					6																	129636970		2203	4300	6503	129678663	SO:0001583	missense	3908	exon26			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.3799T>G	6.37:g.129636970T>G	ENSP00000400365:p.Phe1267Val		129678663	NM_001079823	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	T	3.892	-0.023760	0.07634	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.34667	1.35	5.55	4.37	0.52481	Laminin B type IV (2);Laminin B, subgroup (1);	0.169277	0.53938	N	0.000042	T	0.12646	0.0307	L	0.57536	1.79	0.41254	D	0.986731	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.10497	-1.0627	10	0.08381	T	0.77	.	7.4517	0.27242	0.0:0.0713:0.1447:0.7839	.	1267;1267	A6NF00;P24043	.;LAMA2_HUMAN	V	1267	ENSP00000400365:F1267V	ENSP00000346769:F1267V	F	+	1	0	LAMA2	129678663	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	3.618000	0.54188	1.004000	0.39156	0.533000	0.62120	TTC		0.423	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
EPB41L2	2037	hgsc.bcm.edu	37	6	131190924	131190924	+	Missense_Mutation	SNP	C	C	T	rs200766051		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:131190924C>T	ENST00000337057.3	-	15	2567	c.2386G>A	c.(2386-2388)Gaa>Aaa	p.E796K	EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.E796K|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000527411.1_Missense_Mutation_p.E726K|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000529208.1_Missense_Mutation_p.E726K|EPB41L2_ENST00000524581.1_Missense_Mutation_p.E174K	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	796					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)	p.E796K(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GGGCTGGCTTCGGGCACTGCT	0.552																																					p.E796K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2386A	6						.						204.0	203.0	203.0					6																	131190924		2203	4300	6503	131232617	SO:0001583	missense	2037	exon15			AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2386G>A	6.37:g.131190924C>T	ENSP00000338481:p.Glu796Lys		131232617	NM_001431	B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	CCDS5141.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.56|11.56	1.675910|1.675910	0.29783|0.29783	.|.	.|.	ENSG00000079819|ENSG00000079819	ENST00000337057;ENST00000257986;ENST00000368128;ENST00000527411;ENST00000524581;ENST00000529208;ENST00000527423|ENST00000456097	D;D;D;T;D;T|.	0.84070|.	-1.69;-1.69;-1.8;-1.13;-1.8;1.93|.	5.6|5.6	3.82|3.82	0.43975|0.43975	.|.	3.503560|.	0.00843|.	N|.	0.001764|.	T|T	0.20414|0.20414	0.0491|0.0491	L|L	0.38531|0.38531	1.155|1.155	0.26007|0.26007	N|N	0.982034|0.982034	D;B;B|.	0.54772|.	0.968;0.443;0.024|.	B;B;B|.	0.40636|.	0.335;0.035;0.006|.	T|T	0.15178|0.15178	-1.0446|-1.0446	10|5	0.59425|.	D|.	0.04|.	.|.	11.4133|11.4133	0.49937|0.49937	0.0:0.8054:0.1264:0.0682|0.0:0.8054:0.1264:0.0682	.|.	193;796;174|.	E9PCC2;O43491;Q6R5J7|.	.;E41L2_HUMAN;.|.	K|Q	796;193;796;726;174;726;195|338	ENSP00000338481:E796K;ENSP00000357110:E796K;ENSP00000436348:E726K;ENSP00000437207:E174K;ENSP00000436641:E726K;ENSP00000437295:E195K|.	ENSP00000257986:E193K|.	E|R	-|-	1|2	0|0	EPB41L2|EPB41L2	131232617|131232617	0.995000|0.995000	0.38212|0.38212	0.861000|0.861000	0.33841|0.33841	0.994000|0.994000	0.84299|0.84299	3.199000|3.199000	0.51043|0.51043	0.722000|0.722000	0.32252|0.32252	0.462000|0.462000	0.41574|0.41574	GAA|CGA		0.552	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3		
EPB41L2	2037	hgsc.bcm.edu	37	6	131199258	131199258	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:131199258G>T	ENST00000337057.3	-	14	2210	c.2029C>A	c.(2029-2031)Cta>Ata	p.L677I	EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000530757.1_Missense_Mutation_p.L76I|EPB41L2_ENST00000368128.2_Missense_Mutation_p.L677I|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.L55I	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	677					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)	p.L677I(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TGTGTCTGTAGGGACAGAGGT	0.428																																					p.L677I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2029A	6						.						192.0	175.0	181.0					6																	131199258		2203	4300	6503	131240951	SO:0001583	missense	2037	exon14			AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2029C>A	6.37:g.131199258G>T	ENSP00000338481:p.Leu677Ile		131240951	NM_001431	B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	CCDS5141.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.95|13.95	2.389246|2.389246	0.42410|0.42410	.|.	.|.	ENSG00000079819|ENSG00000079819	ENST00000337057;ENST00000257986;ENST00000530757;ENST00000368128;ENST00000524581;ENST00000527017;ENST00000527423;ENST00000525198|ENST00000456097	D;T;D;T;T|.	0.84146|.	-1.81;-1.16;-1.81;-1.32;1.85|.	5.89|5.89	5.01|5.01	0.66863|0.66863	SAB (1);|.	0.657058|.	0.15808|.	N|.	0.243640|.	T|T	0.17874|0.17874	0.0429|0.0429	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D;B;P|.	0.67145|.	0.996;0.381;0.58|.	D;B;B|.	0.68192|.	0.956;0.184;0.272|.	T|T	0.10314|0.10314	-1.0635|-1.0635	10|5	0.28530|.	T|.	0.3|.	.|.	9.1158|9.1158	0.36758|0.36758	0.0741:0.0:0.7797:0.1462|0.0741:0.0:0.7797:0.1462	.|.	22;677;55|.	E9PCC2;O43491;Q6R5J7|.	.;E41L2_HUMAN;.|.	I|H	677;22;76;677;55;55;76;55|167	ENSP00000338481:L677I;ENSP00000436349:L76I;ENSP00000357110:L677I;ENSP00000437207:L55I;ENSP00000437295:L76I|.	ENSP00000257986:L22I|.	L|P	-|-	1|2	2|0	EPB41L2|EPB41L2	131240951|131240951	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.750000|0.750000	0.42670|0.42670	5.870000|5.870000	0.69620|0.69620	1.468000|1.468000	0.48064|0.48064	0.655000|0.655000	0.94253|0.94253	CTA|CCT		0.428	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3		
MOXD1	26002	hgsc.bcm.edu	37	6	132695875	132695875	+	Silent	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:132695875A>G	ENST00000367963.3	-	2	424	c.306T>C	c.(304-306)gcT>gcC	p.A102A	MOXD1_ENST00000336749.3_Silent_p.A34A	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	102	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)	p.A102A(1)|p.A34A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		AATCTTGCTGAGCATCTTTTT	0.323																																					p.A102A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T306C	6						.						176.0	166.0	169.0					6																	132695875		2203	4299	6502	132737568	SO:0001819	synonymous_variant	26002	exon2			AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.306T>C	6.37:g.132695875A>G			132737568	NM_015529	Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Silent	SNP	ENST00000367963.3	37	CCDS5152.2																																																																																				0.323	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529	
VNN1	8876	hgsc.bcm.edu	37	6	133015194	133015194	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:133015194G>A	ENST00000367928.4	-	3	482	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	157	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)	p.R157C(1)		NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TATTGGTAACGGCCATCAGGG	0.423																																					p.R157C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C469T	6						.						171.0	156.0	161.0					6																	133015194		2203	4300	6503	133056887	SO:0001583	missense	8876	exon3			AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"""Vanins"""	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.469C>T	6.37:g.133015194G>A	ENSP00000356905:p.Arg157Cys		133056887	NM_004666	A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	ENST00000367928.4	37	CCDS5159.1	.	.	.	.	.	.	.	.	.	.	G	9.481	1.098106	0.20552	.	.	ENSG00000112299	ENST00000367928	D	0.86030	-2.06	6.07	1.62	0.23740	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.336386	0.29348	N	0.012407	T	0.79511	0.4458	M	0.91510	3.215	0.19300	N	0.999977	B	0.23650	0.089	B	0.30782	0.12	T	0.74928	-0.3497	10	0.49607	T	0.09	-12.9737	8.0936	0.30816	0.2183:0.0:0.6673:0.1144	.	157	O95497	VNN1_HUMAN	C	157	ENSP00000356905:R157C	ENSP00000356905:R157C	R	-	1	0	VNN1	133056887	0.147000	0.22687	0.894000	0.35097	0.126000	0.20510	2.139000	0.42149	0.393000	0.25203	-0.145000	0.13849	CGT		0.423	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1		
LATS1	9113	hgsc.bcm.edu	37	6	150001190	150001190	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:150001190G>A	ENST00000543571.1	-	5	2961	c.2414C>T	c.(2413-2415)gCa>gTa	p.A805V	LATS1_ENST00000253339.5_Missense_Mutation_p.A805V|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.A805V(1)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GTAGAATCGTGCCAGACTTTC	0.348																																					p.A805V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2414T	6						.						124.0	123.0	123.0					6																	150001190		2203	4300	6503	150042883	SO:0001583	missense	9113	exon5			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2414C>T	6.37:g.150001190G>A	ENSP00000437550:p.Ala805Val		150042883	NM_004690		Missense_Mutation	SNP	ENST00000543571.1	37	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933818	0.92458	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.65732	-0.17;-0.17	5.5	5.5	0.81552	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	0.56097	D	0.000029	T	0.59183	0.2175	N	0.16478	0.41	0.80722	D	1	D	0.60160	0.987	D	0.72075	0.976	T	0.57751	-0.7757	9	.	.	.	.	19.7653	0.96337	0.0:0.0:1.0:0.0	.	805	O95835	LATS1_HUMAN	V	805	ENSP00000437550:A805V;ENSP00000253339:A805V	.	A	-	2	0	LATS1	150042883	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.730000	0.93505	0.563000	0.77884	GCA		0.348	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690	
NUP43	348995	hgsc.bcm.edu	37	6	150063595	150063595	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:150063595C>T	ENST00000340413.2	-	4	509	c.433G>A	c.(433-435)Gtt>Att	p.V145I	NUP43_ENST00000367404.4_Missense_Mutation_p.V145I|NUP43_ENST00000460354.2_Missense_Mutation_p.V145I|NUP43_ENST00000463048.3_5'Flank|NUP43_ENST00000367403.3_Missense_Mutation_p.V206I	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	145					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|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)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)		p.V145I(1)		breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		CCAACTGTAACGATTTCTGGG	0.493																																					p.V145I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G433A	6						.						218.0	200.0	206.0					6																	150063595		2203	4300	6503	150105288	SO:0001583	missense	348995	exon4			AF514997	CCDS5218.1	6q25.1	2013-01-10			ENSG00000120253	ENSG00000120253		"""WD repeat domain containing"""	21182	protein-coding gene	gene with protein product		608141				12196509	Standard	XM_005266961		Approved	bA350J20.1, FLJ13287	uc003qmz.3	Q8NFH3	OTTHUMG00000015795	ENST00000340413.2:c.433G>A	6.37:g.150063595C>T	ENSP00000342262:p.Val145Ile		150105288	NM_198887	B4E2F0|Q9H8S0	Missense_Mutation	SNP	ENST00000340413.2	37	CCDS5218.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988809	0.53934	.	.	ENSG00000120253	ENST00000340413;ENST00000460354;ENST00000367403;ENST00000367404;ENST00000543637	T;T;T;T;T	0.71222	-0.12;-0.12;-0.55;-0.55;-0.55	5.12	5.12	0.69794	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.120747	0.56097	D	0.000035	T	0.48114	0.1482	L	0.59436	1.845	0.58432	D	0.999993	B;P	0.36990	0.135;0.577	B;B	0.26094	0.042;0.066	T	0.52734	-0.8536	10	0.21540	T	0.41	-14.2846	14.3147	0.66440	0.149:0.851:0.0:0.0	.	145;145	B4E2F0;Q8NFH3	.;NUP43_HUMAN	I	145;145;206;145;152	ENSP00000342262:V145I;ENSP00000432401:V145I;ENSP00000356373:V206I;ENSP00000356374:V145I;ENSP00000438031:V152I	ENSP00000342262:V145I	V	-	1	0	NUP43	150105288	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.481000	0.66826	2.385000	0.81259	0.650000	0.86243	GTT		0.493	NUP43-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396947.1	NM_198887	
ULBP1	80329	hgsc.bcm.edu	37	6	150291231	150291231	+	Silent	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:150291231C>A	ENST00000229708.3	+	4	748	c.705C>A	c.(703-705)atC>atA	p.I235I		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	235					antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)	p.I235I(1)		large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		TTCTCATCATCTTCCTCTGCT	0.542																																					p.I235I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C705A	6						.						169.0	133.0	145.0					6																	150291231		2203	4300	6503	150332924	SO:0001819	synonymous_variant	80329	exon4			AF304377	CCDS5223.1	6q25	2003-04-29			ENSG00000111981	ENSG00000111981			14893	protein-coding gene	gene with protein product		605697				11239445, 11827464	Standard	XM_005267151		Approved	RAET1I	uc003qnp.3	Q9BZM6	OTTHUMG00000015810	ENST00000229708.3:c.705C>A	6.37:g.150291231C>A			150332924	NM_025218	Q5VY81|Q8IZW3|Q8IZX6	Silent	SNP	ENST00000229708.3	37	CCDS5223.1																																																																																				0.542	ULBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042677.2		
SYNE1	23345	hgsc.bcm.edu	37	6	152763217	152763217	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:152763217C>T	ENST00000367255.5	-	31	4602	c.4001G>A	c.(4000-4002)cGc>cAc	p.R1334H	SYNE1_ENST00000413186.2_Missense_Mutation_p.R1334H|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1400H|SYNE1_ENST00000367248.3_Missense_Mutation_p.R1324H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1334H|SYNE1_ENST00000367253.4_Missense_Mutation_p.R1334H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1341H|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1341H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1334					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.R1334H(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)		TACCTGGATGCGGCGTTCCTG	0.617										HNSCC(10;0.0054)																											p.R1341H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4022A	6						.						56.0	59.0	58.0					6																	152763217		2203	4300	6503	152804910	SO:0001583	missense	23345	exon31			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.4001G>A	6.37:g.152763217C>T	ENSP00000356224:p.Arg1334His		152804910	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	13.68	2.309408	0.40895	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.87887	0.67;0.68;0.58;0.68;0.77;-2.17;-2.31;-2.31	5.19	5.19	0.71726	.	0.115400	0.40064	N	0.001192	T	0.63745	0.2537	L	0.27053	0.805	0.28951	N	0.890386	B;B;B;B;B;B	0.22211	0.048;0.017;0.016;0.066;0.017;0.066	B;B;B;B;B;B	0.16722	0.004;0.004;0.006;0.016;0.004;0.006	T	0.50466	-0.8825	10	0.30854	T	0.27	.	7.083	0.25241	0.0:0.7879:0.0:0.2121	.	1317;1334;1324;1334;1334;1341	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	H	1334;1341;1334;1341;1400;1334;1324;1334	ENSP00000356224:R1334H;ENSP00000396024:R1341H;ENSP00000265368:R1334H;ENSP00000390975:R1341H;ENSP00000341887:R1400H;ENSP00000356222:R1334H;ENSP00000356217:R1324H;ENSP00000414510:R1334H	ENSP00000265368:R1334H	R	-	2	0	SYNE1	152804910	0.999000	0.42202	1.000000	0.80357	0.972000	0.66771	3.464000	0.53057	2.576000	0.86940	0.650000	0.86243	CGC		0.617	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
FBXO5	26271	hgsc.bcm.edu	37	6	153296116	153296116	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:153296116G>A	ENST00000229758.3	-	2	802	c.744C>T	c.(742-744)agC>agT	p.S248S	FBXO5_ENST00000477822.1_5'Flank|FBXO5_ENST00000367241.3_Silent_p.S202S	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	248					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibition of mitotic anaphase-promoting complex activity (GO:0060565)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|negative regulation of meiosis (GO:0045835)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|oocyte maturation (GO:0001556)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly involved in female meiosis I (GO:0007057)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.S248S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		GAAAGAGTTCGCTGAGAATAT	0.373																																					p.S248S	NSCLC(121;372 1757 17721 17977 29669)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C744T	6						.						117.0	120.0	119.0					6																	153296116		2203	4300	6503	153337809	SO:0001819	synonymous_variant	26271	exon2			AF129535	CCDS5242.1, CCDS47501.1	6q25-q26	2008-02-05	2004-06-15		ENSG00000112029	ENSG00000112029		"""F-boxes /  ""other"""""	13584	protein-coding gene	gene with protein product		606013	"""F-box only protein 5"""			10531035, 10531037	Standard	NM_012177		Approved	FBX5, Fbxo31, EMI1	uc003qpg.3	Q9UKT4	OTTHUMG00000015854	ENST00000229758.3:c.744C>T	6.37:g.153296116G>A			153337809	NM_012177	B3KNX5|Q5TF47|Q8WV29|Q9UGC8	Silent	SNP	ENST00000229758.3	37	CCDS5242.1																																																																																				0.373	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042757.1		
IGF2R	3482	hgsc.bcm.edu	37	6	160454090	160454090	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Visver			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:160454090G>A	ENST00000356956.1	+	9	1310	c.1162G>A	c.(1162-1164)Gat>Aat	p.D388N		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	388					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.D388N(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	GAAAAAGAGCGATACCTCTCA	0.378																																					p.D388N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1162A	6						.						96.0	90.0	92.0					6																	160454090		2203	4300	6503	160374080	SO:0001583	missense	3482	exon9			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1162G>A	6.37:g.160454090G>A	ENSP00000349437:p.Asp388Asn		160374080	NM_000876	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	7.294	0.611692	0.14066	.	.	ENSG00000197081	ENST00000356956	T	0.03717	3.83	4.67	0.415	0.16411	Mannose-6-phosphate receptor, binding (1);	1.822700	0.02536	N	0.094115	T	0.01320	0.0043	L	0.54323	1.7	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49579	-0.8925	10	0.13108	T	0.6	-13.0937	7.5418	0.27742	0.1885:0.1397:0.6718:0.0	.	388	P11717	MPRI_HUMAN	N	388	ENSP00000349437:D388N	ENSP00000349437:D388N	D	+	1	0	IGF2R	160374080	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.080000	0.14802	0.136000	0.18733	-1.300000	0.01332	GAT		0.378	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876	
PLG	5340	hgsc.bcm.edu	37	6	161137732	161137732	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:161137732C>T	ENST00000308192.9	+	7	787	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	242	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R242W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TAGGGAGCTGCGGCCTTGGTG	0.478																																					p.R242W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C724T	6						.						67.0	63.0	64.0					6																	161137732		2203	4300	6503	161057722	SO:0001583	missense	5340	exon7			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.724C>T	6.37:g.161137732C>T	ENSP00000308938:p.Arg242Trp		161057722	NM_000301	Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389232	0.42410	.	.	ENSG00000122194	ENST00000308192	T	0.64438	-0.1	5.26	2.39	0.29439	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	0.221335	0.22588	U	0.058135	T	0.78978	0.4369	H	0.97783	4.075	0.22213	N	0.999288	D	0.89917	1.0	D	0.76575	0.988	T	0.72899	-0.4152	10	0.66056	D	0.02	.	9.6395	0.39831	0.4042:0.4651:0.1307:0.0	.	242	P00747	PLMN_HUMAN	W	242	ENSP00000308938:R242W	ENSP00000308938:R242W	R	+	1	2	PLG	161057722	0.798000	0.28890	0.017000	0.16124	0.486000	0.33341	1.566000	0.36396	0.252000	0.21531	0.563000	0.77884	CGG		0.478	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301	
MAP3K4	4216	hgsc.bcm.edu	37	6	161527661	161527661	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:161527661G>A	ENST00000392142.4	+	20	4120	c.3972G>A	c.(3970-3972)acG>acA	p.T1324T	MAP3K4_ENST00000366920.2_Silent_p.T1320T|MAP3K4_ENST00000348824.7_Silent_p.T1270T|MAP3K4_ENST00000366919.2_Silent_p.T1274T	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1324					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.T1323T(1)|p.T1324T(1)		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)		TTTGTGATACGCCTAAGTCCT	0.403																																					p.T1274T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G3822A	6						.						176.0	161.0	166.0					6																	161527661		2203	4300	6503	161447651	SO:0001819	synonymous_variant	4216	exon19			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.3972G>A	6.37:g.161527661G>A			161447651	NM_006724	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	ENST00000392142.4	37	CCDS34565.1																																																																																				0.403	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3		
MAP3K4	4216	hgsc.bcm.edu	37	6	161533802	161533802	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:161533802G>C	ENST00000392142.4	+	25	4770	c.4622G>C	c.(4621-4623)gGc>gCc	p.G1541A	MAP3K4_ENST00000366920.2_Missense_Mutation_p.G1537A|MAP3K4_ENST00000348824.7_Missense_Mutation_p.G1487A|MAP3K4_ENST00000366919.2_Missense_Mutation_p.G1491A	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1541	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.G1540A(1)|p.G1541A(1)		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)		ATGGTGACTGGCAAGGTAAGC	0.517																																					p.G1491A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4472C	6						.						103.0	97.0	99.0					6																	161533802		2203	4300	6503	161453792	SO:0001583	missense	4216	exon24			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.4622G>C	6.37:g.161533802G>C	ENSP00000375986:p.Gly1541Ala		161453792	NM_006724	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012581	0.93346	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.56	5.56	0.83823	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	0.64983	0.2648	M	0.84219	2.685	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.995;0.999;1.0	T	0.69807	-0.5045	10	0.87932	D	0	-33.0951	19.534	0.95242	0.0:0.0:1.0:0.0	.	1537;477;1491;1541	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	A	1491;1541;1491;1537;1487	ENSP00000355886:G1491A;ENSP00000375986:G1541A;ENSP00000355887:G1537A;ENSP00000297332:G1487A	ENSP00000297332:G1487A	G	+	2	0	MAP3K4	161453792	1.000000	0.71417	0.995000	0.50966	0.799000	0.45148	9.650000	0.98490	2.613000	0.88420	0.655000	0.94253	GGC		0.517	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3		
T	6862	hgsc.bcm.edu	37	6	166580295	166580295	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:166580295C>T	ENST00000296946.2	-	3	724	c.256G>A	c.(256-258)Gcc>Acc	p.A86T	T_ENST00000366871.3_Missense_Mutation_p.A86T	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	86					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A86T(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GAGTACATGGCGTTGGGGTCC	0.657									Chordoma, Familial Clustering of																												p.A86T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G256A	6						.						69.0	59.0	62.0					6																	166580295		2203	4300	6503	166500285	SO:0001583	missense	6862	exon3	Familial Cancer Database		AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.256G>A	6.37:g.166580295C>T	ENSP00000296946:p.Ala86Thr		166500285	NM_003181	E7ERD6|Q4KMP4	Missense_Mutation	SNP	ENST00000296946.2	37	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063940	0.93898	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D;D	0.88586	-2.4;-2.4;-2.4	4.62	4.62	0.57501	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.92341	0.7570	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.80764	0.994;0.934;0.934	D	0.91082	0.4900	10	0.34782	T	0.22	.	16.8408	0.85968	0.0:1.0:0.0:0.0	.	86;86;86	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	T	86	ENSP00000355841:A86T;ENSP00000296946:A86T;ENSP00000355836:A86T	ENSP00000296946:A86T	A	-	1	0	T	166500285	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.891000	0.75639	2.290000	0.77057	0.655000	0.94253	GCC		0.657	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181	
RPS6KA2	6196	hgsc.bcm.edu	37	6	166836799	166836799	+	Missense_Mutation	SNP	G	G	A	rs538021247		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:166836799G>A	ENST00000265678.4	-	17	1911	c.1688C>T	c.(1687-1689)gCg>gTg	p.A563V	RPS6KA2_ENST00000481261.2_Missense_Mutation_p.A474V|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.A588V|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.A571V|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.A474V	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	563	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|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 cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)	p.A571V(1)|p.A563V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CCCGTTCCCCGCGCGCAGCTG	0.612																																					p.A563V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1688T	6						.						57.0	54.0	55.0					6																	166836799		2203	4300	6503	166756789	SO:0001583	missense	6196	exon17			L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1688C>T	6.37:g.166836799G>A	ENSP00000265678:p.Ala563Val		166756789	NM_021135	B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586585	0.86851	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	3.87	3.87	0.44632	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.121702	0.56097	D	0.000037	T	0.58764	0.2145	N	0.21617	0.685	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.76071	0.966;0.91;0.987	T	0.65076	-0.6256	10	0.52906	T	0.07	.	14.9868	0.71353	0.0:0.0:1.0:0.0	.	588;571;563	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	V	563;588;571;474;474	ENSP00000265678:A563V;ENSP00000422435:A588V;ENSP00000427015:A571V;ENSP00000422484:A474V;ENSP00000386050:A474V	ENSP00000265678:A563V	A	-	2	0	RPS6KA2	166756789	1.000000	0.71417	0.548000	0.28192	0.897000	0.52465	8.966000	0.93397	2.005000	0.58758	0.462000	0.41574	GCG		0.612	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135	
MLLT4	4301	hgsc.bcm.edu	37	6	168298980	168298980	+	Silent	SNP	C	C	T	rs149965087		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:168298980C>T	ENST00000447894.2	+	11	1413	c.1413C>T	c.(1411-1413)taC>taT	p.Y471Y	MLLT4_ENST00000392108.3_Silent_p.Y471Y|MLLT4_ENST00000392112.1_Silent_p.Y455Y|MLLT4_ENST00000366806.2_Silent_p.Y471Y|MLLT4_ENST00000351017.4_Silent_p.Y471Y|MLLT4_ENST00000400822.3_Silent_p.Y470Y|MLLT4_ENST00000344191.4_Silent_p.Y471Y			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	471	FHA.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.Y455Y(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CAGAAACCTACGTGGAAGGCC	0.532			T	MLL	AL								C|||	1	0.000199681	0.0	0.0	5008	,	,		16387	0.0		0.001	False		,,,				2504	0.0				p.Y471Y			Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1413T	6						.	C	,	0,4406		0,0,2203	100.0	85.0	90.0		1413,1365	-4.9	0.3	6	dbSNP_134	90	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous	MLLT4	NM_001040000.2,NM_001207008.1	,	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	,	471/1652,455/1744	168298980	5,13001	2203	4300	6503	168041829	SO:0001819	synonymous_variant	4301	exon11			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.1413C>T	6.37:g.168298980C>T			168041829	NM_001040000	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	37		.	.	.	.	.	.	.	.	.	.	C	8.336	0.827622	0.16749	0.0	5.81E-4	ENSG00000130396	ENST00000423229	.	.	.	5.56	-4.93	0.03066	.	.	.	.	.	T	0.49440	0.1557	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61158	-0.7119	4	.	.	.	-19.5993	14.2072	0.65741	0.0:0.3637:0.0:0.6363	.	.	.	.	C	170	.	.	R	+	1	0	MLLT4	168041829	0.001000	0.12720	0.314000	0.25224	0.947000	0.59692	-1.512000	0.02258	-0.868000	0.04058	-1.043000	0.02367	CGT		0.532	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936	
RREB1	6239	hgsc.bcm.edu	37	6	7231010	7231010	+	Missense_Mutation	SNP	C	C	T	rs375275893		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:7231010C>T	ENST00000349384.6	+	10	2992	c.2678C>T	c.(2677-2679)gCg>gTg	p.A893V	RREB1_ENST00000334984.6_Missense_Mutation_p.A893V|RREB1_ENST00000379933.3_Missense_Mutation_p.A893V|RREB1_ENST00000379938.2_Missense_Mutation_p.A893V	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	893					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A893V(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGTAGCTTTGCGGTGGACTTC	0.592																																					p.A893V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2678T	6						.	C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	59.0	58.0	59.0		2678,2678,2678,2678	5.0	0.0	6		59	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	RREB1	NM_001003698.3,NM_001003699.3,NM_001003700.1,NM_001168344.1	64,64,64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	893/1688,893/1743,893/1477,893/1688	7231010	1,13005	2203	4300	6503	7176009	SO:0001583	missense	6239	exon10			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2678C>T	6.37:g.7231010C>T	ENSP00000305560:p.Ala893Val		7176009	NM_001003700	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038703	0.35989	0.0	1.16E-4	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.11604	2.88;2.85;2.88;2.76	4.98	4.98	0.66077	.	0.200924	0.33553	N	0.004788	T	0.04092	0.0114	L	0.44542	1.39	0.09310	N	0.999999	P;P;P	0.40931	0.579;0.669;0.733	B;B;B	0.31495	0.077;0.122;0.131	T	0.37267	-0.9713	10	0.23891	T	0.37	-5.7076	18.4639	0.90748	0.0:1.0:0.0:0.0	.	893;893;893	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	V	893	ENSP00000369265:A893V;ENSP00000369270:A893V;ENSP00000305560:A893V;ENSP00000335574:A893V	ENSP00000335574:A893V	A	+	2	0	RREB1	7176009	0.048000	0.20356	0.006000	0.13384	0.707000	0.40811	3.461000	0.53035	2.576000	0.86940	0.655000	0.94253	GCG		0.592	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1		
DSP	1832	hgsc.bcm.edu	37	6	7583161	7583161	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:7583161A>T	ENST00000379802.3	+	24	6007	c.5666A>T	c.(5665-5667)gAg>gTg	p.E1889V	DSP_ENST00000418664.2_Missense_Mutation_p.E1290V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1889	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.E1889V(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAAAAGAGTGAGAGAGAGAAG	0.448																																					p.E1290V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3869T	6						.						79.0	83.0	82.0					6																	7583161		2203	4300	6503	7528160	SO:0001583	missense	1832	exon24			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5666A>T	6.37:g.7583161A>T	ENSP00000369129:p.Glu1889Val		7528160	NM_001008844	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.437885	0.43326	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.70045	-0.45;-0.45	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000015	T	0.64538	0.2607	L	0.43152	1.355	0.22171	N	0.999314	D;P	0.71674	0.998;0.917	D;B	0.62955	0.909;0.446	T	0.61267	-0.7097	10	0.41790	T	0.15	.	15.3875	0.74714	1.0:0.0:0.0:0.0	.	1337;1889	Q4LE79;P15924	.;DESP_HUMAN	V	1889;1290	ENSP00000369129:E1889V;ENSP00000396591:E1290V	ENSP00000369129:E1889V	E	+	2	0	DSP	7528160	1.000000	0.71417	0.864000	0.33941	0.990000	0.78478	7.476000	0.81055	2.019000	0.59389	0.528000	0.53228	GAG		0.448	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	
BLOC1S5	63915	hgsc.bcm.edu	37	6	8015903	8015903	+	Silent	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:8015903T>C	ENST00000397457.2	-	5	580	c.543A>G	c.(541-543)ctA>ctG	p.L181L	BLOC1S5-TXNDC5_ENST00000439343.2_Intron|BLOC1S5_ENST00000475998.1_5'UTR|BLOC1S5_ENST00000543936.1_Silent_p.L117L|TXNDC5_ENST00000539054.1_Intron	NM_001199323.1|NM_201280.2	NP_001186252.1|NP_958437.1	Q8TDH9	BL1S5_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 5, muted	181					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to melanosome transport (GO:0035646)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuron projection development (GO:0031175)|otolith morphogenesis (GO:0032474)|positive regulation of pigment cell differentiation (GO:0050942)	BLOC-1 complex (GO:0031083)|transport vesicle (GO:0030133)		p.L181L(1)									AAAATTTCGCTAGGTCCTTCT	0.413																																					p.L181L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A543G	6						.						242.0	226.0	232.0					6																	8015903		2203	4300	6503	7960902	SO:0001819	synonymous_variant	63915	exon5			AF426434	CCDS4506.1, CCDS75394.1	6p25.1-p24.3	2012-08-01	2012-08-01	2012-08-01		ENSG00000188428		"""Biogenesis of lysosomal organelles complex-1 subunits"""	18561	protein-coding gene	gene with protein product		607289	"""muted homolog (mouse)"""	MUTED		11912185	Standard	NM_001199322		Approved	MU, dJ303A1.3		Q8TDH9	OTTHUMG00000014220	ENST00000397457.2:c.543A>G	6.37:g.8015903T>C			7960902	NM_201280	B4DVM2|Q0VDJ6|Q0VDJ7|Q5THS1|Q68D56|Q8N5F9|Q9NU16	Silent	SNP	ENST00000397457.2	37	CCDS4506.1																																																																																				0.413	BLOC1S5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039797.2	NM_201280	
SLC35B3	51000	hgsc.bcm.edu	37	6	8430225	8430225	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:8430225G>C	ENST00000379660.4	-	3	618	c.169C>G	c.(169-171)Cca>Gca	p.P57A	SLC35B3_ENST00000426876.1_Missense_Mutation_p.P123A|SLC35B3_ENST00000339306.5_Missense_Mutation_p.P57A	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	57					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.P57A(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					TTGATGTGTGGTGACATTGTT	0.373																																					p.P57A	Melanoma(83;700 1353 9357 11478 30548)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C169G	6						.						165.0	144.0	151.0					6																	8430225		2203	4300	6503	8375224	SO:0001583	missense	51000	exon3			AF132953	CCDS4508.1	6p24.3	2013-07-17	2013-07-17	2003-09-10	ENSG00000124786	ENSG00000124786		"""Solute carriers"""	21601	protein-coding gene	gene with protein product	"""3' phosphoadenosine 5' phosphosulfate transporter 2"""	610845	"""chromosome 6 open reading frame 196"", ""solute carrier family 35, member B3"""	C6orf196		10810093	Standard	XM_005249156		Approved	CGI-19, dJ453H5.1, PAPST2	uc010joe.3	Q9H1N7	OTTHUMG00000014224	ENST00000379660.4:c.169C>G	6.37:g.8430225G>C	ENSP00000368981:p.Pro57Ala		8375224	NM_001142541	A6NKX9|Q1XH11|Q6MZJ0|Q7Z662|Q9Y308	Missense_Mutation	SNP	ENST00000379660.4	37	CCDS4508.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865112	0.71949	.	.	ENSG00000124786	ENST00000379660;ENST00000339306;ENST00000426876	T;T	0.50548	1.38;0.74	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.53690	0.1812	L	0.36672	1.1	0.80722	D	1	D;P;P	0.89917	1.0;0.846;0.706	D;B;B	0.91635	0.999;0.218;0.096	T	0.41770	-0.9490	9	.	.	.	-18.7387	20.2218	0.98326	0.0:0.0:1.0:0.0	.	57;57;57	B4E2F5;Q9H1N7;B2R8V5	.;S35B3_HUMAN;.	A	57;57;123	ENSP00000368981:P57A;ENSP00000345902:P57A	.	P	-	1	0	SLC35B3	8375224	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.286000	0.95898	2.792000	0.96026	0.637000	0.83480	CCA		0.373	SLC35B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039802.1	NM_015948	
MBOAT1	154141	hgsc.bcm.edu	37	6	20113225	20113225	+	Missense_Mutation	SNP	C	C	T	rs143520373		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:20113225C>T	ENST00000324607.7	-	11	1255	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q	MBOAT1_ENST00000541730.1_Missense_Mutation_p.R215Q	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	364					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)	p.R364Q(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			CCATGGAACCCGCTGATAGCA	0.458																																					p.R364Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1091A	6						.						106.0	82.0	90.0					6																	20113225		2203	4300	6503	20221204	SO:0001583	missense	154141	exon11			AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 1"""	611732	"""O-acyltransferase (membrane bound) domain containing 1"""	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.1091G>A	6.37:g.20113225C>T	ENSP00000324944:p.Arg364Gln		20221204	NM_001080480	A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Missense_Mutation	SNP	ENST00000324607.7	37	CCDS34346.1	.	.	.	.	.	.	.	.	.	.	C	32	5.172809	0.94807	.	.	ENSG00000172197	ENST00000541730;ENST00000324607	T;T	0.76186	-1.0;-1.0	5.83	5.83	0.93111	.	0.054004	0.64402	D	0.000001	D	0.89532	0.6742	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.948;0.998	D	0.91234	0.5016	10	0.87932	D	0	-12.9768	19.7289	0.96175	0.0:1.0:0.0:0.0	.	215;364	Q6ZNC8-2;Q6ZNC8	.;MBOA1_HUMAN	Q	215;364	ENSP00000441568:R215Q;ENSP00000324944:R364Q	ENSP00000324944:R364Q	R	-	2	0	MBOAT1	20221204	1.000000	0.71417	1.000000	0.80357	0.531000	0.34715	4.709000	0.61867	2.770000	0.95276	0.655000	0.94253	CGG		0.458	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1		
BTN2A1	11120	hgsc.bcm.edu	37	6	26463655	26463655	+	Missense_Mutation	SNP	C	C	T	rs375240672		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:26463655C>T	ENST00000312541.5	+	4	862	c.614C>T	c.(613-615)aCg>aTg	p.T205M	BTN2A1_ENST00000429381.1_Missense_Mutation_p.T205M|BTN2A1_ENST00000541522.1_Missense_Mutation_p.T144M|BTN2A1_ENST00000469185.1_Missense_Mutation_p.T205M	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	205					lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.T205M(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						ATGGTCACCACGGCTGTGATC	0.542																																					p.T205M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C614T	6						.	C	MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	137.0	122.0	127.0		431,614,614,614	-0.9	0.0	6		127	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	BTN2A1	NM_001197233.1,NM_001197234.1,NM_007049.3,NM_078476.2	81,81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	144/467,205/331,205/528,205/335	26463655	1,13005	2203	4300	6503	26571634	SO:0001583	missense	11120	exon4			U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.614C>T	6.37:g.26463655C>T	ENSP00000312158:p.Thr205Met		26571634	NM_001197234	B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Missense_Mutation	SNP	ENST00000312541.5	37	CCDS4613.1	.	.	.	.	.	.	.	.	.	.	C	8.063	0.768555	0.15983	0.0	1.16E-4	ENSG00000112763	ENST00000312541;ENST00000541522;ENST00000429381;ENST00000265424;ENST00000469185	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	2.88	-0.878	0.10617	CD80-like, immunoglobulin C2-set (1);	1.843390	0.02538	N	0.094285	T	0.44435	0.1293	L	0.28458	0.855	0.09310	N	1	B;B	0.32382	0.368;0.368	B;B	0.26770	0.073;0.073	T	0.36311	-0.9753	10	0.37606	T	0.19	.	7.6628	0.28413	0.0:0.6672:0.0:0.3328	.	205;205	Q96AV7;Q7KYR7	.;BT2A1_HUMAN	M	205;144;205;205;205	ENSP00000312158:T205M;ENSP00000443909:T144M;ENSP00000416945:T205M;ENSP00000419043:T205M	ENSP00000265424:T205M	T	+	2	0	BTN2A1	26571634	0.000000	0.05858	0.004000	0.12327	0.901000	0.52897	-2.350000	0.01092	-0.182000	0.10602	0.561000	0.74099	ACG		0.542	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2	NM_007049	
HIST1H2BM	8342	hgsc.bcm.edu	37	6	27783080	27783080	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:27783080C>T	ENST00000359465.4	+	1	259	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	HIST1H2AJ_ENST00000333151.3_5'Flank	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	87					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R87C(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						TTACAACAAGCGCTCGACCAT	0.597																																					p.R87C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C259T	6						.						94.0	88.0	90.0					6																	27783080		2203	4300	6503	27891059	SO:0001583	missense	8342	exon1			Z83738	CCDS4629.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196374	ENSG00000273703		"""Histones / Replication-dependent"""	4750	protein-coding gene	gene with protein product		602802	"""H2B histone family, member E"", ""histone 1, H2bm"""	H2BFE		9439656, 12408966	Standard	NM_003521		Approved	H2B/e, dJ160A22.3	uc003njo.3	Q99879	OTTHUMG00000014489	ENST00000359465.4:c.259C>T	6.37:g.27783080C>T	ENSP00000352442:p.Arg87Cys		27891059	NM_003521	Q6NWQ3	Missense_Mutation	SNP	ENST00000359465.4	37	CCDS4629.1	.	.	.	.	.	.	.	.	.	.	.	15.64	2.894310	0.52121	.	.	ENSG00000196374	ENST00000359465	T	0.78003	-1.14	4.34	4.34	0.51931	Histone-fold (2);Histone core (1);	0.000000	0.64402	U	0.000013	T	0.76772	0.4034	M	0.91717	3.235	0.80722	D	1	B	0.15473	0.013	B	0.16289	0.015	T	0.79320	-0.1852	10	0.51188	T	0.08	.	16.3606	0.83263	0.0:1.0:0.0:0.0	.	87	Q99879	H2B1M_HUMAN	C	87	ENSP00000352442:R87C	ENSP00000352442:R87C	R	+	1	0	HIST1H2BM	27891059	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.519000	0.67074	2.391000	0.81399	0.563000	0.77884	CGC		0.597	HIST1H2BM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040157.1	NM_003521	
PGBD1	84547	hgsc.bcm.edu	37	6	28269778	28269778	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:28269778A>G	ENST00000405948.2	+	7	2567	c.2147A>G	c.(2146-2148)gAt>gGt	p.D716G	PGBD1_ENST00000259883.3_Missense_Mutation_p.D716G	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	716						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D716G(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TGTGATGCTGATAACGAAGAA	0.398																																					p.D716G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2147G	6						.						155.0	147.0	150.0					6																	28269778		2203	4300	6503	28377757	SO:0001583	missense	84547	exon7			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.2147A>G	6.37:g.28269778A>G	ENSP00000385213:p.Asp716Gly		28377757	NM_001184743	Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	A	0.256	-1.002827	0.02128	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.17854	2.25;2.25	4.1	1.68	0.24146	.	0.362615	0.16718	U	0.202400	T	0.03520	0.0101	N	0.22421	0.69	0.09310	N	1	B	0.22800	0.075	B	0.30251	0.113	T	0.42982	-0.9419	10	0.34782	T	0.22	-20.1431	5.729	0.18028	0.778:0.0:0.222:0.0	.	716	Q96JS3	PGBD1_HUMAN	G	716	ENSP00000385213:D716G;ENSP00000259883:D716G	ENSP00000259883:D716G	D	+	2	0	PGBD1	28377757	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.746000	0.04829	0.251000	0.21505	-0.353000	0.07706	GAT		0.398	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2		
GPX5	2880	hgsc.bcm.edu	37	6	28501803	28501803	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:28501803G>T	ENST00000412168.2	+	5	614	c.525G>T	c.(523-525)aaG>aaT	p.K175N	GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	175					lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)	p.K175N(1)		endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	ACCCTGTAAAGGTCCATGACA	0.493																																					p.K175N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G525T	6						.						137.0	138.0	138.0					6																	28501803		2203	4300	6503	28609782	SO:0001583	missense	2880	exon5			AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.525G>T	6.37:g.28501803G>T	ENSP00000392398:p.Lys175Asn		28609782	NM_001509	A1A4Y0	Missense_Mutation	SNP	ENST00000412168.2	37	CCDS4652.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.346246	0.24426	.	.	ENSG00000224586	ENST00000412168	T	0.03920	3.76	4.42	-0.0434	0.13859	Thioredoxin-like fold (2);	0.195204	0.52532	D	0.000073	T	0.03651	0.0104	L	0.41356	1.27	0.80722	D	1	D	0.62365	0.991	P	0.61533	0.89	T	0.52298	-0.8594	10	0.26408	T	0.33	-4.5133	6.9212	0.24389	0.4251:0.0:0.5749:0.0	.	175	O75715	GPX5_HUMAN	N	175	ENSP00000392398:K175N	ENSP00000392398:K175N	K	+	3	2	GPX5	28609782	0.906000	0.30813	0.265000	0.24526	0.053000	0.15095	0.460000	0.21924	0.207000	0.20607	-0.436000	0.05848	AAG		0.493	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043672.2		
ABCF1	23	hgsc.bcm.edu	37	6	30545935	30545935	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:30545935G>A	ENST00000326195.8	+	4	411	c.299G>A	c.(298-300)cGt>cAt	p.R100H	ABCF1_ENST00000376545.3_Missense_Mutation_p.R100H|ABCF1_ENST00000396515.4_Missense_Mutation_p.R100H	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	100					inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)	p.R100H(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CTCATGGAGCGTCTTAAGAAG	0.473																																					p.R100H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G299A	6						.						97.0	99.0	98.0					6																	30545935		2203	4300	6503	30653914	SO:0001583	missense	23	exon4			AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.299G>A	6.37:g.30545935G>A	ENSP00000313603:p.Arg100His		30653914	NM_001025091	A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	37	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353300	0.82132	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000455943;ENST00000441867;ENST00000468958;ENST00000396515	T;T;T;T;T	0.56776	0.91;0.58;0.8;0.44;3.22	5.33	5.33	0.75918	.	0.114128	0.52532	D	0.000070	T	0.60064	0.2240	L	0.58101	1.795	0.22745	N	0.998788	D;D;D;D	0.76494	0.998;0.995;0.998;0.999	P;P;D;D	0.68765	0.806;0.88;0.928;0.96	T	0.56872	-0.7907	10	0.87932	D	0	-9.5281	16.2997	0.82804	0.0:0.0:1.0:0.0	.	100;100;100;100	Q5STZ7;Q2L6I2;Q8NE71;A2BF75	.;.;ABCF1_HUMAN;.	H	100;100;101;101;3;100	ENSP00000313603:R100H;ENSP00000365728:R100H;ENSP00000405512:R101H;ENSP00000440893:R3H;ENSP00000379772:R100H	ENSP00000313603:R100H	R	+	2	0	ABCF1	30653914	0.996000	0.38824	0.996000	0.52242	0.979000	0.70002	2.601000	0.46249	2.660000	0.90430	0.563000	0.77884	CGT		0.473	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3		
DHX16	8449	hgsc.bcm.edu	37	6	30633291	30633291	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:30633291T>C	ENST00000376442.3	-	5	1081	c.886A>G	c.(886-888)Aat>Gat	p.N296D		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	296					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.N296D(1)		kidney(2)|ovary(2)	4						TGGTAGCGATTGGTGGCCTCC	0.632																																					p.N296D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A886G	6						.						119.0	99.0	106.0					6																	30633291		1510	2708	4218	30741270	SO:0001583	missense	8449	exon5			AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.886A>G	6.37:g.30633291T>C	ENSP00000365625:p.Asn296Asp		30741270	NM_003587	O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	t	14.39	2.521389	0.44866	.	.	ENSG00000204560	ENST00000376442;ENST00000415603	T;T	0.64991	-0.13;1.98	5.12	5.12	0.69794	.	0.251126	0.44285	D	0.000463	T	0.14700	0.0355	N	0.04508	-0.205	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.27157	-1.0082	10	0.02654	T	1	.	8.6484	0.34020	0.0:0.0869:0.0:0.9131	.	236;296	B4DZ28;O60231	.;DHX16_HUMAN	D	296;236	ENSP00000365625:N296D;ENSP00000399101:N236D	ENSP00000365625:N296D	N	-	1	0	DHX16	30741270	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	3.161000	0.50747	2.141000	0.66446	0.478000	0.44815	AAT		0.632	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587	
DDAH2	23564	hgsc.bcm.edu	37	6	31695460	31695460	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:31695460C>T	ENST00000375789.2	-	5	1231	c.601G>A	c.(601-603)Gtg>Atg	p.V201M	DDAH2_ENST00000480913.1_5'UTR|DDAH2_ENST00000375787.2_Missense_Mutation_p.V201M|DDAH2_ENST00000375792.3_Missense_Mutation_p.V201M			O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	201					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|negative regulation of apoptotic process (GO:0043066)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of nitric oxide biosynthetic process (GO:0045429)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)	p.V201M(1)		endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	TCTGTCAGCACTGCCATTGCC	0.572																																					p.V201M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G601A	6						.						137.0	114.0	122.0					6																	31695460		1511	2709	4220	31803439	SO:0001583	missense	23564	exon6			AF070667	CCDS4718.1	6p21	2010-02-17			ENSG00000213722	ENSG00000213722	3.5.3.18		2716	protein-coding gene	gene with protein product		604744				10493931	Standard	XM_005248974		Approved		uc003nwq.3	O95865	OTTHUMG00000031212	ENST00000375789.2:c.601G>A	6.37:g.31695460C>T	ENSP00000364945:p.Val201Met		31803439	NM_013974	A2BEZ7	Missense_Mutation	SNP	ENST00000375789.2	37	CCDS4718.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.197003	0.38806	.	.	ENSG00000213722	ENST00000375789;ENST00000375787;ENST00000375792;ENST00000416410;ENST00000436437	.	.	.	5.0	3.98	0.46160	.	0.392410	0.26432	N	0.024411	T	0.09202	0.0227	N	0.14661	0.345	0.23320	N	0.997916	B	0.10296	0.003	B	0.08055	0.003	T	0.13926	-1.0491	9	0.45353	T	0.12	-25.7213	5.194	0.15225	0.0:0.6661:0.1958:0.1382	.	201	O95865	DDAH2_HUMAN	M	201	.	ENSP00000364943:V201M	V	-	1	0	DDAH2	31803439	0.156000	0.22821	0.781000	0.31783	0.793000	0.44817	1.319000	0.33655	1.071000	0.40834	0.655000	0.94253	GTG		0.572	DDAH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076432.2		
NOTCH4	4855	hgsc.bcm.edu	37	6	32188977	32188977	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:32188977G>A	ENST00000375023.3	-	4	715	c.577C>T	c.(577-579)Cgt>Tgt	p.R193C		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	193					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.R193C(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TTGACATCACGTTCACAGGCA	0.617																																					p.C193C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T577T	6						.						73.0	67.0	69.0					6																	32188977		1510	2708	4218	32296955	SO:0001583	missense	4855	exon4				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.577C>T	6.37:g.32188977G>A	ENSP00000364163:p.Arg193Cys		32296955	NM_004557	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864237	0.51482	.	.	ENSG00000204301	ENST00000375023	T	0.09817	2.94	4.44	4.44	0.53790	.	0.526040	0.15762	N	0.245875	T	0.11196	0.0273	L	0.45352	1.415	0.35512	D	0.80071	D;D	0.71674	0.998;0.986	P;B	0.53360	0.724;0.17	T	0.02603	-1.1135	10	0.66056	D	0.02	.	14.5934	0.68386	0.0:0.0:1.0:0.0	.	193;193	Q6P3V5;Q99466	.;NOTC4_HUMAN	C	193	ENSP00000364163:R193C	ENSP00000364163:R193C	R	-	1	0	NOTCH4	32296955	0.418000	0.25440	0.199000	0.23439	0.886000	0.51366	3.468000	0.53086	2.299000	0.77371	0.561000	0.74099	CGT		0.617	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2		
WDR46	9277	hgsc.bcm.edu	37	6	33254922	33254922	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:33254922C>T	ENST00000374617.4	-	9	1317	c.961G>A	c.(961-963)Gat>Aat	p.D321N	PFDN6_ENST00000374610.2_5'Flank|WDR46_ENST00000477718.1_5'Flank|PFDN6_ENST00000374606.5_5'Flank|PFDN6_ENST00000395131.1_5'Flank|PFDN6_ENST00000463584.1_5'Flank|PFDN6_ENST00000374607.1_5'Flank	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	321							poly(A) RNA binding (GO:0044822)	p.D321N(1)		NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CTCATAACATCGAGCCGCCCA	0.498																																					p.D267N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G799A	6						.						104.0	102.0	103.0					6																	33254922		2203	4300	6503	33362900	SO:0001583	missense	9277	exon9			Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"""WD repeat domain containing"""	13923	protein-coding gene	gene with protein product		611440	"""chromosome 6 open reading frame 11"""	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.961G>A	6.37:g.33254922C>T	ENSP00000363746:p.Asp321Asn		33362900	NM_001164267	A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP	ENST00000374617.4	37	CCDS4772.1	.	.	.	.	.	.	.	.	.	.	C	5.254	0.232340	0.09969	.	.	ENSG00000227057	ENST00000374617;ENST00000444176	T;T	0.15017	5.17;2.46	4.94	0.344	0.16006	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.718167	0.14001	N	0.348155	T	0.01523	0.0049	N	0.10645	0.015	0.09310	N	1	B;B	0.15930	0.005;0.015	B;B	0.09377	0.001;0.004	T	0.47114	-0.9142	10	0.08837	T	0.75	-0.1608	4.7894	0.13241	0.0:0.2589:0.1751:0.566	.	267;321	B4DP15;O15213	.;WDR46_HUMAN	N	321;248	ENSP00000363746:D321N;ENSP00000405568:D248N	ENSP00000363746:D321N	D	-	1	0	WDR46	33362900	0.002000	0.14202	0.000000	0.03702	0.847000	0.48162	0.615000	0.24329	-0.158000	0.11040	0.549000	0.68633	GAT		0.498	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	NM_005452	
SCUBE3	222663	hgsc.bcm.edu	37	6	35201029	35201029	+	Silent	SNP	C	C	T	rs376658138	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:35201029C>T	ENST00000274938.7	+	6	663	c.663C>T	c.(661-663)tgC>tgT	p.C221C	SCUBE3_ENST00000394681.1_Silent_p.C221C	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3									p.C221C(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						GTCCCCGGTGCGGCTGCCATA	0.602													c|||	4	0.000798722	0.0	0.0	5008	,	,		15060	0.0		0.0	False		,,,				2504	0.0041				p.C221C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C663T	6						.						44.0	42.0	43.0					6																	35201029		2203	4300	6503	35309007	SO:0001819	synonymous_variant	222663	exon6			AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.663C>T	6.37:g.35201029C>T			35309007	NM_152753		Silent	SNP	ENST00000274938.7	37	CCDS4800.1																																																																																				0.602	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753	
ETV7	51513	hgsc.bcm.edu	37	6	36343777	36343777	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:36343777G>A	ENST00000340181.4	-	3	419	c.178C>T	c.(178-180)Ctg>Ttg	p.L60L	ETV7_ENST00000373738.1_Intron|ETV7_ENST00000538992.1_Intron|ETV7_ENST00000339796.5_Silent_p.L60L|ETV7_ENST00000373737.4_Silent_p.L60L	NM_001207037.1|NM_001207040.1|NM_016135.3	NP_001193966.1|NP_001193969.1|NP_057219.1	Q9Y603	ETV7_HUMAN	ets variant 7	60	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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 RNA polymerase II transcription factor activity (GO:0000981)	p.L60L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						AGCCAGTGCAGCACGTCCTCC	0.642																																					p.L60L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C178T	6						.						69.0	55.0	60.0					6																	36343777		2203	4300	6503	36451755	SO:0001819	synonymous_variant	51513	exon3			AF116508	CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1	6p21	2008-09-12	2008-09-12		ENSG00000010030	ENSG00000010030			18160	protein-coding gene	gene with protein product	"""TEL2 oncogene"""	605255	"""ets variant gene 7 (TEL2 oncogene)"""			10828014, 11108721	Standard	NM_016135		Approved	TEL2, TEL-2	uc003omb.3	Q9Y603	OTTHUMG00000014594	ENST00000340181.4:c.178C>T	6.37:g.36343777G>A			36451755	NM_016135	B3KVC2|B4DVB6|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604	Silent	SNP	ENST00000340181.4	37	CCDS4819.1																																																																																				0.642	ETV7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040341.1	NM_016135	
CDKN1A	1026	hgsc.bcm.edu	37	6	36652215	36652215	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:36652215C>A	ENST00000405375.1	+	2	572	c.337C>A	c.(337-339)Ctg>Atg	p.L113M	CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Missense_Mutation_p.L147M|CDKN1A_ENST00000244741.5_Missense_Mutation_p.L113M|CDKN1A_ENST00000373711.2_Missense_Mutation_p.L113M	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	113					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)	p.L113M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CCATGTGGACCTGTCACTGTC	0.662																																					p.L113M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C337A	6						.						42.0	41.0	41.0					6																	36652215		2203	4300	6503	36760193	SO:0001583	missense	1026	exon3			U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.337C>A	6.37:g.36652215C>A	ENSP00000384849:p.Leu113Met		36760193	NM_078467	Q14010|Q6FI05|Q9BUT4	Missense_Mutation	SNP	ENST00000405375.1	37	CCDS4824.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468874	0.43839	.	.	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.23	4.35	0.52113	.	0.000000	0.43110	D	0.000619	T	0.71929	0.3398	L	0.49126	1.545	0.29392	N	0.862571	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.78314	0.991;0.983;0.991	T	0.67094	-0.5757	10	0.46703	T	0.11	-25.2042	8.7708	0.34731	0.0:0.897:0.0:0.103	.	147;113;113	B4DQP9;P38936;Q96LE1	.;CDN1A_HUMAN;.	M	147;113;113;113	ENSP00000409259:L147M;ENSP00000244741:L113M;ENSP00000384849:L113M;ENSP00000362815:L113M	ENSP00000244741:L113M	L	+	1	2	CDKN1A	36760193	0.999000	0.42202	1.000000	0.80357	0.508000	0.34012	0.897000	0.28390	1.412000	0.46977	0.561000	0.74099	CTG		0.662	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1	NM_078467	
ZFAND3	60685	hgsc.bcm.edu	37	6	38120077	38120077	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:38120077G>A	ENST00000287218.4	+	6	1043	c.596G>A	c.(595-597)cGt>cAt	p.R199H	ZFAND3_ENST00000373391.2_Missense_Mutation_p.R177H|ZFAND3_ENST00000463847.1_3'UTR	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	199							DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R199H(1)		endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						CACATGGGCCGTGGCCGGGAG	0.602																																					p.R199H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G596A	6						.						118.0	112.0	114.0					6																	38120077		2203	4300	6503	38228055	SO:0001583	missense	60685	exon6			AK023284	CCDS4836.1	6p21.2	2013-09-19	2005-12-15	2005-12-15	ENSG00000156639	ENSG00000156639		"""Zinc fingers, AN1-type domain containing"""	18019	protein-coding gene	gene with protein product		607455	"""testis expressed sequence 27"""	TEX27			Standard	NM_021943		Approved	FLJ13222	uc003onx.3	Q9H8U3	OTTHUMG00000014629	ENST00000287218.4:c.596G>A	6.37:g.38120077G>A	ENSP00000287218:p.Arg199His		38228055	NM_021943	Q5SZZ0|Q5SZZ1	Missense_Mutation	SNP	ENST00000287218.4	37	CCDS4836.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111408	0.37242	.	.	ENSG00000156639	ENST00000287218;ENST00000373391	.	.	.	5.9	4.14	0.48551	Zinc finger, AN1-type (2);	0.049374	0.85682	D	0.000000	T	0.09158	0.0226	N	0.01352	-0.895	0.80722	D	1	B	0.16802	0.019	B	0.14023	0.01	T	0.13124	-1.0521	9	0.15499	T	0.54	-3.4368	11.3997	0.49862	0.1989:0.0:0.8011:0.0	.	199	Q9H8U3	ZFAN3_HUMAN	H	199;177	.	ENSP00000287218:R199H	R	+	2	0	ZFAND3	38228055	1.000000	0.71417	0.945000	0.38365	0.977000	0.68977	4.984000	0.63838	0.843000	0.35070	0.563000	0.77884	CGT		0.602	ZFAND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040424.3	NM_021943	
KCNK17	89822	hgsc.bcm.edu	37	6	39278777	39278777	+	Missense_Mutation	SNP	C	C	T	rs138727524		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:39278777C>T	ENST00000373231.4	-	2	476	c.244G>A	c.(244-246)Gtc>Atc	p.V82I	KCNK17_ENST00000453413.2_Missense_Mutation_p.V82I	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	82					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.V82I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						TATGCTTGGACGACATCCTGG	0.562																																					p.V82I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G244A	6						.						120.0	110.0	114.0					6																	39278777		2203	4300	6503	39386755	SO:0001583	missense	89822	exon2			AF358910	CCDS4842.1, CCDS47419.1	6p21	2012-03-07			ENSG00000124780	ENSG00000124780		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14465	protein-coding gene	gene with protein product		607370				16382106	Standard	NM_031460		Approved	K2p17.1, TALK-2, TALK2, TASK4, TASK-4	uc003ooo.3	Q96T54	OTTHUMG00000014646	ENST00000373231.4:c.244G>A	6.37:g.39278777C>T	ENSP00000362328:p.Val82Ile		39386755	NM_031460	E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Missense_Mutation	SNP	ENST00000373231.4	37	CCDS4842.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.087567	0.00367	.	.	ENSG00000124780	ENST00000373231;ENST00000453413	T;T	0.15487	2.42;2.79	5.42	-7.27	0.01461	.	1.033650	0.07834	N	0.961859	T	0.01800	0.0057	N	0.03224	-0.385	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.09377	0.004;0.001	T	0.45160	-0.9280	10	0.14252	T	0.57	.	15.4714	0.75441	0.0:0.6089:0.0:0.3911	.	82;82	E9PB46;Q96T54	.;KCNKH_HUMAN	I	82	ENSP00000362328:V82I;ENSP00000401271:V82I	ENSP00000362328:V82I	V	-	1	0	KCNK17	39386755	0.702000	0.27816	0.002000	0.10522	0.002000	0.02628	-0.663000	0.05299	-1.286000	0.02384	-2.198000	0.00308	GTC		0.562	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460	
NFYA	4800	hgsc.bcm.edu	37	6	41057426	41057426	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:41057426G>A	ENST00000341376.6	+	5	619	c.418G>A	c.(418-420)Gct>Act	p.A140T	NFYA_ENST00000353205.5_Missense_Mutation_p.A111T|OARD1_ENST00000480585.1_Intron	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	140	Gln-rich.				cellular lipid metabolic process (GO:0044255)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A140T(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCCCAGACGGCTGTCACTGC	0.547																																					p.A140T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G418A	6						.						57.0	56.0	56.0					6																	41057426		2203	4300	6503	41165404	SO:0001583	missense	4800	exon5				CCDS4849.1, CCDS4850.1	6p21.3	2008-11-11			ENSG00000001167	ENSG00000001167			7804	protein-coding gene	gene with protein product		189903				1774067, 9612081	Standard	NM_002505		Approved	HAP2, CBF-B, NF-YA	uc003opo.3	P23511	OTTHUMG00000014669	ENST00000341376.6:c.418G>A	6.37:g.41057426G>A	ENSP00000345702:p.Ala140Thr		41165404	NM_002505	Q8IXU0	Missense_Mutation	SNP	ENST00000341376.6	37	CCDS4849.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.931900	0.92389	.	.	ENSG00000001167	ENST00000341376;ENST00000353205	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.72309	0.3444	L	0.59436	1.845	0.80722	D	1	D;D	0.60575	0.988;0.98	P;D	0.68192	0.908;0.956	T	0.69840	-0.5036	9	0.48119	T	0.1	-15.028	19.4074	0.94653	0.0:0.0:1.0:0.0	.	111;140	P23511-2;P23511	.;NFYA_HUMAN	T	140;111	.	ENSP00000345702:A140T	A	+	1	0	NFYA	41165404	1.000000	0.71417	0.752000	0.31206	0.979000	0.70002	9.637000	0.98443	2.831000	0.97527	0.650000	0.86243	GCT		0.547	NFYA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040496.1		
TRERF1	55809	hgsc.bcm.edu	37	6	42224839	42224839	+	Splice_Site	SNP	G	G	A	rs200270446		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:42224839G>A	ENST00000372922.4	-	11	2900	c.2338C>T	c.(2338-2340)Cgc>Tgc	p.R780C	TRERF1_ENST00000541110.1_Splice_Site_p.R800C|TRERF1_ENST00000372917.4_Splice_Site_p.R697C|TRERF1_ENST00000354325.2_Splice_Site_p.R697C|TRERF1_ENST00000340840.2_Splice_Site_p.R697C	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	780	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.|Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R780C(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ATGTTGATGCGTCTTTAAATG	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		22181	0.001		0.0	False		,,,				2504	0.0				p.R780C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2338T	6						.						127.0	121.0	123.0					6																	42224839		2203	4300	6503	42332817	SO:0001630	splice_region_variant	55809	exon11			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.2337-1C>T	6.37:g.42224839G>A			42332817	NM_033502	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	CCDS4867.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	33	5.249564	0.95305	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.14266	2.57;2.53;2.57;2.53;2.52	5.74	5.74	0.90152	ELM2 domain (1);	0.000000	0.64402	D	0.000016	T	0.34424	0.0897	M	0.76574	2.34	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	0.91635	0.999;0.996;0.996;0.998;0.996	T	0.05115	-1.0905	10	0.87932	D	0	-24.6462	20.2982	0.98569	0.0:0.0:1.0:0.0	.	697;800;780;536;536	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	C	800;697;780;697;697	ENSP00000439689:R800C;ENSP00000362008:R697C;ENSP00000362013:R780C;ENSP00000339438:R697C;ENSP00000346285:R697C	ENSP00000339438:R697C	R	-	1	0	TRERF1	42332817	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.298000	0.96132	2.873000	0.98535	0.563000	0.77884	CGC		0.453	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502	Missense_Mutation
PRPH2	5961	hgsc.bcm.edu	37	6	42689604	42689604	+	Missense_Mutation	SNP	C	C	T	rs61755787		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:42689604C>T	ENST00000230381.5	-	1	708	c.469G>A	c.(469-471)Gac>Aac	p.D157N		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	157			D -> N (in PDREP).		cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.D157N(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TGCAGCATGTCGATGGTCTTC	0.537																																					p.D157N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G469A	6	GRCh37	CM951117	PRPH2	M	rs61755787	.						127.0	113.0	117.0					6																	42689604		2203	4300	6503	42797582	SO:0001583	missense	5961	exon1				CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"""Tetraspanins"""	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"""retinal degeneration, slow (retinitis pigmentosa 7)"", ""retinal degeneration, slow"""	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.469G>A	6.37:g.42689604C>T	ENSP00000230381:p.Asp157Asn		42797582	NM_000322	Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000230381.5	37	CCDS4871.1	.	.	.	.	.	.	.	.	.	.	C	36	5.623476	0.96660	.	.	ENSG00000112619	ENST00000230381	D	0.81739	-1.53	5.78	5.78	0.91487	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	D	0.91479	0.7310	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91629	0.5317	10	0.66056	D	0.02	.	20.3668	0.98882	0.0:1.0:0.0:0.0	rs61755787	157	P23942	PRPH2_HUMAN	N	157	ENSP00000230381:D157N	ENSP00000230381:D157N	D	-	1	0	PRPH2	42797582	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	7.708000	0.84633	2.894000	0.99253	0.655000	0.94253	GAC		0.537	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322	
GLTSCR1L	23506	hgsc.bcm.edu	37	6	42796796	42796796	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:42796796G>T	ENST00000314073.5	+	6	901	c.725G>T	c.(724-726)gGg>gTg	p.G242V	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.G242V			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	242								p.G242V(1)									AAGGGCAGCGGGCAGCAAGCC	0.443																																					p.G242V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G725T	6						.						66.0	68.0	67.0					6																	42796796		2203	4300	6503	42904774	SO:0001583	missense	23506	exon5			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.725G>T	6.37:g.42796796G>T	ENSP00000313933:p.Gly242Val		42904774	NM_015349	A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658805	0.47467	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.35421	1.31;1.31	5.22	5.22	0.72569	.	0.084023	0.51477	D	0.000085	T	0.53029	0.1771	M	0.63843	1.955	0.80722	D	1	D;P;P	0.89917	1.0;0.884;0.884	D;P;P	0.91635	0.999;0.636;0.636	T	0.55134	-0.8188	10	0.66056	D	0.02	-11.2248	19.1617	0.93535	0.0:0.0:1.0:0.0	.	242;242;242	F5H616;Q6AI39;B7Z2G7	.;K0240_HUMAN;.	V	242	ENSP00000313933:G242V;ENSP00000377723:G242V	ENSP00000313933:G242V	G	+	2	0	KIAA0240	42904774	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.588000	0.46137	2.581000	0.87130	0.655000	0.94253	GGG		0.443	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349	
RRP36	88745	hgsc.bcm.edu	37	6	42996888	42996888	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:42996888A>T	ENST00000244496.5	+	7	712	c.702A>T	c.(700-702)aaA>aaT	p.K234N		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	234					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K234N(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						GCAGCAAGAAATTGGAGAACT	0.468																																					p.K234N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A702T	6						.						142.0	143.0	143.0					6																	42996888		2203	4300	6503	43104866	SO:0001583	missense	88745	exon7			BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"""chromosome 6 open reading frame 153"""	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.702A>T	6.37:g.42996888A>T	ENSP00000244496:p.Lys234Asn		43104866	NM_033112	Q9BRF6|Q9P0C8	Missense_Mutation	SNP	ENST00000244496.5	37	CCDS34453.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.455332	0.63401	.	.	ENSG00000124541	ENST00000244496	T	0.53206	0.63	5.31	2.24	0.28232	.	0.000000	0.85682	D	0.000000	T	0.51295	0.1666	M	0.75150	2.29	0.47547	D	0.999456	D	0.63880	0.993	D	0.68039	0.955	T	0.54879	-0.8227	10	0.72032	D	0.01	.	8.1397	0.31076	0.3677:0.0:0.6323:0.0	.	234	Q96EU6	RRP36_HUMAN	N	234	ENSP00000244496:K234N	ENSP00000244496:K234N	K	+	3	2	RRP36	43104866	1.000000	0.71417	0.898000	0.35279	0.844000	0.47949	1.340000	0.33896	0.199000	0.20427	-0.487000	0.04747	AAA		0.468	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112	
DLK2	65989	hgsc.bcm.edu	37	6	43418776	43418776	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:43418776C>T	ENST00000357338.3	-	6	1353	c.653G>A	c.(652-654)aGc>aAc	p.S218N	DLK2_ENST00000414245.1_Missense_Mutation_p.S212N|DLK2_ENST00000372485.1_Missense_Mutation_p.S212N|DLK2_ENST00000372488.3_Missense_Mutation_p.S218N	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	218	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.S218N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GCATGGGCGGCTGGCACAGTC	0.612																																					p.S218N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G653A	6						.						61.0	63.0	62.0					6																	43418776		2203	4300	6503	43526754	SO:0001583	missense	65989	exon6			AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"""EGF-like-domain, multiple 9"""	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.653G>A	6.37:g.43418776C>T	ENSP00000349893:p.Ser218Asn		43526754	NM_023932	B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	ENST00000357338.3	37	CCDS4897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.9|22.9	4.347338|4.347338	0.82022|0.82022	.|.	.|.	ENSG00000171462|ENSG00000171462	ENST00000430324|ENST00000372485;ENST00000372488;ENST00000357338;ENST00000414245	.|D;D;D;D	.|0.91792	.|-2.91;-2.91;-2.91;-2.91	4.94|4.94	4.94|4.94	0.65067|0.65067	.|EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.|0.046193	.|0.85682	.|D	.|0.000000	D|D	0.86793|0.86793	0.6018|0.6018	L|L	0.54908|0.54908	1.71|1.71	0.44985|0.44985	D|D	0.998004|0.998004	.|P	.|0.37708	.|0.606	.|B	.|0.38985	.|0.287	D|D	0.87848|0.87848	0.2656|0.2656	5|10	.|0.48119	.|T	.|0.1	.|.	12.9354|12.9354	0.58311|0.58311	0.0:0.9209:0.0:0.0791|0.0:0.9209:0.0:0.0791	.|.	.|218	.|Q6UY11	.|DLK2_HUMAN	T|N	124|212;218;218;212	.|ENSP00000361563:S212N;ENSP00000361566:S218N;ENSP00000349893:S218N;ENSP00000398906:S212N	.|ENSP00000349893:S218N	A|S	-|-	1|2	0|0	DLK2|DLK2	43526754|43526754	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	3.890000|3.890000	0.56220|0.56220	2.454000|2.454000	0.82982|0.82982	0.462000|0.462000	0.41574|0.41574	GCC|AGC		0.612	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	NM_023932	
POLH	5429	hgsc.bcm.edu	37	6	43582004	43582004	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:43582004C>T	ENST00000372236.4	+	11	2147	c.1852C>T	c.(1852-1854)Cag>Tag	p.Q618*	POLH_ENST00000372226.1_3'UTR|POLH_ENST00000535400.1_Nonsense_Mutation_p.Q556*	NM_006502.2	NP_006493.1	O75417	DPOLQ_HUMAN	polymerase (DNA directed), eta	0					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.Q618*(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GGAGGTGACTCAGAAAGCAAC	0.512								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum																												p.Q618X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1852T	6						.						91.0	93.0	92.0					6																	43582004		2203	4300	6503	43689982	SO:0001587	stop_gained	5429	exon11	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	AB024313	CCDS4902.1	6p21	2014-09-17			ENSG00000170734	ENSG00000170734			9181	protein-coding gene	gene with protein product		603968				10385124, 10398605	Standard	NM_006502		Approved	RAD30A, XP-V	uc003ovq.4	Q9Y253	OTTHUMG00000014743	ENST00000372236.4:c.1852C>T	6.37:g.43582004C>T	ENSP00000361310:p.Gln618*		43689982	NM_006502	O95160|Q6VMB5	Nonsense_Mutation	SNP	ENST00000372236.4	37	CCDS4902.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955418	0.73902	.	.	ENSG00000170734	ENST00000372236;ENST00000535400	.	.	.	5.72	3.79	0.43588	.	1.522640	0.03217	N	0.176940	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-20.6601	15.3212	0.74124	0.0:0.6388:0.3612:0.0	.	.	.	.	X	618;556	.	ENSP00000361310:Q618X	Q	+	1	0	POLH	43689982	0.001000	0.12720	0.266000	0.24541	0.014000	0.08584	1.548000	0.36201	1.542000	0.49330	-0.176000	0.13171	CAG		0.512	POLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040666.1	NM_006502	
TCTE1	202500	hgsc.bcm.edu	37	6	44253986	44253986	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:44253986G>A	ENST00000371505.4	-	3	683	c.561C>T	c.(559-561)taC>taT	p.Y187Y	TCTE1_ENST00000371503.3_Silent_p.Y34Y|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Silent_p.Y34Y|RP11-444E17.6_ENST00000505802.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	187								p.Y187Y(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCCTGCGCACGTAATTCCGGC	0.647																																					p.Y187Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C561T	6						.						42.0	39.0	40.0					6																	44253986		2203	4300	6503	44361964	SO:0001819	synonymous_variant	202500	exon3			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.561C>T	6.37:g.44253986G>A			44361964	NM_182539	B4DX59|Q8IYS6	Silent	SNP	ENST00000371505.4	37	CCDS4910.1																																																																																				0.647	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539	
SUPT3H	8464	hgsc.bcm.edu	37	6	44922264	44922264	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:44922264A>T	ENST00000371459.1	-	8	826	c.661T>A	c.(661-663)Tta>Ata	p.L221I	SUPT3H_ENST00000306867.5_Missense_Mutation_p.L221I|SUPT3H_ENST00000371458.1_Missense_Mutation_p.L4I|SUPT3H_ENST00000371460.1_Missense_Mutation_p.L232I|SUPT3H_ENST00000371461.2_Missense_Mutation_p.L232I	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	303					chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)	p.L221I(1)|p.L232I(1)		breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						AAATATGCTAAGATTTCCATT	0.403																																					p.L232I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T694A	6						.						166.0	159.0	161.0					6																	44922264		2203	4300	6503	45030242	SO:0001583	missense	8464	exon10			AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"""suppressor of Ty (S.cerevisiae) 3 homolog"""			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.661T>A	6.37:g.44922264A>T	ENSP00000360514:p.Leu221Ile		45030242	NM_181356	A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Missense_Mutation	SNP	ENST00000371459.1	37	CCDS34465.1	.	.	.	.	.	.	.	.	.	.	A	18.79	3.698527	0.68386	.	.	ENSG00000196284	ENST00000371460;ENST00000371459;ENST00000371458;ENST00000306867;ENST00000371461	T;T;T;T;T	0.71698	-0.59;-0.58;-0.1;-0.58;-0.59	5.76	2.04	0.26737	.	0.165503	0.45606	D	0.000347	T	0.74951	0.3784	M	0.79011	2.435	0.47308	D	0.999383	D;D	0.69078	0.978;0.997	P;D	0.72625	0.79;0.978	T	0.76424	-0.2964	10	0.72032	D	0.01	.	8.7401	0.34552	0.7137:0.0:0.2863:0.0	.	232;303	O75486-3;O75486	.;SUPT3_HUMAN	I	232;221;4;221;232	ENSP00000360515:L232I;ENSP00000360514:L221I;ENSP00000360513:L4I;ENSP00000306718:L221I;ENSP00000360516:L232I	ENSP00000306718:L221I	L	-	1	2	SUPT3H	45030242	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.915000	0.56409	0.460000	0.27045	-0.451000	0.05528	TTA		0.403	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106911.2	NM_181356	
TDRD6	221400	hgsc.bcm.edu	37	6	46661150	46661150	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:46661150G>A	ENST00000316081.6	+	1	5285	c.5285G>A	c.(5284-5286)gGa>gAa	p.G1762E	TDRD6_ENST00000544460.1_Missense_Mutation_p.G1762E	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1762					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.G1762E(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AACATTATTGGAACCAAACCA	0.328																																					p.G1762E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5285A	6						.						60.0	67.0	64.0					6																	46661150		2203	4299	6502	46769109	SO:0001583	missense	221400	exon1			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.5285G>A	6.37:g.46661150G>A	ENSP00000346065:p.Gly1762Glu		46769109	NM_001010870	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.316031	0.00235	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.11604	2.76;2.76	5.71	3.22	0.36961	.	0.594327	0.17429	N	0.174542	T	0.00468	0.0015	N	0.00289	-1.7	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44605	-0.9317	10	0.02654	T	1	-6.7791	3.4646	0.07545	0.6205:0.0:0.1729:0.2066	.	1762;1762	F5H5M3;O60522	.;TDRD6_HUMAN	E	1762	ENSP00000443299:G1762E;ENSP00000346065:G1762E	ENSP00000346065:G1762E	G	+	2	0	TDRD6	46769109	1.000000	0.71417	0.135000	0.22099	0.023000	0.10783	2.174000	0.42482	0.975000	0.38392	-0.290000	0.09829	GGA		0.328	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443	
TFAP2B	7021	hgsc.bcm.edu	37	6	50810934	50810934	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:50810934C>T	ENST00000393655.3	+	7	1381	c.1212C>T	c.(1210-1212)ggC>ggT	p.G404G	TFAP2B_ENST00000263046.4_Silent_p.G413G	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	404				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). {ECO:0000305}.	aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.G404G(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					TCACGCACGGCTTCGGCGCCC	0.637																																					p.G404G	Pancreas(116;1373 2332 5475 10752)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1212T	6						.						60.0	65.0	63.0					6																	50810934		2203	4299	6502	50918893	SO:0001819	synonymous_variant	7021	exon7			X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.1212C>T	6.37:g.50810934C>T			50918893	NM_003221	Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Silent	SNP	ENST00000393655.3	37	CCDS4934.2																																																																																				0.637	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221	
PKHD1	5314	hgsc.bcm.edu	37	6	51524601	51524601	+	Silent	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:51524601A>G	ENST00000371117.3	-	61	10598	c.10323T>C	c.(10321-10323)ttT>ttC	p.F3441F		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3441					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.F3441F(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTACACTGCTAAAGACATCAA	0.418																																					p.F3441F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T10323C	6						.						112.0	104.0	106.0					6																	51524601		2203	4300	6503	51632560	SO:0001819	synonymous_variant	5314	exon61			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10323T>C	6.37:g.51524601A>G			51632560	NM_138694	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	CCDS4935.1																																																																																				0.418	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
PKHD1	5314	hgsc.bcm.edu	37	6	51612634	51612634	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:51612634C>T	ENST00000371117.3	-	58	10055	c.9780G>A	c.(9778-9780)tgG>tgA	p.W3260*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.W3260*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3260					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.W3260*(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCACTTTGTGCCATGGCTCCT	0.428																																					p.W3260X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G9780A	6						.						103.0	98.0	100.0					6																	51612634		2203	4300	6503	51720593	SO:0001587	stop_gained	5314	exon58			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9780G>A	6.37:g.51612634C>T	ENSP00000360158:p.Trp3260*		51720593	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Nonsense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	52	19.468492	0.99919	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	.	.	.	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	.	18.9119	0.92489	0.0:1.0:0.0:0.0	.	.	.	.	X	3260	.	ENSP00000341097:W3260X	W	-	3	0	PKHD1	51720593	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.534000	0.53568	2.712000	0.92718	0.650000	0.86243	TGG		0.428	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
GCM1	8521	hgsc.bcm.edu	37	6	52993610	52993610	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:52993610G>A	ENST00000259803.7	-	6	916	c.705C>T	c.(703-705)tgC>tgT	p.C235C	RP11-506E9.3_ENST00000566420.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	235					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.C235C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					AGAAGGAAAAGCAATCATTTA	0.443																																					p.C235C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C705T	6						.						90.0	84.0	86.0					6																	52993610		2203	4300	6503	53101569	SO:0001819	synonymous_variant	8521	exon6			D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.705C>T	6.37:g.52993610G>A			53101569	NM_003643	Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Silent	SNP	ENST00000259803.7	37	CCDS4950.1																																																																																				0.443	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1		
EYS	346007	hgsc.bcm.edu	37	6	66204693	66204693	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:66204693G>T	ENST00000370621.3	-	4	1137	c.611C>A	c.(610-612)cCt>cAt	p.P204H	EYS_ENST00000370618.3_Missense_Mutation_p.P204H|EYS_ENST00000342421.5_Missense_Mutation_p.P204H|EYS_ENST00000503581.1_Missense_Mutation_p.P204H|EYS_ENST00000370616.2_Missense_Mutation_p.P204H|EYS_ENST00000393380.2_Missense_Mutation_p.P204H			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	204	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.P204H(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						AGAAAATGGAGGCTGGCAATG	0.398																																					p.P204H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C611A	6						.						47.0	45.0	46.0					6																	66204693		2203	4300	6503	66261414	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.611C>A	6.37:g.66204693G>T	ENSP00000359655:p.Pro204His		66261414	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		.	.	.	.	.	.	.	.	.	.	G	12.95	2.092633	0.36952	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29;-2.29	4.81	1.96	0.26148	.	.	.	.	.	T	0.63827	0.2544	N	0.14661	0.345	0.21290	N	0.999733	B;P;P	0.44429	0.206;0.612;0.835	B;B;P	0.45071	0.085;0.256;0.468	T	0.59075	-0.7522	9	0.56958	D	0.05	.	4.949	0.14004	0.1806:0.0:0.6516:0.1678	.	204;204;204	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	H	204	ENSP00000424243:P204H;ENSP00000359655:P204H;ENSP00000359650:P204H;ENSP00000377042:P204H;ENSP00000341818:P204H;ENSP00000359652:P204H	ENSP00000341818:P204H	P	-	2	0	EYS	66261414	0.982000	0.34865	0.702000	0.30337	0.978000	0.69477	1.948000	0.40303	0.155000	0.19261	0.591000	0.81541	CCT		0.398	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	
EYS	346007	hgsc.bcm.edu	37	6	66204714	66204714	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:66204714G>A	ENST00000370621.3	-	4	1116	c.590C>T	c.(589-591)aCa>aTa	p.T197I	EYS_ENST00000370618.3_Missense_Mutation_p.T197I|EYS_ENST00000342421.5_Missense_Mutation_p.T197I|EYS_ENST00000503581.1_Missense_Mutation_p.T197I|EYS_ENST00000370616.2_Missense_Mutation_p.T197I|EYS_ENST00000393380.2_Missense_Mutation_p.T197I			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	197	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.T197I(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						GCAGCTATATGTCTTGCTCCA	0.403																																					p.T197I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C590T	6						.						49.0	46.0	47.0					6																	66204714		2203	4300	6503	66261435	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.590C>T	6.37:g.66204714G>A	ENSP00000359655:p.Thr197Ile		66261435	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		.	.	.	.	.	.	.	.	.	.	G	9.090	1.001396	0.19121	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16;-3.16;-3.16	4.81	-1.83	0.07833	.	.	.	.	.	T	0.71745	0.3376	N	0.14661	0.345	0.09310	N	1	B;B;B	0.13594	0.0;0.003;0.008	B;B;B	0.16289	0.006;0.004;0.015	T	0.63413	-0.6643	9	0.51188	T	0.08	.	4.8396	0.13483	0.4082:0.0:0.4553:0.1365	.	197;197;197	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	I	197	ENSP00000424243:T197I;ENSP00000359655:T197I;ENSP00000359650:T197I;ENSP00000377042:T197I;ENSP00000341818:T197I;ENSP00000359652:T197I	ENSP00000341818:T197I	T	-	2	0	EYS	66261435	0.000000	0.05858	0.001000	0.08648	0.695000	0.40330	-0.105000	0.10907	-0.296000	0.08947	-0.216000	0.12614	ACA		0.403	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	
BAI3	577	hgsc.bcm.edu	37	6	70037713	70037713	+	Splice_Site	SNP	T	T	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:70037713T>G	ENST00000370598.1	+	22	3788	c.2967T>G	c.(2965-2967)ggT>ggG	p.G989G	BAI3_ENST00000238918.8_Splice_Site_p.G195G	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	989					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G989G(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTCTTGCAGGTTTACCAGCAT	0.398																																					p.G989G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2967G	6						.						132.0	111.0	118.0					6																	70037713		2203	4300	6503	70094434	SO:0001630	splice_region_variant	577	exon22			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2966-1T>G	6.37:g.70037713T>G			70094434	NM_001704	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	CCDS4968.1																																																																																				0.398	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		Silent
COL19A1	1310	hgsc.bcm.edu	37	6	70646706	70646706	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:70646706T>G	ENST00000322773.4	+	8	879	c.777T>G	c.(775-777)atT>atG	p.I259M		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	259					cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.I259M(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TTGGAAATATTGCATCATCAT	0.433																																					p.I259M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T777G	6						.						172.0	164.0	167.0					6																	70646706		2203	4300	6503	70703427	SO:0001583	missense	1310	exon8				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.777T>G	6.37:g.70646706T>G	ENSP00000316030:p.Ile259Met		70703427	NM_001858	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	T	4.848	0.157556	0.09236	.	.	ENSG00000082293	ENST00000322773	D	0.91577	-2.87	5.37	-2.43	0.06522	.	0.211149	0.37136	N	0.002240	T	0.58552	0.2130	N	0.14661	0.345	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.55386	-0.8149	10	0.48119	T	0.1	.	0.9339	0.01340	0.2155:0.1319:0.2217:0.4308	.	259	Q14993	COJA1_HUMAN	M	259	ENSP00000316030:I259M	ENSP00000316030:I259M	I	+	3	3	COL19A1	70703427	0.000000	0.05858	0.001000	0.08648	0.437000	0.31866	-0.679000	0.05203	-0.182000	0.10602	0.533000	0.62120	ATT		0.433	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1		
CD109	135228	hgsc.bcm.edu	37	6	74475866	74475866	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:74475866C>A	ENST00000287097.5	+	11	1433	c.1321C>A	c.(1321-1323)Cta>Ata	p.L441I	CD109_ENST00000422508.2_Missense_Mutation_p.L364I|CD109_ENST00000437994.2_Missense_Mutation_p.L441I			Q6YHK3	CD109_HUMAN	CD109 molecule	441					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.L441I(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTCCAGTGAGCTACAGTTGAA	0.413																																					p.L441I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1321A	6						.						58.0	53.0	55.0					6																	74475866		2203	4300	6503	74532587	SO:0001583	missense	135228	exon11			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.1321C>A	6.37:g.74475866C>A	ENSP00000287097:p.Leu441Ile		74532587	NM_133493	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974232	0.74246	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.25749	1.78;2.0;1.78	4.54	4.54	0.55810	.	0.272343	0.29884	N	0.010945	T	0.15305	0.0369	N	0.19112	0.55	0.25043	N	0.991181	D;D;B;P	0.89917	0.991;1.0;0.364;0.589	P;D;B;B	0.97110	0.894;1.0;0.341;0.223	T	0.08932	-1.0698	10	0.17369	T	0.5	.	7.0158	0.24887	0.0:0.8117:0.0:0.1883	.	364;441;441;441	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	I	441;364;441	ENSP00000388062:L441I;ENSP00000404475:L364I;ENSP00000287097:L441I	ENSP00000287097:L441I	L	+	1	2	CD109	74532587	0.873000	0.30073	0.612000	0.29024	0.914000	0.54420	2.027000	0.41078	2.499000	0.84300	0.462000	0.41574	CTA		0.413	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493	
IBTK	25998	hgsc.bcm.edu	37	6	82927836	82927836	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:82927836C>T	ENST00000306270.7	-	10	1816	c.1267G>A	c.(1267-1269)Gtc>Atc	p.V423I	IBTK_ENST00000510291.1_Missense_Mutation_p.V423I|IBTK_ENST00000503631.1_Missense_Mutation_p.V423I	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	423					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)	p.V423I(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GAACTGTTGACTGATCTCCAG	0.353																																					p.V423I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1267A	6						.						60.0	57.0	58.0					6																	82927836		2203	4300	6503	82984555	SO:0001583	missense	25998	exon10			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.1267G>A	6.37:g.82927836C>T	ENSP00000305721:p.Val423Ile		82984555	NM_015525	Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	C	8.469	0.857161	0.17106	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.27104	2.0;1.69;2.0	5.64	1.55	0.23275	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	0.648478	0.16170	N	0.226354	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	B;B;B;B	0.11235	0.001;0.001;0.004;0.001	B;B;B;B	0.09377	0.001;0.002;0.004;0.002	T	0.38887	-0.9640	10	0.36615	T	0.2	-0.7107	4.0094	0.09616	0.1165:0.4417:0.3009:0.141	.	423;423;423;423	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	I	423	ENSP00000305721:V423I;ENSP00000422762:V423I;ENSP00000426405:V423I	ENSP00000305721:V423I	V	-	1	0	IBTK	82984555	0.000000	0.05858	0.793000	0.32043	0.858000	0.48976	0.152000	0.16302	0.727000	0.32360	0.563000	0.77884	GTC		0.353	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525	
DOPEY1	23033	hgsc.bcm.edu	37	6	83819943	83819943	+	Silent	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:83819943A>G	ENST00000349129.2	+	6	851	c.591A>G	c.(589-591)ttA>ttG	p.L197L	DOPEY1_ENST00000536812.1_Silent_p.L197L|DOPEY1_ENST00000237163.5_Silent_p.L197L|DOPEY1_ENST00000369739.3_Silent_p.L197L	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	197					protein transport (GO:0015031)			p.L197L(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CTGTGCGTTTACCTGGAATCA	0.433																																					p.L197L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A591G	6						.						190.0	168.0	176.0					6																	83819943		2203	4300	6503	83876662	SO:0001819	synonymous_variant	23033	exon6			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.591A>G	6.37:g.83819943A>G			83876662	NM_015018	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Silent	SNP	ENST00000349129.2	37	CCDS4996.1																																																																																				0.433	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018	
ME1	4199	hgsc.bcm.edu	37	6	83937130	83937130	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:83937130C>T	ENST00000369705.3	-	11	1315	c.1199G>A	c.(1198-1200)cGg>cAg	p.R400Q	ME1_ENST00000541327.1_Missense_Mutation_p.R234Q|ME1_ENST00000543031.1_Missense_Mutation_p.R325Q	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	400					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)	p.R400Q(1)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		AATAATAGGCCGTTCATTGAA	0.363																																					p.R400Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1199A	6						.						88.0	84.0	85.0					6																	83937130		2203	4300	6503	83993849	SO:0001583	missense	4199	exon11			X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.1199G>A	6.37:g.83937130C>T	ENSP00000358719:p.Arg400Gln		83993849	NM_002395	B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Missense_Mutation	SNP	ENST00000369705.3	37	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028018	0.75390	.	.	ENSG00000065833	ENST00000369705;ENST00000540036;ENST00000541327;ENST00000543031	T;T;T	0.47528	0.84;0.84;0.84	5.96	5.96	0.96718	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.277748	0.39475	N	0.001353	T	0.33265	0.0857	M	0.69248	2.105	0.49687	D	0.999819	P	0.37955	0.612	B	0.28553	0.091	T	0.42849	-0.9427	10	0.72032	D	0.01	-15.5515	15.5397	0.76031	0.0:0.9324:0.0:0.0676	.	400	P48163	MAOX_HUMAN	Q	400;60;234;325	ENSP00000358719:R400Q;ENSP00000439912:R234Q;ENSP00000446114:R325Q	ENSP00000358719:R400Q	R	-	2	0	ME1	83993849	0.797000	0.28877	1.000000	0.80357	0.984000	0.73092	1.245000	0.32790	2.833000	0.97629	0.555000	0.69702	CGG		0.363	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1		
TBX18	9096	hgsc.bcm.edu	37	6	85446441	85446441	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:85446441T>G	ENST00000369663.5	-	8	2123	c.1786A>C	c.(1786-1788)Act>Cct	p.T596P	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	596					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.T596P(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GATGACAGAGTTAAGCTTCCT	0.428																																					p.T596P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1786C	6						.						62.0	62.0	62.0					6																	85446441		2203	4300	6503	85503160	SO:0001583	missense	9096	exon8			AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1786A>C	6.37:g.85446441T>G	ENSP00000358677:p.Thr596Pro		85503160	NM_001080508	A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	T	9.087	1.000803	0.19121	.	.	ENSG00000112837	ENST00000369663	D	0.86627	-2.15	5.41	5.41	0.78517	.	0.384020	0.31427	N	0.007676	T	0.49150	0.1540	N	0.03608	-0.345	0.42239	D	0.991926	B	0.02656	0.0	B	0.04013	0.001	T	0.54057	-0.8350	10	0.07813	T	0.8	.	7.4556	0.27264	0.1413:0.0:0.1474:0.7113	.	596	O95935	TBX18_HUMAN	P	596	ENSP00000358677:T596P	ENSP00000358677:T596P	T	-	1	0	TBX18	85503160	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.754000	0.38369	2.046000	0.60703	0.477000	0.44152	ACT		0.428	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508	
MDN1	23195	hgsc.bcm.edu	37	6	90402749	90402749	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:90402749C>T	ENST00000369393.3	-	63	10115	c.10000G>A	c.(10000-10002)Gtc>Atc	p.V3334I	MDN1_ENST00000428876.1_Missense_Mutation_p.V3334I			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3334					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.V3334I(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATGCTGGTGACGTAGTGGTGG	0.577																																					p.V3334I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10000A	6						.						80.0	69.0	73.0					6																	90402749		2203	4300	6503	90459470	SO:0001583	missense	23195	exon63			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.10000G>A	6.37:g.90402749C>T	ENSP00000358400:p.Val3334Ile		90459470	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	8.460	0.855029	0.17106	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03124	4.04;4.04	5.29	1.27	0.21489	.	0.504203	0.20747	N	0.086423	T	0.00784	0.0026	L	0.38838	1.175	0.23669	N	0.997155	B	0.09022	0.002	B	0.06405	0.002	T	0.48833	-0.9000	10	0.23302	T	0.38	.	2.0112	0.03488	0.1267:0.4451:0.1237:0.3046	.	3334	Q9NU22	MDN1_HUMAN	I	3334	ENSP00000358400:V3334I;ENSP00000413970:V3334I	ENSP00000358400:V3334I	V	-	1	0	MDN1	90459470	0.110000	0.22057	0.579000	0.28588	0.538000	0.34931	0.372000	0.20467	0.321000	0.23259	0.491000	0.48974	GTC		0.577	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
MDN1	23195	hgsc.bcm.edu	37	6	90482415	90482415	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:90482415G>A	ENST00000369393.3	-	14	2075	c.1960C>T	c.(1960-1962)Cgg>Tgg	p.R654W	MDN1_ENST00000428876.1_Missense_Mutation_p.R654W			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	654					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.R654W(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GAGGACGGCCGTGTAGCAGCG	0.502																																					p.R654W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1960T	6						.						89.0	93.0	92.0					6																	90482415		2203	4300	6503	90539136	SO:0001583	missense	23195	exon14			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.1960C>T	6.37:g.90482415G>A	ENSP00000358400:p.Arg654Trp		90539136	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995850	0.54147	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.20881	3.77;3.77;2.04	5.65	1.52	0.23074	.	0.000000	0.85682	D	0.000000	T	0.34308	0.0893	M	0.84433	2.695	0.54753	D	0.999989	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.986	T	0.27191	-1.0081	10	0.72032	D	0.01	.	10.0767	0.42364	0.0721:0.0:0.6539:0.274	.	581;654	Q5T795;Q9NU22	.;MDN1_HUMAN	W	654;654;581	ENSP00000358400:R654W;ENSP00000413970:R654W;ENSP00000409664:R581W	ENSP00000358400:R654W	R	-	1	2	MDN1	90539136	1.000000	0.71417	0.012000	0.15200	0.995000	0.86356	3.536000	0.53582	-0.024000	0.13941	0.650000	0.86243	CGG		0.502	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
POU3F2	5454	hgsc.bcm.edu	37	6	99283822	99283822	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:99283822G>A	ENST00000328345.5	+	1	1243	c.1073G>A	c.(1072-1074)cGg>cAg	p.R358Q		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	358					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R358Q(1)		endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		CGGAAAAAGCGGACCTCCATC	0.607																																					p.R358Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1073A	6						.						70.0	78.0	76.0					6																	99283822		2203	4300	6503	99390543	SO:0001583	missense	5454	exon1			Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"""Homeoboxes / POU class"""	9215	protein-coding gene	gene with protein product		600494	"""POU domain class 3, transcription factor 2"""	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.1073G>A	6.37:g.99283822G>A	ENSP00000329170:p.Arg358Gln		99390543	NM_005604	Q14960|Q86V54|Q9UJL0	Missense_Mutation	SNP	ENST00000328345.5	37	CCDS5040.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927568	0.92389	.	.	ENSG00000184486	ENST00000328345;ENST00000425116	D	0.99150	-5.49	4.66	4.66	0.58398	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	0.000000	0.64402	U	0.000005	D	0.99585	0.9850	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.97772	1.0227	10	0.87932	D	0	.	16.4792	0.84153	0.0:0.0:1.0:0.0	.	358	P20265	PO3F2_HUMAN	Q	358;291	ENSP00000329170:R358Q	ENSP00000329170:R358Q	R	+	2	0	POU3F2	99390543	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.624000	0.98398	2.407000	0.81776	0.555000	0.69702	CGG		0.607	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2		
THBS2	7058	hgsc.bcm.edu	37	6	169632192	169632192	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr6:169632192G>A	ENST00000366787.3	-	14	2283	c.2034C>T	c.(2032-2034)tgC>tgT	p.C678C	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	678	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.C678C(2)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TCTGGCACTCGCACTTGTACA	0.622																																					p.C678C	Esophageal Squamous(91;219 1934 18562 44706)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2034T	6						.						194.0	163.0	173.0					6																	169632192		2203	4300	6503	169374117	SO:0001819	synonymous_variant	7058	exon14				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2034C>T	6.37:g.169632192G>A			169374117	NM_003247	A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	CCDS34574.1																																																																																				0.622	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247	
MYH4	4622	hgsc.bcm.edu	37	17	10346810	10346810	+	Missense_Mutation	SNP	C	C	T	rs201770076		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:10346810C>T	ENST00000255381.2	-	40	5812	c.5702G>A	c.(5701-5703)cGc>cAc	p.R1901H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1901					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.R1901H(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTGGAGCTTGCGGAACTTGGC	0.468																																					p.R1901H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5702A	17						.						115.0	105.0	108.0					17																	10346810		2203	4300	6503	10287535	SO:0001583	missense	4622	exon40				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5702G>A	17.37:g.10346810C>T	ENSP00000255381:p.Arg1901His		10287535	NM_017533		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698531	0.88830	.	.	ENSG00000141048	ENST00000255381	D	0.85171	-1.95	5.19	3.22	0.36961	Myosin tail (1);	0.000000	0.38111	U	0.001812	D	0.94394	0.8197	H	0.96576	3.845	0.45161	D	0.998171	D	0.89917	1.0	D	0.97110	1.0	D	0.94991	0.8134	10	0.87932	D	0	.	12.1412	0.53998	0.0:0.8612:0.0:0.1388	.	1901	Q9Y623	MYH4_HUMAN	H	1901	ENSP00000255381:R1901H	ENSP00000255381:R1901H	R	-	2	0	MYH4	10287535	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.791000	0.62460	0.901000	0.36495	0.655000	0.94253	CGC		0.468	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	
MYH3	4621	hgsc.bcm.edu	37	17	10541231	10541231	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:10541231G>A	ENST00000583535.1	-	28	3838	c.3751C>T	c.(3751-3753)Cga>Tga	p.R1251*	MYH3_ENST00000226209.7_Nonsense_Mutation_p.R1251*	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1251					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.R1251*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCCAGGGTTCGGCAGATTTTT	0.502																																					p.R1251X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3751T	17						.						62.0	57.0	59.0					17																	10541231		2203	4300	6503	10481956	SO:0001587	stop_gained	4621	exon27				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.3751C>T	17.37:g.10541231G>A	ENSP00000464317:p.Arg1251*		10481956	NM_002470	Q15492	Nonsense_Mutation	SNP	ENST00000583535.1	37	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	G	41	8.977960	0.99023	.	.	ENSG00000109063	ENST00000226209	.	.	.	5.36	3.28	0.37604	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.456	0.67416	0.0:0.0:0.7313:0.2687	.	.	.	.	X	1251	.	ENSP00000226209:R1251X	R	-	1	2	MYH3	10481956	1.000000	0.71417	0.963000	0.40424	0.622000	0.37654	3.608000	0.54109	0.681000	0.31386	0.655000	0.94253	CGA		0.502	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470	
EPN2	22905	hgsc.bcm.edu	37	17	19186604	19186604	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:19186604A>G	ENST00000314728.5	+	3	656	c.172A>G	c.(172-174)Agc>Ggc	p.S58G	EPN2_ENST00000395618.3_Intron|EPN2_ENST00000571254.1_Missense_Mutation_p.S58G|EPN2_ENST00000575595.1_Intron|EPN2_ENST00000395626.1_Missense_Mutation_p.S58G|EPN2_ENST00000347697.2_Missense_Mutation_p.S58G|EPN2_ENST00000395620.2_Missense_Mutation_p.S58G	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	58	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)	p.S58G(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					GGAGATCATGAGCATGGTGTG	0.592																																					p.S58G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A172G	17						.						150.0	123.0	132.0					17																	19186604		2203	4300	6503	19127197	SO:0001583	missense	22905	exon3			AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"""Eps15 binding protein"""	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.172A>G	17.37:g.19186604A>G	ENSP00000320543:p.Ser58Gly		19127197	NM_014964	A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Missense_Mutation	SNP	ENST00000314728.5	37	CCDS11203.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.312484	0.40895	.	.	ENSG00000072134	ENST00000347697;ENST00000314728;ENST00000395628;ENST00000395620;ENST00000395626	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.47	5.47	0.80525	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.034459	0.85682	D	0.000000	T	0.44519	0.1297	N	0.11845	0.185	0.58432	D	0.999998	D;B;B;D;D;B	0.89917	1.0;0.049;0.064;0.998;1.0;0.07	D;B;B;D;D;B	0.79784	0.993;0.028;0.06;0.99;0.993;0.088	T	0.36311	-0.9753	10	0.15952	T	0.53	-32.088	15.8431	0.78864	1.0:0.0:0.0:0.0	.	58;58;58;58;58;58	Q52LD0;B7ZKM5;E9PBC1;E7EMC3;E9PBC2;O95208	.;.;.;.;.;EPN2_HUMAN	G	58	ENSP00000261495:S58G;ENSP00000320543:S58G;ENSP00000378990:S58G;ENSP00000378982:S58G;ENSP00000378988:S58G	ENSP00000320543:S58G	S	+	1	0	EPN2	19127197	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.353000	0.79414	2.205000	0.71048	0.533000	0.62120	AGC		0.592	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964	
KCNJ12	3768	hgsc.bcm.edu	37	17	21318918	21318918	+	Silent	SNP	G	G	A	rs79626424	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:21318918G>A	ENST00000583088.1	+	3	1159	c.264G>A	c.(262-264)tcG>tcA	p.S88S	KCNJ12_ENST00000331718.5_Silent_p.S88S	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	88					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TCATCTTCTCGCTGGCCTTCC	0.617										Prostate(3;0.18)																											p.S88S												.	.	0			c.G264A	17						.																																			21259511	SO:0001819	synonymous_variant	3768	exon3			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.264G>A	17.37:g.21318918G>A			21259511	NM_021012	O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	CCDS11219.1																																																																																				0.617	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012	
FOXN1	8456	hgsc.bcm.edu	37	17	26861442	26861442	+	Missense_Mutation	SNP	C	C	T	rs141965955		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:26861442C>T	ENST00000226247.2	+	6	1050	c.1021C>T	c.(1021-1023)Cgc>Tgc	p.R341C	FOXN1_ENST00000579795.1_Missense_Mutation_p.R341C	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	341					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R341C(1)		endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					AAGTTCCTCCCGCAAGGGCTG	0.542																																					p.R341C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1021T	17						.	C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	74.0	73.0	73.0		1021	5.7	1.0	17	dbSNP_134	73	0,8600		0,0,4300	no	missense	FOXN1	NM_003593.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	341/649	26861442	1,13005	2203	4300	6503	23885569	SO:0001583	missense	8456	exon6			Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.1021C>T	17.37:g.26861442C>T	ENSP00000226247:p.Arg341Cys		23885569	NM_003593	B2R9Q7|O15352	Missense_Mutation	SNP	ENST00000226247.2	37	CCDS11232.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421871	0.83559	2.27E-4	0.0	ENSG00000109101	ENST00000226247	D	0.95412	-3.7	5.73	5.73	0.89815	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.079825	0.51477	D	0.000087	D	0.98327	0.9445	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98903	1.0777	10	0.87932	D	0	.	19.8853	0.96910	0.0:1.0:0.0:0.0	.	341	O15353	FOXN1_HUMAN	C	341	ENSP00000226247:R341C	ENSP00000226247:R341C	R	+	1	0	FOXN1	23885569	0.984000	0.35163	0.990000	0.47175	0.936000	0.57629	2.514000	0.45503	2.701000	0.92244	0.655000	0.94253	CGC		0.542	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1		
SUPT6H	6830	hgsc.bcm.edu	37	17	27014406	27014406	+	Missense_Mutation	SNP	C	C	T	rs143373760	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:27014406C>T	ENST00000314616.6	+	23	3206	c.2923C>T	c.(2923-2925)Cgt>Tgt	p.R975C	SUPT6H_ENST00000347486.4_Missense_Mutation_p.R975C	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	975	Interaction with KDM6A. {ECO:0000250}.				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.R975C(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)					CGATGTCAACCGTGCCATTGC	0.532																																					p.R975C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2923T	17						.	C	CYS/ARG	0,4406		0,0,2203	99.0	81.0	87.0		2923	5.6	1.0	17	dbSNP_134	87	2,8598	2.2+/-6.3	0,2,4298	no	missense	SUPT6H	NM_003170.3	180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	975/1727	27014406	2,13004	2203	4300	6503	24038533	SO:0001583	missense	6830	exon23			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.2923C>T	17.37:g.27014406C>T	ENSP00000319104:p.Arg975Cys		24038533	NM_003170	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146984	0.77888	0.0	2.33E-4	ENSG00000109111	ENST00000314616	.	.	.	5.59	5.59	0.84812	.	0.113798	0.64402	D	0.000014	T	0.75796	0.3898	M	0.82517	2.595	0.80722	D	1	D	0.76494	0.999	P	0.56216	0.794	T	0.79077	-0.1951	9	0.59425	D	0.04	-7.8747	13.9867	0.64339	0.2795:0.7205:0.0:0.0	.	975	Q7KZ85	SPT6H_HUMAN	C	975	.	ENSP00000319104:R975C	R	+	1	0	SUPT6H	24038533	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.095000	0.41729	2.649000	0.89929	0.557000	0.71058	CGT		0.532	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	27022441	27022441	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:27022441C>T	ENST00000314616.6	+	29	4129	c.3846C>T	c.(3844-3846)cgC>cgT	p.R1282R	SUPT6H_ENST00000347486.4_Silent_p.R1282R	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1282	Interaction with KDM6A. {ECO:0000250}.|S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.				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.R1282R(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)					TGACCTGCCGCACCTCAGACC	0.502																																					p.R1282R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3846T	17						.						124.0	96.0	105.0					17																	27022441		2203	4300	6503	24046568	SO:0001819	synonymous_variant	6830	exon29			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.3846C>T	17.37:g.27022441C>T			24046568	NM_003170	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	CCDS32596.1																																																																																				0.502	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170	
CORO6	84940	hgsc.bcm.edu	37	17	27943992	27943992	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:27943992G>A	ENST00000445145.2	-	6	823	c.822C>T	c.(820-822)taC>taT	p.Y274Y	CORO6_ENST00000577909.1_Intron|CORO6_ENST00000345068.5_Silent_p.Y274Y|CORO6_ENST00000456796.3_Silent_p.Y40Y|CORO6_ENST00000584969.1_Silent_p.Y274Y|CORO6_ENST00000388767.3_Silent_p.Y274Y|CORO6_ENST00000580212.1_Silent_p.Y234Y|RP11-68I3.2_ENST00000581474.1_RNA			Q6QEF8	CORO6_HUMAN	coronin 6	274					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)	p.Y274Y(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						AGTCGGGATCGTAAAAGGGCA	0.622																																					p.Y274Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C822T	17						.						184.0	168.0	174.0					17																	27943992		2203	4300	6503	24968118	SO:0001819	synonymous_variant	84940	exon6			AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"""Coronins"", ""WD repeat domain containing"""	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.822C>T	17.37:g.27943992G>A			24968118	NM_032854	B3KU26|Q71MF3|Q8WYH7|Q96K02	Silent	SNP	ENST00000445145.2	37																																																																																					0.622	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000447831.1	NM_032854	
SSH2	85464	hgsc.bcm.edu	37	17	28257015	28257015	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:28257015C>T	ENST00000269033.3	-	1	155	c.4G>A	c.(4-6)Gct>Act	p.A2T	SSH2_ENST00000579954.1_Missense_Mutation_p.A2T|EFCAB5_ENST00000534836.2_Intron|SSH2_ENST00000590153.1_Missense_Mutation_p.A2T|EFCAB5_ENST00000536908.2_Intron|SSH2_ENST00000540801.1_Missense_Mutation_p.A2T|SSH2_ENST00000582084.1_Missense_Mutation_p.A2T|EFCAB5_ENST00000541045.1_Intron	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	2					actin cytoskeleton organization (GO:0030036)|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)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A2T(1)	SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGACCAAAGCCATCTAGGCG	0.672																																					p.A2T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4A	17						.						45.0	40.0	42.0					17																	28257015		2198	4297	6495	25281141	SO:0001583	missense	85464	exon1			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.4G>A	17.37:g.28257015C>T	ENSP00000269033:p.Ala2Thr		25281141	NM_033389	Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	c	15.50	2.851232	0.51270	.	.	ENSG00000141298	ENST00000269033;ENST00000540801;ENST00000394848	T;T	0.18657	2.43;2.2	4.32	4.32	0.51571	.	.	.	.	.	T	0.38904	0.1058	M	0.64170	1.965	0.80722	D	1	P;B;D;D	0.69078	0.799;0.447;0.996;0.997	B;B;P;D	0.63381	0.362;0.093;0.894;0.914	T	0.06534	-1.0821	9	0.29301	T	0.29	-7.1368	14.7607	0.69604	0.0:1.0:0.0:0.0	.	2;2;2;2	F5H527;Q76I76-3;Q76I76-4;Q76I76	.;.;.;SSH2_HUMAN	T	2	ENSP00000269033:A2T;ENSP00000444743:A2T	ENSP00000269033:A2T	A	-	1	0	SSH2	25281141	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.047000	0.64232	2.403000	0.81681	0.639000	0.83563	GCT		0.672	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389	
SLC6A4	6532	hgsc.bcm.edu	37	17	28537639	28537639	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:28537639G>A	ENST00000401766.2	-	10	1855	c.1343C>T	c.(1342-1344)aCg>aTg	p.T448M	SLC6A4_ENST00000261707.3_Missense_Mutation_p.T448M			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	448					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)	p.T448M(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	CAGCACAGCCGTGATCACCCC	0.612																																					p.T448M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1343T	17						.						90.0	85.0	86.0					17																	28537639		2203	4300	6503	25561765	SO:0001583	missense	6532	exon11			L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.1343C>T	17.37:g.28537639G>A	ENSP00000385822:p.Thr448Met		25561765	NM_001045	Q5EE02	Missense_Mutation	SNP	ENST00000401766.2	37	CCDS11256.1	.	.	.	.	.	.	.	.	.	.	G	35	5.450481	0.96205	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.80393	-1.37;-1.37	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.94417	0.8204	H	0.98276	4.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95850	0.8874	10	0.87932	D	0	.	19.5674	0.95401	0.0:0.0:1.0:0.0	.	448	P31645	SC6A4_HUMAN	M	490;448;448	ENSP00000385822:T448M;ENSP00000261707:T448M	ENSP00000261707:T448M	T	-	2	0	SLC6A4	25561765	1.000000	0.71417	0.971000	0.41717	0.972000	0.66771	9.623000	0.98386	2.873000	0.98535	0.561000	0.74099	ACG		0.612	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045	
OMG	4974	hgsc.bcm.edu	37	17	29622459	29622459	+	Silent	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:29622459T>C	ENST00000247271.4	-	2	1152	c.891A>G	c.(889-891)caA>caG	p.Q297Q	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	297					cell adhesion (GO:0007155)|negative regulation of axonogenesis (GO:0050771)|neuron projection regeneration (GO:0031102)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|regulation of collateral sprouting of intact axon in response to injury (GO:0048683)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.0?(8)|p.?(3)|p.Q297Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		TCACTTTGGGTTGAGTTACCA	0.423																																					p.Q297Q												.	.	12	Whole gene deletion(8)|Unknown(3)|Substitution - coding silent(1)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|large_intestine(1)|central_nervous_system(1)	c.A891G	17						.						243.0	211.0	222.0					17																	29622459		2203	4300	6503	26646585	SO:0001819	synonymous_variant	4974	exon2				CCDS11265.1	17q11-q12	2008-07-18			ENSG00000126861	ENSG00000126861			8135	protein-coding gene	gene with protein product		164345				1899288, 2277079	Standard	NM_002544		Approved	OMGP	uc002hgj.3	P23515	OTTHUMG00000132870	ENST00000247271.4:c.891A>G	17.37:g.29622459T>C			26646585	NM_002544	E1P659	Silent	SNP	ENST00000247271.4	37	CCDS11265.1																																																																																				0.423	OMG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256350.2	NM_002544	
CACNB1	782	hgsc.bcm.edu	37	17	37347745	37347745	+	Silent	SNP	C	C	T	rs142968664	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:37347745C>T	ENST00000394303.3	-	3	480	c.273G>A	c.(271-273)gcG>gcA	p.A91A	CACNB1_ENST00000394310.3_Silent_p.A91A|CACNB1_ENST00000344140.5_Silent_p.A91A|CACNB1_ENST00000582877.1_5'UTR	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	91					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.A91A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TCTCGAGCTGCGCTAATGCCT	0.592																																					p.A91A	Esophageal Squamous(5;100 366 38393 41452 45827)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G273A	17						.	C	,,	3,4403	6.2+/-15.9	0,3,2200	152.0	116.0	128.0		273,273,273	-9.0	0.8	17	dbSNP_134	128	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CACNB1	NM_000723.3,NM_199247.1,NM_199248.1	,,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,,	91/599,91/524,91/479	37347745	3,13003	2203	4300	6503	34601271	SO:0001819	synonymous_variant	782	exon3				CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.273G>A	17.37:g.37347745C>T			34601271	NM_000723	A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Silent	SNP	ENST00000394303.3	37	CCDS42311.1																																																																																				0.592	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3		
STARD3	10948	hgsc.bcm.edu	37	17	37809967	37809967	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:37809967G>A	ENST00000336308.5	+	2	401	c.183G>A	c.(181-183)ctG>ctA	p.L61L	STARD3_ENST00000544210.2_Silent_p.L61L|STARD3_ENST00000580611.1_Silent_p.L61L|STARD3_ENST00000394250.4_Silent_p.L61L|STARD3_ENST00000578232.1_3'UTR	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	61	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.				cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)	p.L61L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCTTCGACCTGCTCTTCATCT	0.612											OREG0024381	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L61L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G183A	17						.						120.0	93.0	102.0					17																	37809967		2203	4300	6503	35063493	SO:0001819	synonymous_variant	10948	exon2				CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"""StAR-related lipid transfer (START) domain containing"""	17579	protein-coding gene	gene with protein product		607048	"""START domain containing 3"""				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.183G>A	17.37:g.37809967G>A		873	35063493	NM_001165938	A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Silent	SNP	ENST00000336308.5	37	CCDS11341.1																																																																																				0.612	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256933.1		
ERBB2	2064	hgsc.bcm.edu	37	17	37881621	37881621	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:37881621G>A	ENST00000269571.5	+	22	2850	c.2691G>A	c.(2689-2691)cgG>cgA	p.R897R	ERBB2_ENST00000540147.1_Silent_p.R867R|ERBB2_ENST00000406381.2_Silent_p.R867R|ERBB2_ENST00000584450.1_Silent_p.R897R|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000541774.1_Silent_p.R882R|ERBB2_ENST00000445658.2_Silent_p.R621R|ERBB2_ENST00000584601.1_Silent_p.R867R			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	897	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.R897R(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	TTCTCCGCCGGCGGTTCACCC	0.612		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																											p.R867R			Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2601A	17						.						66.0	65.0	65.0					17																	37881621		2203	4300	6503	35135147	SO:0001819	synonymous_variant	2064	exon25			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2691G>A	17.37:g.37881621G>A			35135147	NM_001005862	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	ENST00000269571.5	37	CCDS32642.1																																																																																				0.612	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2		
ITGAE	3682	hgsc.bcm.edu	37	17	3635748	3635748	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:3635748T>C	ENST00000263087.4	-	22	2766	c.2668A>G	c.(2668-2670)Aac>Gac	p.N890D	ITGAE_ENST00000571185.1_5'UTR|CTD-3195I5.4_ENST00000575043.1_RNA	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	890					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.N890D(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CACTGAATGTTTGGAGAGGGA	0.463																																					p.N890D	NSCLC(182;635 2928 8995 38788)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2668G	17						.						131.0	111.0	118.0					17																	3635748		2203	4300	6503	3582497	SO:0001583	missense	3682	exon22			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.2668A>G	17.37:g.3635748T>C	ENSP00000263087:p.Asn890Asp		3582497	NM_002208	Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	T	2.159	-0.392745	0.04899	.	.	ENSG00000083457	ENST00000263087	T	0.43294	0.95	5.12	-10.2	0.00374	Integrin alpha-2 (1);	.	.	.	.	T	0.12178	0.0296	N	0.01015	-1.05	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.46219	-0.9207	9	0.10111	T	0.7	.	14.4295	0.67240	0.0:0.6833:0.1775:0.1393	.	890	P38570	ITAE_HUMAN	D	890	ENSP00000263087:N890D	ENSP00000263087:N890D	N	-	1	0	ITGAE	3582497	0.000000	0.05858	0.131000	0.22000	0.973000	0.67179	-1.041000	0.03542	-1.776000	0.01285	0.486000	0.48141	AAC		0.463	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208	
CASC3	22794	hgsc.bcm.edu	37	17	38320310	38320310	+	Silent	SNP	G	G	T	rs185162031	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:38320310G>T	ENST00000264645.7	+	7	1588	c.1362G>T	c.(1360-1362)ccG>ccT	p.P454P		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	454	Necessary for localization in cytoplasmic stress granules.				gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)	p.P454P(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GGGAAGCTCCGGTGGATTCTA	0.547																																					p.P454P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1362T	17						.						58.0	54.0	55.0					17																	38320310		2203	4300	6503	35573836	SO:0001819	synonymous_variant	22794	exon7			X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.1362G>T	17.37:g.38320310G>T			35573836	NM_007359	A8K8R0	Silent	SNP	ENST00000264645.7	37	CCDS11362.1																																																																																				0.547	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359	
TNS4	84951	hgsc.bcm.edu	37	17	38652435	38652435	+	Silent	SNP	C	C	T	rs370752798		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:38652435C>T	ENST00000254051.6	-	2	401	c.243G>A	c.(241-243)ccG>ccA	p.P81P		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	81					apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)		p.P81P(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CACCAGGGGACGGCAGGAAGC	0.647																																					p.P81P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G243A	17						.	C		0,4406		0,0,2203	65.0	66.0	66.0		243	-5.1	0.0	17		66	1,8599	2.2+/-6.3	0,1,4299	no	coding-synonymous	TNS4	NM_032865.5		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		81/716	38652435	1,13005	2203	4300	6503	35905961	SO:0001819	synonymous_variant	84951	exon2			AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.243G>A	17.37:g.38652435C>T			35905961	NM_032865	A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Silent	SNP	ENST00000254051.6	37	CCDS11368.1																																																																																				0.647	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865	
KRT37	8688	hgsc.bcm.edu	37	17	39580364	39580364	+	Missense_Mutation	SNP	C	C	T	rs369798171	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:39580364C>T	ENST00000225550.3	-	1	411	c.412G>A	c.(412-414)Gag>Aag	p.E138K	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	138	Coil 1A.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.E138K(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TTGCTCCTCTCGAGGAGTGTG	0.592																																					p.E138K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G412A	17						.						113.0	92.0	99.0					17																	39580364		2203	4300	6503	36833890	SO:0001583	missense	8688	exon1			Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.412G>A	17.37:g.39580364C>T	ENSP00000225550:p.Glu138Lys		36833890	NM_003770		Missense_Mutation	SNP	ENST00000225550.3	37	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	.	15.06	2.720500	0.48728	.	.	ENSG00000108417	ENST00000225550	D	0.89617	-2.54	4.69	3.65	0.41850	Filament (1);	0.000000	0.49916	D	0.000126	D	0.94591	0.8257	M	0.91818	3.245	0.27790	N	0.942855	D	0.76494	0.999	D	0.63703	0.917	D	0.89371	0.3675	10	0.87932	D	0	.	13.3123	0.60386	0.0:0.8403:0.1597:0.0	.	138	O76014	KRT37_HUMAN	K	138	ENSP00000225550:E138K	ENSP00000225550:E138K	E	-	1	0	KRT37	36833890	0.988000	0.35896	0.038000	0.18304	0.135000	0.20990	2.607000	0.46300	2.169000	0.68431	0.655000	0.94253	GAG		0.592	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770	
KLHL11	55175	hgsc.bcm.edu	37	17	40010658	40010658	+	Silent	SNP	T	T	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:40010658T>G	ENST00000319121.3	-	2	1521	c.1461A>C	c.(1459-1461)gcA>gcC	p.A487A	RP11-156E6.1_ENST00000560400.1_RNA	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	487								p.A487A(1)		NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				GAATCTTTGGTGCCGATTCCA	0.443																																					p.A487A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1461C	17						.						92.0	84.0	87.0					17																	40010658		2203	4300	6503	37264184	SO:0001819	synonymous_variant	55175	exon2				CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"""Kelch-like"", ""BTB/POZ domain containing"""	19008	protein-coding gene	gene with protein product			"""kelch-like 11 (Drosophila)"""				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.1461A>C	17.37:g.40010658T>G			37264184	NM_018143		Silent	SNP	ENST00000319121.3	37	CCDS11411.1																																																																																				0.443	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143	
ZZEF1	23140	hgsc.bcm.edu	37	17	3921021	3921021	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:3921021G>A	ENST00000381638.2	-	48	7769	c.7645C>T	c.(7645-7647)Cgg>Tgg	p.R2549W		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2549							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.R2549W(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CGTGCAGGCCGGGACTGCAAA	0.577																																					p.R2549W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7645T	17						.						78.0	78.0	78.0					17																	3921021		2203	4300	6503	3867770	SO:0001583	missense	23140	exon48			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.7645C>T	17.37:g.3921021G>A	ENSP00000371051:p.Arg2549Trp		3867770	NM_015113	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082607	0.55861	.	.	ENSG00000074755	ENST00000381638	T	0.22134	1.97	5.29	0.77	0.18497	.	0.195167	0.42294	D	0.000732	T	0.08714	0.0216	N	0.14661	0.345	0.37182	D	0.903538	D	0.63880	0.993	B	0.39299	0.296	T	0.23833	-1.0177	10	0.59425	D	0.04	-13.7027	3.7049	0.08397	0.0864:0.1077:0.3163:0.4896	.	2549	O43149	ZZEF1_HUMAN	W	2549	ENSP00000371051:R2549W	ENSP00000371051:R2549W	R	-	1	2	ZZEF1	3867770	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.543000	0.45752	0.617000	0.30160	-0.143000	0.13931	CGG		0.577	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113	
ZZEF1	23140	hgsc.bcm.edu	37	17	3924558	3924558	+	Silent	SNP	G	G	A	rs143887026	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:3924558G>A	ENST00000381638.2	-	45	7393	c.7269C>T	c.(7267-7269)caC>caT	p.H2423H		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2423							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.H2423H(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTAGGTCTCCGTGCTCAGCCA	0.542													G|||	4	0.000798722	0.0023	0.0	5008	,	,		18303	0.0		0.001	False		,,,				2504	0.0				p.H2423H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7269T	17						.	G		0,4406		0,0,2203	89.0	81.0	84.0		7269	-9.7	0.0	17	dbSNP_134	84	4,8596	3.7+/-12.6	0,4,4296	yes	coding-synonymous	ZZEF1	NM_015113.3		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		2423/2962	3924558	4,13002	2203	4300	6503	3871307	SO:0001819	synonymous_variant	23140	exon45			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.7269C>T	17.37:g.3924558G>A			3871307	NM_015113	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	CCDS11043.1																																																																																				0.542	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113	
AOC3	8639	hgsc.bcm.edu	37	17	41004534	41004534	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:41004534G>T	ENST00000308423.2	+	1	1334	c.1174G>T	c.(1174-1176)Ggc>Tgc	p.G392C	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	392					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.G392C(1)		breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CTTTGGCATGGGCAAGTACAC	0.567																																					p.G392C	NSCLC(3;192 220 10664 11501 16477)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1174T	17						.						84.0	72.0	76.0					17																	41004534		2203	4300	6503	38258060	SO:0001583	missense	8639	exon1			AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1174G>T	17.37:g.41004534G>T	ENSP00000312326:p.Gly392Cys		38258060	NM_003734	B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281780	0.80692	.	.	ENSG00000131471	ENST00000308423	T	0.47869	0.83	4.64	4.64	0.57946	Copper amine oxidase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.76550	0.4003	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83255	-0.0051	10	0.87932	D	0	.	18.0666	0.89392	0.0:0.0:1.0:0.0	.	392	Q16853	AOC3_HUMAN	C	392	ENSP00000312326:G392C	ENSP00000312326:G392C	G	+	1	0	AOC3	38258060	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.556000	0.98127	2.591000	0.87537	0.591000	0.81541	GGC		0.567	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734	
DHX8	1659	hgsc.bcm.edu	37	17	41571136	41571136	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:41571136G>A	ENST00000262415.3	+	8	1166	c.1094G>A	c.(1093-1095)cGg>cAg	p.R365Q	DHX8_ENST00000540306.1_Missense_Mutation_p.R365Q	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	365					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.R365Q(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ACCTCAATGCGGAATCCTGAT	0.512																																					p.R365Q	NSCLC(56;1548 1661 49258 49987)											.	.	2	Substitution - Missense(2)	large_intestine(1)|central_nervous_system(1)	c.G1094A	17						.						174.0	181.0	178.0					17																	41571136		2203	4300	6503	38926662	SO:0001583	missense	1659	exon8			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.1094G>A	17.37:g.41571136G>A	ENSP00000262415:p.Arg365Gln		38926662	NM_004941		Missense_Mutation	SNP	ENST00000262415.3	37	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.992081	0.74703	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.03242	4.0;4.0	5.89	5.89	0.94794	.	0.045575	0.85682	D	0.000000	T	0.05868	0.0153	L	0.57536	1.79	0.80722	D	1	P;P	0.39551	0.678;0.53	B;B	0.33620	0.167;0.031	T	0.50215	-0.8854	10	0.18710	T	0.47	.	19.2448	0.93898	0.0:0.0:1.0:0.0	.	365;365	F5H658;Q14562	.;DHX8_HUMAN	Q	365	ENSP00000437886:R365Q;ENSP00000262415:R365Q	ENSP00000262415:R365Q	R	+	2	0	DHX8	38926662	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.431000	0.97494	2.793000	0.96121	0.561000	0.74099	CGG		0.512	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1		
UBTF	7343	hgsc.bcm.edu	37	17	42293040	42293040	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:42293040C>T	ENST00000302904.4	-	5	948	c.456G>A	c.(454-456)gaG>gaA	p.E152E	CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Silent_p.E152E|UBTF_ENST00000533177.1_Silent_p.E152E|UBTF_ENST00000527034.1_Silent_p.E152E|UBTF_ENST00000529383.1_Silent_p.E152E|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000436088.1_Silent_p.E152E|UBTF_ENST00000343638.5_Silent_p.E152E|UBTF_ENST00000393606.3_Silent_p.E152E			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	152					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|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)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.E152E(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TCTCCGGAAGCTCCTTGTATT	0.547																																					p.E152E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G456A	17						.						110.0	114.0	113.0					17																	42293040		2203	4300	6503	39648566	SO:0001819	synonymous_variant	7343	exon5			BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.456G>A	17.37:g.42293040C>T			39648566	NM_001076683	A8K6R8	Silent	SNP	ENST00000302904.4	37	CCDS11480.1																																																																																				0.547	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233	
EFTUD2	9343	hgsc.bcm.edu	37	17	42928718	42928718	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:42928718C>A	ENST00000426333.2	-	28	3140	c.2843G>T	c.(2842-2844)aGc>aTc	p.S948I	EFTUD2_ENST00000592576.1_Missense_Mutation_p.S938I|EFTUD2_ENST00000591382.1_Missense_Mutation_p.S948I|EFTUD2_ENST00000402521.3_Missense_Mutation_p.S913I	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	948					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.S948I(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TTTGCTGATGCTCACATCTTC	0.502																																					p.S948I	Ovarian(10;65 485 10258 29980 30707)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2843T	17						.						157.0	137.0	144.0					17																	42928718		2203	4300	6503	40284244	SO:0001583	missense	9343	exon28			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2843G>T	17.37:g.42928718C>A	ENSP00000392094:p.Ser948Ile		40284244	NM_004247	B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	C	33	5.281952	0.95489	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.72051	-0.62;-0.61	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.87653	0.6231	M	0.92412	3.305	0.80722	D	1	D;D	0.62365	0.991;0.991	P;P	0.62089	0.898;0.898	D	0.89623	0.3850	10	0.72032	D	0.01	-26.0724	20.1588	0.98128	0.0:1.0:0.0:0.0	.	938;948	B4DMC0;Q15029	.;U5S1_HUMAN	I	948;938;913	ENSP00000392094:S948I;ENSP00000385873:S913I	ENSP00000262414:S938I	S	-	2	0	EFTUD2	40284244	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.336000	0.79245	2.770000	0.95276	0.563000	0.77884	AGC		0.502	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247	
WNT9B	7484	hgsc.bcm.edu	37	17	44952694	44952694	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:44952694G>A	ENST00000290015.2	+	3	615	c.562G>A	c.(562-564)Gca>Aca	p.A188T	WNT9B_ENST00000393461.2_Missense_Mutation_p.A188T	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	188					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.A188T(1)		large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GGACCTGCGGGCACGGGCAGA	0.622																																					p.A188T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G562A	17						.						49.0	42.0	44.0					17																	44952694		2203	4300	6503	42307693	SO:0001583	missense	7484	exon3			AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"""Wingless-type MMTV integration sites"""	12779	protein-coding gene	gene with protein product		602864	"""wingless-type MMTV integration site family, member 15"""	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.562G>A	17.37:g.44952694G>A	ENSP00000290015:p.Ala188Thr		42307693	NM_003396	Q6UXT4|Q96Q09	Missense_Mutation	SNP	ENST00000290015.2	37	CCDS11506.1	.	.	.	.	.	.	.	.	.	.	G	34	5.374518	0.95923	.	.	ENSG00000158955	ENST00000376843;ENST00000393461;ENST00000290015	T;T	0.76578	-1.03;-1.03	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.85379	0.5683	L	0.52905	1.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.83308	-0.0024	10	0.32370	T	0.25	.	18.2971	0.90150	0.0:0.0:1.0:0.0	.	188;188	E7EPC3;O14905	.;WNT9B_HUMAN	T	182;188;188	ENSP00000377105:A188T;ENSP00000290015:A188T	ENSP00000290015:A188T	A	+	1	0	WNT9B	42307693	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.653000	0.98506	2.550000	0.86006	0.462000	0.41574	GCA		0.622	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440433.1	NM_003396	
PSMB6	5694	hgsc.bcm.edu	37	17	4701076	4701076	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:4701076C>T	ENST00000270586.3	+	4	453	c.402C>T	c.(400-402)atC>atT	p.I134I		NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN	proteasome (prosome, macropain) subunit, beta type, 6	134					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	endopeptidase activity (GO:0004175)|threonine-type endopeptidase activity (GO:0004298)	p.I134I(1)		endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						GAATCATCATCGCAGGCTGGG	0.542																																					p.I134I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C402T	17						.						69.0	68.0	68.0					17																	4701076		2203	4300	6503	4648034	SO:0001819	synonymous_variant	5694	exon4			BC000835	CCDS11056.1, CCDS73944.1	17p13	2004-02-18			ENSG00000142507	ENSG00000142507		"""Proteasome (prosome, macropain) subunits"""	9543	protein-coding gene	gene with protein product		600307				8066462, 1888762	Standard	NM_002798		Approved	Y, DELTA	uc002fzb.4	P28072	OTTHUMG00000090777	ENST00000270586.3:c.402C>T	17.37:g.4701076C>T			4648034	NM_002798	Q96J55	Silent	SNP	ENST00000270586.3	37	CCDS11056.1																																																																																				0.542	PSMB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207559.2	NM_002798	
FAM117A	81558	hgsc.bcm.edu	37	17	47794917	47794917	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:47794917G>A	ENST00000240364.2	-	6	947	c.868C>T	c.(868-870)Cgg>Tgg	p.R290W	RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000514018.1_5'Flank|FAM117A_ENST00000513602.1_Missense_Mutation_p.R18W	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	290								p.R290W(1)		haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						GCGGCACCCCGATGTTCCTCA	0.632																																					p.R290W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C868T	17						.						39.0	37.0	38.0					17																	47794917		2196	4291	6487	45149916	SO:0001583	missense	81558	exon6			BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"""C/EBP induced protein"""					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.868C>T	17.37:g.47794917G>A	ENSP00000240364:p.Arg290Trp		45149916	NM_030802	B7Z7Q3	Missense_Mutation	SNP	ENST00000240364.2	37	CCDS11553.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949406	0.73787	.	.	ENSG00000121104	ENST00000240364;ENST00000511743	.	.	.	5.2	5.2	0.72013	.	0.463646	0.20998	N	0.081911	T	0.44993	0.1320	L	0.38175	1.15	0.09310	N	1	D	0.69078	0.997	P	0.50708	0.648	T	0.40327	-0.9569	9	0.62326	D	0.03	-15.6577	15.7648	0.78117	0.0:0.0:1.0:0.0	.	290	Q9C073	F117A_HUMAN	W	290;180	.	ENSP00000240364:R290W	R	-	1	2	FAM117A	45149916	0.031000	0.19500	0.030000	0.17652	0.734000	0.41952	2.304000	0.43655	2.698000	0.92095	0.655000	0.94253	CGG		0.632	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365736.1	NM_030802	
KIF2B	84643	hgsc.bcm.edu	37	17	51901828	51901828	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:51901828C>T	ENST00000268919.4	+	1	1590	c.1434C>T	c.(1432-1434)ctC>ctT	p.L478L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	478	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)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L478L(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTCTAGCCCTCAAAGAATGTA	0.502																																					p.L478L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1434T	17						.						46.0	43.0	44.0					17																	51901828		2203	4300	6503	49256827	SO:0001819	synonymous_variant	84643	exon1			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1434C>T	17.37:g.51901828C>T			49256827	NM_032559	Q96MA2|Q9BXG6	Silent	SNP	ENST00000268919.4	37	CCDS32685.1																																																																																				0.502	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559	
COX11	1353	hgsc.bcm.edu	37	17	53045980	53045980	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:53045980T>C	ENST00000299335.3	-	1	166	c.28A>G	c.(28-30)Agg>Ggg	p.R10G	COX11_ENST00000571584.1_Missense_Mutation_p.R10G|STXBP4_ENST00000299341.4_5'Flank|STXBP4_ENST00000376352.2_5'Flank|STXBP4_ENST00000405898.1_5'Flank|STXBP4_ENST00000398391.2_5'Flank|STXBP4_ENST00000434978.2_5'Flank	NM_004375.3	NP_004366.1	Q9Y6N1	COX11_HUMAN	cytochrome c oxidase assembly homolog 11 (yeast)	10					hydrogen ion transmembrane transport (GO:1902600)|negative regulation of glucokinase activity (GO:0033132)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)|electron carrier activity (GO:0009055)	p.R10G(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						GGAACGCACCTCCATCCAGGA	0.622																																					p.R10G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A28G	17						.						69.0	72.0	71.0					17																	53045980		2034	4079	6113	50400979	SO:0001583	missense	1353	exon1			AF044321	CCDS11583.1, CCDS58579.1	17q22	2012-10-15	2012-10-15			ENSG00000166260		"""Mitochondrial respiratory chain complex assembly factors"""	2261	protein-coding gene	gene with protein product	"""cytochrome c oxidase subunit 11"", ""cytochrome c oxidase assembly protein COX11"""	603648	"""COX11 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX11 cytochrome c oxidase assembly homolog (yeast)"""			9878253	Standard	NM_004375		Approved	COX11P	uc010wng.1	Q9Y6N1		ENST00000299335.3:c.28A>G	17.37:g.53045980T>C	ENSP00000299335:p.Arg10Gly		50400979	NM_004375	D3DTY5|I3L220|Q6FHB7|Q9BRX0|Q9UME8	Missense_Mutation	SNP	ENST00000299335.3	37	CCDS11583.1	.	.	.	.	.	.	.	.	.	.	t	12.59	1.984016	0.35036	.	.	ENSG00000166260	ENST00000299335	T	0.46451	0.87	4.92	-2.15	0.07102	.	0.770635	0.12311	N	0.480179	T	0.32376	0.0827	L	0.51422	1.61	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.35201	-0.9798	10	0.87932	D	0	-0.1654	7.1185	0.25431	0.0:0.1626:0.4978:0.3397	.	10;10	B4DI26;Q9Y6N1	.;COX11_HUMAN	G	10	ENSP00000299335:R10G	ENSP00000299335:R10G	R	-	1	2	COX11	50400979	0.014000	0.17966	0.051000	0.19133	0.012000	0.07955	0.312000	0.19397	-0.233000	0.09797	-0.295000	0.09555	AGG		0.622	COX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439182.1	NM_004375	
WSCD1	23302	hgsc.bcm.edu	37	17	6021344	6021344	+	Missense_Mutation	SNP	G	G	A	rs542782974		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:6021344G>A	ENST00000574946.1	+	8	1601	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	WSCD1_ENST00000573634.1_Missense_Mutation_p.R288H|WSCD1_ENST00000574232.1_Missense_Mutation_p.R404H|WSCD1_ENST00000539421.1_Missense_Mutation_p.R404H|WSCD1_ENST00000317744.5_Missense_Mutation_p.R404H			Q658N2	WSCD1_HUMAN	WSC domain containing 1	404						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)	p.R404H(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						CGGAGCCGACGCACCATCTGT	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		20785	0.0		0.001	False		,,,				2504	0.0				p.R404H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1211A	17						.						92.0	88.0	89.0					17																	6021344		2203	4300	6503	5962068	SO:0001583	missense	23302	exon8				CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1211G>A	17.37:g.6021344G>A	ENSP00000460825:p.Arg404His		5962068	NM_015253	A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	ENST00000574946.1	37	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114665	0.94339	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	T;T	0.34667	1.35;1.35	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.58538	0.2129	L	0.61387	1.9	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	T	0.58255	-0.7668	10	0.54805	T	0.06	-38.4917	16.8089	0.85713	0.0:0.0:1.0:0.0	.	404	Q658N2	WSCD1_HUMAN	H	404	ENSP00000323087:R404H;ENSP00000446032:R404H	ENSP00000323087:R404H	R	+	2	0	WSCD1	5962068	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.464000	0.97655	2.583000	0.87209	0.655000	0.94253	CGC		0.557	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253	
CLTC	1213	hgsc.bcm.edu	37	17	57738925	57738925	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:57738925A>T	ENST00000269122.3	+	8	1563	c.1289A>T	c.(1288-1290)tAc>tTc	p.Y430F	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.Y430F	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	430	Globular terminal domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.Y430F(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTCAACAAATACGAATCCTTA	0.443			T	"""ALK, TFE3"""	"""ALCL, renal """																																p.Y430F			Dom	yes		17	17q11-qter	1213	"""clathrin, heavy polypeptide (Hc)"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1289T	17						.						131.0	110.0	117.0					17																	57738925		2203	4300	6503	55093707	SO:0001583	missense	1213	exon8			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.1289A>T	17.37:g.57738925A>T	ENSP00000269122:p.Tyr430Phe		55093707	NM_004859	D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	A	12.91	2.079926	0.36662	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.41400	1.0;1.0	5.78	4.69	0.59074	Armadillo-type fold (1);	0.111415	0.64402	D	0.000009	T	0.17874	0.0429	N	0.04636	-0.2	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.0;0.004	T	0.06770	-1.0808	10	0.09338	T	0.73	-2.7925	8.3435	0.32258	0.7304:0.138:0.0:0.1316	.	430;430	Q00610;Q00610-2	CLH1_HUMAN;.	F	430	ENSP00000269122:Y430F;ENSP00000376763:Y430F	ENSP00000269122:Y430F	Y	+	2	0	CLTC	55093707	1.000000	0.71417	0.902000	0.35471	0.940000	0.58332	4.607000	0.61133	1.000000	0.39049	0.528000	0.53228	TAC		0.443	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859	
BPTF	2186	hgsc.bcm.edu	37	17	65924641	65924641	+	Silent	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:65924641T>C	ENST00000321892.4	+	18	6361	c.6300T>C	c.(6298-6300)gcT>gcC	p.A2100A	BPTF_ENST00000335221.5_Silent_p.A2100A|BPTF_ENST00000424123.3_Silent_p.A1961A|BPTF_ENST00000306378.6_Silent_p.A1974A			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2100					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A1974A(1)|p.A2100A(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GATCTCCAGCTACAGTAACAT	0.413																																					p.A1974A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T5922C	17						.						96.0	85.0	88.0					17																	65924641		2203	4300	6503	63355103	SO:0001819	synonymous_variant	2186	exon16			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.6300T>C	17.37:g.65924641T>C			63355103	NM_182641	Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37																																																																																					0.413	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459	
ARSG	22901	hgsc.bcm.edu	37	17	66364860	66364860	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:66364860G>T	ENST00000448504.2	+	7	1672	c.876G>T	c.(874-876)aaG>aaT	p.K292N	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Missense_Mutation_p.K128N	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	292					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)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.K292N(1)		NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACACAGTGAAGGAAAACACAT	0.502																																					p.K292N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G876T	17						.						109.0	96.0	100.0					17																	66364860		2203	4300	6503	63876455	SO:0001583	missense	22901	exon7			AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"""Arylsulfatase family"""	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.876G>T	17.37:g.66364860G>T	ENSP00000407193:p.Lys292Asn		63876455	NM_014960	Q6UXF2|Q9Y2K4	Missense_Mutation	SNP	ENST00000448504.2	37	CCDS11676.1	.	.	.	.	.	.	.	.	.	.	G	0.668	-0.802982	0.02841	.	.	ENSG00000141337	ENST00000452479;ENST00000448504	.	.	.	5.26	-1.53	0.08611	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	1.774960	0.02394	N	0.079990	T	0.61362	0.2341	M	0.69248	2.105	0.09310	N	1	B	0.28350	0.208	B	0.42112	0.376	T	0.53816	-0.8385	9	0.18276	T	0.48	.	13.2	0.59763	0.3448:0.0:0.6552:0.0	.	292	Q96EG1	ARSG_HUMAN	N	292;191	.	ENSP00000407193:K191N	K	+	3	2	ARSG	63876455	0.252000	0.23972	0.001000	0.08648	0.013000	0.08279	0.336000	0.19823	-0.171000	0.10797	-0.345000	0.07892	AAG		0.502	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960	
TTYH2	94015	hgsc.bcm.edu	37	17	72240169	72240169	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:72240169C>T	ENST00000269346.4	+	6	859	c.785C>T	c.(784-786)gCt>gTt	p.A262V	TTYH2_ENST00000529107.1_Missense_Mutation_p.A241V|TTYH2_ENST00000534346.1_3'UTR	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	262			A -> T (in dbSNP:rs35682745). {ECO:0000269|PubMed:15489334}.			chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.A262V(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TCCCTGGCCGCTGATGGCTCT	0.647																																					p.A262V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C785T	17						.						68.0	63.0	65.0					17																	72240169		2203	4300	6503	69751764	SO:0001583	missense	94015	exon6				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.785C>T	17.37:g.72240169C>T	ENSP00000269346:p.Ala262Val		69751764	NM_032646	B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	ENST00000269346.4	37	CCDS32717.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919789	0.33908	.	.	ENSG00000141540	ENST00000269346;ENST00000529107	T;T	0.10477	2.87;2.87	5.21	2.12	0.27331	.	0.292448	0.37261	N	0.002167	T	0.10121	0.0248	L	0.54323	1.7	0.26076	N	0.981157	B;B	0.09022	0.002;0.0	B;B	0.12156	0.006;0.007	T	0.20672	-1.0268	10	0.33940	T	0.23	-4.1565	7.4671	0.27328	0.0:0.5994:0.0:0.4006	.	241;262	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	V	262;241	ENSP00000269346:A262V;ENSP00000433089:A241V	ENSP00000269346:A262V	A	+	2	0	TTYH2	69751764	0.656000	0.27385	0.017000	0.16124	0.196000	0.23810	1.299000	0.33424	0.602000	0.29896	0.446000	0.29264	GCT		0.647	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1		
TMEM104	54868	hgsc.bcm.edu	37	17	72832750	72832750	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:72832750G>T	ENST00000335464.5	+	10	1577	c.1415G>T	c.(1414-1416)gGc>gTc	p.G472V	TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.G472V	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	472						integral component of membrane (GO:0016021)		p.G472V(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					TTCTGGGTGGGCTTCGTGCTG	0.592																																					p.G472V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1415T	17						.						63.0	51.0	55.0					17																	72832750		2203	4300	6503	70344345	SO:0001583	missense	54868	exon10			AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.1415G>T	17.37:g.72832750G>T	ENSP00000334849:p.Gly472Val		70344345	NM_017728	Q8TEU1|Q9NT56|Q9NXH1	Missense_Mutation	SNP	ENST00000335464.5	37	CCDS32723.1	.	.	.	.	.	.	.	.	.	.	G	9.549	1.115414	0.20795	.	.	ENSG00000109066	ENST00000335464	T	0.26518	1.73	5.17	3.09	0.35607	.	0.215268	0.50627	D	0.000103	T	0.10508	0.0257	N	0.03608	-0.345	0.50039	D	0.999849	B	0.02656	0.0	B	0.06405	0.002	T	0.13098	-1.0522	10	0.16896	T	0.51	-22.5045	10.8827	0.46948	0.0:0.2536:0.6066:0.1398	.	472	Q8NE00	TM104_HUMAN	V	472	ENSP00000334849:G472V	ENSP00000334849:G472V	G	+	2	0	TMEM104	70344345	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.379000	0.52440	0.640000	0.30582	0.462000	0.41574	GGC		0.592	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	NM_017728	
DVL2	1856	hgsc.bcm.edu	37	17	7129814	7129814	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:7129814G>A	ENST00000005340.5	-	14	1970	c.1688C>T	c.(1687-1689)cCg>cTg	p.P563L	DVL2_ENST00000574642.1_5'Flank|DVL2_ENST00000575458.1_Missense_Mutation_p.P557L	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	563					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)	p.P563L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TGGAGGCTGCGGGCTGTAGGG	0.612																																					p.P563L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1688T	17						.						50.0	54.0	52.0					17																	7129814		2203	4300	6503	7070538	SO:0001583	missense	1856	exon14			BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.1688C>T	17.37:g.7129814G>A	ENSP00000005340:p.Pro563Leu		7070538	NM_004422	D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623461	0.46840	.	.	ENSG00000004975	ENST00000005340	T	0.04454	3.62	4.91	4.91	0.64330	Winged helix-turn-helix transcription repressor DNA-binding (1);Dishevelled C-terminal (1);	0.115902	0.56097	D	0.000026	T	0.07413	0.0187	M	0.63843	1.955	0.53005	D	0.999967	P;P	0.43750	0.816;0.816	B;B	0.35727	0.209;0.209	T	0.09207	-1.0685	10	0.66056	D	0.02	-19.2944	15.6301	0.76899	0.0:0.0:1.0:0.0	.	557;563	B4DLQ0;O14641	.;DVL2_HUMAN	L	563	ENSP00000005340:P563L	ENSP00000005340:P563L	P	-	2	0	DVL2	7070538	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	5.510000	0.67018	2.553000	0.86117	0.655000	0.94253	CCG		0.612	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422	
GRIN2C	2905	hgsc.bcm.edu	37	17	72846501	72846501	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:72846501G>A	ENST00000293190.5	-	6	1481	c.1335C>T	c.(1333-1335)gaC>gaT	p.D445D	GRIN2C_ENST00000347612.4_Silent_p.D445D|GRIN2C_ENST00000578159.1_5'Flank	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	445					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)	p.D445D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGGGGGCCACGTCCCCGCTGC	0.622																																					p.D445D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1335T	17						.						82.0	82.0	82.0					17																	72846501		2203	4300	6503	70358096	SO:0001819	synonymous_variant	2905	exon6				CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1335C>T	17.37:g.72846501G>A			70358096	NM_000835	B2RTT1	Silent	SNP	ENST00000293190.5	37	CCDS32724.1																																																																																				0.622	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1		
DNAH2	146754	hgsc.bcm.edu	37	17	7637853	7637853	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:7637853G>T	ENST00000572933.1	+	7	2265	c.805G>T	c.(805-807)Gga>Tga	p.G269*	DNAH2_ENST00000082259.3_Nonsense_Mutation_p.G269*|DNAH2_ENST00000389173.2_Nonsense_Mutation_p.G269*|DNAH2_ENST00000570791.1_Nonsense_Mutation_p.G269*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	269	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G269*(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGTGGAGACAGGAGAAAATTT	0.522																																					p.G269X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G805T	17						.						90.0	84.0	86.0					17																	7637853		2203	4300	6503	7578578	SO:0001587	stop_gained	146754	exon6			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.805G>T	17.37:g.7637853G>T	ENSP00000458355:p.Gly269*		7578578	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Nonsense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	36	5.599445	0.96614	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	.	.	.	5.63	5.63	0.86233	.	0.686862	0.14496	N	0.316069	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	12.5635	0.56295	0.0802:0.0:0.9198:0.0	.	.	.	.	X	269	.	ENSP00000082259:G269X	G	+	1	0	DNAH2	7578578	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	4.175000	0.58263	2.671000	0.90904	0.455000	0.32223	GGA		0.522	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
QRICH2	84074	hgsc.bcm.edu	37	17	74287683	74287683	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:74287683A>G	ENST00000262765.5	-	4	2806	c.2627T>C	c.(2626-2628)gTa>gCa	p.V876A		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	876								p.V876A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TTCTGGTGGTACCAAACTCCT	0.502																																					p.V876A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2627C	17						.						158.0	145.0	149.0					17																	74287683		2203	4300	6503	71799278	SO:0001583	missense	84074	exon4			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.2627T>C	17.37:g.74287683A>G	ENSP00000262765:p.Val876Ala		71799278	NM_032134	A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	A	9.935	1.215955	0.22373	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.08546	3.08	4.29	0.64	0.17752	.	.	.	.	.	T	0.05318	0.0141	L	0.34521	1.04	0.09310	N	1	P;P	0.44139	0.827;0.827	B;B	0.40901	0.343;0.343	T	0.30001	-0.9993	9	0.15066	T	0.55	-5.1399	2.9932	0.05989	0.5064:0.2326:0.261:0.0	.	876;876	B5MD94;Q9H0J4	.;QRIC2_HUMAN	A	876	ENSP00000262765:V876A	ENSP00000262765:V876A	V	-	2	0	QRICH2	71799278	0.000000	0.05858	0.010000	0.14722	0.255000	0.26057	-0.646000	0.05403	0.628000	0.30357	0.368000	0.22195	GTA		0.502	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134	
SECTM1	6398	hgsc.bcm.edu	37	17	80280807	80280807	+	Missense_Mutation	SNP	C	C	T	rs372685037		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:80280807C>T	ENST00000269389.3	-	4	834	c.484G>A	c.(484-486)Gct>Act	p.A162T	SECTM1_ENST00000580437.1_Intron	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1	162					immune response (GO:0006955)|mesoderm development (GO:0007498)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine activity (GO:0005125)|signal transducer activity (GO:0004871)	p.A162T(1)		endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			ATGACCAGAGCGACCAAGAGG	0.642																																					p.A162T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G484A	17						.		THR/ALA	0,4406		0,0,2203	75.0	64.0	68.0		484	-2.5	0.0	17		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	SECTM1	NM_003004.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	162/249	80280807	1,13005	2203	4300	6503	77874096	SO:0001583	missense	6398	exon4			U77643	CCDS11808.1	17q25	2008-07-18				ENSG00000141574			10707	protein-coding gene	gene with protein product	"""K12 protein"", ""type 1a transmembrane protein"""	602602				9480746	Standard	NM_003004		Approved	K12	uc002keo.3	Q8WVN6		ENST00000269389.3:c.484G>A	17.37:g.80280807C>T	ENSP00000269389:p.Ala162Thr		77874096	NM_003004	B2R7H0|O00466	Missense_Mutation	SNP	ENST00000269389.3	37	CCDS11808.1	.	.	.	.	.	.	.	.	.	.	c	3.387	-0.125126	0.06795	0.0	1.16E-4	ENSG00000141574	ENST00000269389	.	.	.	1.56	-2.5	0.06384	.	.	.	.	.	T	0.12008	0.0292	N	0.14661	0.345	0.09310	N	1	P;P	0.36647	0.563;0.563	B;B	0.17098	0.017;0.017	T	0.05699	-1.0869	8	0.49607	T	0.09	.	5.9197	0.19076	0.0:0.4512:0.3844:0.1644	.	162;162	Q8WVN6;A8K3U3	SCTM1_HUMAN;.	T	162	.	ENSP00000269389:A162T	A	-	1	0	SECTM1	77874096	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.072000	0.00618	-1.746000	0.01335	-1.619000	0.00793	GCT		0.642	SECTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442856.1	NM_003004	
AURKB	9212	hgsc.bcm.edu	37	17	8110541	8110541	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:8110541G>A	ENST00000585124.1	-	5	444	c.351C>T	c.(349-351)ggC>ggT	p.G117G	AURKB_ENST00000535053.1_Silent_p.G118G|AURKB_ENST00000316199.6_Silent_p.G118G|AURKB_ENST00000534871.1_Silent_p.G76G|AURKB_ENST00000578549.1_Intron	NM_004217.3	NP_004208.2	Q96GD4	AURKB_HUMAN	aurora kinase B	117	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				abscission (GO:0009838)|aging (GO:0007568)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|cleavage furrow formation (GO:0036089)|cytokinesis checkpoint (GO:0031565)|histone H3-S28 phosphorylation (GO:0043988)|histone modification (GO:0016570)|mitotic cell cycle (GO:0000278)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytokinesis (GO:0032467)|protein autophosphorylation (GO:0046777)|protein localization to kinetochore (GO:0034501)|protein phosphorylation (GO:0006468)|regulation of chromosome segregation (GO:0051983)|spindle checkpoint (GO:0031577)|spindle midzone assembly involved in mitosis (GO:0051256)|spindle stabilization (GO:0043146)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|central_nervous_system(1)|lung(2)	4						GATGCTCCACGCCCTCCTTCT	0.572																																					p.G117G	NSCLC(134;1161 2470 43664 51568)											.	.	0			c.C351T	17						.						66.0	62.0	64.0					17																	8110541		2203	4300	6503	8051266	SO:0001819	synonymous_variant	9212	exon5			AF004022	CCDS11134.1, CCDS58514.1, CCDS67162.1	17p13.1	2013-01-17	2003-07-21	2003-07-23	ENSG00000178999	ENSG00000178999		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11390	protein-coding gene	gene with protein product	"""aurora-B"", ""aurora-1"", ""protein phosphatase 1, regulatory subunit 48"""	604970	"""serine/threonine kinase 12"""	STK12		9858806	Standard	NM_001256834		Approved	Aik2, IPL1, AurB, AIM-1, ARK2, STK5, PPP1R48	uc002gkm.4	Q96GD4	OTTHUMG00000108189	ENST00000585124.1:c.351C>T	17.37:g.8110541G>A			8051266	NM_004217	B4DNM4|C7G533|C7G534|C7G535|D3DTR4|J9JID1|O14630|O60446|O95083|Q96DV5|Q9UQ46	Silent	SNP	ENST00000585124.1	37	CCDS11134.1																																																																																				0.572	AURKB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000226995.2	NM_004217	
GLP2R	9340	hgsc.bcm.edu	37	17	9739714	9739714	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:9739714C>T	ENST00000262441.5	+	3	817	c.304C>T	c.(304-306)Cag>Tag	p.Q102*	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	102					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)	p.Q102*(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	GACATTTGATCAGTACGTGTG	0.448																																					p.Q102X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C304T	17						.						351.0	315.0	327.0					17																	9739714		2203	4300	6503	9680439	SO:0001587	stop_gained	9340	exon3			AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.304C>T	17.37:g.9739714C>T	ENSP00000262441:p.Gln102*		9680439	NM_004246	Q4VAT3	Nonsense_Mutation	SNP	ENST00000262441.5	37	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	C	34	5.299471	0.95574	.	.	ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441	.	.	.	5.58	-0.533	0.11887	.	1.684780	0.03879	N	0.276817	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.8762	0.86052	0.6051:0.3949:0.0:0.0	.	.	.	.	X	102;77;102	.	ENSP00000262441:Q102X	Q	+	1	0	GLP2R	9680439	0.015000	0.18098	0.018000	0.16275	0.056000	0.15407	0.254000	0.18314	-0.272000	0.09259	-0.311000	0.09066	CAG		0.448	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4		
ARHGAP27	201176	hgsc.bcm.edu	37	17	43480123	43480124	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	GA	GA	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:43480123_43480124delGA	ENST00000428638.1	-	9	1698_1699	c.1699_1700delTC	c.(1699-1701)tccfs	p.S567fs	ARHGAP27_ENST00000376922.2_Frame_Shift_Del_p.S226fs|ARHGAP27_ENST00000528384.1_Frame_Shift_Del_p.S199fs|ARHGAP27_ENST00000532891.2_Frame_Shift_Del_p.S545fs|ARHGAP27_ENST00000582826.1_5'UTR|ARHGAP27_ENST00000455881.1_Frame_Shift_Del_p.S226fs|ARHGAP27_ENST00000442348.1_Frame_Shift_Del_p.S540fs|ARHGAP27_ENST00000532038.1_Frame_Shift_Del_p.S345fs			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	567	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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.S226fs*9(1)		endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					GGGGGCCCAGGAGAGAGTGGCC	0.599																																					p.226_226del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.676_677del	17						.																																			40835907	SO:0001589	frameshift_variant	201176	exon9			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.1699_1700delTC	17.37:g.43480127_43480128delGA	ENSP00000403323:p.Ser567fs		40835906	NM_199282	A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Frame_Shift_Del	DEL	ENST00000428638.1	37																																																																																					0.599	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		NM_199282	
USP32	84669	hgsc.bcm.edu	37	17	58365901	58365902	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	AG	AG	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:58365901_58365902delAG	ENST00000300896.4	-	5	747_748	c.553_554delCT	c.(553-555)ctgfs	p.L185fs	USP32_ENST00000393003.3_Frame_Shift_Del_p.L185fs	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	185					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.L185fs*13(1)		NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GACTCCAGCCAGAGTTTGGTAG	0.347																																					p.185_185del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.553_554del	17						.																																			55720684	SO:0001589	frameshift_variant	84669	exon5			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.553_554delCT	17.37:g.58365903_58365904delAG	ENSP00000300896:p.Leu185fs		55720683	NM_032582	Q7Z5T3|Q9BX85|Q9Y591	Frame_Shift_Del	DEL	ENST00000300896.4	37	CCDS32697.1																																																																																				0.347	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582	
C17orf62	79415	hgsc.bcm.edu	37	17	80404507	80404507	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr17:80404507C>G	ENST00000437807.2	-	5	510	c.193G>C	c.(193-195)Gac>Cac	p.D65H	C17orf62_ENST00000342572.8_Intron|C17orf62_ENST00000306645.5_Missense_Mutation_p.D65H|C17orf62_ENST00000578919.1_Missense_Mutation_p.D65H|C17orf62_ENST00000585064.1_Missense_Mutation_p.D65H|C17orf62_ENST00000434650.2_Missense_Mutation_p.D51H|C17orf62_ENST00000577436.1_Missense_Mutation_p.D51H|C17orf62_ENST00000583617.1_Missense_Mutation_p.D65H|C17orf62_ENST00000336995.7_Intron|C17orf62_ENST00000583359.1_5'UTR|C17orf62_ENST00000578913.1_Missense_Mutation_p.D65H|C17orf62_ENST00000585080.1_Missense_Mutation_p.D65H|C17orf62_ENST00000577732.1_Missense_Mutation_p.D65H	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	65						integral component of membrane (GO:0016021)		p.D65H(1)		breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			ACCTCCCAGTCCTCCAAGTTC	0.602																																					p.D65H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G193C	17						.						103.0	104.0	104.0					17																	80404507		2203	4300	6503	77997796	SO:0001583	missense	79415	exon5			AK074950	CCDS32776.1, CCDS45817.1	17q25.3	2014-06-09			ENSG00000178927	ENSG00000178927			28672	protein-coding gene	gene with protein product							Standard	NM_001100407		Approved	MGC4368, FLJ90469	uc021ufr.1	Q9BQA9		ENST00000437807.2:c.193G>C	17.37:g.80404507C>G	ENSP00000388909:p.Asp65His		77997796	NM_001100407	E1B6X3|Q96NR1	Missense_Mutation	SNP	ENST00000437807.2	37	CCDS32776.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.243359	0.58995	.	.	ENSG00000178927	ENST00000437807;ENST00000306645;ENST00000434650	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	T	0.68650	0.3024	L	0.60455	1.87	0.80722	D	1	D;D	0.63046	0.992;0.98	P;P	0.60473	0.875;0.874	T	0.71672	-0.4522	8	0.66056	D	0.02	.	13.4355	0.61082	0.0:0.8414:0.1586:0.0	.	51;65	E1B6X3;Q9BQA9	.;CQ062_HUMAN	H	65;65;51	.	ENSP00000307765:D65H	D	-	1	0	C17orf62	77997796	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	4.127000	0.57944	2.296000	0.77279	0.561000	0.74099	GAC		0.602	C17orf62-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443260.1	NM_001033046	
TMPRSS15	5651	hgsc.bcm.edu	37	21	19642365	19642365	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr21:19642365T>C	ENST00000284885.3	-	25	3014	c.2981A>G	c.(2980-2982)aAg>aGg	p.K994R		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	994	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.K994R(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CAGGGCACACTTGTATCCAAA	0.443																																					p.K994R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2981G	21						.						156.0	140.0	146.0					21																	19642365		2203	4300	6503	18564236	SO:0001583	missense	5651	exon25				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2981A>G	21.37:g.19642365T>C	ENSP00000284885:p.Lys994Arg		18564236	NM_002772	Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.453193	0.43531	.	.	ENSG00000154646	ENST00000284885	D	0.89050	-2.46	5.99	5.99	0.97316	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.406531	0.26013	N	0.026873	T	0.74566	0.3733	N	0.05078	-0.115	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.59451	-0.7452	9	.	.	.	.	8.7737	0.34749	0.0:0.1429:0.0:0.8571	.	994	P98073	ENTK_HUMAN	R	994	ENSP00000284885:K994R	.	K	-	2	0	TMPRSS15	18564236	0.017000	0.18338	0.994000	0.49952	0.934000	0.57294	2.317000	0.43770	2.291000	0.77112	0.533000	0.62120	AAG		0.443	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	
ADAMTS1	9510	hgsc.bcm.edu	37	21	28216573	28216573	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr21:28216573G>A	ENST00000284984.3	-	1	1155	c.701C>T	c.(700-702)cCg>cTg	p.P234L		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	234					heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P234L(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TTGCAGTGCCGGGTCCTGCGG	0.607											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P234L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C701T	21						.						32.0	28.0	30.0					21																	28216573		2195	4294	6489	27138444	SO:0001583	missense	9510	exon1			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.701C>T	21.37:g.28216573G>A	ENSP00000284984:p.Pro234Leu	800	27138444	NM_006988	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.769555	0.31320	.	.	ENSG00000154734	ENST00000284984	T	0.61742	0.08	3.84	-5.16	0.02857	.	.	.	.	.	T	0.31327	0.0793	N	0.08118	0	0.09310	N	1	B	0.23540	0.087	B	0.13407	0.009	T	0.19160	-1.0314	9	0.21540	T	0.41	.	12.7723	0.57427	0.0:0.1315:0.7648:0.1038	.	234	Q9UHI8	ATS1_HUMAN	L	234	ENSP00000284984:P234L	ENSP00000284984:P234L	P	-	2	0	ADAMTS1	27138444	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-1.920000	0.01571	-0.843000	0.04189	-0.502000	0.04539	CCG		0.607	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2		
MIS18A	54069	hgsc.bcm.edu	37	21	33642792	33642792	+	Silent	SNP	G	G	A	rs61737940	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr21:33642792G>A	ENST00000290130.3	-	3	504	c.450C>T	c.(448-450)taC>taT	p.Y150Y	MIS18A_ENST00000486363.1_5'UTR	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	150					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of DNA methylation (GO:0044030)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.Y150Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						ATCTGTACACGTAGCCAAGAT	0.418													G|||	39	0.00778754	0.0272	0.0043	5008	,	,		17315	0.0		0.0	False		,,,				2504	0.0				p.Y150Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C450T	21						.	G		104,4302	82.9+/-121.4	0,104,2099	88.0	77.0	81.0		450	0.6	0.0	21	dbSNP_129	81	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous	MIS18A	NM_018944.2		0,108,6395	AA,AG,GG		0.0465,2.3604,0.8304		150/234	33642792	108,12898	2203	4300	6503	32564663	SO:0001819	synonymous_variant	54069	exon3			AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055			1286	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 46"", ""chromosome 21 open reading frame 45"", ""MIS18 kinetochore protein homolog A (S. pombe)"""	C21orf46, C21orf45		17199038	Standard	NM_018944		Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.450C>T	21.37:g.33642792G>A			32564663	NM_018944	B2R562|Q542Z0	Silent	SNP	ENST00000290130.3	37	CCDS13611.1																																																																																				0.418	MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193090.1	NM_018944	
RSPH1	89765	hgsc.bcm.edu	37	21	43897445	43897445	+	Missense_Mutation	SNP	G	G	A	rs149604283	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr21:43897445G>A	ENST00000291536.3	-	7	850	c.683C>T	c.(682-684)cCg>cTg	p.P228L	RSPH1_ENST00000398352.3_Missense_Mutation_p.P190L	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	228					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.P228L(1)		large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						CGTAGAGGTCGGCTTTTTGGG	0.582													G|||	5	0.000998403	0.0038	0.0	5008	,	,		12478	0.0		0.0	False		,,,				2504	0.0				p.P228L	Esophageal Squamous(23;63 706 6286 10288 12913)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C683T	21						.	G	LEU/PRO	14,4392	22.3+/-47.3	0,14,2189	241.0	215.0	224.0		683	-8.6	0.0	21	dbSNP_134	224	0,8600		0,0,4300	yes	missense	RSPH1	NM_080860.2	98	0,14,6489	AA,AG,GG		0.0,0.3177,0.1076	benign	228/310	43897445	14,12992	2203	4300	6503	42770514	SO:0001583	missense	89765	exon7			AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"""meichroacidin"""	609314	"""testis specific A2 homolog (mouse)"""	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.683C>T	21.37:g.43897445G>A	ENSP00000291536:p.Pro228Leu		42770514	NM_080860	A8MWV0|B2RBN9|Q3MJA1	Missense_Mutation	SNP	ENST00000291536.3	37	CCDS13688.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	G	10.42	1.345521	0.24426	0.003177	0.0	ENSG00000160188	ENST00000291536;ENST00000398352	T;T	0.58652	0.36;0.32	4.3	-8.6	0.00889	.	1.396170	0.05026	N	0.473753	T	0.30103	0.0754	L	0.39898	1.24	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12091	-1.0561	10	0.30078	T	0.28	.	3.0802	0.06260	0.3564:0.0828:0.4078:0.153	.	228	Q8WYR4	RSPH1_HUMAN	L	228;190	ENSP00000291536:P228L;ENSP00000381395:P190L	ENSP00000291536:P228L	P	-	2	0	RSPH1	42770514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.798000	0.04565	-1.674000	0.01461	-0.768000	0.03414	CCG		0.582	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195379.1		
RSPH1	89765	hgsc.bcm.edu	37	21	43913127	43913127	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr21:43913127G>A	ENST00000291536.3	-	2	284	c.117C>T	c.(115-117)ccC>ccT	p.P39P	RSPH1_ENST00000398352.3_Intron	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	39					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.P39P(1)		large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						TGTCCCCGTTGGGTAGCCGTG	0.502																																					p.P39P	Esophageal Squamous(23;63 706 6286 10288 12913)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C117T	21						.						253.0	227.0	236.0					21																	43913127		2203	4300	6503	42786196	SO:0001819	synonymous_variant	89765	exon2			AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"""meichroacidin"""	609314	"""testis specific A2 homolog (mouse)"""	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.117C>T	21.37:g.43913127G>A			42786196	NM_080860	A8MWV0|B2RBN9|Q3MJA1	Silent	SNP	ENST00000291536.3	37	CCDS13688.1																																																																																				0.502	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195379.1		
PDE9A	5152	hgsc.bcm.edu	37	21	44182290	44182290	+	Missense_Mutation	SNP	G	G	A	rs201884723		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr21:44182290G>A	ENST00000291539.6	+	14	1243	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	PDE9A_ENST00000539837.1_Missense_Mutation_p.E267K|PDE9A_ENST00000335440.6_Missense_Mutation_p.E293K|PDE9A_ENST00000398225.3_Missense_Mutation_p.E354K|PDE9A_ENST00000335512.4_Missense_Mutation_p.E335K|PDE9A_ENST00000398232.3_Missense_Mutation_p.E328K|PDE9A_ENST00000349112.3_Missense_Mutation_p.E267K|PDE9A_ENST00000398236.3_Missense_Mutation_p.E309K|PDE9A_ENST00000328862.6_Missense_Mutation_p.E369K|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398234.3_Missense_Mutation_p.E294K|PDE9A_ENST00000398224.3_Missense_Mutation_p.E268K|PDE9A_ENST00000398229.3_Missense_Mutation_p.E261K|PDE9A_ENST00000380328.2_Missense_Mutation_p.E342K|PDE9A_ENST00000398227.3_Missense_Mutation_p.E235K	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	395	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)	p.E395K(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	GATCCTCGCCGAGCCTGAGTG	0.612																																					p.E309K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G925A	21						.	G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	141.0	110.0	121.0		1003,802,799,1024,880,562,562,925,703,532,781,877,562,532,982,1060,1105,562,562,1183	3.3	0.2	21		121	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	PDE9A	NM_001001567.1,NM_001001568.1,NM_001001569.1,NM_001001570.1,NM_001001571.1,NM_001001572.1,NM_001001573.1,NM_001001574.1,NM_001001575.1,NM_001001576.1,NM_001001577.1,NM_001001578.1,NM_001001579.1,NM_001001580.1,NM_001001581.1,NM_001001582.1,NM_001001583.1,NM_001001584.2,NM_001001585.1,NM_002606.2	56,56,56,56,56,56,56,56,56,56,56,56,56,56,56,56,56,56,56,56	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	335/534,268/467,267/466,342/541,294/493,188/387,188/387,309/508,235/434,178/377,261/460,293/492,188/387,178/377,328/527,354/553,369/568,188/387,188/387,395/594	44182290	2,13004	2203	4300	6503	43055359	SO:0001583	missense	5152	exon12			AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.1183G>A	21.37:g.44182290G>A	ENSP00000291539:p.Glu395Lys		43055359	NM_001001574	B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Missense_Mutation	SNP	ENST00000291539.6	37	CCDS13690.1	.	.	.	.	.	.	.	.	.	.	G	9.070	0.996713	0.19043	0.0	2.33E-4	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	5.15	3.27	0.37495	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.420899	0.26136	N	0.026129	T	0.54013	0.1832	N	0.01624	-0.795	0.22888	N	0.998601	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.17465	0.0;0.016;0.001;0.001;0.009;0.01;0.002;0.001;0.0;0.001;0.001;0.001;0.002;0.002;0.001;0.022	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.10450	0.001;0.003;0.001;0.001;0.003;0.002;0.001;0.001;0.001;0.001;0.0;0.002;0.003;0.002;0.001;0.005	T	0.41698	-0.9494	10	0.21014	T	0.42	.	11.5488	0.50708	0.1422:0.7247:0.133:0.0	.	267;328;309;294;369;354;287;335;178;235;261;267;293;342;268;395	F5GWD0;O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-10;O76083-9;O76083-11;O76083-4;O76083-12;O76083-5;O76083-3;O76083	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;PDE9A_HUMAN	K	335;267;395;342;328;294;309;369;293;354;261;235;267;268	ENSP00000335242:E335K;ENSP00000441899:E267K;ENSP00000291539:E395K;ENSP00000369685:E342K;ENSP00000381287:E328K;ENSP00000381289:E294K;ENSP00000381291:E309K;ENSP00000328699:E369K;ENSP00000335365:E293K;ENSP00000381281:E354K;ENSP00000381285:E261K;ENSP00000381283:E235K;ENSP00000344730:E267K;ENSP00000381280:E268K	ENSP00000291539:E395K	E	+	1	0	PDE9A	43055359	0.961000	0.32948	0.232000	0.24009	0.469000	0.32828	3.586000	0.53950	0.517000	0.28361	-0.265000	0.10407	GAG		0.612	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1		
CBS	875	hgsc.bcm.edu	37	21	44479019	44479019	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr21:44479019G>A	ENST00000398165.3	-	14	1542	c.1283C>T	c.(1282-1284)aCc>aTc	p.T428I	CBS_ENST00000398158.1_Missense_Mutation_p.T428I|CBS_ENST00000359624.3_Missense_Mutation_p.T428I|CBS_ENST00000398168.1_Missense_Mutation_p.T428I|CBS_ENST00000352178.5_Missense_Mutation_p.T428I|CBS_ENST00000544202.1_Missense_Mutation_p.T340I	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	428	CBS. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)	p.T428I(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	ACAGGTGATGGTCGGGAGCAC	0.662																																					p.T428I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1283T	21						.						38.0	33.0	35.0					21																	44479019		2178	4290	6468	43352088	SO:0001583	missense	875	exon14			L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.1283C>T	21.37:g.44479019G>A	ENSP00000381231:p.Thr428Ile		43352088	NM_001178008	B2R993|D3DSK4|Q99425|Q9BWC5	Missense_Mutation	SNP	ENST00000398165.3	37	CCDS13693.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.66|10.66	1.414012|1.414012	0.25465|0.25465	.|.	.|.	ENSG00000160200|ENSG00000160200	ENST00000458223;ENST00000430013|ENST00000398158;ENST00000398165;ENST00000359624;ENST00000352178;ENST00000398168;ENST00000539520;ENST00000544202	.|D;D;D;D;D;D	.|0.93953	.|-3.32;-3.32;-3.32;-3.32;-3.32;-3.32	4.71|4.71	3.81|3.81	0.43845|0.43845	.|Cystathionine beta-synthase, core (3);	.|0.585786	.|0.18098	.|N	.|0.151783	D|D	0.94961|0.94961	0.8370|0.8370	M|M	0.83384|0.83384	2.64|2.64	0.09310|0.09310	N|N	0.999999|0.999999	.|B;P;P	.|0.37636	.|0.368;0.603;0.603	.|B;P;B	.|0.46389	.|0.381;0.515;0.285	D|D	0.89463|0.89463	0.3738|0.3738	5|10	.|0.52906	.|T	.|0.07	-16.5352|-16.5352	13.6972|13.6972	0.62587|0.62587	0.0:0.3214:0.6786:0.0|0.0:0.3214:0.6786:0.0	.|.	.|428;428;385	.|P35520-2;P35520;B7Z2D6	.|.;CBS_HUMAN;.	S|I	16;82|428;428;428;428;428;385;340	.|ENSP00000381225:T428I;ENSP00000381231:T428I;ENSP00000352643:T428I;ENSP00000344460:T428I;ENSP00000381234:T428I;ENSP00000439332:T340I	.|ENSP00000344460:T428I	P|T	-|-	1|2	0|0	CBS|CBS	43352088|43352088	0.110000|0.110000	0.22057|0.22057	0.054000|0.054000	0.19295|0.19295	0.010000|0.010000	0.07245|0.07245	1.894000|1.894000	0.39768|0.39768	0.965000|0.965000	0.38133|0.38133	0.558000|0.558000	0.71614|0.71614	CCA|ACC		0.662	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195525.1	NM_000071	
TRPM2	7226	hgsc.bcm.edu	37	21	45810873	45810873	+	Missense_Mutation	SNP	C	C	T	rs182004440		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr21:45810873C>T	ENST00000397928.1	+	10	1850	c.1405C>T	c.(1405-1407)Cgc>Tgc	p.R469C	TRPM2_ENST00000397932.2_Missense_Mutation_p.R469C|TRPM2_ENST00000300482.5_Missense_Mutation_p.R469C|TRPM2_ENST00000300481.9_Missense_Mutation_p.R469C|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	469					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)	p.R469C(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGACATTGCCCGCAGTGAGAT	0.577													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21492	0.0		0.0	False		,,,				2504	0.0				p.R469C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1405T	21						.	C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	151.0	137.0	142.0		1405	3.7	1.0	21		142	0,8600		0,0,4300	no	missense	TRPM2	NM_003307.3	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	469/1504	45810873	1,13005	2203	4300	6503	44635301	SO:0001583	missense	7226	exon10			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1405C>T	21.37:g.45810873C>T	ENSP00000381023:p.Arg469Cys		44635301	NM_003307	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	CCDS13710.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	21.0	4.087090	0.76642	2.27E-4	0.0	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	4.6	3.65	0.41850	.	0.267853	0.37219	N	0.002187	T	0.56558	0.1993	M	0.87456	2.885	0.53688	D	0.99997	D;D	0.89917	1.0;1.0	P;P	0.56216	0.794;0.724	T	0.66674	-0.5864	10	0.87932	D	0	-33.7015	12.5326	0.56124	0.2851:0.7149:0.0:0.0	.	469;469	E9PGK7;O94759	.;TRPM2_HUMAN	C	469	ENSP00000300482:R469C;ENSP00000381023:R469C;ENSP00000300481:R469C;ENSP00000381026:R469C	ENSP00000300481:R469C	R	+	1	0	TRPM2	44635301	0.627000	0.27129	1.000000	0.80357	0.980000	0.70556	1.062000	0.30555	2.282000	0.76494	0.655000	0.94253	CGC		0.577	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307	
MYH11	4629	hgsc.bcm.edu	37	16	15917183	15917183	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr16:15917183C>T	ENST00000300036.5	-	3	540	c.431G>A	c.(430-432)gGc>gAc	p.G144D	MYH11_ENST00000452625.2_Missense_Mutation_p.G144D|MYH11_ENST00000396324.3_Missense_Mutation_p.G144D|MYH11_ENST00000576790.2_Missense_Mutation_p.G144D	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	144	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.G144D(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCTCTTCTTGCCCTTGTACAT	0.572			T	CBFB	AML																																p.G144D			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G431A	16						.						247.0	171.0	197.0					16																	15917183		2197	4300	6497	15824684	SO:0001583	missense	4629	exon3			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.431G>A	16.37:g.15917183C>T	ENSP00000300036:p.Gly144Asp		15824684	NM_001040114	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	34	5.374883	0.95923	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9	5.58	5.58	0.84498	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.96503	0.8859	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.998;0.998;0.998;0.998	D;D;D;D;D	0.79784	0.984;0.993;0.993;0.993;0.993	D	0.96850	0.9624	10	0.87932	D	0	.	18.557	0.91089	0.0:1.0:0.0:0.0	.	144;144;144;144;144	Q4G140;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	D	144	ENSP00000300036:G144D;ENSP00000345136:G144D;ENSP00000379616:G144D;ENSP00000407821:G144D	ENSP00000300036:G144D	G	-	2	0	MYH11	15824684	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.626000	0.88956	0.655000	0.94253	GGC		0.572	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	
ACSM5	54988	hgsc.bcm.edu	37	16	20448399	20448399	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr16:20448399C>A	ENST00000331849.4	+	11	1481	c.1334C>A	c.(1333-1335)tCa>tAa	p.S445*		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	445					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.S445*(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ACAGCTGCATCAGAACAAGGG	0.507																																					p.S445X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1334A	16						.						123.0	116.0	119.0					16																	20448399		2203	4300	6503	20355900	SO:0001587	stop_gained	54988	exon11				CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1334C>A	16.37:g.20448399C>A	ENSP00000327916:p.Ser445*		20355900	NM_017888	Q96AV1|Q96CX8|Q9NWV3	Nonsense_Mutation	SNP	ENST00000331849.4	37	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	C	34	5.407318	0.96051	.	.	ENSG00000183549	ENST00000331849	.	.	.	5.15	3.08	0.35506	.	0.869155	0.09867	N	0.745486	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-7.9416	10.0842	0.42408	0.0:0.7139:0.2033:0.0828	.	.	.	.	X	445	.	ENSP00000327916:S445X	S	+	2	0	ACSM5	20355900	0.003000	0.15002	0.037000	0.18230	0.697000	0.40408	1.693000	0.37742	1.309000	0.44985	0.650000	0.86243	TCA		0.507	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888	
GGA2	23062	hgsc.bcm.edu	37	16	23497386	23497386	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr16:23497386T>C	ENST00000309859.4	-	8	830	c.748A>G	c.(748-750)Agc>Ggc	p.S250G	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	250	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)	p.S250G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		CGGTACATGCTCAGCATCTCC	0.552																																					p.S250G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A748G	16						.						141.0	104.0	117.0					16																	23497386		2197	4300	6497	23404887	SO:0001583	missense	23062	exon8			AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.748A>G	16.37:g.23497386T>C	ENSP00000311962:p.Ser250Gly		23404887	NM_015044	D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP	ENST00000309859.4	37	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	T	12.68	2.010308	0.35511	.	.	ENSG00000103365	ENST00000309859	T	0.44881	0.91	6.07	3.82	0.43975	GAT (2);	0.322802	0.39407	N	0.001376	T	0.35682	0.0940	L	0.49126	1.545	0.80722	D	1	B	0.17852	0.024	B	0.25987	0.065	T	0.08638	-1.0712	10	0.23302	T	0.38	-14.425	8.9655	0.35874	0.0:0.1514:0.0:0.8486	.	250	Q9UJY4	GGA2_HUMAN	G	250	ENSP00000311962:S250G	ENSP00000311962:S250G	S	-	1	0	GGA2	23404887	0.720000	0.27996	1.000000	0.80357	0.986000	0.74619	0.973000	0.29422	0.529000	0.28599	0.533000	0.62120	AGC		0.552	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1		
PLK1	5347	hgsc.bcm.edu	37	16	23703550	23703550	+	IGR	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr16:23703550G>T	ENST00000300093.4	+	0	2227				ERN2_ENST00000256797.4_Missense_Mutation_p.L783I|ERN2_ENST00000457008.2_Missense_Mutation_p.L683I	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1						activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.L783I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GCCCCTGTGAGGATGTTTGCC	0.612																																					p.L783I	Colon(12;240 564 27038 33155)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2347A	16						.						93.0	95.0	94.0					16																	23703550		2197	4300	6497	23611051	SO:0001628	intergenic_variant	10595	exon18				CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984		16.37:g.23703550G>T			23611051	NM_033266	Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775307	0.70107	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.38560	1.13;1.13	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000001	T	0.50803	0.1637	N	0.25201	0.72	0.58432	D	0.99999	D;D	0.76494	0.998;0.999	D;D	0.91635	0.996;0.999	T	0.41305	-0.9516	10	0.27785	T	0.31	.	17.2343	0.86994	0.0:0.0:1.0:0.0	.	683;735	E7ETG2;A5YM65	.;.	I	783;683	ENSP00000256797:L783I;ENSP00000413812:L683I	ENSP00000256797:L783I	L	-	1	0	ERN2	23611051	1.000000	0.71417	0.995000	0.50966	0.616000	0.37450	3.625000	0.54238	2.655000	0.90218	0.655000	0.94253	CTC		0.612	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030	
CD19	930	hgsc.bcm.edu	37	16	28943369	28943369	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr16:28943369G>A	ENST00000324662.3	+	1	92	c.48G>A	c.(46-48)atG>atA	p.M16I	CD19_ENST00000567541.1_Missense_Mutation_p.M16I|CD19_ENST00000538922.1_Missense_Mutation_p.M16I			P15391	CD19_HUMAN	CD19 molecule	16					B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)	p.M16I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						TCACCCCCATGGAAGTCAGGC	0.602																																					p.M16I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G48A	16						.						115.0	104.0	108.0					16																	28943369		2197	4300	6497	28850870	SO:0001583	missense	930	exon1				CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.48G>A	16.37:g.28943369G>A	ENSP00000313419:p.Met16Ile		28850870	NM_001178098	A0N0P9|F5H635|Q96S68|Q9BRD6	Missense_Mutation	SNP	ENST00000324662.3	37	CCDS10644.1	.	.	.	.	.	.	.	.	.	.	G	9.981	1.228208	0.22542	.	.	ENSG00000177455	ENST00000538922;ENST00000380673;ENST00000324662	T;T	0.34859	1.34;1.34	5.24	1.59	0.23543	.	2.166720	0.02001	N	0.046279	T	0.26846	0.0657	N	0.19112	0.55	0.09310	N	1	B;B	0.13145	0.006;0.007	B;B	0.16722	0.009;0.016	T	0.17868	-1.0355	10	0.33940	T	0.23	1.9934	7.049	0.25063	0.3539:0.0:0.6461:0.0	.	16;16	F5H635;P15391	.;CD19_HUMAN	I	16;1;16	ENSP00000437940:M16I;ENSP00000313419:M16I	ENSP00000313419:M16I	M	+	3	0	CD19	28850870	0.002000	0.14202	0.000000	0.03702	0.077000	0.17291	0.916000	0.28651	0.054000	0.16065	0.558000	0.71614	ATG		0.602	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2		
CLUAP1	23059	hgsc.bcm.edu	37	16	3562437	3562437	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr16:3562437G>A	ENST00000576634.1	+	5	598	c.454G>A	c.(454-456)Gca>Aca	p.A152T	LA16c-306E5.3_ENST00000574423.2_RNA|CLUAP1_ENST00000571025.1_Missense_Mutation_p.A152T|CLUAP1_ENST00000341633.5_Missense_Mutation_p.A152T|CLUAP1_ENST00000417763.2_5'UTR|CLUAP1_ENST00000572600.1_Intron	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	152					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)		p.A152T(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						CTCCAAAGGAGCATCTCTGTA	0.423																																					p.A152T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G454A	16						.						107.0	102.0	104.0					16																	3562437		2197	4300	6497	3502438	SO:0001583	missense	23059	exon5			BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"""Intraflagellar transport homologs"""	19009	protein-coding gene	gene with protein product	"""flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)"", ""cilia and flagella associated protein 22"""					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.454G>A	16.37:g.3562437G>A	ENSP00000460850:p.Ala152Thr		3502438	NM_015041	O75138|Q65ZA3|Q9H8R4|Q9H8T1	Missense_Mutation	SNP	ENST00000576634.1	37	CCDS32381.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329676	0.95733	.	.	ENSG00000103351	ENST00000341633	T	0.46451	0.87	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.63965	0.2556	M	0.74389	2.26	0.80722	D	1	D	0.63046	0.992	D	0.65773	0.938	T	0.64655	-0.6356	10	0.49607	T	0.09	-10.4201	16.8993	0.86109	0.0:0.0:1.0:0.0	.	152	Q96AJ1	CLUA1_HUMAN	T	152	ENSP00000344392:A152T	ENSP00000344392:A152T	A	+	1	0	CLUAP1	3502438	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	9.231000	0.95317	2.580000	0.87095	0.655000	0.94253	GCA		0.423	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437883.2	NM_024793	
CREBBP	1387	hgsc.bcm.edu	37	16	3781414	3781414	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr16:3781414C>T	ENST00000262367.5	-	30	5760	c.4951G>A	c.(4951-4953)Gac>Aac	p.D1651N	CREBBP_ENST00000382070.3_Missense_Mutation_p.D1613N	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1651	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.D1651N(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGGTCGGGGTCGACGATGGGG	0.632			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																														p.D1651N			Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4951A	16						.						35.0	25.0	28.0					16																	3781414		2194	4300	6494	3721415	SO:0001583	missense	1387	exon30			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4951G>A	16.37:g.3781414C>T	ENSP00000262367:p.Asp1651Asn		3721415	NM_004380	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	c	17.65	3.442700	0.63067	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.91521	-2.86;-2.76	5.87	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.91586	0.7342	M	0.92412	3.305	0.80722	D	1	B;B	0.34255	0.445;0.257	B;B	0.20577	0.03;0.011	D	0.91731	0.5396	10	0.87932	D	0	-27.8575	14.9851	0.71342	0.0:0.9319:0.0:0.0681	.	1681;1651	Q4LE28;Q92793	.;CBP_HUMAN	N	1651;1681;1613;186	ENSP00000262367:D1651N;ENSP00000371502:D1613N	ENSP00000262367:D1651N	D	-	1	0	CREBBP	3721415	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.818000	0.86416	1.498000	0.48600	-0.136000	0.14681	GAC		0.632	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
GDPD3	79153	hgsc.bcm.edu	37	16	30116236	30116236	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr16:30116236C>A	ENST00000406256.3	-	10	1291	c.914G>T	c.(913-915)cGg>cTg	p.R305L	RP11-455F5.3_ENST00000515455.2_RNA|RP11-455F5.4_ENST00000566190.1_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	305	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)	p.R305L(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						CAGGTAGTGCCGCAGGGCTGT	0.522																																					p.R305L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G914T	16						.						83.0	80.0	81.0					16																	30116236		2197	4300	6497	30023737	SO:0001583	missense	79153	exon10			AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.914G>T	16.37:g.30116236C>A	ENSP00000384363:p.Arg305Leu		30023737	NM_024307	Q9H652	Missense_Mutation	SNP	ENST00000406256.3	37	CCDS10671.2	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837759	0.50951	.	.	ENSG00000102886	ENST00000406256;ENST00000360688	T	0.10860	2.83	4.65	4.65	0.58169	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.294112	0.30437	N	0.009624	T	0.11410	0.0278	L	0.48218	1.51	0.19300	N	0.999971	B	0.18166	0.026	B	0.17979	0.02	T	0.11275	-1.0594	10	0.35671	T	0.21	.	12.9008	0.58125	0.0:1.0:0.0:0.0	.	305	Q7L5L3	GDPD3_HUMAN	L	305;243	ENSP00000384363:R305L	ENSP00000353909:R243L	R	-	2	0	GDPD3	30023737	0.012000	0.17670	0.994000	0.49952	0.926000	0.56050	1.775000	0.38584	2.421000	0.82119	0.561000	0.74099	CGG		0.522	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	NM_024307	
GPT2	84706	hgsc.bcm.edu	37	16	46960942	46960942	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr16:46960942C>A	ENST00000340124.4	+	11	1586	c.1474C>A	c.(1474-1476)Cac>Aac	p.H492N	GPT2_ENST00000440783.2_Missense_Mutation_p.H392N	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	492					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)	p.H492N(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	AGGCACTTACCACTTCAGGTA	0.542																																					p.H392N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1174A	16						.						100.0	88.0	92.0					16																	46960942		2203	4300	6503	45518443	SO:0001583	missense	84706	exon11				CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.1474C>A	16.37:g.46960942C>A	ENSP00000345282:p.His492Asn		45518443	NM_001142466	Q8N9E2	Missense_Mutation	SNP	ENST00000340124.4	37	CCDS10725.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.043663	0.93685	.	.	ENSG00000166123	ENST00000340124;ENST00000440783	D;T	0.90197	-2.63;1.91	4.94	4.94	0.65067	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.97467	0.9171	H	0.98388	4.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99257	1.0889	10	0.87932	D	0	.	18.5083	0.90905	0.0:1.0:0.0:0.0	.	392;492	Q8TD30-2;Q8TD30	.;ALAT2_HUMAN	N	492;392	ENSP00000345282:H492N;ENSP00000413804:H392N	ENSP00000345282:H492N	H	+	1	0	GPT2	45518443	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.759000	0.85235	2.456000	0.83038	0.655000	0.94253	CAC		0.542	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2		
NETO2	81831	hgsc.bcm.edu	37	16	47162340	47162340	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr16:47162340C>T	ENST00000562435.1	-	4	761	c.377G>A	c.(376-378)aGc>aAc	p.S126N	NETO2_ENST00000303155.5_Missense_Mutation_p.S126N	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	126	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)		p.S126N(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)				TAATGGAGGGCTTTTCACGCC	0.388										HNSCC(25;0.065)																											p.S126N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G377A	16						.						119.0	119.0	119.0					16																	47162340		2202	4300	6502	45719841	SO:0001583	missense	81831	exon4			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.377G>A	16.37:g.47162340C>T	ENSP00000455169:p.Ser126Asn		45719841	NM_018092	J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Missense_Mutation	SNP	ENST00000562435.1	37	CCDS10727.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.781463	0.31502	.	.	ENSG00000171208	ENST00000303155	T	0.17854	2.25	5.71	3.77	0.43336	CUB (5);	0.079027	0.85682	N	0.000000	T	0.12689	0.0308	N	0.25992	0.78	0.45930	D	0.998766	B;B	0.18166	0.026;0.026	B;B	0.23275	0.037;0.045	T	0.08066	-1.0740	10	0.27082	T	0.32	.	12.2805	0.54760	0.0:0.865:0.0:0.135	.	126;126	Q32NC3;Q8NC67	.;NETO2_HUMAN	N	126	ENSP00000306726:S126N	ENSP00000306726:S126N	S	-	2	0	NETO2	45719841	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.059000	0.41384	0.773000	0.33404	0.650000	0.86243	AGC		0.388	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2	NM_018092	
ANKS3	124401	hgsc.bcm.edu	37	16	4749171	4749171	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr16:4749171C>T	ENST00000304283.4	-	12	1585	c.1291G>A	c.(1291-1293)Gcc>Acc	p.A431T	ANKS3_ENST00000585773.1_Missense_Mutation_p.A358T|ANKS3_ENST00000446014.2_Missense_Mutation_p.A302T	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	431	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.							p.A431T(1)		endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						AGCAGTGCGGCAAGGTCCTGG	0.612																																					p.A431T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1291A	16						.						53.0	47.0	49.0					16																	4749171		2197	4300	6497	4689172	SO:0001583	missense	124401	exon12			AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.1291G>A	16.37:g.4749171C>T	ENSP00000304586:p.Ala431Thr		4689172	NM_133450	B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	37	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.657993	0.67586	.	.	ENSG00000168096	ENST00000304283;ENST00000446014	D;D	0.84944	-1.92;-1.92	5.65	5.65	0.86999	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.048308	0.85682	D	0.000000	D	0.87811	0.6271	N	0.21617	0.685	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.88863	0.3327	10	0.66056	D	0.02	-0.114	19.07	0.93130	0.0:1.0:0.0:0.0	.	431	Q6ZW76	ANKS3_HUMAN	T	431;302	ENSP00000304586:A431T;ENSP00000406796:A302T	ENSP00000304586:A431T	A	-	1	0	ANKS3	4689172	0.997000	0.39634	0.229000	0.23960	0.012000	0.07955	3.608000	0.54109	2.826000	0.97356	0.563000	0.77884	GCC		0.612	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450	
ANKS3	124401	hgsc.bcm.edu	37	16	4751048	4751048	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr16:4751048G>A	ENST00000304283.4	-	11	1501	c.1207C>T	c.(1207-1209)Cgc>Tgc	p.R403C	ANKS3_ENST00000450067.2_Missense_Mutation_p.R197C|ANKS3_ENST00000585773.1_Missense_Mutation_p.R330C|ANKS3_ENST00000446014.2_Missense_Mutation_p.R274C	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	403								p.R403C(1)		endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GTTGCAGCGCGGGGAGGCCAC	0.562																																					p.R403C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1207T	16						.						144.0	153.0	150.0					16																	4751048		2197	4300	6497	4691049	SO:0001583	missense	124401	exon11			AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.1207C>T	16.37:g.4751048G>A	ENSP00000304586:p.Arg403Cys		4691049	NM_133450	B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	37	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.380168	0.24944	.	.	ENSG00000168096	ENST00000304283;ENST00000446014;ENST00000450067	T;T;T	0.48522	1.29;3.04;0.81	5.71	-5.16	0.02857	.	0.336131	0.36303	N	0.002668	T	0.17023	0.0409	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.006;0.0	B;B	0.04013	0.001;0.0	T	0.03287	-1.1052	10	0.37606	T	0.19	-12.9625	2.1938	0.03906	0.1976:0.363:0.1035:0.3359	.	197;403	Q6ZWA7;Q6ZW76	.;ANKS3_HUMAN	C	403;274;197	ENSP00000304586:R403C;ENSP00000406796:R274C;ENSP00000388270:R197C	ENSP00000304586:R403C	R	-	1	0	ANKS3	4691049	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.854000	0.04299	-0.916000	0.03818	-1.461000	0.01025	CGC		0.562	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450	
ABCC11	85320	hgsc.bcm.edu	37	16	48226585	48226585	+	Missense_Mutation	SNP	C	C	T	rs557262879	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr16:48226585C>T	ENST00000394747.1	-	19	2901	c.2552G>A	c.(2551-2553)gGc>gAc	p.G851D	ABCC11_ENST00000353782.5_Missense_Mutation_p.G851D|ABCC11_ENST00000356608.2_Missense_Mutation_p.G851D|ABCC11_ENST00000394748.1_Missense_Mutation_p.G851D|ABCC11_ENST00000537808.1_3'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	851	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.G851D(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TGCAATGTTGCCCAGGTCTGC	0.557													c|||	5	0.000998403	0.0	0.0	5008	,	,		16924	0.0		0.0	False		,,,				2504	0.0051				p.G851D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2552A	16						.						156.0	150.0	152.0					16																	48226585		2201	4300	6501	46784086	SO:0001583	missense	85320	exon20			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.2552G>A	16.37:g.48226585C>T	ENSP00000378230:p.Gly851Asp		46784086	NM_145186	Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	c	9.128	1.010726	0.19277	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67	4.93	1.92	0.25849	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.265692	0.34932	N	0.003567	D	0.84388	0.5461	L	0.46741	1.465	0.24371	N	0.994837	B;B	0.29162	0.197;0.235	B;B	0.34824	0.119;0.19	T	0.68712	-0.5336	10	0.16896	T	0.51	-2.8079	5.2206	0.15366	0.0:0.6495:0.1678:0.1827	.	851;851	Q96J66-2;Q96J66	.;ABCCB_HUMAN	D	851	ENSP00000311326:G851D;ENSP00000349017:G851D;ENSP00000378231:G851D;ENSP00000378230:G851D	ENSP00000311326:G851D	G	-	2	0	ABCC11	46784086	0.169000	0.23002	0.001000	0.08648	0.000000	0.00434	1.397000	0.34543	0.293000	0.22520	-0.964000	0.02622	GGC		0.557	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583	
PIGQ	9091	hgsc.bcm.edu	37	16	630889	630889	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr16:630889T>C	ENST00000026218.5	+	9	1536	c.1448T>C	c.(1447-1449)cTg>cCg	p.L483P	PIGQ_ENST00000409527.2_Missense_Mutation_p.L483P|PIGQ_ENST00000321878.5_Missense_Mutation_p.L483P	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	483	Leu-rich.				C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|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)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)	p.L483P(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GTGCAGGGCCTGATCCATCTG	0.662																																					p.L483P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1448C	16						.						141.0	138.0	139.0					16																	630889		2201	4300	6501	570890	SO:0001583	missense	9091	exon9			AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.1448T>C	16.37:g.630889T>C	ENSP00000026218:p.Leu483Pro		570890	NM_148920	A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.430771	0.62844	.	.	ENSG00000007541	ENST00000409527;ENST00000321878;ENST00000026218;ENST00000540241	T;T;T	0.52057	0.68;0.68;1.98	5.22	4.13	0.48395	.	0.181985	0.39407	N	0.001378	T	0.50514	0.1620	L	0.27053	0.805	0.80722	D	1	D;D;D	0.71674	0.997;0.997;0.998	P;P;D	0.66351	0.876;0.897;0.943	T	0.51896	-0.8647	10	0.87932	D	0	-3.1915	8.6707	0.34147	0.0:0.0867:0.0:0.9133	.	497;483;483	E7ERP4;Q9BRB3;Q9BRB3-2	.;PIGQ_HUMAN;.	P	483;483;483;41	ENSP00000386760:L483P;ENSP00000326674:L483P;ENSP00000026218:L483P	ENSP00000026218:L483P	L	+	2	0	PIGQ	570890	1.000000	0.71417	0.976000	0.42696	0.976000	0.68499	4.909000	0.63314	0.842000	0.35045	0.418000	0.28097	CTG		0.662	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204	
CSNK2A2	1459	hgsc.bcm.edu	37	16	58201152	58201152	+	Silent	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr16:58201152G>T	ENST00000262506.3	-	8	868	c.685C>A	c.(685-687)Cga>Aga	p.R229R	CSNK2A2_ENST00000566813.1_5'UTR	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	229	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.R229R(1)		central_nervous_system(1)	1						GGTTCCCTTCGAAAGATCATG	0.418																																					p.R229R	Melanoma(54;119 1219 18349 35700 39738)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C685A	16						.						130.0	110.0	117.0					16																	58201152		2198	4300	6498	56758653	SO:0001819	synonymous_variant	1459	exon8			M55268	CCDS10794.1	16q21	2013-01-17			ENSG00000070770	ENSG00000070770			2459	protein-coding gene	gene with protein product		115442				2174700, 1766873	Standard	NM_001896		Approved	CSNK2A1	uc002enc.3	P19784	OTTHUMG00000133488	ENST00000262506.3:c.685C>A	16.37:g.58201152G>T			56758653	NM_001896		Silent	SNP	ENST00000262506.3	37	CCDS10794.1																																																																																				0.418	CSNK2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257386.2	NM_001896	
SMPD3	55512	hgsc.bcm.edu	37	16	68404895	68404895	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr16:68404895C>T	ENST00000219334.5	-	3	1793	c.1190G>A	c.(1189-1191)tGc>tAc	p.C397Y	SMPD3_ENST00000568373.1_Missense_Mutation_p.C397Y|SMPD3_ENST00000566009.1_5'UTR|SMPD3_ENST00000563226.1_Missense_Mutation_p.C397Y	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	397					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.C397Y(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GAAGCTGCAGCAGCCCTGGCA	0.562																																					p.C397Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1190A	16						.						63.0	51.0	55.0					16																	68404895		2198	4300	6498	66962396	SO:0001583	missense	55512	exon3			AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.1190G>A	16.37:g.68404895C>T	ENSP00000219334:p.Cys397Tyr		66962396	NM_018667	B7ZL82|Q2M1S8	Missense_Mutation	SNP	ENST00000219334.5	37	CCDS10867.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759133	0.69763	.	.	ENSG00000103056	ENST00000219334	T	0.26957	1.7	5.24	4.25	0.50352	Endonuclease/exonuclease/phosphatase (2);	0.137936	0.64402	D	0.000002	T	0.41858	0.1177	M	0.63843	1.955	0.80722	D	1	P;P;D	0.61080	0.925;0.731;0.989	P;B;P	0.57911	0.567;0.357;0.829	T	0.31194	-0.9952	10	0.56958	D	0.05	-10.3833	13.6476	0.62290	0.0:0.8445:0.1555:0.0	.	397;397;397	B7ZL82;B7ZL84;Q9NY59	.;.;NSMA2_HUMAN	Y	397	ENSP00000219334:C397Y	ENSP00000219334:C397Y	C	-	2	0	SMPD3	66962396	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.662000	0.61525	2.447000	0.82792	0.563000	0.77884	TGC		0.562	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3	NM_018667	
CHTF8	54921	hgsc.bcm.edu	37	16	69152270	69152270	+	3'UTR	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr16:69152270G>T	ENST00000448552.2	-	0	2545				CHTF8_ENST00000518041.1_3'UTR|CHTF8_ENST00000523421.1_3'UTR|CHTF8_ENST00000306585.6_3'UTR|HAS3_ENST00000219322.3_Missense_Mutation_p.G251C	NM_001039690.3|NM_001040146.3	NP_001034779.1|NP_001035236.1	P0CG13	CTF8_HUMAN	CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae)						cell cycle (GO:0007049)|DNA replication (GO:0006260)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G251C(1)									CCCAGGGAAAGGTATGGCAGT	0.547																																					p.G251C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G751T	16						.						92.0	75.0	80.0					16																	69152270		2198	4300	6498	67709771	SO:0001624	3_prime_UTR_variant	3038	exon4				CCDS42185.1	16q22.1	2009-01-14				ENSG00000168802			24353	protein-coding gene	gene with protein product		613202				12766176	Standard	NM_001039690		Approved	FLJ20400, CTF8, DERPC	uc002ewo.2	P0CG12		ENST00000448552.2:c.*2058C>A	16.37:g.69152270G>T			67709771	NM_138612	A8MYX8|Q71E72|Q8NDH8|Q8WV66|Q9NX73	Missense_Mutation	SNP	ENST00000448552.2	37	CCDS42185.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.754016	0.31046	.	.	ENSG00000103044	ENST00000219322	T	0.51817	0.69	4.98	-0.775	0.10988	.	.	.	.	.	T	0.31071	0.0785	.	.	.	0.80722	D	1	B	0.15473	0.013	B	0.13407	0.009	T	0.18178	-1.0345	8	0.72032	D	0.01	.	1.5039	0.02482	0.1671:0.1414:0.4009:0.2906	.	251	O00219-2	.	C	251	ENSP00000219322:G251C	ENSP00000219322:G251C	G	+	1	0	HAS3	67709771	1.000000	0.71417	0.989000	0.46669	0.804000	0.45430	0.663000	0.25053	-0.154000	0.11118	-0.122000	0.15005	GGT		0.547	CHTF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376352.2	NM_017804	
NFAT5	10725	hgsc.bcm.edu	37	16	69681175	69681175	+	Silent	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr16:69681175T>C	ENST00000354436.2	+	3	762	c.444T>C	c.(442-444)ccT>ccC	p.P148P	NFAT5_ENST00000349945.1_Silent_p.P72P|NFAT5_ENST00000432919.1_Silent_p.P166P|NFAT5_ENST00000566899.1_Silent_p.P72P|NFAT5_ENST00000567239.1_Silent_p.P166P|NFAT5_ENST00000393742.2_Silent_p.P72P	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	148					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P72P(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CACCACCACCTGAGGACTTGC	0.512																																					p.P72P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T216C	16						.						144.0	123.0	130.0					16																	69681175		2198	4300	6498	68238676	SO:0001819	synonymous_variant	10725	exon5			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.444T>C	16.37:g.69681175T>C			68238676	NM_138714	A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Silent	SNP	ENST00000354436.2	37	CCDS10881.1																																																																																				0.512	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714	
WWP2	11060	hgsc.bcm.edu	37	16	69971486	69971486	+	Silent	SNP	C	C	T	rs148940139		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr16:69971486C>T	ENST00000359154.2	+	21	2375	c.2274C>T	c.(2272-2274)agC>agT	p.S758S	WWP2_ENST00000356003.2_Silent_p.S758S|WWP2_ENST00000542271.1_Silent_p.S642S|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Silent_p.S758S|WWP2_ENST00000568684.1_Silent_p.S319S	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	758	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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.S758S(2)		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						TAGACATGAGCGACTGGCAGA	0.637																																					p.S319S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C957T	16						.	C	,	1,4395		0,1,2197	100.0	83.0	89.0		2274,957	-3.8	1.0	16	dbSNP_134	89	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	WWP2	NM_007014.3,NM_199424.1	,	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	,	758/871,319/432	69971486	1,12995	2198	4300	6498	68528987	SO:0001819	synonymous_variant	11060	exon11			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.2274C>T	16.37:g.69971486C>T			68528987	NM_199424	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Silent	SNP	ENST00000359154.2	37	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	C	8.998	0.979464	0.18812	2.27E-4	0.0	ENSG00000198373	ENST00000545099	.	.	.	5.42	-3.85	0.04243	.	.	.	.	.	T	0.51568	0.1682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51172	-0.8739	4	.	.	.	.	8.8107	0.34965	0.105:0.3038:0.0:0.5912	.	.	.	.	V	318	.	.	A	+	2	0	WWP2	68528987	0.000000	0.05858	0.977000	0.42913	0.991000	0.79684	-1.785000	0.01767	-0.471000	0.06891	-0.258000	0.10820	GCG		0.637	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014	
ZNF19	7567	hgsc.bcm.edu	37	16	71509780	71509780	+	Nonsense_Mutation	SNP	G	G	A	rs575955916	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr16:71509780G>A	ENST00000288177.5	-	6	925	c.670C>T	c.(670-672)Cga>Tga	p.R224*	ZNF19_ENST00000564230.1_Nonsense_Mutation_p.R224*|ZNF19_ENST00000565637.1_Nonsense_Mutation_p.R182*|ZNF19_ENST00000567225.1_Intron|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000565100.2_Nonsense_Mutation_p.R154*	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	224			R -> Q (in dbSNP:rs10500557). {ECO:0000269|PubMed:14702039}.		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.R224*(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		TTAAAGGCTCGCCCACACTCC	0.458													G|||	2	0.000399361	0.0	0.0029	5008	,	,		19753	0.0		0.0	False		,,,				2504	0.0				p.R224X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C670T	16						.						66.0	75.0	72.0					16																	71509780		2198	4300	6498	70067281	SO:0001587	stop_gained	7567	exon6			X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"""Zinc fingers, C2H2-type"", ""-"""	12981	protein-coding gene	gene with protein product		194525	"""zinc finger protein 19 (KOX 12)"""			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.670C>T	16.37:g.71509780G>A	ENSP00000288177:p.Arg224*		70067281	NM_006961	A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Nonsense_Mutation	SNP	ENST00000288177.5	37	CCDS10901.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995896	0.74703	.	.	ENSG00000157429	ENST00000288177	.	.	.	3.4	1.05	0.20165	.	0.000000	0.37136	N	0.002224	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	8.7473	0.34594	0.0:0.0:0.3938:0.6062	.	.	.	.	X	224	.	ENSP00000288177:R224X	R	-	1	2	ZNF19	70067281	0.001000	0.12720	0.989000	0.46669	0.952000	0.60782	1.126000	0.31344	0.191000	0.20236	-0.262000	0.10625	CGA		0.458	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2	NM_006961	
RFWD3	55159	hgsc.bcm.edu	37	16	74695187	74695187	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr16:74695187T>C	ENST00000361070.4	-	2	258	c.161A>G	c.(160-162)cAg>cGg	p.Q54R	RFWD3_ENST00000571750.1_Missense_Mutation_p.Q54R	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	54					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q54R(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						AGGAGCTGGCTGGAGGATGGA	0.632																																					p.Q54R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A161G	16						.						92.0	83.0	86.0					16																	74695187		2198	4300	6498	73252688	SO:0001583	missense	55159	exon2			AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.161A>G	16.37:g.74695187T>C	ENSP00000354361:p.Gln54Arg		73252688	NM_018124	A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	ENST00000361070.4	37	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	T	12.40	1.925915	0.34002	.	.	ENSG00000168411	ENST00000361070;ENST00000444004	T	0.18810	2.19	3.75	3.75	0.43078	.	0.710771	0.12581	N	0.456398	T	0.21145	0.0509	M	0.61703	1.905	0.09310	N	1	P	0.38922	0.651	B	0.33521	0.165	T	0.17289	-1.0374	10	0.72032	D	0.01	-13.5046	9.1441	0.36921	0.0:0.0:0.0:1.0	.	54	Q6PCD5	RFWD3_HUMAN	R	54	ENSP00000354361:Q54R	ENSP00000354361:Q54R	Q	-	2	0	RFWD3	73252688	0.334000	0.24739	0.087000	0.20705	0.003000	0.03518	2.749000	0.47492	1.933000	0.56026	0.460000	0.39030	CAG		0.632	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124	
MLKL	197259	hgsc.bcm.edu	37	16	74729565	74729565	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr16:74729565G>T	ENST00000308807.7	-	2	554	c.91C>A	c.(91-93)Ctg>Atg	p.L31M	MLKL_ENST00000306247.7_Missense_Mutation_p.L31M	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like									p.L31M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						CGGTGGCCCAGGCGCCGGCAC	0.537																																					p.L31M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C91A	16						.						58.0	62.0	61.0					16																	74729565		2198	4300	6498	73287066	SO:0001583	missense	197259	exon2			AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.91C>A	16.37:g.74729565G>T	ENSP00000308351:p.Leu31Met		73287066	NM_152649		Missense_Mutation	SNP	ENST00000308807.7	37	CCDS32487.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928265	0.52759	.	.	ENSG00000168404	ENST00000308807;ENST00000306247	D;T	0.84516	-1.86;1.89	4.42	3.46	0.39613	.	0.171941	0.39687	N	0.001282	D	0.86752	0.6008	L	0.36672	1.1	0.09310	N	0.999998	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.988	T	0.77213	-0.2670	10	0.66056	D	0.02	-10.5083	8.7786	0.34778	0.1097:0.0:0.8903:0.0	.	31;31	Q8NB16-2;Q8NB16	.;MLKL_HUMAN	M	31	ENSP00000308351:L31M;ENSP00000303118:L31M	ENSP00000303118:L31M	L	-	1	2	MLKL	73287066	1.000000	0.71417	0.020000	0.16555	0.034000	0.12701	2.535000	0.45685	1.170000	0.42753	0.650000	0.86243	CTG		0.537	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649	
TAF1C	9013	hgsc.bcm.edu	37	16	84218588	84218588	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr16:84218588A>G	ENST00000567759.1	-	2	189	c.7T>C	c.(7-9)Ttc>Ctc	p.F3L	TAF1C_ENST00000565544.1_5'Flank|TAF1C_ENST00000341690.6_Intron|TAF1C_ENST00000378541.4_Missense_Mutation_p.F3L|TAF1C_ENST00000570117.1_Intron|TAF1C_ENST00000541676.1_Intron|TAF1C_ENST00000566732.1_Missense_Mutation_p.F3L	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	3					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|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 from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.F3L(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GAGCTGGGGAAGTCCATCCTG	0.592																																					p.F3L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T7C	16						.						40.0	33.0	35.0					16																	84218588		2200	4300	6500	82776089	SO:0001583	missense	9013	exon2			L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.7T>C	16.37:g.84218588A>G	ENSP00000455265:p.Phe3Leu		82776089	NM_005679	B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	37	CCDS32496.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.198160	0.38806	.	.	ENSG00000103168	ENST00000378541;ENST00000537450	T	0.12569	2.67	4.01	4.01	0.46588	.	0.000000	0.64402	D	0.000005	T	0.32763	0.0840	M	0.72118	2.19	0.80722	D	1	D;D;D	0.71674	0.974;0.996;0.998	D;D;D	0.76071	0.969;0.98;0.987	T	0.05468	-1.0883	10	0.87932	D	0	-26.7153	9.5076	0.39056	1.0:0.0:0.0:0.0	.	3;3;3	F5H7W6;Q15572-6;Q15572	.;.;TAF1C_HUMAN	L	3	ENSP00000367802:F3L	ENSP00000367802:F3L	F	-	1	0	TAF1C	82776089	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	2.528000	0.45624	1.812000	0.52913	0.454000	0.30748	TTC		0.592	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353	
GALNS	2588	hgsc.bcm.edu	37	16	88901686	88901686	+	Missense_Mutation	SNP	G	G	A	rs141544939		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr16:88901686G>A	ENST00000268695.5	-	8	921	c.833C>T	c.(832-834)gCg>gTg	p.A278V	GALNS_ENST00000542788.1_Missense_Mutation_p.A203V	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	278	Catalytic domain.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)	p.A278V(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		GGTGTTGTCCGCGACGTGCAG	0.572																																					p.A278V	GBM(129;1929 2344 25209 33204)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C833T	16						.	G	VAL/ALA	3,4391	6.2+/-15.9	0,3,2194	146.0	103.0	118.0		833	-4.8	0.0	16	dbSNP_134	118	0,8600		0,0,4300	no	missense	GALNS	NM_000512.4	64	0,3,6494	AA,AG,GG		0.0,0.0683,0.0231	benign	278/523	88901686	3,12991	2197	4300	6497	87429187	SO:0001583	missense	2588	exon8			D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"""Arylsulfatase family"""	4122	protein-coding gene	gene with protein product	"""Morquio syndrome"", ""mucopolysaccharidosis type IVA"""	612222	"""galactosamine (N-acetyl)-6-sulfate sulfatase"""			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.833C>T	16.37:g.88901686G>A	ENSP00000268695:p.Ala278Val		87429187	NM_000512	Q86VK3	Missense_Mutation	SNP	ENST00000268695.5	37	CCDS10970.1	.	.	.	.	.	.	.	.	.	.	G	7.317	0.616183	0.14129	6.83E-4	0.0	ENSG00000141012	ENST00000268695;ENST00000542788	D;D	0.94092	-3.35;-3.35	5.14	-4.8	0.03190	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	1.688330	0.02681	N	0.109653	D	0.91192	0.7225	M	0.83603	2.65	0.09310	N	1	B;B	0.18166	0.015;0.026	B;B	0.14578	0.007;0.011	T	0.72843	-0.4170	10	0.34782	T	0.22	.	2.6639	0.05034	0.1538:0.428:0.1467:0.2715	.	278;278	B2R6P1;P34059	.;GALNS_HUMAN	V	278;203	ENSP00000268695:A278V;ENSP00000438197:A203V	ENSP00000268695:A278V	A	-	2	0	GALNS	87429187	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.125000	0.15749	-0.369000	0.08028	-0.321000	0.08615	GCG		0.572	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1		
MPPE1	65258	hgsc.bcm.edu	37	18	11886525	11886525	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr18:11886525G>A	ENST00000588072.1	-	9	2061	c.840C>T	c.(838-840)gaC>gaT	p.D280D	MPPE1_ENST00000317235.7_Intron|MPPE1_ENST00000399978.2_Silent_p.D281D|MPPE1_ENST00000344987.7_Silent_p.D258D|MPPE1_ENST00000592755.1_5'Flank|MPPE1_ENST00000309976.9_Intron	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	280					ER to Golgi vesicle-mediated transport (GO:0006888)|GPI anchor biosynthetic process (GO:0006506)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GPI anchor binding (GO:0034235)|manganese ion binding (GO:0030145)|phosphoric diester hydrolase activity (GO:0008081)	p.D280D(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						GTGAAAGCACGTCATAGTTCT	0.488																																					p.D280D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C840T	18						.						146.0	108.0	121.0					18																	11886525		2203	4300	6503	11876525	SO:0001819	synonymous_variant	65258	exon9			BC002877	CCDS11853.1, CCDS56054.1	18p11.21	2004-04-30			ENSG00000154889	ENSG00000154889			15988	protein-coding gene	gene with protein product		611900				11978971	Standard	NM_001242904		Approved		uc002kqf.3	Q53F39	OTTHUMG00000131661	ENST00000588072.1:c.840C>T	18.37:g.11886525G>A			11876525	NM_023075	B0YJ39|B0YJ40|B0YJ41|B5ME53|B7WNJ3|D3DUI5|D3DUI7|Q6GMP1|Q8TAD6|Q8TE26|Q8WZ32|Q9BU58|Q9H958|Q9HAI4	Silent	SNP	ENST00000588072.1	37	CCDS11853.1																																																																																				0.488	MPPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254562.2	NM_023075	
CEP192	55125	hgsc.bcm.edu	37	18	13096300	13096300	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr18:13096300C>T	ENST00000325971.8	+	34	6356	c.4763C>T	c.(4762-4764)gCg>gTg	p.A1588V	CEP192_ENST00000430049.2_Missense_Mutation_p.A1709V|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000506447.1_Missense_Mutation_p.A2184V			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1588					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.A1588V(1)|p.A2184V(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGATGTGTCGCGCCAGAGTAA	0.473																																					p.A2184V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C6551T	18						.						108.0	102.0	104.0					18																	13096300		2203	4300	6503	13086300	SO:0001583	missense	55125	exon36			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.4763C>T	18.37:g.13096300C>T	ENSP00000317156:p.Ala1588Val		13086300	NM_032142	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37		.	.	.	.	.	.	.	.	.	.	C	8.712	0.912373	0.17907	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.05855	3.38;3.38;3.38	5.31	-2.99	0.05497	.	0.972561	0.08457	N	0.942981	T	0.04137	0.0115	L	0.40543	1.245	0.09310	N	1	B;P;P;B	0.36465	0.098;0.554;0.473;0.008	B;B;B;B	0.27887	0.008;0.084;0.039;0.002	T	0.35992	-0.9766	10	0.48119	T	0.1	-0.4059	3.6358	0.08148	0.5974:0.1568:0.0811:0.1648	.	1709;2184;188;786	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	V	2184;1588;1588;1709;188	ENSP00000427550:A2184V;ENSP00000317156:A1588V;ENSP00000389190:A1709V	ENSP00000317156:A1588V	A	+	2	0	CEP192	13086300	0.761000	0.28439	0.000000	0.03702	0.001000	0.01503	3.379000	0.52440	-0.393000	0.07739	-0.479000	0.04858	GCG		0.473	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142	
RNMT	8731	hgsc.bcm.edu	37	18	13740223	13740223	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr18:13740223G>A	ENST00000383314.2	+	6	977	c.737G>A	c.(736-738)cGt>cAt	p.R246H	RNMT_ENST00000535051.1_Missense_Mutation_p.R4H|RNMT_ENST00000589866.1_Missense_Mutation_p.R246H|RNMT_ENST00000543302.2_Missense_Mutation_p.R246H|RNMT_ENST00000262173.3_Missense_Mutation_p.R246H|RNMT_ENST00000592764.1_Missense_Mutation_p.R246H			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	246	mRNA cap 0 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00895}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)	p.R246H(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						ATGAAAAATCGTCGTGATAGT	0.358																																					p.R246H	GBM(29;474 594 19092 36647 41529)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G737A	18						.						112.0	103.0	106.0					18																	13740223		2203	4300	6503	13730223	SO:0001583	missense	8731	exon6			AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.737G>A	18.37:g.13740223G>A	ENSP00000372804:p.Arg246His		13730223	NM_003799	B0YJ90|D3DUJ5|O94996|Q9UIJ9	Missense_Mutation	SNP	ENST00000383314.2	37	CCDS11867.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230461	0.58777	.	.	ENSG00000101654	ENST00000383314;ENST00000535051;ENST00000543302;ENST00000544744;ENST00000262173	.	.	.	5.76	4.84	0.62591	.	0.146891	0.64402	D	0.000012	T	0.52041	0.1710	M	0.65975	2.015	0.37804	D	0.927809	B;B	0.27192	0.171;0.121	B;B	0.21917	0.035;0.037	T	0.57063	-0.7875	9	0.45353	T	0.12	-24.3257	9.0747	0.36513	0.0729:0.0:0.7793:0.1478	.	246;246	O43148-2;O43148	.;MCES_HUMAN	H	246;4;246;68;246	.	ENSP00000262173:R246H	R	+	2	0	RNMT	13730223	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.429000	0.52800	2.718000	0.92993	0.655000	0.94253	CGT		0.358	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799	
LAMA3	3909	hgsc.bcm.edu	37	18	21496635	21496635	+	Silent	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr18:21496635C>A	ENST00000313654.9	+	60	8140	c.7899C>A	c.(7897-7899)ggC>ggA	p.G2633G	LAMA3_ENST00000399516.3_Silent_p.G2577G|LAMA3_ENST00000269217.6_Silent_p.G1024G|LAMA3_ENST00000587184.1_Silent_p.G968G|LAMA3_ENST00000588770.1_3'UTR	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2633	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.G2633G(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TGGATAGAGGCTTGCTGTTCT	0.413																																					p.G968G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2904A	18						.						153.0	129.0	137.0					18																	21496635		2203	4300	6503	19750633	SO:0001819	synonymous_variant	3909	exon22			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.7899C>A	18.37:g.21496635C>A			19750633	NM_001127718	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	CCDS42419.1																																																																																				0.413	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	
ZNF521	25925	hgsc.bcm.edu	37	18	22806271	22806271	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr18:22806271A>C	ENST00000361524.3	-	4	1759	c.1611T>G	c.(1609-1611)tgT>tgG	p.C537W	ZNF521_ENST00000584787.1_Missense_Mutation_p.C317W|ZNF521_ENST00000538137.2_Missense_Mutation_p.C537W|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	537					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.C537W(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CACTGAGGTCACAATGAACCT	0.443			T	PAX5	ALL																																p.C537W			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1611G	18						.						78.0	85.0	82.0					18																	22806271		2203	4300	6503	21060269	SO:0001583	missense	25925	exon4			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1611T>G	18.37:g.22806271A>C	ENSP00000354794:p.Cys537Trp		21060269	NM_015461	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	A	4.773	0.143799	0.09134	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09163	3.01;3.03	5.87	0.901	0.19284	.	0.000000	0.85682	D	0.000000	T	0.18509	0.0444	L	0.29908	0.895	0.52501	D	0.999954	D	0.89917	1.0	D	0.87578	0.998	T	0.00534	-1.1684	10	0.87932	D	0	-14.9318	10.7243	0.46059	0.7722:0.0:0.2278:0.0	.	537	Q96K83	ZN521_HUMAN	W	537;571;537	ENSP00000354794:C537W;ENSP00000382352:C537W	ENSP00000354794:C537W	C	-	3	2	ZNF521	21060269	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	1.207000	0.32333	0.129000	0.18514	0.528000	0.53228	TGT		0.443	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461	
DSC3	1825	hgsc.bcm.edu	37	18	28612193	28612193	+	Missense_Mutation	SNP	G	G	T	rs559266982		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr18:28612193G>T	ENST00000360428.4	-	2	199	c.119C>A	c.(118-120)cCt>cAt	p.P40H	DSC3_ENST00000434452.1_Missense_Mutation_p.P40H	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	40					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.P40H(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TAGTTTAGAAGGTACATTAAG	0.318																																					p.P40H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C119A	18						.						87.0	84.0	85.0					18																	28612193		2202	4300	6502	26866191	SO:0001583	missense	1825	exon2			X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.119C>A	18.37:g.28612193G>T	ENSP00000353608:p.Pro40His		26866191	NM_001941	A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268597	0.80469	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.50277	0.75;0.75	5.35	5.35	0.76521	Cadherin prodomain-like (1);Cadherin-like (1);	.	.	.	.	T	0.71600	0.3359	M	0.81497	2.545	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74914	-0.3502	9	0.87932	D	0	.	17.9938	0.89176	0.0:0.0:1.0:0.0	.	40;40	Q14574;Q14574-2	DSC3_HUMAN;.	H	40	ENSP00000353608:P40H;ENSP00000392068:P40H	ENSP00000353608:P40H	P	-	2	0	DSC3	26866191	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.037000	0.70956	2.780000	0.95670	0.655000	0.94253	CCT		0.318	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423	
SMAD2	4087	hgsc.bcm.edu	37	18	45372068	45372068	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr18:45372068G>A	ENST00000402690.2	-	9	1495	c.1101C>T	c.(1099-1101)ggC>ggT	p.G367G	SMAD2_ENST00000591214.1_Silent_p.G337G|SMAD2_ENST00000586040.1_Silent_p.G337G|SMAD2_ENST00000262160.6_Silent_p.G367G|SMAD2_ENST00000356825.4_Silent_p.G337G	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	367	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)	p.G367G(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						CAGGGTGCCAGCCATATCTCT	0.408																																					p.G337G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1011T	18						.						96.0	94.0	95.0					18																	45372068		2203	4300	6503	43626066	SO:0001819	synonymous_variant	4087	exon8			U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.1101C>T	18.37:g.45372068G>A			43626066	NM_001135937		Silent	SNP	ENST00000402690.2	37	CCDS11934.1																																																																																				0.408	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	NM_005901	
MALT1	10892	hgsc.bcm.edu	37	18	56390386	56390386	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr18:56390386G>T	ENST00000348428.3	+	10	1383	c.1125G>T	c.(1123-1125)caG>caT	p.Q375H	MALT1_ENST00000345724.3_Missense_Mutation_p.Q364H|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	375	Caspase-like.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)	p.Q364H(1)		central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TACTGAGACAGCTGGACTTCA	0.418			T	BIRC3	MALT																																p.Q364H			Dom	yes		18	18q21	10892	mucosa associated lymphoid tissue lymphoma translocation gene 1		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1092T	18						.						202.0	184.0	190.0					18																	56390386		2203	4300	6503	54541366	SO:0001583	missense	10892	exon9				CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6819	protein-coding gene	gene with protein product	"""paracaspase"""	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.1125G>T	18.37:g.56390386G>T	ENSP00000319279:p.Gln375His		54541366	NM_173844	Q9NTB7|Q9ULX4	Missense_Mutation	SNP	ENST00000348428.3	37	CCDS11967.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203847	0.58234	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.20881	2.04;2.04	5.7	1.48	0.22813	Peptidase C14, caspase catalytic (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.000000	0.85682	D	0.000000	T	0.37265	0.0997	L	0.60455	1.87	0.48236	D	0.999617	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.04650	-1.0936	10	0.49607	T	0.09	.	9.7874	0.40684	0.4077:0.0:0.5923:0.0	.	364;375	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	H	375;364	ENSP00000319279:Q375H;ENSP00000304161:Q364H	ENSP00000304161:Q364H	Q	+	3	2	MALT1	54541366	1.000000	0.71417	0.963000	0.40424	0.714000	0.41099	3.215000	0.51169	0.391000	0.25143	0.655000	0.94253	CAG		0.418	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2		
ZNF532	55205	hgsc.bcm.edu	37	18	56586290	56586290	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr18:56586290G>A	ENST00000336078.4	+	4	1547	c.771G>A	c.(769-771)gcG>gcA	p.A257A	ZNF532_ENST00000591808.1_Silent_p.A257A|ZNF532_ENST00000591230.1_Silent_p.A257A|ZNF532_ENST00000589288.1_Silent_p.A257A|ZNF532_ENST00000591083.1_Silent_p.A257A	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	257					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.A257A(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CCAGCGTTGCGCCATCAAAGA	0.537																																					p.A257A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G771A	18						.						68.0	65.0	66.0					18																	56586290		2203	4300	6503	54737270	SO:0001819	synonymous_variant	55205	exon4			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.771G>A	18.37:g.56586290G>A			54737270	NM_018181	Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	ENST00000336078.4	37	CCDS11969.1																																																																																				0.537	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181	
ADCYAP1	116	hgsc.bcm.edu	37	18	905403	905403	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr18:905403G>A	ENST00000579794.1	+	1	294	c.16G>A	c.(16-18)Gga>Aga	p.G6R	RP11-672L10.2_ENST00000581719.2_RNA|ADCYAP1_ENST00000450565.3_Missense_Mutation_p.G6R|RP11-672L10.2_ENST00000577358.1_RNA|RP11-672L10.2_ENST00000580612.1_RNA|RP11-672L10.3_ENST00000582554.1_RNA	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	6					activation of adenylate cyclase activity (GO:0007190)|ATP metabolic process (GO:0046034)|behavioral fear response (GO:0001662)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|cellular response to glucocorticoid stimulus (GO:0071385)|female pregnancy (GO:0007565)|histamine secretion (GO:0001821)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of acute inflammatory response to non-antigenic stimulus (GO:0002878)|negative regulation of cell cycle (GO:0045786)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of Rho GTPase activity (GO:0034259)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|pituitary gland development (GO:0021983)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of somatostatin secretion (GO:0090274)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)|regulation of postsynaptic membrane potential (GO:0060078)|regulation of protein localization (GO:0032880)|response to ethanol (GO:0045471)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|terminal bouton (GO:0043195)	neuropeptide hormone activity (GO:0005184)|peptide hormone receptor binding (GO:0051428)|pituitary adenylate cyclase activating polypeptide activity (GO:0016521)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)	p.G6R(1)		endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CATGTGTAGCGGAGCGAGGCT	0.617																																					p.G6R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G16A	18						.						95.0	86.0	89.0					18																	905403		2203	4300	6503	895403	SO:0001583	missense	116	exon2			S83513	CCDS11825.1	18p11	2013-02-28			ENSG00000141433	ENSG00000141433		"""Endogenous ligands"""	241	protein-coding gene	gene with protein product	"""prepro-PACAP"""	102980				1730060	Standard	NM_001099733		Approved	PACAP	uc010dkh.4	P18509	OTTHUMG00000131479	ENST00000579794.1:c.16G>A	18.37:g.905403G>A	ENSP00000462647:p.Gly6Arg		895403	NM_001099733	B2R7N4|Q52LQ0	Missense_Mutation	SNP	ENST00000579794.1	37	CCDS11825.1	.	.	.	.	.	.	.	.	.	.	G	9.921	1.212284	0.22289	.	.	ENSG00000141433	ENST00000450565;ENST00000400219;ENST00000269200	.	.	.	4.91	3.9	0.45041	.	0.095487	0.64402	D	0.000001	T	0.24774	0.0601	L	0.46157	1.445	0.33139	D	0.544178	P	0.48998	0.918	B	0.36378	0.223	T	0.27297	-1.0078	9	0.19590	T	0.45	.	3.2288	0.06741	0.4181:0.0:0.5819:0.0	.	6	P18509	PACA_HUMAN	R	145;6;6	.	ENSP00000269200:G6R	G	+	1	0	ADCYAP1	895403	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.407000	0.59754	2.277000	0.76020	0.467000	0.42956	GGA		0.617	ADCYAP1-003	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440765.3	NM_001117	
PTPRM	5797	hgsc.bcm.edu	37	18	7955265	7955265	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr18:7955265G>T	ENST00000332175.8	+	7	2022	c.985G>T	c.(985-987)Gac>Tac	p.D329Y	PTPRM_ENST00000400053.4_Missense_Mutation_p.D267Y|PTPRM_ENST00000400060.4_Missense_Mutation_p.D329Y|PTPRM_ENST00000444013.1_Missense_Mutation_p.D116Y|PTPRM_ENST00000580170.1_Missense_Mutation_p.D329Y	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	329	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D329Y(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GAGCTGGAATGACCGGCAGCC	0.562																																					p.D329Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G985T	18						.						47.0	45.0	46.0					18																	7955265		2203	4300	6503	7945265	SO:0001583	missense	5797	exon7			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.985G>T	18.37:g.7955265G>T	ENSP00000331418:p.Asp329Tyr		7945265	NM_002845	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.882220	0.51908	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	6.02	6.02	0.97574	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66934	0.2840	L	0.38531	1.155	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.982;0.995;0.995	T	0.67114	-0.5752	10	0.87932	D	0	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	116;329;329	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	Y	329;329;267;116	ENSP00000331418:D329Y;ENSP00000382933:D329Y;ENSP00000382927:D267Y;ENSP00000387608:D116Y	ENSP00000331418:D329Y	D	+	1	0	PTPRM	7945265	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	9.869000	0.99810	2.865000	0.98341	0.655000	0.94253	GAC		0.562	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1		
SERPINB12	89777	hgsc.bcm.edu	37	18	61228432	61228432	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr18:61228432C>A	ENST00000269491.1	+	4	499	c.499C>A	c.(499-501)Caa>Aaa	p.Q167K	SERPINB12_ENST00000382768.1_Missense_Mutation_p.Q187K	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	167					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q167K(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						ATGTCAATCCCAAGGTAAGAA	0.423																																					p.Q167K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C499A	18						.						56.0	54.0	55.0					18																	61228432		2203	4300	6503	59379412	SO:0001583	missense	89777	exon4			AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.499C>A	18.37:g.61228432C>A	ENSP00000269491:p.Gln167Lys		59379412	NM_080474	Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038225	0.35989	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.81996	-1.56;-1.56	5.59	5.59	0.84812	Serpin domain (3);	0.194063	0.36740	N	0.002433	T	0.73353	0.3576	L	0.38175	1.15	0.33804	D	0.627014	B;P	0.46859	0.038;0.885	B;B	0.38428	0.029;0.273	T	0.77670	-0.2501	10	0.20046	T	0.44	.	13.8958	0.63770	0.252:0.748:0.0:0.0	.	187;167	Q3SYB4;Q96P63	.;SPB12_HUMAN	K	167;187	ENSP00000269491:Q167K;ENSP00000372218:Q187K	ENSP00000269491:Q167K	Q	+	1	0	SERPINB12	59379412	0.000000	0.05858	0.977000	0.42913	0.405000	0.30901	-1.306000	0.02735	2.789000	0.95967	0.655000	0.94253	CAA		0.423	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474	
GPR128	84873	hgsc.bcm.edu	37	3	100364948	100364948	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:100364948C>G	ENST00000273352.3	+	9	1374	c.1106C>G	c.(1105-1107)cCa>cGa	p.P369R	GPR128_ENST00000475887.1_Missense_Mutation_p.P74R|SNORA31_ENST00000517180.1_RNA	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	369					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.P369R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GTCTTTAGTCCAAAGGTGAGT	0.383																																					p.P369R	Pancreas(87;185 1975 7223 18722)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1106G	3						.						73.0	72.0	72.0					3																	100364948		2203	4300	6503	101847638	SO:0001583	missense	84873	exon9			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1106C>G	3.37:g.100364948C>G	ENSP00000273352:p.Pro369Arg		101847638	NM_032787	Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.946070	0.34377	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.42131	0.98;1.41	5.19	5.19	0.71726	.	0.139011	0.33401	N	0.004941	T	0.46580	0.1400	M	0.74881	2.28	0.36030	D	0.839363	B;P	0.51933	0.384;0.949	B;B	0.41571	0.096;0.36	T	0.64943	-0.6288	10	0.62326	D	0.03	.	15.8128	0.78578	0.0:1.0:0.0:0.0	.	74;369	E9PHI0;Q96K78	.;GP128_HUMAN	R	369;74	ENSP00000273352:P369R;ENSP00000419788:P74R	ENSP00000273352:P369R	P	+	2	0	GPR128	101847638	0.787000	0.28750	0.151000	0.22473	0.338000	0.28826	3.243000	0.51392	2.568000	0.86640	0.655000	0.94253	CCA		0.383	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1		
GHRL	51738	hgsc.bcm.edu	37	3	10331508	10331508	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:10331508C>A	ENST00000335542.8	-	4	1033	c.163G>T	c.(163-165)Ggc>Tgc	p.G55C	GHRL_ENST00000430179.1_Missense_Mutation_p.G54C|GHRL_ENST00000437422.2_Missense_Mutation_p.G43C|GHRL_ENST00000450603.1_Missense_Mutation_p.G55C|GHRLOS_ENST00000439539.3_RNA|GHRL_ENST00000476283.1_5'Flank|GHRLOS_ENST00000603771.1_RNA|GHRL_ENST00000457360.1_Missense_Mutation_p.G55C|GHRLOS_ENST00000605105.1_RNA|GHRL_ENST00000429122.1_Missense_Mutation_p.G55C|GHRL_ENST00000439975.2_Intron|GHRL_ENST00000422159.1_Missense_Mutation_p.G55C|GHRL_ENST00000449554.2_Missense_Mutation_p.G54C|GHRL_ENST00000449238.2_Missense_Mutation_p.G42C|GHRLOS_ENST00000605014.1_RNA|GHRL_ENST00000446937.2_Intron|GHRL_ENST00000287656.7_Missense_Mutation_p.G54C			Q9UBU3	GHRL_HUMAN	ghrelin/obestatin prepropeptide	55					actin polymerization or depolymerization (GO:0008154)|activation of MAPK activity (GO:0000187)|adult feeding behavior (GO:0008343)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|cortisol secretion (GO:0043400)|decidualization (GO:0046697)|dendrite development (GO:0016358)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|glucose metabolic process (GO:0006006)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of locomotion (GO:0040013)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of synapse assembly (GO:0051965)|regulation of cell proliferation (GO:0042127)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to estrogen (GO:0043627)|response to hormone (GO:0009725)	axon (GO:0030424)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|ghrelin receptor binding (GO:0031768)|growth hormone-releasing hormone activity (GO:0016608)|protein tyrosine kinase activator activity (GO:0030296)	p.G55C(1)		breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						CGGAGCCAGCCTGCTAGAGCT	0.582																																					p.G54C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G160T	3						.						145.0	156.0	152.0					3																	10331508		2203	4300	6503	10306508	SO:0001583	missense	51738	exon3			AF296558	CCDS33700.1, CCDS46747.1, CCDS46748.1, CCDS46749.1, CCDS46750.1	3p26-p25	2013-02-26	2008-07-02		ENSG00000157017	ENSG00000157017		"""Endogenous ligands"""	18129	protein-coding gene	gene with protein product	"""prepro-appetite regulatory hormone"""	605353	"""ghrelin, growth hormone secretagogue receptor ligand"""			10930375, 10604470, 16284174	Standard	NR_024133		Approved	MTLRP, ghrelin, obestatin	uc010hdj.2	Q9UBU3	OTTHUMG00000155360	ENST00000335542.8:c.163G>T	3.37:g.10331508C>A	ENSP00000335074:p.Gly55Cys		10306508	NM_001134941	A8CF34|A8CF38|A8CF42|A8DN29|A8DN30|Q86YP8|Q8TAT9|Q9H3R3	Missense_Mutation	SNP	ENST00000335542.8	37	CCDS33700.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050612	0.55218	.	.	ENSG00000157017	ENST00000335542;ENST00000430179;ENST00000450603;ENST00000449554;ENST00000422159;ENST00000449238;ENST00000437422;ENST00000287656;ENST00000457360;ENST00000429122	T;T;T;T;T;T;T;T;T;T	0.49139	1.26;1.26;1.26;1.26;0.79;1.19;1.19;1.26;1.26;1.26	4.88	2.06	0.26882	.	0.323187	0.26601	N	0.023463	T	0.54078	0.1836	M	0.68952	2.095	0.09310	N	1	D;B;D;D;D	0.63046	0.985;0.102;0.958;0.975;0.992	P;B;P;P;P	0.56960	0.717;0.051;0.65;0.81;0.754	T	0.46816	-0.9164	10	0.72032	D	0.01	-8.4	5.2331	0.15432	0.0:0.6466:0.1674:0.1859	.	42;43;55;54;55	Q9UBU3-4;Q9UBU3-3;Q9UBU3;Q9UBU3-2;Q86YP8	.;.;GHRL_HUMAN;.;.	C	55;54;55;54;55;42;43;54;55;55	ENSP00000335074:G55C;ENSP00000399922:G54C;ENSP00000389192:G55C;ENSP00000415521:G54C;ENSP00000405464:G55C;ENSP00000388145:G42C;ENSP00000416768:G43C;ENSP00000287656:G54C;ENSP00000391406:G55C;ENSP00000414819:G55C	ENSP00000287656:G54C	G	-	1	0	GHRL	10306508	0.011000	0.17503	0.003000	0.11579	0.321000	0.28281	0.957000	0.29215	0.241000	0.21283	-0.137000	0.14449	GGC		0.582	GHRL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000339625.1	NM_016362	
CEP97	79598	hgsc.bcm.edu	37	3	101476617	101476617	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:101476617G>A	ENST00000341893.3	+	9	1919	c.1167G>A	c.(1165-1167)acG>acA	p.T389T	CEP97_ENST00000327230.4_Silent_p.T389T|CEP97_ENST00000494050.1_Intron			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	389	CCP110-binding.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)		p.T389T(1)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						ACATACAGACGGATGAGGACA	0.423																																					p.T389T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1167A	3						.						127.0	109.0	115.0					3																	101476617		2203	4300	6503	102959307	SO:0001819	synonymous_variant	79598	exon9			AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.1167G>A	3.37:g.101476617G>A			102959307	NM_024548	B5MDY8|Q8NA71|Q9H5T9	Silent	SNP	ENST00000341893.3	37	CCDS2944.1																																																																																				0.423	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548	
CD96	10225	hgsc.bcm.edu	37	3	111297945	111297945	+	Silent	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:111297945T>C	ENST00000283285.5	+	5	794	c.663T>C	c.(661-663)gaT>gaC	p.D221D	CD96_ENST00000352690.4_Silent_p.D205D|CD96_ENST00000438817.2_Silent_p.D205D	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	221	Ig-like V-type 2.				cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.D221D(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TACTTAAAGATAGAGTCAAGC	0.428									Opitz Trigonocephaly syndrome																												p.D205D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T615C	3						.						114.0	102.0	106.0					3																	111297945		2203	4300	6503	112780635	SO:0001819	synonymous_variant	10225	exon4	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.663T>C	3.37:g.111297945T>C			112780635	NM_005816	Q5JPB3	Silent	SNP	ENST00000283285.5	37	CCDS2959.1	.	.	.	.	.	.	.	.	.	.	T	1.110	-0.658453	0.03454	.	.	ENSG00000153283	ENST00000465428	.	.	.	4.64	2.76	0.32466	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.9349	5.5802	0.17245	0.195:0.6961:0.0:0.1089	.	.	.	.	Q	47	.	.	X	+	1	0	CD96	112780635	1.000000	0.71417	1.000000	0.80357	0.114000	0.19823	0.588000	0.23924	0.586000	0.29626	-0.242000	0.12053	TAG		0.428	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2		
PHLDB2	90102	hgsc.bcm.edu	37	3	111664181	111664181	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:111664181G>A	ENST00000431670.2	+	9	2875	c.2464G>A	c.(2464-2466)Gtt>Att	p.V822I	PHLDB2_ENST00000481953.1_Missense_Mutation_p.V779I|PHLDB2_ENST00000495180.1_Missense_Mutation_p.V408I|PHLDB2_ENST00000393925.3_Missense_Mutation_p.V822I|PHLDB2_ENST00000412622.1_Missense_Mutation_p.V779I|PHLDB2_ENST00000393923.3_Missense_Mutation_p.V806I	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	822						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)		p.V779I(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGGGTTTCCCGTTAACCCCAA	0.358																																					p.V822I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2464A	3						.						55.0	61.0	59.0					3																	111664181		2203	4299	6502	113146871	SO:0001583	missense	90102	exon9				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.2464G>A	3.37:g.111664181G>A	ENSP00000405405:p.Val822Ile		113146871	NM_001134439	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.925547	0.34002	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.76	2.96	0.34315	.	0.170760	0.40222	N	0.001141	T	0.26882	0.0658	L	0.27053	0.805	0.24335	N	0.994981	B;B;B;B	0.18166	0.001;0.007;0.026;0.026	B;B;B;B	0.13407	0.001;0.001;0.006;0.009	T	0.14364	-1.0475	10	0.30078	T	0.28	.	8.9608	0.35845	0.2459:0.0:0.7541:0.0	.	408;822;779;806	E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;PHLB2_HUMAN;.;.	I	806;806;822;779;779;822;779;408	ENSP00000377500:V806I;ENSP00000405405:V822I;ENSP00000405292:V779I;ENSP00000418296:V779I;ENSP00000377502:V822I;ENSP00000418319:V779I;ENSP00000420303:V408I	ENSP00000352764:V806I	V	+	1	0	PHLDB2	113146871	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.632000	0.37102	0.768000	0.33290	-0.137000	0.14449	GTT		0.358	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753	
HCLS1	3059	hgsc.bcm.edu	37	3	121350802	121350802	+	Missense_Mutation	SNP	G	G	A	rs201252242	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:121350802G>A	ENST00000314583.3	-	14	1443	c.1352C>T	c.(1351-1353)cCg>cTg	p.P451L	HCLS1_ENST00000428394.2_Missense_Mutation_p.P414L|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	451	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)	p.P451L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TACGTCGTCCGGATCAAAGGA	0.488													G|||	2	0.000399361	0.0	0.0	5008	,	,		20337	0.0		0.001	False		,,,				2504	0.001				p.P451L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1352T	3						.	G	LEU/PRO	0,4406		0,0,2203	159.0	156.0	157.0		1352	5.4	1.0	3		157	1,8599	1.2+/-3.3	0,1,4299	yes	missense	HCLS1	NM_005335.4	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	451/487	121350802	1,13005	2203	4300	6503	122833492	SO:0001583	missense	3059	exon14				CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"""cortactin-like"""	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.1352C>T	3.37:g.121350802G>A	ENSP00000320176:p.Pro451Leu		122833492	NM_005335	B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	ENST00000314583.3	37	CCDS3003.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	21.4	4.136318	0.77662	0.0	1.16E-4	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.30714	1.52;1.52	5.43	5.43	0.79202	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	T	0.54271	0.1848	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.55927	-0.8063	10	0.87932	D	0	-9.199	16.7194	0.85406	0.0:0.0:1.0:0.0	.	414;451	E7EVW7;P14317	.;HCLS1_HUMAN	L	451;414	ENSP00000320176:P451L;ENSP00000387645:P414L	ENSP00000320176:P451L	P	-	2	0	HCLS1	122833492	1.000000	0.71417	0.994000	0.49952	0.830000	0.47004	9.386000	0.97228	2.549000	0.85964	0.563000	0.77884	CCG		0.488	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335	
ADCY5	111	hgsc.bcm.edu	37	3	123046533	123046533	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:123046533C>T	ENST00000462833.1	-	7	3091	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K	ADCY5_ENST00000309879.5_Missense_Mutation_p.E277K|ADCY5_ENST00000491190.1_Missense_Mutation_p.E260K	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	627					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|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)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.E627K(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GCGTTGCGCTCGCCCCCACAG	0.642																																					p.E627K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1879A	3						.						91.0	71.0	78.0					3																	123046533		2203	4300	6503	124529223	SO:0001583	missense	111	exon7			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1879G>A	3.37:g.123046533C>T	ENSP00000419361:p.Glu627Lys		124529223	NM_183357	B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	C	36	5.798012	0.96952	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	5.52	5.52	0.82312	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.146381	0.43919	D	0.000502	D	0.87026	0.6075	L	0.41710	1.295	0.80722	D	1	P;D	0.69078	0.816;0.997	B;P	0.55965	0.375;0.788	D	0.84590	0.0666	10	0.27785	T	0.31	.	19.4472	0.94852	0.0:1.0:0.0:0.0	.	627;260	O95622;B3KWA8	ADCY5_HUMAN;.	K	627;260;277;186	ENSP00000419361:E627K;ENSP00000418537:E260K;ENSP00000308685:E277K;ENSP00000420082:E186K	ENSP00000308685:E277K	E	-	1	0	ADCY5	124529223	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.578000	0.87016	0.655000	0.94253	GAG		0.642	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048	
RAF1	5894	hgsc.bcm.edu	37	3	12641767	12641767	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:12641767C>T	ENST00000251849.4	-	9	1313	c.874G>A	c.(874-876)Gcc>Acc	p.A292T	RAF1_ENST00000542177.1_Missense_Mutation_p.A211T|RAF1_ENST00000442415.2_Missense_Mutation_p.A312T|RAF1_ENST00000534997.1_Missense_Mutation_p.A77T	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	292					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|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)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A292T(1)	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	CTGGACAGGGCTGAAGGTGAG	0.507			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																												p.A292T			Dom	yes		3	3p25	5894	v-raf-1 murine leukemia viral oncogene homolog 1		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G874A	3						.						82.0	76.0	78.0					3																	12641767		2203	4300	6503	12616767	SO:0001583	missense	5894	exon9	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"""C-Raf proto-oncogene, serine/threonine kinase"""	164760	"""v-raf-1 murine leukemia viral oncogene homolog 1"""			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.874G>A	3.37:g.12641767C>T	ENSP00000251849:p.Ala292Thr		12616767	NM_002880	B0LPH8|B2R5N3|Q15278|Q9UC20	Missense_Mutation	SNP	ENST00000251849.4	37	CCDS2612.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165626	0.38217	.	.	ENSG00000132155	ENST00000251849;ENST00000442415;ENST00000432427;ENST00000534997;ENST00000542177	T;T;T;T;T	0.75260	-0.92;-0.89;-0.9;-0.89;-0.91	5.82	5.82	0.92795	.	0.186932	0.47455	D	0.000222	T	0.64249	0.2581	L	0.29908	0.895	0.42665	D	0.993491	B;B;B	0.14805	0.004;0.011;0.004	B;B;B	0.12156	0.007;0.005;0.007	T	0.58940	-0.7547	10	0.13108	T	0.6	.	18.2796	0.90094	0.0:1.0:0.0:0.0	.	211;77;292	B4E0X2;B4E1N6;P04049	.;.;RAF1_HUMAN	T	292;312;171;77;211	ENSP00000251849:A292T;ENSP00000401888:A312T;ENSP00000398591:A171T;ENSP00000441186:A77T;ENSP00000443567:A211T	ENSP00000251849:A292T	A	-	1	0	RAF1	12616767	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.342000	0.43992	2.752000	0.94435	0.655000	0.94253	GCC		0.507	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880	
KALRN	8997	hgsc.bcm.edu	37	3	124044888	124044888	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:124044888A>G	ENST00000240874.3	+	7	1305	c.1148A>G	c.(1147-1149)cAt>cGt	p.H383R	KALRN_ENST00000360013.3_Missense_Mutation_p.H383R|KALRN_ENST00000460856.1_Missense_Mutation_p.H383R	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	383					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.H383R(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAGGCCGGTCATTATGCCTCA	0.557																																					p.H383R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1148G	3						.						116.0	102.0	106.0					3																	124044888		2203	4300	6503	125527578	SO:0001583	missense	8997	exon7			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1148A>G	3.37:g.124044888A>G	ENSP00000240874:p.His383Arg		125527578	NM_003947	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.93|17.93	3.509967|3.509967	0.64522|0.64522	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.53640|.	0.61;0.61;0.61|.	4.64|4.64	4.64|4.64	0.57946|0.57946	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74928|0.74928	0.3781|0.3781	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.991;1.0|.	D;D;D|.	0.91635|.	0.999;0.991;0.999|.	T|T	0.76785|0.76785	-0.2831|-0.2831	10|5	0.87932|.	D|.	0|.	.|.	14.5134|14.5134	0.67804|0.67804	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	383;383;383|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	R|V	383|361	ENSP00000418611:H383R;ENSP00000240874:H383R;ENSP00000353109:H383R|.	ENSP00000240874:H383R|.	H|I	+|+	2|1	0|0	KALRN|KALRN	125527578|125527578	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.259000|0.259000	0.26198|0.26198	9.087000|9.087000	0.94110|0.94110	2.074000|2.074000	0.62210|0.62210	0.533000|0.533000	0.62120|0.62120	CAT|ATT		0.557	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947	
GATA2	2624	hgsc.bcm.edu	37	3	128202816	128202816	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:128202816C>A	ENST00000341105.2	-	4	1235	c.904G>T	c.(904-906)Gcc>Tcc	p.A302S	GATA2_ENST00000430265.2_Missense_Mutation_p.A302S|GATA2_ENST00000489987.1_5'Flank|GATA2_ENST00000487848.1_Missense_Mutation_p.A302S	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	302					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A302S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		AGAGGGGTGGCTGTGGCCCCA	0.642			Mis		AML(CML blast transformation)																																p.A302S			Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G904T	3						.						50.0	49.0	49.0					3																	128202816		2203	4300	6503	129685506	SO:0001583	missense	2624	exon4			AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"""GATA zinc finger domain containing"""	4171	protein-coding gene	gene with protein product		137295	"""GATA-binding protein 2"""			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.904G>T	3.37:g.128202816C>A	ENSP00000345681:p.Ala302Ser		129685506	NM_032638	D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Missense_Mutation	SNP	ENST00000341105.2	37	CCDS3049.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475349	0.26511	.	.	ENSG00000179348	ENST00000341105;ENST00000430265;ENST00000487848	D;D;D	0.99413	-5.86;-5.86;-5.86	4.83	4.83	0.62350	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (5);	0.052578	0.85682	D	0.000000	D	0.95661	0.8589	N	0.01817	-0.705	0.58432	D	0.999995	B;B	0.19583	0.037;0.002	B;B	0.20184	0.028;0.004	D	0.94288	0.7526	10	0.02654	T	1	-7.5719	17.9063	0.88919	0.0:1.0:0.0:0.0	.	302;302	P23769-2;P23769	.;GATA2_HUMAN	S	302	ENSP00000345681:A302S;ENSP00000400259:A302S;ENSP00000417074:A302S	ENSP00000345681:A302S	A	-	1	0	GATA2	129685506	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.174000	0.65015	2.205000	0.71048	0.491000	0.48974	GCC		0.642	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	NM_032638	
PLXND1	23129	hgsc.bcm.edu	37	3	129304821	129304821	+	Missense_Mutation	SNP	C	C	T	rs146738111		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:129304821C>T	ENST00000324093.4	-	5	2003	c.1825G>A	c.(1825-1827)Gag>Aag	p.E609K	PLXND1_ENST00000393239.1_Missense_Mutation_p.E609K	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	609					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.E609K(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						ACATCGATCTCGGAAGGCAGG	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		19655	0.0		0.001	False		,,,				2504	0.0				p.E609K	Ovarian(97;366 1484 3738 22084 39045)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1825A	3						.	C	LYS/GLU	0,4406		0,0,2203	113.0	121.0	118.0		1825	5.0	0.9	3	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLXND1	NM_015103.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	609/1926	129304821	1,13005	2203	4300	6503	130787511	SO:0001583	missense	23129	exon5			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.1825G>A	3.37:g.129304821C>T	ENSP00000317128:p.Glu609Lys		130787511	NM_015103	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267111	0.23136	0.0	1.16E-4	ENSG00000004399	ENST00000324093;ENST00000393239;ENST00000505237	T;T;T	0.34275	1.42;1.37;2.89	4.98	4.98	0.66077	.	0.451987	0.23916	N	0.043296	T	0.29028	0.0721	L	0.28740	0.885	0.58432	D	0.999994	B	0.16802	0.019	B	0.12156	0.007	T	0.04413	-1.0953	10	0.36615	T	0.2	.	15.4084	0.74900	0.0:1.0:0.0:0.0	.	609	Q9Y4D7	PLXD1_HUMAN	K	609;609;161	ENSP00000317128:E609K;ENSP00000376931:E609K;ENSP00000426241:E161K	ENSP00000317128:E609K	E	-	1	0	PLXND1	130787511	0.996000	0.38824	0.870000	0.34147	0.350000	0.29205	3.667000	0.54547	2.317000	0.78254	0.561000	0.74099	GAG		0.657	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103	
HDAC11	79885	hgsc.bcm.edu	37	3	13546109	13546109	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:13546109C>A	ENST00000295757.3	+	10	1153	c.970C>A	c.(970-972)Ctc>Atc	p.L324I	HDAC11_ENST00000402271.1_Missense_Mutation_p.L245I|HDAC11_ENST00000433119.1_3'UTR|HDAC11_ENST00000446613.2_Missense_Mutation_p.L132I|HDAC11_ENST00000402259.1_Missense_Mutation_p.L158I|HDAC11_ENST00000522202.1_Missense_Mutation_p.L273I|HDAC11_ENST00000404040.1_Missense_Mutation_p.L224I|HDAC11_ENST00000437379.2_Missense_Mutation_p.L296I	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	324	Histone deacetylase.				chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|oligodendrocyte development (GO:0014003)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase activity (GO:0004407)|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)|transcription factor binding (GO:0008134)	p.L324I(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						TGGCCTGGGGCTCATTGGGCC	0.622																																					p.L273I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C817A	3						.						79.0	74.0	76.0					3																	13546109		2203	4300	6503	13521109	SO:0001583	missense	79885	exon10			AK025426	CCDS2615.1, CCDS46760.1	3p25.1	2008-07-18			ENSG00000163517	ENSG00000163517	3.5.1.98		19086	protein-coding gene	gene with protein product		607226				11948178	Standard	NM_001136041		Approved		uc003bxy.3	Q96DB2	OTTHUMG00000129800	ENST00000295757.3:c.970C>A	3.37:g.13546109C>A	ENSP00000295757:p.Leu324Ile		13521109	NM_001136041	B4DDK1|Q9H6I7|Q9H6X3|Q9NTC9	Missense_Mutation	SNP	ENST00000295757.3	37	CCDS2615.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228200	0.95173	.	.	ENSG00000163517	ENST00000295757;ENST00000402259;ENST00000402271;ENST00000446613;ENST00000404040;ENST00000522202;ENST00000437379	T;T;T;T;T;T;T	0.73469	-0.74;0.72;-0.75;0.72;-0.24;-0.7;-0.72	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.87124	0.6099	M	0.82323	2.585	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	D	0.88873	0.3334	10	0.87932	D	0	-10.2873	16.6271	0.84974	0.0:1.0:0.0:0.0	.	273;324	B4DDK1;Q96DB2	.;HDA11_HUMAN	I	324;158;245;132;224;273;296	ENSP00000295757:L324I;ENSP00000384706:L158I;ENSP00000384123:L245I;ENSP00000401487:L132I;ENSP00000385475:L224I;ENSP00000429794:L273I;ENSP00000395188:L296I	ENSP00000295757:L324I	L	+	1	0	HDAC11	13521109	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	3.591000	0.53986	2.516000	0.84829	0.561000	0.74099	CTC		0.622	HDAC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252028.5	NM_024827	
SLCO2A1	6578	hgsc.bcm.edu	37	3	133670138	133670138	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:133670138G>A	ENST00000310926.4	-	6	1048	c.775C>T	c.(775-777)Cta>Tta	p.L259L	SLCO2A1_ENST00000493729.1_Silent_p.L183L	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	259					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)	p.L259L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	AGCAGGCCTAGCCACCAGGCT	0.483																																					p.L259L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C775T	3						.						84.0	88.0	87.0					3																	133670138		2203	4300	6503	135152828	SO:0001819	synonymous_variant	6578	exon6				CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.775C>T	3.37:g.133670138G>A			135152828	NM_005630	Q86V98|Q8IUN2	Silent	SNP	ENST00000310926.4	37	CCDS3084.1																																																																																				0.483	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630	
PIK3CB	5291	hgsc.bcm.edu	37	3	138478130	138478130	+	Missense_Mutation	SNP	G	G	A	rs148660928	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:138478130G>A	ENST00000477593.1	-	2	129	c.56C>T	c.(55-57)gCg>gTg	p.A19V	PIK3CB_ENST00000289153.2_Missense_Mutation_p.A19V			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	19					activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.A19V(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	TGAATCCACCGCCCAGATGTC	0.458													G|||	3	0.000599042	0.0023	0.0	5008	,	,		15037	0.0		0.0	False		,,,				2504	0.0				p.A19V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C56T	3						.						85.0	82.0	83.0					3																	138478130		2203	4300	6503	139960820	SO:0001583	missense	5291	exon1				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.56C>T	3.37:g.138478130G>A	ENSP00000418143:p.Ala19Val		139960820	NM_006219	D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	CCDS3104.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	22.3	4.276363	0.80580	.	.	ENSG00000051382	ENST00000477593;ENST00000289153;ENST00000483968;ENST00000461451;ENST00000465581	T;T;T;T	0.74315	-0.47;-0.47;-0.83;-0.82	5.84	4.94	0.65067	.	0.108642	0.64402	D	0.000007	T	0.55178	0.1904	N	0.08118	0	0.80722	D	1	P	0.42757	0.789	B	0.36092	0.217	T	0.64681	-0.6350	10	0.52906	T	0.07	-12.2112	16.4047	0.83654	0.0:0.0:0.868:0.132	.	19	P42338	PK3CB_HUMAN	V	19	ENSP00000418143:A19V;ENSP00000289153:A19V;ENSP00000419857:A19V;ENSP00000420399:A19V	ENSP00000289153:A19V	A	-	2	0	PIK3CB	139960820	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.608000	0.82898	2.760000	0.94817	0.655000	0.94253	GCG		0.458	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1		
XRN1	54464	hgsc.bcm.edu	37	3	142095378	142095378	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:142095378C>A	ENST00000264951.4	-	24	2891	c.2774G>T	c.(2773-2775)gGa>gTa	p.G925V	XRN1_ENST00000392981.2_Missense_Mutation_p.G925V	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	925					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.G925V(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						AACAAGGTATCCACTCACTCC	0.328																																					p.G925V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2774T	3						.						42.0	44.0	43.0					3																	142095378		2202	4299	6501	143578068	SO:0001583	missense	54464	exon24			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.2774G>T	3.37:g.142095378C>A	ENSP00000264951:p.Gly925Val		143578068	NM_019001	Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041168	0.75732	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.29917	1.55;1.55	5.53	5.53	0.82687	.	0.115254	0.64402	D	0.000010	T	0.35856	0.0946	L	0.57536	1.79	0.80722	D	1	B;B;B	0.24092	0.007;0.097;0.059	B;B;B	0.29176	0.003;0.099;0.046	T	0.09640	-1.0665	10	0.23891	T	0.37	-19.8262	19.4474	0.94852	0.0:1.0:0.0:0.0	.	786;925;925	B3KW17;Q8IZH2-2;Q8IZH2	.;.;XRN1_HUMAN	V	925	ENSP00000264951:G925V;ENSP00000376707:G925V	ENSP00000264951:G925V	G	-	2	0	XRN1	143578068	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.672000	0.68102	2.614000	0.88457	0.591000	0.81541	GGA		0.328	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001	
PLS1	5357	hgsc.bcm.edu	37	3	142430754	142430754	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:142430754T>C	ENST00000337777.3	+	16	2008	c.1795T>C	c.(1795-1797)Tat>Cat	p.Y599H	PLS1_ENST00000457734.2_Missense_Mutation_p.Y599H|PLS1_ENST00000497002.1_Missense_Mutation_p.Y599H	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	599	Actin-binding 2.|CH 4. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.Y599H(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TGCCCGGATATATGCATTACC	0.373																																					p.Y599H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1795C	3						.						175.0	169.0	171.0					3																	142430754		2203	4300	6503	143913444	SO:0001583	missense	5357	exon16			L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.1795T>C	3.37:g.142430754T>C	ENSP00000336831:p.Tyr599His		143913444	NM_002670	A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	ENST00000337777.3	37	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.697672	0.88830	.	.	ENSG00000120756	ENST00000457734;ENST00000337777;ENST00000497002	D;D;D	0.94862	-3.54;-3.54;-3.54	5.7	5.7	0.88788	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97807	0.9280	M	0.90977	3.165	0.80722	D	1	D	0.63046	0.992	D	0.91635	0.999	D	0.98802	1.0740	10	0.87932	D	0	-16.7833	15.9629	0.79945	0.0:0.0:0.0:1.0	.	599	Q14651	PLSI_HUMAN	H	599	ENSP00000387890:Y599H;ENSP00000336831:Y599H;ENSP00000418700:Y599H	ENSP00000336831:Y599H	Y	+	1	0	PLS1	143913444	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.040000	0.89188	2.178000	0.69098	0.455000	0.32223	TAT		0.373	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670	
RFTN1	23180	hgsc.bcm.edu	37	3	16368363	16368363	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:16368363G>C	ENST00000334133.4	-	8	1439	c.1167C>G	c.(1165-1167)gaC>gaG	p.D389E	RFTN1_ENST00000483671.1_5'UTR|RFTN1_ENST00000432519.1_Missense_Mutation_p.D353E|OXNAD1_ENST00000435829.2_Intron|OXNAD1_ENST00000605932.1_Intron|OXNAD1_ENST00000544043.1_Intron|OXNAD1_ENST00000606098.1_Intron	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	389					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)	p.D389E(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GGGGCACGTAGTCTGTCTGCA	0.567																																					p.D389E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1167G	3						.						53.0	45.0	47.0					3																	16368363		2203	4300	6503	16343367	SO:0001583	missense	23180	exon8			D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.1167C>G	3.37:g.16368363G>C	ENSP00000334153:p.Asp389Glu		16343367	NM_015150	Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	37	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021314	0.75275	.	.	ENSG00000131378	ENST00000432519;ENST00000334133	T;T	0.59502	0.26;0.26	5.31	3.25	0.37280	.	0.049657	0.85682	D	0.000000	T	0.71626	0.3362	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72798	-0.4184	10	0.87932	D	0	-32.2596	6.9599	0.24591	0.3014:0.0:0.6986:0.0	.	353;389	G3XAJ6;Q14699	.;RFTN1_HUMAN	E	353;389	ENSP00000403926:D353E;ENSP00000334153:D389E	ENSP00000334153:D389E	D	-	3	2	RFTN1	16343367	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.446000	0.44908	1.246000	0.43901	0.650000	0.86243	GAC		0.567	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150	
DHX36	170506	hgsc.bcm.edu	37	3	154033942	154033942	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:154033942A>G	ENST00000496811.1	-	2	334	c.254T>C	c.(253-255)gTa>gCa	p.V85A	DHX36_ENST00000308361.6_Missense_Mutation_p.V85A|DHX36_ENST00000329463.5_Missense_Mutation_p.V85A|DHX36_ENST00000544526.1_Missense_Mutation_p.V85A	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	85	RNA-binding; sufficient and required for recruitment to cytoplasmic stress granules.|Sufficient and required for interaction with TERC 5'-end.				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.V85A(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)			ATCCATGTGTACTACAGCTCT	0.348																																					p.V85A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T254C	3						.						121.0	112.0	115.0					3																	154033942		2203	4300	6503	155516636	SO:0001583	missense	170506	exon2			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.254T>C	3.37:g.154033942A>G	ENSP00000417078:p.Val85Ala		155516636	NM_001114397	B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.562744	0.86335	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463	D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.94324	0.8176	L	0.34521	1.04	0.53688	D	0.999975	D;D;D	0.71674	0.998;0.998;0.997	D;D;P	0.70935	0.969;0.971;0.907	D	0.95043	0.8180	10	0.72032	D	0.01	.	15.0994	0.72262	1.0:0.0:0.0:0.0	.	85;85;85	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	A	85	ENSP00000417078:V85A;ENSP00000309296:V85A;ENSP00000444247:V85A;ENSP00000330113:V85A	ENSP00000309296:V85A	V	-	2	0	DHX36	155516636	1.000000	0.71417	0.963000	0.40424	0.988000	0.76386	8.108000	0.89559	2.199000	0.70637	0.519000	0.50382	GTA		0.348	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865	
BCHE	590	hgsc.bcm.edu	37	3	165547594	165547594	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:165547594G>A	ENST00000264381.3	-	2	1394	c.1228C>T	c.(1228-1230)Cct>Tct	p.P410S	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	410					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)	p.P410S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TAGTTTTCAGGTCTCTGATCA	0.403																																					p.P410S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1228T	3						.						76.0	82.0	80.0					3																	165547594		2203	4300	6503	167030288	SO:0001583	missense	590	exon2			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1228C>T	3.37:g.165547594G>A	ENSP00000264381:p.Pro410Ser		167030288	NM_000055	A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	G	9.963	1.223370	0.22457	.	.	ENSG00000114200	ENST00000264381	T	0.64803	-0.12	5.55	3.75	0.43078	Carboxylesterase, type B (1);	0.416540	0.28504	N	0.015103	T	0.49287	0.1548	L	0.33293	1	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.41980	-0.9478	10	0.54805	T	0.06	.	9.9915	0.41874	0.0808:0.1619:0.7573:0.0	.	410	P06276	CHLE_HUMAN	S	410	ENSP00000264381:P410S	ENSP00000264381:P410S	P	-	1	0	BCHE	167030288	0.396000	0.25262	0.989000	0.46669	0.941000	0.58515	1.849000	0.39318	0.685000	0.31468	0.655000	0.94253	CCT		0.403	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1		
GOLIM4	27333	hgsc.bcm.edu	37	3	167728154	167728154	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:167728154C>T	ENST00000470487.1	-	16	2683	c.1994G>A	c.(1993-1995)cGc>cAc	p.R665H	GOLIM4_ENST00000309027.4_Missense_Mutation_p.R637H	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	665	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R665H(1)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCCTTTGGGGCGGTTGTCATC	0.418																																					p.R665H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1994A	3						.						151.0	146.0	148.0					3																	167728154		2203	4300	6503	169210848	SO:0001583	missense	27333	exon16			U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1994G>A	3.37:g.167728154C>T	ENSP00000417354:p.Arg665His		169210848	NM_014498		Missense_Mutation	SNP	ENST00000470487.1	37	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	C	1.619	-0.521995	0.04171	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	4.68	-4.57	0.03421	.	0.829954	0.11272	N	0.581330	T	0.19765	0.0475	N	0.11560	0.145	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.17137	-1.0379	9	0.41790	T	0.15	-0.0037	9.0463	0.36349	0.0:0.1765:0.1278:0.6958	.	637;665	F8W785;O00461	.;GOLI4_HUMAN	H	665;637	.	ENSP00000309893:R637H	R	-	2	0	GOLIM4	169210848	0.001000	0.12720	0.096000	0.21009	0.017000	0.09413	-1.484000	0.02316	-0.636000	0.05524	-0.842000	0.03052	CGC		0.418	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2		
MFN1	55669	hgsc.bcm.edu	37	3	179103381	179103381	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:179103381C>T	ENST00000471841.1	+	15	1813	c.1687C>T	c.(1687-1689)Ccc>Tcc	p.P563S	MFN1_ENST00000280653.7_Missense_Mutation_p.P452S|MFN1_ENST00000263969.5_Missense_Mutation_p.P563S	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	563					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.P563S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AGCTTCTACTCCCACTGCTCC	0.368																																					p.P563S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1687T	3						.						84.0	82.0	82.0					3																	179103381		2203	4300	6503	180586075	SO:0001583	missense	55669	exon15			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.1687C>T	3.37:g.179103381C>T	ENSP00000420617:p.Pro563Ser		180586075	NM_033540	B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912767	0.72983	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000263969;ENST00000474903	D;D;D;D	0.99282	-5.68;-1.91;-5.68;-1.91	5.24	5.24	0.73138	.	0.097598	0.64402	D	0.000001	D	0.98682	0.9558	M	0.76838	2.35	0.31938	N	0.611342	B;B;B	0.24426	0.103;0.064;0.064	B;B;B	0.31751	0.135;0.045;0.045	D	0.99971	1.1994	10	0.27785	T	0.31	-10.1717	18.8335	0.92151	0.0:1.0:0.0:0.0	.	452;591;563	Q8IWA4-3;Q4AEJ4;Q8IWA4	.;.;MFN1_HUMAN	S	563;452;563;315	ENSP00000420617:P563S;ENSP00000280653:P452S;ENSP00000263969:P563S;ENSP00000419926:P315S	ENSP00000263969:P563S	P	+	1	0	MFN1	180586075	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.294000	0.51787	2.436000	0.82500	0.557000	0.71058	CCC		0.368	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927	
GNB4	59345	hgsc.bcm.edu	37	3	179143946	179143946	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:179143946G>A	ENST00000232564.3	-	2	329	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W	GNB4_ENST00000468623.1_Missense_Mutation_p.R15W	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	15					cell death (GO:0008219)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)	p.R15W(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			ATCTGATTCCGCAGTTGTTCT	0.343																																					p.R15W	Melanoma(105;1405 1491 7265 20440 33721)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C43T	3						.						123.0	111.0	115.0					3																	179143946		2203	4300	6503	180626640	SO:0001583	missense	59345	exon2			AF300648	CCDS3230.1	3q27.1	2013-01-10			ENSG00000114450	ENSG00000114450		"""WD repeat domain containing"""	20731	protein-coding gene	gene with protein product		610863				10644457, 11842130	Standard	NM_021629		Approved		uc003fjv.4	Q9HAV0	OTTHUMG00000157440	ENST00000232564.3:c.43C>T	3.37:g.179143946G>A	ENSP00000232564:p.Arg15Trp		180626640	NM_021629	B3KMH5|D3DNR8	Missense_Mutation	SNP	ENST00000232564.3	37	CCDS3230.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114869	0.56505	.	.	ENSG00000114450	ENST00000232564;ENST00000468623;ENST00000497513	T;T;T	0.01359	4.98;4.98;4.98	5.26	4.39	0.52855	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.02767	0.0083	L	0.46157	1.445	0.58432	D	0.999999	D	0.56287	0.975	P	0.46758	0.526	T	0.56553	-0.7960	10	0.87932	D	0	-6.9189	13.4274	0.61032	0.0767:0.0:0.9233:0.0	.	15	Q9HAV0	GBB4_HUMAN	W	15	ENSP00000232564:R15W;ENSP00000419693:R15W;ENSP00000420606:R15W	ENSP00000232564:R15W	R	-	1	2	GNB4	180626640	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	5.644000	0.67902	1.227000	0.43598	0.591000	0.81541	CGG		0.343	GNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258218.1	NM_021629	
USP13	8975	hgsc.bcm.edu	37	3	179462996	179462996	+	Missense_Mutation	SNP	C	C	T	rs554239812	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:179462996C>T	ENST00000263966.3	+	13	2171	c.1700C>T	c.(1699-1701)gCg>gTg	p.A567V	USP13_ENST00000482333.1_Intron|USP13_ENST00000496897.1_Missense_Mutation_p.A502V	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	567	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.A567V(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			GCAAAGTCTGCGGGTGTGAAG	0.522													C|||	7	0.00139776	0.0	0.0	5008	,	,		16042	0.0		0.0	False		,,,				2504	0.0072				p.A567V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1700T	3						.						98.0	98.0	98.0					3																	179462996		2203	4300	6503	180945690	SO:0001583	missense	8975	exon13			U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.1700C>T	3.37:g.179462996C>T	ENSP00000263966:p.Ala567Val		180945690	NM_003940	A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	37	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.924542	0.34002	.	.	ENSG00000058056	ENST00000263966;ENST00000496897;ENST00000497155	T;T;T	0.73681	-0.77;-0.77;-0.77	5.4	4.5	0.54988	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.58119	0.2100	N	0.13352	0.335	0.58432	D	0.999996	B	0.28291	0.206	B	0.28465	0.09	T	0.55604	-0.8115	10	0.21540	T	0.41	-15.7991	15.535	0.75996	0.1385:0.8615:0.0:0.0	.	567	Q92995	UBP13_HUMAN	V	567;502;213	ENSP00000263966:A567V;ENSP00000417146:A502V;ENSP00000420057:A213V	ENSP00000263966:A567V	A	+	2	0	USP13	180945690	0.998000	0.40836	0.994000	0.49952	0.810000	0.45777	3.864000	0.56024	2.530000	0.85305	0.655000	0.94253	GCG		0.522	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1		
SOX2	6657	hgsc.bcm.edu	37	3	181430405	181430405	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:181430405A>G	ENST00000325404.1	+	1	684	c.257A>G	c.(256-258)gAg>gGg	p.E86G	SOX2_ENST00000431565.2_Missense_Mutation_p.E86G	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	86					adenohypophysis development (GO:0021984)|cell cycle arrest (GO:0007050)|cerebral cortex development (GO:0021987)|chromatin organization (GO:0006325)|detection of mechanical stimulus involved in equilibrioception (GO:0050973)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|diencephalon morphogenesis (GO:0048852)|endodermal cell fate specification (GO:0001714)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|eye development (GO:0001654)|forebrain development (GO:0030900)|forebrain neuron differentiation (GO:0021879)|glial cell fate commitment (GO:0021781)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|male genitalia development (GO:0030539)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|osteoblast differentiation (GO:0001649)|pigment biosynthetic process (GO:0046148)|pituitary gland development (GO:0021983)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to growth factor (GO:0070848)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|retina morphogenesis in camera-type eye (GO:0060042)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|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)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.E86G(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			TCGGAGACGGAGAAGCGGCCG	0.622			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																														p.E86G			Dom	yes		3	3q26.3-q27	6657	SRY (sex determining region Y)-box 2	yes	E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A257G	3						.						39.0	43.0	42.0					3																	181430405		2203	4300	6503	182913099	SO:0001583	missense	6657	exon1			BC013923	CCDS3239.1	3q26.3-q27	2014-09-17						"""SRY (sex determining region Y)-boxes"""	11195	protein-coding gene	gene with protein product		184429				7849401	Standard	NM_003106		Approved		uc003fkx.3	P48431		ENST00000325404.1:c.257A>G	3.37:g.181430405A>G	ENSP00000323588:p.Glu86Gly		182913099	NM_003106	Q14537	Missense_Mutation	SNP	ENST00000325404.1	37	CCDS3239.1	.	.	.	.	.	.	.	.	.	.	A	13.36	2.215190	0.39102	.	.	ENSG00000181449	ENST00000431565;ENST00000325404	D;D	0.95821	-3.82;-3.82	5.14	3.95	0.45737	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.055414	0.64402	D	0.000001	D	0.98267	0.9426	H	0.96489	3.83	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.98306	1.0521	10	0.87932	D	0	.	11.5548	0.50741	0.8502:0.1497:0.0:0.0	.	86	P48431	SOX2_HUMAN	G	86	ENSP00000439111:E86G;ENSP00000323588:E86G	ENSP00000323588:E86G	E	+	2	0	SOX2	182913099	1.000000	0.71417	1.000000	0.80357	0.200000	0.23975	9.231000	0.95317	0.859000	0.35456	0.533000	0.62120	GAG		0.622	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350419.1	NM_003106	
ATP11B	23200	hgsc.bcm.edu	37	3	182635852	182635852	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:182635852G>A	ENST00000323116.5	+	30	3754	c.3494G>A	c.(3493-3495)aGc>aAc	p.S1165N		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1165					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.S1165N(1)		breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AACGACAGGAGCATCTTGACT	0.413																																					p.S1165N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3494A	3						.						164.0	149.0	154.0					3																	182635852		2203	4300	6503	184118546	SO:0001583	missense	23200	exon30			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.3494G>A	3.37:g.182635852G>A	ENSP00000321195:p.Ser1165Asn		184118546	NM_014616	Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674799	0.88445	.	.	ENSG00000058063	ENST00000323116	T	0.64085	-0.08	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.78874	0.4352	M	0.65975	2.015	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.78275	-0.2267	10	0.56958	D	0.05	.	20.1001	0.97870	0.0:0.0:1.0:0.0	.	1165	Q9Y2G3	AT11B_HUMAN	N	1165	ENSP00000321195:S1165N	ENSP00000321195:S1165N	S	+	2	0	ATP11B	184118546	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.842000	0.86851	2.760000	0.94817	0.655000	0.94253	AGC		0.413	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616	
PARL	55486	hgsc.bcm.edu	37	3	183551359	183551359	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:183551359C>T	ENST00000317096.4	-	9	1009	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	PARL_ENST00000435888.1_Missense_Mutation_p.A233T|PARL_ENST00000311101.5_Missense_Mutation_p.A267T	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	317					membrane protein proteolysis (GO:0033619)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|proteolysis (GO:0006508)|regulation of protein targeting to mitochondrion (GO:1903214)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.A317T(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTATCCATGGCGATAATGGCT	0.453																																					p.A267T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G799A	3						.						99.0	86.0	90.0					3																	183551359		2203	4300	6503	185034053	SO:0001583	missense	55486	exon8			AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193			18253	protein-coding gene	gene with protein product	"""rhomboid 7 homolog 1 (Drosophila)"""	607858		PSARL			Standard	XM_005247587		Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.949G>A	3.37:g.183551359C>T	ENSP00000325421:p.Ala317Thr		185034053	NM_001037639	Q96CQ4|Q9BTJ6|Q9P1E3	Missense_Mutation	SNP	ENST00000317096.4	37	CCDS3248.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.440649|5.440649	0.96168|0.96168	.|.	.|.	ENSG00000175193|ENSG00000175193	ENST00000317096;ENST00000311101;ENST00000435888|ENST00000417784	T;T;T|.	0.13307|.	2.6;2.6;2.6|.	5.63|5.63	5.63|5.63	0.86233|0.86233	Peptidase S54, rhomboid domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75657|0.75657	0.3879|0.3879	M|M	0.70842|0.70842	2.15|2.15	0.80722|0.80722	D|D	1|1	D;P|.	0.76494|.	0.999;0.954|.	P;P|.	0.62649|.	0.905;0.832|.	T|T	0.73646|0.73646	-0.3917|-0.3917	10|5	0.52906|.	T|.	0.07|.	-15.8145|-15.8145	18.2244|18.2244	0.89913|0.89913	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	267;317|.	Q9H300-2;Q9H300|.	.;PARL_HUMAN|.	T|H	317;267;233|108	ENSP00000325421:A317T;ENSP00000310676:A267T;ENSP00000402137:A233T|.	ENSP00000310676:A267T|.	A|R	-|-	1|2	0|0	PARL|PARL	185034053|185034053	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.815000|7.815000	0.86186|0.86186	2.814000|2.814000	0.96858|0.96858	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.453	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346465.1	NM_018622	
RTP1	132112	hgsc.bcm.edu	37	3	186915496	186915496	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:186915496C>A	ENST00000312295.4	+	1	223	c.193C>A	c.(193-195)Ctc>Atc	p.L65I	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	65					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)	p.L65I(1)		breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CAGCTGGGACCTCATCATAGA	0.527																																					p.L65I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C193A	3						.						128.0	112.0	117.0					3																	186915496		2203	4300	6503	188398190	SO:0001583	missense	132112	exon1			BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"""Receptor transporter proteins"""	28580	protein-coding gene	gene with protein product	"""receptor transporting protein 1"", ""zinc finger, 3CxxC-type 1"""	609137	"""receptor transporter protein 1"""			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.193C>A	3.37:g.186915496C>A	ENSP00000311712:p.Leu65Ile		188398190	NM_153708		Missense_Mutation	SNP	ENST00000312295.4	37	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695243	0.48202	.	.	ENSG00000175077	ENST00000312295	T	0.34072	1.38	5.69	3.88	0.44766	.	0.245803	0.35096	N	0.003449	T	0.32793	0.0841	L	0.58510	1.815	0.23712	N	0.997043	P	0.36144	0.539	B	0.35971	0.215	T	0.21793	-1.0235	10	0.51188	T	0.08	.	8.4068	0.32619	0.0:0.8383:0.0:0.1617	.	65	P59025	RTP1_HUMAN	I	65	ENSP00000311712:L65I	ENSP00000311712:L65I	L	+	1	0	RTP1	188398190	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.701000	0.37825	0.751000	0.32900	0.655000	0.94253	CTC		0.527	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708	
MASP1	5648	hgsc.bcm.edu	37	3	186954083	186954083	+	Intron	SNP	G	G	A	rs377074720		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:186954083G>A	ENST00000337774.5	-	10	1693				MASP1_ENST00000296280.6_Nonsense_Mutation_p.R526*|MASP1_ENST00000392472.2_Nonsense_Mutation_p.R413*|MASP1_ENST00000495249.1_5'UTR	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.R526*(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GATTTGTCTCGCACATCATGC	0.562																																					p.R526X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1576T	3						.	G	,stop/ARG	0,4406		0,0,2203	97.0	84.0	88.0		,1576	4.1	0.9	3		88	1,8599	1.2+/-3.3	0,1,4299	no	intron,stop-gained	MASP1	NM_001879.5,NM_139125.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,526/729	186954083	1,13005	2203	4300	6503	188436777	SO:0001627	intron_variant	5648	exon11			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1303+5185C>T	3.37:g.186954083G>A			188436777	NM_139125	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Nonsense_Mutation	SNP	ENST00000337774.5	37	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	G	36	5.857637	0.97030	0.0	1.16E-4	ENSG00000127241	ENST00000296280;ENST00000392472;ENST00000541896	.	.	.	5.96	4.12	0.48240	.	0.114507	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0274	0.64594	0.0:0.0:0.5878:0.4122	.	.	.	.	X	526;413;413	.	ENSP00000296280:R526X	R	-	1	2	MASP1	188436777	0.967000	0.33354	0.925000	0.36789	0.033000	0.12548	1.106000	0.31098	0.800000	0.34041	-0.181000	0.13052	CGA		0.562	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879	
MASP1	5648	hgsc.bcm.edu	37	3	186978605	186978605	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:186978605G>A	ENST00000337774.5	-	4	860	c.471C>T	c.(469-471)tgC>tgT	p.C157C	MASP1_ENST00000392470.2_Silent_p.C131C|MASP1_ENST00000296280.6_Silent_p.C157C|MASP1_ENST00000169293.6_Silent_p.C157C|MASP1_ENST00000392472.2_Silent_p.C44C|MASP1_ENST00000495249.1_Intron	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	157	EGF-like; calcium-binding.|Homodimerization. {ECO:0000250}.|Interaction with FCN2.|Interaction with MBL2.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.C157*(3)|p.C157C(2)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TGTAGTTGTGGCAGTAGTGGT	0.537																																					p.C157C												.	.	5	Substitution - Nonsense(3)|Substitution - coding silent(2)	lung(3)|large_intestine(2)	c.C471T	3						.						178.0	128.0	145.0					3																	186978605		2203	4300	6503	188461299	SO:0001819	synonymous_variant	5648	exon4			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.471C>T	3.37:g.186978605G>A			188461299	NM_001031849	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	ENST00000337774.5	37	CCDS33907.1																																																																																				0.537	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879	
TPRG1	285386	hgsc.bcm.edu	37	3	188925289	188925289	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:188925289G>T	ENST00000345063.3	+	2	283	c.116G>T	c.(115-117)aGa>aTa	p.R39I	TPRG1_ENST00000433971.1_Missense_Mutation_p.R39I	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	39						cytoplasm (GO:0005737)		p.R39I(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CCGATGCCAAGACAGATTTCA	0.473																																					p.R39I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G116T	3						.						213.0	184.0	194.0					3																	188925289		2203	4300	6503	190407983	SO:0001583	missense	285386	exon2			AK125682	CCDS3292.1	3q28	2008-02-04	2008-01-16	2008-01-16	ENSG00000188001	ENSG00000188001			24759	protein-coding gene	gene with protein product			"""family with sequence similarity 79, member B"""	FAM79B			Standard	NM_198485		Approved	FLJ41238, FLJ43694	uc003frw.2	Q6ZUI0	OTTHUMG00000156321	ENST00000345063.3:c.116G>T	3.37:g.188925289G>T	ENSP00000341031:p.Arg39Ile		190407983	NM_198485		Missense_Mutation	SNP	ENST00000345063.3	37	CCDS3292.1	.	.	.	.	.	.	.	.	.	.	G	7.355	0.623581	0.14193	.	.	ENSG00000188001	ENST00000433971;ENST00000412373;ENST00000345063;ENST00000456832	.	.	.	6.17	-4.04	0.04010	.	0.878251	0.10499	N	0.667428	T	0.23727	0.0574	N	0.24115	0.695	0.09310	N	1	B	0.16802	0.019	B	0.14023	0.01	T	0.18967	-1.0320	9	0.37606	T	0.19	-2.9258	7.7703	0.29004	0.5979:0.0:0.2766:0.1255	.	39	Q6ZUI0	TPRG1_HUMAN	I	39	.	ENSP00000341031:R39I	R	+	2	0	TPRG1	190407983	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-0.053000	0.11846	-0.608000	0.05731	-0.136000	0.14681	AGA		0.473	TPRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343931.1	NM_198485	
TP63	8626	hgsc.bcm.edu	37	3	189526151	189526151	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:189526151G>A	ENST00000264731.3	+	4	504	c.415G>A	c.(415-417)Gcg>Acg	p.A139T	TP63_ENST00000456148.1_Missense_Mutation_p.A45T|TP63_ENST00000382063.4_Intron|TP63_ENST00000418709.2_Missense_Mutation_p.A139T|TP63_ENST00000392461.3_Missense_Mutation_p.A45T|TP63_ENST00000354600.5_Missense_Mutation_p.A45T|TP63_ENST00000449992.1_Intron|TP63_ENST00000437221.1_Missense_Mutation_p.A45T|TP63_ENST00000392463.2_Missense_Mutation_p.A45T|TP63_ENST00000392460.3_Missense_Mutation_p.A139T|TP63_ENST00000320472.5_Missense_Mutation_p.A139T|TP63_ENST00000440651.2_Missense_Mutation_p.A139T	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	139					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|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 factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)	p.A139T(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CACAGACCACGCGCAGAACAG	0.617										HNSCC(45;0.13)																											p.A45T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G133A	3						.						184.0	137.0	153.0					3																	189526151		2203	4300	6503	191008845	SO:0001583	missense	8626	exon2			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.415G>A	3.37:g.189526151G>A	ENSP00000264731:p.Ala139Thr		191008845	NM_001114980	O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	31	5.101418	0.94245	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000354600;ENST00000434928;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000456148	D;D;D;D;D;D;T;D;D;D;D	0.99751	-6.38;-6.63;-6.62;-6.62;-6.41;-6.31;-1.05;-6.5;-6.52;-6.5;-6.34	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.98836	0.9607	N	0.12961	0.28	0.80722	D	1	D;D;P;P;P;P;D;P;D	0.59767	0.986;0.986;0.921;0.809;0.809;0.71;0.986;0.955;0.986	P;P;B;B;B;B;P;B;P	0.47705	0.555;0.555;0.401;0.293;0.293;0.053;0.555;0.353;0.555	D	0.99478	1.0947	9	.	.	.	-3.5143	19.122	0.93367	0.0:0.0:1.0:0.0	.	139;139;45;45;45;45;139;139;139	Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;P63_HUMAN;.	T	139;139;139;139;139;45;45;45;45;45;45	ENSP00000264731:A139T;ENSP00000407144:A139T;ENSP00000317510:A139T;ENSP00000376253:A139T;ENSP00000394337:A139T;ENSP00000346614:A45T;ENSP00000401661:A45T;ENSP00000392488:A45T;ENSP00000376256:A45T;ENSP00000376254:A45T;ENSP00000389485:A45T	.	A	+	1	0	TP63	191008845	1.000000	0.71417	0.933000	0.37362	0.991000	0.79684	7.650000	0.83521	2.770000	0.95276	0.655000	0.94253	GCG		0.617	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722	
TMEM207	131920	hgsc.bcm.edu	37	3	190167563	190167563	+	Silent	SNP	C	C	T	rs114031396		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:190167563C>T	ENST00000354905.2	-	1	102	c.36G>A	c.(34-36)gcG>gcA	p.A12A		NM_207316.1	NP_997199.1	Q6UWW9	TM207_HUMAN	transmembrane protein 207	12						integral component of membrane (GO:0016021)		p.A12A(1)		endometrium(1)|large_intestine(2)|lung(4)	7	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		TCGTTGAGATCGCTGAGGTGA	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		20834	0.0		0.001	False		,,,				2504	0.0				p.A12A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G36A	3						.	C		3,4403	6.2+/-15.9	0,3,2200	172.0	149.0	157.0		36	3.5	0.3	3	dbSNP_133	157	0,8600		0,0,4300	no	coding-synonymous	TMEM207	NM_207316.1		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		12/147	190167563	3,13003	2203	4300	6503	191650257	SO:0001819	synonymous_variant	131920	exon1			BC071780	CCDS3297.1	3q28	2008-02-18			ENSG00000198398	ENSG00000198398			33705	protein-coding gene	gene with protein product		614786					Standard	NM_207316		Approved		uc003fsj.2	Q6UWW9	OTTHUMG00000156213	ENST00000354905.2:c.36G>A	3.37:g.190167563C>T			191650257	NM_207316		Silent	SNP	ENST00000354905.2	37	CCDS3297.1																																																																																				0.423	TMEM207-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343515.1	NM_207316	
PCYT1A	5130	hgsc.bcm.edu	37	3	195974268	195974268	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:195974268C>T	ENST00000292823.2	-	6	628	c.456G>A	c.(454-456)acG>acA	p.T152T	PCYT1A_ENST00000491544.1_5'Flank|PCYT1A_ENST00000419333.1_Silent_p.T152T|PCYT1A_ENST00000431016.1_Silent_p.T152T	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	152					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.T152T(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)	CGGGTGTCAGCGTCCAGGGCG	0.542																																					p.T152T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G456A	3						.						201.0	174.0	183.0					3																	195974268		2203	4300	6503	197458665	SO:0001819	synonymous_variant	5130	exon6			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.456G>A	3.37:g.195974268C>T			197458665	NM_005017	A9LYK9|D3DXB1|Q86Y88	Silent	SNP	ENST00000292823.2	37	CCDS3315.1																																																																																				0.542	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	NM_005017	
CNTN4	152330	hgsc.bcm.edu	37	3	3095580	3095580	+	Silent	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:3095580T>C	ENST00000397461.1	+	23	3285	c.2901T>C	c.(2899-2901)gaT>gaC	p.D967D	CNTN4_ENST00000397459.2_Silent_p.D639D|CNTN4_ENST00000418658.1_Silent_p.D967D|CNTN4_ENST00000358480.3_Silent_p.D748D|CNTN4_ENST00000427331.1_Silent_p.D967D|CNTN4_ENST00000448906.2_Silent_p.D639D|CNTN4-AS1_ENST00000442749.2_RNA	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	967	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.D967D(1)|p.D639D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCGATGAAGATTATATAATAG	0.393																																					p.D639D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T1917C	3						.						92.0	102.0	99.0					3																	3095580		2203	4300	6503	3070580	SO:0001819	synonymous_variant	152330	exon15			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2901T>C	3.37:g.3095580T>C			3070580	NM_175613	B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	CCDS43041.1																																																																																				0.393	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2		
LRRN1	57633	hgsc.bcm.edu	37	3	3887242	3887242	+	Missense_Mutation	SNP	A	A	G	rs375411802		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:3887242A>G	ENST00000319331.3	+	2	1678	c.917A>G	c.(916-918)tAt>tGt	p.Y306C	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	306						integral component of membrane (GO:0016021)		p.Y306C(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)		GTCGACCGCTATGCCCTGGAT	0.473																																					p.Y306C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A917G	3						.	A	CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	64.0	67.0	66.0		917	5.6	1.0	3		66	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRRN1	NM_020873.5	194	0,2,6501	GG,GA,AA		0.0116,0.0227,0.0154	possibly-damaging	306/717	3887242	2,13004	2203	4300	6503	3862242	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.917A>G	3.37:g.3887242A>G	ENSP00000314901:p.Tyr306Cys		3862242	NM_020873	Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	A	15.45	2.837818	0.50951	2.27E-4	1.16E-4	ENSG00000175928	ENST00000319331	T	0.56275	0.47	5.59	5.59	0.84812	.	0.119106	0.64402	D	0.000015	T	0.57169	0.2035	M	0.65975	2.015	0.37528	D	0.917807	D	0.54047	0.964	P	0.46049	0.502	T	0.64774	-0.6328	10	0.39692	T	0.17	.	15.7653	0.78120	1.0:0.0:0.0:0.0	.	306	Q6UXK5	LRRN1_HUMAN	C	306	ENSP00000314901:Y306C	ENSP00000314901:Y306C	Y	+	2	0	LRRN1	3862242	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	4.769000	0.62300	2.112000	0.64535	0.528000	0.53228	TAT		0.473	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873	
BRPF1	7862	hgsc.bcm.edu	37	3	9788984	9788984	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:9788984G>A	ENST00000457855.1	+	13	3607	c.3596G>A	c.(3595-3597)cGc>cAc	p.R1199H	OGG1_ENST00000302036.7_5'Flank|OGG1_ENST00000302003.7_5'Flank|BRPF1_ENST00000424362.1_Missense_Mutation_p.R1198H|OGG1_ENST00000302008.8_5'Flank|BRPF1_ENST00000302054.3_Missense_Mutation_p.R1199H|OGG1_ENST00000339511.5_5'Flank|OGG1_ENST00000349503.5_5'Flank|OGG1_ENST00000449570.2_5'Flank|BRPF1_ENST00000383829.2_Missense_Mutation_p.R1205H|OGG1_ENST00000383826.5_5'Flank|OGG1_ENST00000344629.7_5'Flank|BRPF1_ENST00000433861.2_Missense_Mutation_p.R1104H			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	1199					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R1205H(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CTGCAGCACCGCAGCAAGGTG	0.567																																					p.R1199H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3596A	3						.						139.0	113.0	122.0					3																	9788984		2203	4300	6503	9763984	SO:0001583	missense	7862	exon14			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.3596G>A	3.37:g.9788984G>A	ENSP00000410210:p.Arg1199His		9763984	NM_004634	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946084	0.92593	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.18960	2.18;2.22;3.61;2.2;2.2	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.41534	0.1163	L	0.48642	1.525	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.998	D;P;P;P	0.74674	0.984;0.702;0.702;0.693	T	0.05903	-1.0857	10	0.44086	T	0.13	.	18.946	0.92622	0.0:0.0:1.0:0.0	.	1104;1198;1205;1199	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	H	1104;1198;1205;1199;1199	ENSP00000402485:R1104H;ENSP00000398863:R1198H;ENSP00000373340:R1205H;ENSP00000306297:R1199H;ENSP00000410210:R1199H	ENSP00000306297:R1199H	R	+	2	0	BRPF1	9763984	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.898000	0.87363	2.577000	0.86979	0.462000	0.41574	CGC		0.567	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694	
KAT2B	8850	hgsc.bcm.edu	37	3	20113890	20113890	+	Silent	SNP	C	C	T	rs201922668		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:20113890C>T	ENST00000263754.4	+	2	824	c.369C>T	c.(367-369)gcC>gcT	p.A123A	KAT2B_ENST00000426228.1_3'UTR	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	123					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.A123A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CCCCCAGAGCCGACCTGCAGC	0.433																																					p.A123A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C369T	3						.						105.0	115.0	112.0					3																	20113890		2203	4300	6503	20088894	SO:0001819	synonymous_variant	8850	exon2			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.369C>T	3.37:g.20113890C>T			20088894	NM_003884	Q6NSK1	Silent	SNP	ENST00000263754.4	37	CCDS2634.1																																																																																				0.433	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884	
RARB	5915	hgsc.bcm.edu	37	3	25470238	25470238	+	Intron	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:25470238G>A	ENST00000404969.1	+	2	178				RARB_ENST00000437042.2_Intron|RARB_ENST00000330688.4_Missense_Mutation_p.D6N|RARB_ENST00000462272.1_3'UTR			P10826	RARB_HUMAN	retinoic acid receptor, beta						embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.D6N(1)		breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TGACTGTATGGATGTTCTGTC	0.483																																					p.D6N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G16A	3						.						236.0	198.0	210.0					3																	25470238		2203	4300	6503	25445242	SO:0001627	intron_variant	5915	exon1			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.179-32446G>A	3.37:g.25470238G>A			25445242	NM_000965	P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	37		.	.	.	.	.	.	.	.	.	.	G	23.5	4.423479	0.83559	.	.	ENSG00000077092	ENST00000330688	D	0.92348	-3.02	5.71	5.71	0.89125	.	0.760118	0.12182	N	0.492049	D	0.92355	0.7574	L	0.38175	1.15	0.80722	D	1	P	0.42203	0.773	P	0.48627	0.584	D	0.90519	0.4487	10	0.46703	T	0.11	.	19.855	0.96755	0.0:0.0:1.0:0.0	.	6	F1D8S6	.	N	6	ENSP00000332296:D6N	ENSP00000332296:D6N	D	+	1	0	RARB	25445242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.983000	0.93477	2.691000	0.91804	0.561000	0.74099	GAT		0.483	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152	
GOLGA4	2803	hgsc.bcm.edu	37	3	37388775	37388775	+	Silent	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:37388775T>C	ENST00000361924.2	+	21	6938	c.6564T>C	c.(6562-6564)ggT>ggC	p.G2188G	GOLGA4_ENST00000356847.4_Silent_p.G2203G|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2188	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.G2188G(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATATGATGGGTCGTGAGACTA	0.368																																					p.G2203G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T6609C	3						.						111.0	105.0	107.0					3																	37388775		2203	4300	6503	37363779	SO:0001819	synonymous_variant	2803	exon21			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.6564T>C	3.37:g.37388775T>C			37363779	NM_001172713	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Silent	SNP	ENST00000361924.2	37	CCDS2666.1																																																																																				0.368	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078	
ITGA9	3680	hgsc.bcm.edu	37	3	37560794	37560794	+	Silent	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:37560794G>T	ENST00000264741.5	+	11	1441	c.1185G>T	c.(1183-1185)gcG>gcT	p.A395A	ITGA9_ENST00000422441.1_Silent_p.A395A	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	395					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.A395A(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TCGCAGGGGCGGTCTATATCT	0.448																																					p.A395A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1185T	3						.						151.0	130.0	137.0					3																	37560794		2203	4300	6503	37535798	SO:0001819	synonymous_variant	3680	exon11			L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.1185G>T	3.37:g.37560794G>T			37535798	NM_002207	Q14638	Silent	SNP	ENST00000264741.5	37	CCDS2669.1																																																																																				0.448	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207	
SCN10A	6336	hgsc.bcm.edu	37	3	38750977	38750977	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:38750977T>C	ENST00000449082.2	-	24	4272	c.4273A>G	c.(4273-4275)Aaa>Gaa	p.K1425E		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1425					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.K1425E(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	ATCTTTTTTTTCTGTTGATTG	0.418																																					p.K1425E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4273G	3						.						104.0	104.0	104.0					3																	38750977		2203	4300	6503	38725981	SO:0001583	missense	6336	exon24			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4273A>G	3.37:g.38750977T>C	ENSP00000390600:p.Lys1425Glu		38725981	NM_006514	A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.791142	0.90367	.	.	ENSG00000185313	ENST00000449082	D	0.97430	-4.38	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.98969	0.9649	H	0.96662	3.86	0.51233	D	0.999917	D	0.71674	0.998	D	0.77557	0.99	D	0.99418	1.0932	10	0.62326	D	0.03	.	15.2655	0.73657	0.0:0.0:0.0:1.0	.	1425	Q9Y5Y9	SCNAA_HUMAN	E	1425	ENSP00000390600:K1425E	ENSP00000390600:K1425E	K	-	1	0	SCN10A	38725981	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.868000	0.87116	2.199000	0.70637	0.533000	0.62120	AAA		0.418	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
SCN10A	6336	hgsc.bcm.edu	37	3	38770207	38770207	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:38770207C>T	ENST00000449082.2	-	15	2465	c.2466G>A	c.(2464-2466)gcG>gcA	p.A822A		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	822					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.A822A(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CTTCATGGGGCGCGGAGATAT	0.512																																					p.A822A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2466A	3						.						119.0	117.0	118.0					3																	38770207		2203	4300	6503	38745211	SO:0001819	synonymous_variant	6336	exon15			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2466G>A	3.37:g.38770207C>T			38745211	NM_006514	A6NDQ1	Silent	SNP	ENST00000449082.2	37	CCDS33736.1																																																																																				0.512	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
WDR48	57599	hgsc.bcm.edu	37	3	39133187	39133187	+	Missense_Mutation	SNP	A	A	T	rs371373982		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:39133187A>T	ENST00000302313.5	+	17	1768	c.1740A>T	c.(1738-1740)ttA>ttT	p.L580F	WDR48_ENST00000544962.1_Missense_Mutation_p.L305F|WDR48_ENST00000418020.1_Missense_Mutation_p.L22F|WDR48_ENST00000466405.1_3'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.L498F	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	580					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)		p.L580F(1)		breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CAAAAACCTTAAAAAAGTAAG	0.303																																					p.L580F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1740T	3						.	A	PHE/LEU	1,4403	2.1+/-5.4	0,1,2201	38.0	39.0	39.0		1740	3.4	1.0	3		39	0,8594		0,0,4297	no	missense	WDR48	NM_020839.2	22	0,1,6498	TT,TA,AA		0.0,0.0227,0.0077	possibly-damaging	580/678	39133187	1,12997	2202	4297	6499	39108191	SO:0001583	missense	57599	exon17			AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"""WD repeat domain containing"""	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.1740A>T	3.37:g.39133187A>T	ENSP00000307491:p.Leu580Phe		39108191	NM_020839	B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	ENST00000302313.5	37	CCDS33738.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.974987	0.74360	2.27E-4	0.0	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258;ENST00000418020	T;D;T	0.90788	0.89;-2.73;0.61	5.81	3.38	0.38709	.	0.000000	0.64402	D	0.000001	D	0.93278	0.7858	M	0.71581	2.175	0.58432	D	0.999996	D;D;D;D	0.69078	0.997;0.981;0.976;0.991	D;P;P;P	0.75484	0.986;0.841;0.841;0.902	D	0.91805	0.5455	10	0.51188	T	0.08	-9.7009	7.6633	0.28415	0.7508:0.0:0.2492:0.0	.	305;498;571;580	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	F	580;305;498;22	ENSP00000307491:L580F;ENSP00000445187:L305F;ENSP00000379557:L498F	ENSP00000307491:L580F	L	+	3	2	WDR48	39108191	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.965000	0.29319	0.965000	0.38133	0.533000	0.62120	TTA		0.303	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	NM_020839	
CSRNP1	64651	hgsc.bcm.edu	37	3	39185877	39185877	+	Silent	SNP	G	G	A	rs562658217		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:39185877G>A	ENST00000273153.5	-	4	708	c.531C>T	c.(529-531)gaC>gaT	p.D177D	CSRNP1_ENST00000514182.1_Silent_p.D177D	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	177					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	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)	p.D177D(1)		central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CCACAGAGGCGTCATCAATGG	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		18392	0.0		0.0	False		,,,				2504	0.001				p.D177D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C531T	3						.						53.0	49.0	51.0					3																	39185877		2203	4300	6503	39160881	SO:0001819	synonymous_variant	64651	exon4			AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"""AXIN1 up-regulated 1"""	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.531C>T	3.37:g.39185877G>A			39160881	NM_033027	Q69YY5	Silent	SNP	ENST00000273153.5	37	CCDS2682.1																																																																																				0.617	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027	
XIRP1	165904	hgsc.bcm.edu	37	3	39228220	39228220	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:39228220G>A	ENST00000340369.3	-	2	2945	c.2717C>T	c.(2716-2718)gCa>gTa	p.A906V	XIRP1_ENST00000396251.1_Missense_Mutation_p.A906V|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	906					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.A906V(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGCAGTCAGTGCGACCAGGCC	0.612																																					p.A906V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2717T	3						.						33.0	32.0	32.0					3																	39228220		2203	4300	6503	39203224	SO:0001583	missense	165904	exon2			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.2717C>T	3.37:g.39228220G>A	ENSP00000343140:p.Ala906Val		39203224	NM_194293	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	7.843	0.722241	0.15372	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.05139	3.49;3.9	5.03	4.1	0.47936	.	0.578130	0.18015	N	0.154422	T	0.06735	0.0172	L	0.44542	1.39	0.09310	N	0.999999	P;B	0.34522	0.455;0.302	B;B	0.34346	0.18;0.08	T	0.22382	-1.0218	10	0.46703	T	0.11	.	9.1267	0.36818	0.0:0.1558:0.6842:0.16	.	906;906	Q702N8;Q702N8-2	XIRP1_HUMAN;.	V	906	ENSP00000379550:A906V;ENSP00000343140:A906V	ENSP00000343140:A906V	A	-	2	0	XIRP1	39203224	0.000000	0.05858	0.082000	0.20525	0.188000	0.23474	0.746000	0.26275	2.529000	0.85273	0.655000	0.94253	GCA		0.612	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522	
ZDHHC3	51304	hgsc.bcm.edu	37	3	44968226	44968226	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:44968226G>A	ENST00000424952.2	-	7	1123	c.855C>T	c.(853-855)gcC>gcT	p.A285A	ZDHHC3_ENST00000296127.3_Silent_p.A313A|ZDHHC3_ENST00000342790.4_Silent_p.A319A	NM_001135179.1	NP_001128651.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	285					protein palmitoylation (GO:0018345)|protein targeting (GO:0006605)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.A313A(1)		endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		GGTCTGGCGTGGCAAAGGGGC	0.537																																					p.A285A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C855T	3						.						96.0	85.0	89.0					3																	44968226		2203	4300	6503	44943230	SO:0001819	synonymous_variant	51304	exon7			AF247703	CCDS2724.1, CCDS46811.1	3p21.31	2010-02-09			ENSG00000163812	ENSG00000163812		"""Zinc fingers, DHHC-type"""	18470	protein-coding gene	gene with protein product	"""golgi-specific DHHC Zinc Finger Protein"""					19955568	Standard	NM_016598		Approved	ZNF373, GODZ	uc003cod.3	Q9NYG2	OTTHUMG00000133093	ENST00000424952.2:c.855C>T	3.37:g.44968226G>A			44943230	NM_001135179	Q53A17|Q96BL0	Silent	SNP	ENST00000424952.2	37	CCDS46811.1																																																																																				0.537	ZDHHC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347004.1	NM_016598	
FYCO1	79443	hgsc.bcm.edu	37	3	46014625	46014625	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:46014625G>A	ENST00000296137.2	-	6	699	c.494C>T	c.(493-495)gCg>gTg	p.A165V	FYCO1_ENST00000535325.1_Missense_Mutation_p.A165V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	165	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)	p.A165V(1)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCCCCTCGACGCCAGGTCAAA	0.483																																					p.A165V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C494T	3						.						100.0	95.0	96.0					3																	46014625		2203	4300	6503	45989629	SO:0001583	missense	79443	exon6			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.494C>T	3.37:g.46014625G>A	ENSP00000296137:p.Ala165Val		45989629	NM_024513	B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314797	0.81358	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.32272	1.46;1.46	6.08	5.21	0.72293	RUN (2);	0.052491	0.85682	N	0.000000	T	0.31040	0.0784	L	0.50333	1.59	0.58432	D	0.99999	P;P	0.42039	0.688;0.769	B;B	0.39562	0.19;0.303	T	0.12553	-1.0543	10	0.87932	D	0	-9.0807	13.7199	0.62720	0.0708:0.0:0.9292:0.0	.	165;165	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	V	165	ENSP00000296137:A165V;ENSP00000441178:A165V	ENSP00000296137:A165V	A	-	2	0	FYCO1	45989629	1.000000	0.71417	0.866000	0.34008	0.968000	0.65278	5.487000	0.66863	1.587000	0.49959	0.655000	0.94253	GCG		0.483	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513	
DHX30	22907	hgsc.bcm.edu	37	3	47889961	47889961	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:47889961G>A	ENST00000445061.1	+	16	2903	c.2496G>A	c.(2494-2496)gcG>gcA	p.A832A	DHX30_ENST00000348968.4_Silent_p.A804A|DHX30_ENST00000457607.1_Silent_p.A860A|DHX30_ENST00000446256.2_Silent_p.A793A|MIR1226_ENST00000408658.1_RNA	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	832						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.A832A(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGTCATAGGCGGTGGAGTTCC	0.652																																					p.A832A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2496A	3						.						77.0	80.0	79.0					3																	47889961		2203	4300	6503	47864965	SO:0001819	synonymous_variant	22907	exon16			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.2496G>A	3.37:g.47889961G>A			47864965	NM_138615	A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Silent	SNP	ENST00000445061.1	37	CCDS2759.1																																																																																				0.652	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615	
NME6	10201	hgsc.bcm.edu	37	3	48336714	48336714	+	Missense_Mutation	SNP	C	C	T	rs538239861		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:48336714C>T	ENST00000452211.1	-	6	482	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	NME6_ENST00000442597.1_Missense_Mutation_p.R82Q|ZNF589_ENST00000412564.1_Intron|NME6_ENST00000426723.1_Intron|NME6_ENST00000450160.1_Missense_Mutation_p.E69K|NME6_ENST00000435684.1_Missense_Mutation_p.E69K|NME6_ENST00000426689.2_Missense_Mutation_p.R82Q|NME6_ENST00000451657.1_Missense_Mutation_p.E69K|NME6_ENST00000415644.1_Intron|NME6_ENST00000415053.1_Missense_Mutation_p.R82Q|NME6_ENST00000421967.1_Missense_Mutation_p.R90Q|NME6_ENST00000447314.1_Missense_Mutation_p.R37Q|NME6_ENST00000444069.1_5'UTR			O75414	NDK6_HUMAN	NME/NM23 nucleoside diphosphate kinase 6	82					apoptotic process (GO:0006915)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|negative regulation of cell growth (GO:0030308)|negative regulation of mitosis (GO:0045839)|UTP biosynthetic process (GO:0006228)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)	p.R90Q(1)		breast(1)|large_intestine(5)	6				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GATGTAGGCTCGGATTGGCCC	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		16941	0.0		0.0	False		,,,				2504	0.001				p.R90Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G269A	3						.						46.0	40.0	42.0					3																	48336714		2203	4300	6503	48311718	SO:0001583	missense	10201	exon5			AF051941	CCDS2763.1	3p21.31	2012-05-18	2012-05-18		ENSG00000172113	ENSG00000172113			20567	protein-coding gene	gene with protein product		608294	"""non-metastatic cells 6, protein expressed in (nucleoside-diphosphate kinase)"""			10453732, 19852809	Standard	NM_005793		Approved	NM23-H6, IPIA-ALPHA	uc003cso.3	O75414	OTTHUMG00000133531	ENST00000452211.1:c.245G>A	3.37:g.48336714C>T	ENSP00000392352:p.Arg82Gln		48311718	NM_005793	B4DGW7|B4DM99|Q53HM5|Q96E73|Q9BQ63	Missense_Mutation	SNP	ENST00000452211.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.179960|4.179960	0.78564|0.78564	.|.	.|.	ENSG00000172113|ENSG00000172113	ENST00000450160;ENST00000451657;ENST00000435684|ENST00000421967;ENST00000426689;ENST00000452211;ENST00000415053;ENST00000442597;ENST00000447314;ENST00000425930;ENST00000456495	.|T;T;T;T;T;T;T;T	.|0.54279	.|0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	4.66|4.66	4.66|4.66	0.58398|0.58398	.|.	.|0.127403	.|0.53938	.|D	.|0.000055	T|T	0.44159|0.44159	0.1280|0.1280	L|L	0.37507|0.37507	1.11|1.11	0.25270|0.25270	N|N	0.989529|0.989529	D|P;B	0.58268|0.35700	0.982|0.516;0.118	P|B;B	0.46237|0.41619	0.508|0.361;0.066	T|T	0.32824|0.32824	-0.9892|-0.9892	8|10	0.72032|0.29301	D|T	0.01|0.29	-1.6691|-1.6691	8.918|8.918	0.35594|0.35594	0.0:0.9007:0.0:0.0993|0.0:0.9007:0.0:0.0993	.|.	69|82;82	O75414-3|O75414;C9J9V6	.|NDK6_HUMAN;.	K|Q	69|90;82;82;82;82;37;82;82	.|ENSP00000416658:R90Q;ENSP00000440286:R82Q;ENSP00000392352:R82Q;ENSP00000399582:R82Q;ENSP00000406642:R82Q;ENSP00000414842:R37Q;ENSP00000411116:R82Q;ENSP00000392715:R82Q	ENSP00000393261:E69K|ENSP00000399582:R82Q	E|R	-|-	1|2	0|0	NME6|NME6	48311718|48311718	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	4.504000|4.504000	0.60414|0.60414	2.593000|2.593000	0.87608|0.87608	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.542	NME6-005	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000346107.1	NM_005793	
NDUFAF3	25915	hgsc.bcm.edu	37	3	49060164	49060164	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:49060164C>G	ENST00000326925.6	+	3	1434	c.300C>G	c.(298-300)gaC>gaG	p.D100E	DALRD3_ENST00000496568.1_5'Flank|MIR191_ENST00000384873.1_RNA|MIR425_ENST00000362162.1_RNA|NDUFAF3_ENST00000451378.2_Missense_Mutation_p.D43E|NDUFAF3_ENST00000326912.4_Missense_Mutation_p.D43E|DALRD3_ENST00000440857.1_5'Flank|NDUFAF3_ENST00000395458.2_Missense_Mutation_p.D43E|DALRD3_ENST00000313778.5_5'Flank	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	100					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)		p.D100E(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						TCACCGAAGACAGCTTTTCCC	0.592																																					p.D100E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C300G	3						.						171.0	175.0	174.0					3																	49060164		2203	4300	6503	49035168	SO:0001583	missense	25915	exon3				CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"""Mitochondrial respiratory chain complex assembly factors"""	29918	protein-coding gene	gene with protein product		612911	"""chromosome 3 open reading frame 60"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"""	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773	ENST00000326925.6:c.300C>G	3.37:g.49060164C>G	ENSP00000323076:p.Asp100Glu		49035168	NM_199069		Missense_Mutation	SNP	ENST00000326925.6	37	CCDS2784.1	.	.	.	.	.	.	.	.	.	.	G	7.873	0.728590	0.15507	.	.	ENSG00000178057	ENST00000326912;ENST00000326925;ENST00000395458;ENST00000451378	T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72	5.47	1.21	0.21127	.	0.046610	0.85682	N	0.000000	T	0.24509	0.0594	N	0.00298	-1.69	0.18873	N	0.999983	B	0.02656	0.0	B	0.04013	0.001	T	0.42916	-0.9423	10	0.02654	T	1	-7.6053	5.676	0.17749	0.2449:0.2615:0.4935:0.0	.	100	Q9BU61	NDUF3_HUMAN	E	43;100;43;43	ENSP00000323003:D43E;ENSP00000323076:D100E;ENSP00000378843:D43E;ENSP00000402465:D43E	ENSP00000323003:D43E	D	+	3	2	NDUFAF3	49035168	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	0.758000	0.26447	-0.073000	0.12842	-0.187000	0.12897	GAC		0.592	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069	
RBM6	10180	hgsc.bcm.edu	37	3	50095923	50095923	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:50095923C>T	ENST00000266022.4	+	10	2317	c.2058C>T	c.(2056-2058)aaC>aaT	p.N686N	RBM6_ENST00000422955.1_Silent_p.N164N|RBM6_ENST00000539992.1_Silent_p.N28N|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000442092.1_Silent_p.N164N|RBM6_ENST00000443081.1_Silent_p.N554N	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	686					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.N686N(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CTACTGCCAACGTCCGTATCA	0.507																																					p.N686N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2058T	3						.						195.0	180.0	185.0					3																	50095923		2203	4300	6503	50070927	SO:0001819	synonymous_variant	10180	exon10			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.2058C>T	3.37:g.50095923C>T			50070927	NM_005777	O60549|O75524|Q86SS3	Silent	SNP	ENST00000266022.4	37	CCDS2809.1																																																																																				0.507	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777	
TEX264	51368	hgsc.bcm.edu	37	3	51733497	51733497	+	Missense_Mutation	SNP	C	C	T	rs148617571	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:51733497C>T	ENST00000415259.1	+	4	1637	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	TEX264_ENST00000457573.1_Missense_Mutation_p.R186W|TEX264_ENST00000416589.1_Missense_Mutation_p.R186W|TEX264_ENST00000395057.1_Missense_Mutation_p.R186W|TEX264_ENST00000341333.5_Missense_Mutation_p.R186W|TEX264_ENST00000463857.1_3'UTR			Q9Y6I9	TX264_HUMAN	testis expressed 264	186						extracellular vesicular exosome (GO:0070062)		p.R186W(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		CCCACTGGCACGGCAGGGAGA	0.557																																					p.R186W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C556T	3						.						131.0	130.0	130.0					3																	51733497		2203	4300	6503	51708537	SO:0001583	missense	51368	exon4			AF072733	CCDS2833.1, CCDS74945.1	3p21	2007-03-13	2007-03-13		ENSG00000164081	ENSG00000164081			30247	protein-coding gene	gene with protein product			"""testis expressed gene 264"", ""testis expressed sequence 264"""			12975309	Standard	NM_001243725		Approved	ZSIG11, FLJ13935	uc003dbm.4	Q9Y6I9	OTTHUMG00000156901	ENST00000415259.1:c.556C>T	3.37:g.51733497C>T	ENSP00000396628:p.Arg186Trp		51708537	NM_015926	B3KN87|Q9UKD7	Missense_Mutation	SNP	ENST00000415259.1	37	CCDS2833.1	.	.	.	.	.	.	.	.	.	.	c	15.45	2.836313	0.50951	.	.	ENSG00000164081	ENST00000457573;ENST00000341333;ENST00000415259;ENST00000395057;ENST00000416589;ENST00000457927;ENST00000444233	T;T;T;T;T;T;T	0.03065	4.06;4.06;4.06;4.06;4.06;4.06;4.06	4.94	3.14	0.36123	.	0.069136	0.56097	D	0.000034	T	0.13286	0.0322	M	0.61703	1.905	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.00303	-1.1833	10	0.48119	T	0.1	-15.8317	11.1813	0.48629	0.1437:0.7181:0.1382:0.0	.	186;186	Q53GI2;Q9Y6I9	.;TX264_HUMAN	W	186	ENSP00000408186:R186W;ENSP00000340969:R186W;ENSP00000396628:R186W;ENSP00000378497:R186W;ENSP00000398802:R186W;ENSP00000407151:R186W;ENSP00000415957:R186W	ENSP00000340969:R186W	R	+	1	2	TEX264	51708537	0.966000	0.33281	1.000000	0.80357	0.953000	0.61014	1.778000	0.38614	0.498000	0.27948	-0.323000	0.08544	CGG		0.557	TEX264-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346530.1	NM_015926	
PCBP4	57060	hgsc.bcm.edu	37	3	51992236	51992236	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:51992236G>A	ENST00000461554.1	-	14	1384	c.1053C>T	c.(1051-1053)gcC>gcT	p.A351A	PCBP4_ENST00000484633.1_Silent_p.A308A|PCBP4_ENST00000395014.2_Silent_p.A372A|PCBP4_ENST00000471622.1_Intron|RP11-155D18.12_ENST00000488257.1_RNA|PCBP4_ENST00000322099.7_Silent_p.A351A|PCBP4_ENST00000428823.2_Silent_p.A308A|PCBP4_ENST00000355852.2_Silent_p.A351A|PCBP4_ENST00000395013.3_Silent_p.A191A	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	351						cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A372A(2)|p.A351A(1)		endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGAGGGAGATGGCATAGGGTG	0.697																																					p.A351A												.	.	3	Substitution - coding silent(3)	endometrium(2)|large_intestine(1)	c.C1053T	3						.						70.0	80.0	77.0					3																	51992236		2203	4300	6503	51967276	SO:0001819	synonymous_variant	57060	exon13			AF176330	CCDS2839.1, CCDS2840.1, CCDS2840.2	3p21	2013-07-16	2001-11-28		ENSG00000090097	ENSG00000090097			8652	protein-coding gene	gene with protein product	"""RNA binding protein MCG10"", ""LYST-interacting protein"", ""alphaCP-4 protein"""	608503	"""poly(rC)-binding protein 4"""			10936052	Standard	NM_033008		Approved	MCG10, LIP4	uc003dch.2	P57723	OTTHUMG00000157366	ENST00000461554.1:c.1053C>T	3.37:g.51992236G>A			51967276	NM_033010	Q96AH7	Silent	SNP	ENST00000461554.1	37	CCDS2839.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.302938	0.23736	.	.	ENSG00000090097	ENST00000294192	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	T	0.72843	0.3511	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74645	-0.3596	5	0.51188	T	0.08	-15.017	15.0792	0.72103	0.0:0.0:1.0:0.0	.	.	.	.	L	350	.	ENSP00000294192:P350L	P	-	2	0	PCBP4	51967276	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.911000	0.63328	2.292000	0.77174	0.467000	0.42956	CCA		0.697	PCBP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348597.1	NM_020418	
FLNB	2317	hgsc.bcm.edu	37	3	58092501	58092501	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:58092501C>T	ENST00000295956.4	+	12	2007	c.1842C>T	c.(1840-1842)ggC>ggT	p.G614G	FLNB_ENST00000490882.1_Silent_p.G614G|FLNB_ENST00000348383.5_Silent_p.G614G|FLNB_ENST00000419752.2_Silent_p.G445G|FLNB_ENST00000493452.1_Silent_p.G445G|FLNB_ENST00000357272.4_Silent_p.G614G|FLNB_ENST00000358537.3_Silent_p.G614G|FLNB_ENST00000429972.2_Silent_p.G614G	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	614					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.G614G(2)		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)		AGGAGCCTGGCGAATATGCTG	0.532																																					p.G614G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1842T	3						.						140.0	111.0	121.0					3																	58092501		2203	4300	6503	58067541	SO:0001819	synonymous_variant	2317	exon12			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.1842C>T	3.37:g.58092501C>T			58067541	NM_001164317	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	CCDS2885.1																																																																																				0.532	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	
FLNB	2317	hgsc.bcm.edu	37	3	58121740	58121740	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:58121740A>G	ENST00000295956.4	+	28	4871	c.4706A>G	c.(4705-4707)cAt>cGt	p.H1569R	FLNB_ENST00000490882.1_Missense_Mutation_p.H1600R|FLNB_ENST00000348383.5_Missense_Mutation_p.H1569R|FLNB_ENST00000419752.2_Missense_Mutation_p.H1400R|FLNB_ENST00000493452.1_Missense_Mutation_p.H1400R|FLNB_ENST00000357272.4_Missense_Mutation_p.H1569R|FLNB_ENST00000358537.3_Missense_Mutation_p.H1569R|FLNB_ENST00000429972.2_Missense_Mutation_p.H1569R	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1569					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.H1569R(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)		GCCATTGTCCATGACAATAAA	0.453																																					p.H1600R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4799G	3						.						87.0	76.0	80.0					3																	58121740		2203	4300	6503	58096780	SO:0001583	missense	2317	exon29			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.4706A>G	3.37:g.58121740A>G	ENSP00000295956:p.His1569Arg		58096780	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	.	.	.	.	.	.	.	.	.	.	A	6.109	0.388346	0.11581	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	5.99	5.99	0.97316	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.437415	0.30168	N	0.010247	T	0.73164	0.3552	N	0.03967	-0.31	0.44880	D	0.997891	B;B;B;B;B;B	0.34061	0.382;0.002;0.272;0.0;0.436;0.436	B;B;B;B;B;B	0.43155	0.287;0.02;0.268;0.001;0.41;0.41	T	0.72070	-0.4401	10	0.02654	T	1	.	16.4791	0.84152	1.0:0.0:0.0:0.0	.	1569;1600;1400;1400;1569;1569	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	R	1569;1600;1569;1569;1569;1569;1400;1400	ENSP00000295956:H1569R;ENSP00000420213:H1600R;ENSP00000351339:H1569R;ENSP00000415599:H1569R;ENSP00000232447:H1569R;ENSP00000349819:H1569R;ENSP00000418510:H1400R;ENSP00000414532:H1400R	ENSP00000295956:H1569R	H	+	2	0	FLNB	58096780	0.998000	0.40836	0.824000	0.32777	0.986000	0.74619	4.078000	0.57606	2.284000	0.76573	0.528000	0.53228	CAT		0.453	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	
PDZRN3	23024	hgsc.bcm.edu	37	3	73433700	73433700	+	Missense_Mutation	SNP	C	C	T	rs370987104		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:73433700C>T	ENST00000263666.4	-	10	2131	c.2017G>A	c.(2017-2019)Gcc>Acc	p.A673T	PDZRN3_ENST00000462146.2_Missense_Mutation_p.A330T|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Missense_Mutation_p.A395T|PDZRN3_ENST00000479530.1_Missense_Mutation_p.A390T|PDZRN3_ENST00000466780.1_Missense_Mutation_p.A330T	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	673					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A673T(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTCTTGCCGGCGTCCAGGGGG	0.657																																					p.A673T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2017A	3						.	C	THR/ALA	1,4405		0,1,2202	33.0	34.0	34.0		2017	4.0	0.1	3		34	0,8600		0,0,4300	no	missense	PDZRN3	NM_015009.1	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	673/1067	73433700	1,13005	2203	4300	6503	73516390	SO:0001583	missense	23024	exon10			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2017G>A	3.37:g.73433700C>T	ENSP00000263666:p.Ala673Thr		73516390	NM_015009	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	C	3.727	-0.056265	0.07362	2.27E-4	0.0	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000492909	T;T;T;T;T;T	0.09911	2.93;3.63;3.52;3.52;3.63;3.62	4.92	4.04	0.47022	.	1.554480	0.03170	N	0.170656	T	0.04318	0.0119	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.21071	0.01;0.051;0.029;0.051	B;B;B;B	0.15870	0.014;0.003;0.006;0.005	T	0.35051	-0.9804	10	0.11794	T	0.64	.	4.9559	0.14038	0.0:0.6927:0.0:0.3073	.	395;390;390;673	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	T	673;395;330;330;390;371	ENSP00000263666:A673T;ENSP00000442026:A395T;ENSP00000418168:A330T;ENSP00000418484:A330T;ENSP00000418624:A390T;ENSP00000419250:A371T	ENSP00000263666:A673T	A	-	1	0	PDZRN3	73516390	0.296000	0.24398	0.138000	0.22173	0.560000	0.35617	2.042000	0.41222	2.276000	0.75962	0.591000	0.81541	GCC		0.657	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363	
CADM2	253559	hgsc.bcm.edu	37	3	85932506	85932506	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:85932506G>A	ENST00000407528.2	+	3	339	c.277G>A	c.(277-279)Gat>Aat	p.D93N	CADM2_ENST00000405615.2_Missense_Mutation_p.D95N|CADM2_ENST00000383699.3_Missense_Mutation_p.D102N	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	93	Ig-like V-type.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.D95N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TAGTGTCAGTGATGTGTCTCT	0.418																																					p.D93N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G277A	3						.						132.0	110.0	118.0					3																	85932506		2203	4300	6503	86015196	SO:0001583	missense	253559	exon3			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.277G>A	3.37:g.85932506G>A	ENSP00000384575:p.Asp93Asn		86015196	NM_001167674	G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	7.432	0.638870	0.14386	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.23552	1.9;1.9;1.9	5.54	4.67	0.58626	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.043167	0.85682	D	0.000000	T	0.17323	0.0416	N	0.02296	-0.605	0.58432	D	0.999998	B;P;D	0.60575	0.021;0.918;0.988	B;P;P	0.57502	0.051;0.604;0.822	T	0.08680	-1.0710	10	0.02654	T	1	.	14.7403	0.69448	0.0698:0.0:0.9302:0.0	.	95;102;93	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	N	102;93;95	ENSP00000373200:D102N;ENSP00000384575:D93N;ENSP00000384193:D95N	ENSP00000373200:D102N	D	+	1	0	CADM2	86015196	1.000000	0.71417	1.000000	0.80357	0.001000	0.01503	7.575000	0.82447	1.479000	0.48272	-0.145000	0.13849	GAT		0.418	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184	
EPHA3	2042	hgsc.bcm.edu	37	3	89391076	89391076	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:89391076G>A	ENST00000336596.2	+	5	1367	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	EPHA3_ENST00000494014.1_Missense_Mutation_p.R381H|EPHA3_ENST00000452448.2_Missense_Mutation_p.R381H	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	381	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.R381H(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCAAATGTCCGCTTCCTCCCT	0.483										TSP Lung(6;0.00050)																											p.R381H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1142A	3						.						113.0	102.0	106.0					3																	89391076		2203	4300	6503	89473766	SO:0001583	missense	2042	exon5			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1142G>A	3.37:g.89391076G>A	ENSP00000337451:p.Arg381His		89473766	NM_005233	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.310694	0.23821	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.58060	0.36;0.36;0.36	5.66	1.87	0.25490	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.193896	0.56097	N	0.000026	T	0.42154	0.1190	L	0.51422	1.61	0.46654	D	0.999146	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.0	T	0.21177	-1.0253	9	.	.	.	.	9.9111	0.41406	0.3263:0.0:0.6737:0.0	.	381;381	P29320;P29320-2	EPHA3_HUMAN;.	H	381	ENSP00000337451:R381H;ENSP00000399926:R381H;ENSP00000419190:R381H	.	R	+	2	0	EPHA3	89473766	0.985000	0.35326	1.000000	0.80357	0.999000	0.98932	2.453000	0.44970	0.438000	0.26450	0.655000	0.94253	CGC		0.483	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	
SENP5	205564	hgsc.bcm.edu	37	3	196626899	196626899	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr3:196626899C>T	ENST00000323460.5	+	4	1973	c.1724C>T	c.(1723-1725)gCg>gTg	p.A575V	SENP5_ENST00000445299.2_Missense_Mutation_p.A575V|SENP5_ENST00000419026.1_Missense_Mutation_p.A65V	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	575	Protease.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.A575V(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		GACGACCTGGCGACTCTGGAT	0.383																																					p.A575V	Ovarian(47;891 1095 11174 13858 51271)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1724T	3						.						84.0	86.0	85.0					3																	196626899		2203	4300	6503	198111296	SO:0001583	missense	205564	exon4			BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.1724C>T	3.37:g.196626899C>T	ENSP00000327197:p.Ala575Val		198111296	NM_152699	B4DY82|Q96SA5	Missense_Mutation	SNP	ENST00000323460.5	37	CCDS3322.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.480004	0.44044	.	.	ENSG00000119231	ENST00000323460;ENST00000445299;ENST00000419026	T;T;T	0.42131	0.98;1.55;0.98	5.84	2.13	0.27403	.	0.594409	0.18573	N	0.137268	T	0.26774	0.0655	L	0.36672	1.1	0.29439	N	0.859305	P;P	0.39352	0.669;0.669	B;B	0.28011	0.053;0.085	T	0.11060	-1.0603	10	0.62326	D	0.03	0.876	9.2996	0.37838	0.0:0.7058:0.0:0.2942	.	575;575	B4DY82;Q96HI0	.;SENP5_HUMAN	V	575;575;65	ENSP00000327197:A575V;ENSP00000390231:A575V;ENSP00000396927:A65V	ENSP00000327197:A575V	A	+	2	0	SENP5	198111296	0.829000	0.29322	0.259000	0.24435	0.921000	0.55340	1.615000	0.36922	0.193000	0.20303	-0.157000	0.13467	GCG		0.383	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699	
NUAK1	9891	hgsc.bcm.edu	37	12	106532298	106532298	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:106532298T>C	ENST00000261402.2	-	1	1513	c.134A>G	c.(133-135)cAt>cGt	p.H45R		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	45					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.H45R(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						CTTGTGGTGATGCCGCTTCAC	0.687																																					p.H45R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A134G	12						.						67.0	56.0	60.0					12																	106532298		2203	4300	6503	105056428	SO:0001583	missense	9891	exon1			AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.134A>G	12.37:g.106532298T>C	ENSP00000261402:p.His45Arg		105056428	NM_014840	A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.610724	0.87258	.	.	ENSG00000074590	ENST00000261402;ENST00000359413	T	0.74106	-0.81	4.07	4.07	0.47477	Protein kinase-like domain (1);	0.000000	0.53938	D	0.000054	T	0.69922	0.3165	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.66256	-0.5969	10	0.15066	T	0.55	.	13.0299	0.58837	0.0:0.0:0.0:1.0	.	45	O60285	NUAK1_HUMAN	R	45	ENSP00000261402:H45R	ENSP00000261402:H45R	H	-	2	0	NUAK1	105056428	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.642000	0.83385	1.494000	0.48533	0.260000	0.18958	CAT		0.687	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840	
TCP11L2	255394	hgsc.bcm.edu	37	12	106729885	106729885	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:106729885T>C	ENST00000299045.3	+	8	1210	c.1036T>C	c.(1036-1038)Tcc>Ccc	p.S346P		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	346								p.S346P(1)		endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						TGCCTGCCTGTCCCTAATTAC	0.393																																					p.S346P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1036C	12						.						108.0	93.0	98.0					12																	106729885		2203	4300	6503	105254015	SO:0001583	missense	255394	exon8			BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 2"", ""t-complex 11 (mouse)-like 2"""				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.1036T>C	12.37:g.106729885T>C	ENSP00000299045:p.Ser346Pro		105254015	NM_152772	B2RA65|G3V1Y9	Missense_Mutation	SNP	ENST00000299045.3	37	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	T	17.29	3.351330	0.61183	.	.	ENSG00000166046	ENST00000299045	T	0.11712	2.75	5.73	1.82	0.25136	.	0.429757	0.28114	N	0.016556	T	0.17109	0.0411	L	0.36672	1.1	0.80722	D	1	B	0.32893	0.389	P	0.47705	0.555	T	0.05225	-1.0898	10	0.62326	D	0.03	-19.729	13.6068	0.62052	0.0:0.0:0.366:0.634	.	346	Q8N4U5	T11L2_HUMAN	P	346	ENSP00000299045:S346P	ENSP00000299045:S346P	S	+	1	0	TCP11L2	105254015	0.956000	0.32656	0.873000	0.34254	0.995000	0.86356	2.117000	0.41939	0.112000	0.17975	0.533000	0.62120	TCC		0.393	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1	NM_152772	
ANKRD13A	88455	hgsc.bcm.edu	37	12	110466419	110466419	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:110466419C>T	ENST00000261739.4	+	10	1214	c.1048C>T	c.(1048-1050)Ccg>Tcg	p.P350S	C12orf76_ENST00000546651.2_Intron	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	350						endosome (GO:0005768)|plasma membrane (GO:0005886)		p.P350S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						CATTGGAAGGCCGAAAGAGCT	0.438																																					p.P350S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1048T	12						.						123.0	108.0	113.0					12																	110466419		2203	4300	6503	108950802	SO:0001583	missense	88455	exon10			AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513		"""Ankyrin repeat domain containing"""	21268	protein-coding gene	gene with protein product		615123	"""ankyrin repeat domain 13"""	ANKRD13		10508479	Standard	NM_033121		Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.1048C>T	12.37:g.110466419C>T	ENSP00000261739:p.Pro350Ser		108950802	NM_033121	O60736	Missense_Mutation	SNP	ENST00000261739.4	37	CCDS9140.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070722	0.93950	.	.	ENSG00000076513	ENST00000261738;ENST00000261739;ENST00000546476	T	0.42513	0.97	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.71065	0.3296	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.75747	-0.3209	10	0.87932	D	0	-23.2956	18.7841	0.91947	0.0:1.0:0.0:0.0	.	349;350	B4DYP5;Q8IZ07	.;AN13A_HUMAN	S	134;350;121	ENSP00000261739:P350S	ENSP00000261738:P134S	P	+	1	0	ANKRD13A	108950802	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.431000	0.80335	2.689000	0.91719	0.655000	0.94253	CCG		0.438	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1	NM_033121	
ACAD10	80724	hgsc.bcm.edu	37	12	112184981	112184981	+	Silent	SNP	C	C	T	rs144834684	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:112184981C>T	ENST00000313698.4	+	15	2540	c.2385C>T	c.(2383-2385)acC>acT	p.T795T	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Silent_p.T397T|ACAD10_ENST00000455480.2_Silent_p.T826T	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	795						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.T795T(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TTGCTATGACCGAGCCCCAGG	0.632													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18555	0.0		0.0	False		,,,				2504	0.0				p.T795T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2385T	12						.	C	,	2,4404	6.2+/-15.9	0,2,2201	57.0	50.0	52.0		2478,2385	-11.7	0.0	12	dbSNP_134	52	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ACAD10	NM_001136538.1,NM_025247.5	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	826/1091,795/1060	112184981	2,13004	2203	4300	6503	110669364	SO:0001819	synonymous_variant	80724	exon15			AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.2385C>T	12.37:g.112184981C>T			110669364	NM_025247	G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Silent	SNP	ENST00000313698.4	37	CCDS31903.1																																																																																				0.632	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247	
DTX1	1840	hgsc.bcm.edu	37	12	113534686	113534686	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:113534686A>G	ENST00000257600.3	+	9	2308	c.1805A>G	c.(1804-1806)gAc>gGc	p.D602G	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	602					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.D602G(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						AGCTACCTAGACAACGTGCTG	0.637																																					p.D602G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1805G	12						.						66.0	49.0	55.0					12																	113534686		2203	4300	6503	112019069	SO:0001583	missense	1840	exon9			AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1805A>G	12.37:g.113534686A>G	ENSP00000257600:p.Asp602Gly		112019069	NM_004416	O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.304661	0.60305	.	.	ENSG00000135144	ENST00000257600	T	0.49432	0.78	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.64461	0.2600	M	0.76838	2.35	0.58432	D	0.999999	D	0.57899	0.981	P	0.58130	0.833	T	0.69840	-0.5036	10	0.66056	D	0.02	-13.0985	13.6907	0.62544	1.0:0.0:0.0:0.0	.	602	Q86Y01	DTX1_HUMAN	G	602	ENSP00000257600:D602G	ENSP00000257600:D602G	D	+	2	0	DTX1	112019069	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	9.265000	0.95647	1.870000	0.54199	0.459000	0.35465	GAC		0.637	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2		
SLC8B1	80024	hgsc.bcm.edu	37	12	113745574	113745574	+	Missense_Mutation	SNP	G	G	A	rs138122858	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:113745574G>A	ENST00000552014.1	-	14	1848	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	SLC8B1_ENST00000549069.1_5'Flank|SLC8B1_ENST00000550047.1_5'UTR|SLC8B1_ENST00000202831.3_Missense_Mutation_p.R445W|SLC8B1_ENST00000546737.1_Missense_Mutation_p.R389W|SLC8B1_ENST00000553238.1_5'Flank			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	445					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)	p.R445W(1)									CCCAGGGACCGCAAGATGTTC	0.627																																					p.R445W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1333T	12						.	G	TRP/ARG	0,4406		0,0,2203	68.0	58.0	61.0		1333	4.3	1.0	12	dbSNP_134	61	3,8597	3.0+/-9.4	0,3,4297	yes	missense	SLC24A6	NM_024959.2	101	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	445/585	113745574	3,13003	2203	4300	6503	112229957	SO:0001583	missense	80024	exon13			AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.1333C>T	12.37:g.113745574G>A	ENSP00000447091:p.Arg445Trp		112229957	NM_024959	A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Missense_Mutation	SNP	ENST00000552014.1	37	CCDS31909.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141990	0.77775	0.0	3.49E-4	ENSG00000089060	ENST00000552014;ENST00000202831;ENST00000377458;ENST00000546737	T;T;T	0.63744	-0.06;-0.06;-0.06	4.35	4.35	0.52113	Sodium/calcium exchanger membrane region (1);	0.150255	0.45867	D	0.000322	T	0.74846	0.3770	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.76494	0.999;0.997	P;D	0.66979	0.892;0.948	T	0.75196	-0.3403	10	0.41790	T	0.15	.	17.812	0.88619	0.0:0.0:1.0:0.0	.	445;150	Q6J4K2;B3KSP6	NCKX6_HUMAN;.	W	445;445;389;389	ENSP00000447091:R445W;ENSP00000202831:R445W;ENSP00000450081:R389W	ENSP00000202831:R445W	R	-	1	2	SLC24A6	112229957	1.000000	0.71417	0.974000	0.42286	0.299000	0.27559	5.326000	0.65875	2.363000	0.80096	0.644000	0.83932	CGG		0.627	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959	
RBM19	9904	hgsc.bcm.edu	37	12	114296693	114296693	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:114296693C>A	ENST00000545145.2	-	22	2645	c.2567G>T	c.(2566-2568)gGg>gTg	p.G856V	RBM19_ENST00000392561.3_Missense_Mutation_p.G856V|RBM19_ENST00000261741.5_Missense_Mutation_p.G856V	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	856	RRM 6. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G856V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CTTCAACTCCCCAAAGGTGCT	0.527																																					p.G856V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2567T	12						.						84.0	81.0	82.0					12																	114296693		2203	4300	6503	112781076	SO:0001583	missense	9904	exon22			AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2567G>T	12.37:g.114296693C>A	ENSP00000442053:p.Gly856Val		112781076	NM_016196	A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598477	0.87055	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.47177	0.85;0.85;0.85	5.28	5.28	0.74379	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.110577	0.64402	D	0.000009	T	0.81527	0.4841	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88814	0.3294	10	0.87932	D	0	-36.8144	18.9315	0.92568	0.0:1.0:0.0:0.0	.	856	Q9Y4C8	RBM19_HUMAN	V	856	ENSP00000442053:G856V;ENSP00000376344:G856V;ENSP00000261741:G856V	ENSP00000261741:G856V	G	-	2	0	RBM19	112781076	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.277000	0.78572	2.457000	0.83068	0.655000	0.94253	GGG		0.527	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196	
MED13L	23389	hgsc.bcm.edu	37	12	116429331	116429331	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:116429331G>A	ENST00000281928.3	-	17	3634	c.3428C>T	c.(3427-3429)gCg>gTg	p.A1143V		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1143						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.A1143V(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)		CCCGACATCCGCCCCTTTGAT	0.458																																					p.A1143V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3428T	12						.						70.0	68.0	68.0					12																	116429331		2203	4300	6503	114913714	SO:0001583	missense	23389	exon17			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.3428C>T	12.37:g.116429331G>A	ENSP00000281928:p.Ala1143Val		114913714	NM_015335	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145453	0.77888	.	.	ENSG00000123066	ENST00000281928	T	0.77750	-1.12	5.35	5.35	0.76521	.	0.099322	0.64402	D	0.000002	D	0.87087	0.6090	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.87505	0.2436	10	0.72032	D	0.01	.	19.2467	0.93905	0.0:0.0:1.0:0.0	.	1143	Q71F56	MD13L_HUMAN	V	1143	ENSP00000281928:A1143V	ENSP00000281928:A1143V	A	-	2	0	MED13L	114913714	1.000000	0.71417	0.973000	0.42090	0.958000	0.62258	9.263000	0.95617	2.784000	0.95788	0.585000	0.79938	GCG		0.458	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3		
PITPNM2	57605	hgsc.bcm.edu	37	12	123475124	123475124	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:123475124G>A	ENST00000542749.1	-	15	2600	c.2537C>T	c.(2536-2538)gCt>gTt	p.A846V	PITPNM2_ENST00000392428.1_Missense_Mutation_p.A567V|PITPNM2_ENST00000280562.5_Missense_Mutation_p.A894V|PITPNM2_ENST00000320201.4_Missense_Mutation_p.A846V			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	846	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)	p.A846V(1)		NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTAGCTCTCAGCCATGCCTGA	0.657																																					p.A846V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2537T	12						.						73.0	57.0	62.0					12																	123475124		2202	4300	6502	122041077	SO:0001583	missense	57605	exon16			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.2537C>T	12.37:g.123475124G>A	ENSP00000437611:p.Ala846Val		122041077	NM_020845	Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298022	0.81025	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.47869	1.21;1.15;0.83;1.15	5.35	4.46	0.54185	DDHD (2);	0.202262	0.41396	N	0.000892	T	0.63534	0.2519	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.968;1.0	P;D	0.87578	0.79;0.998	T	0.60831	-0.7185	10	0.27785	T	0.31	-19.0649	13.667	0.62401	0.074:0.0:0.926:0.0	.	894;846	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	V	894;846;567;846	ENSP00000280562:A894V;ENSP00000322218:A846V;ENSP00000376223:A567V;ENSP00000437611:A846V	ENSP00000280562:A894V	A	-	2	0	PITPNM2	122041077	1.000000	0.71417	0.412000	0.26496	0.831000	0.47069	6.763000	0.74955	1.250000	0.43966	0.462000	0.41574	GCT		0.657	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845	
ATP6V0A2	23545	hgsc.bcm.edu	37	12	124233305	124233305	+	Silent	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:124233305T>C	ENST00000330342.3	+	15	2156	c.1908T>C	c.(1906-1908)agT>agC	p.S636S		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	636					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)	p.S636S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TCCCAGCCAGTAAAACAAGTG	0.403																																					p.S636S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1908C	12						.						87.0	89.0	88.0					12																	124233305		2203	4300	6503	122799258	SO:0001819	synonymous_variant	23545	exon15			AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.1908T>C	12.37:g.124233305T>C			122799258	NM_012463	A8K026|Q6NUM0	Silent	SNP	ENST00000330342.3	37	CCDS9254.1																																																																																				0.403	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463	
DHX37	57647	hgsc.bcm.edu	37	12	125451399	125451399	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:125451399C>T	ENST00000308736.2	-	12	1628	c.1530G>A	c.(1528-1530)tcG>tcA	p.S510S	DHX37_ENST00000544745.1_Silent_p.S297S	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	510	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.S510S(1)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TTTCCTCCACCGAGTCTTTCT	0.602																																					p.S510S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1530A	12						.						123.0	122.0	122.0					12																	125451399		2203	4300	6503	124017352	SO:0001819	synonymous_variant	57647	exon12			AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.1530G>A	12.37:g.125451399C>T			124017352	NM_032656	Q9BUI7|Q9P211	Silent	SNP	ENST00000308736.2	37	CCDS9261.1																																																																																				0.602	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656	
GPRC5A	9052	hgsc.bcm.edu	37	12	13061597	13061597	+	Silent	SNP	C	C	T	rs372744055		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:13061597C>T	ENST00000014914.5	+	2	1304	c.414C>T	c.(412-414)gcC>gcT	p.A138A	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	138					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A138A(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	TGGGTCTGGCCGTGGGCTTCA	0.527																																					p.A138A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C414T	12						.	T		1,4405	2.1+/-5.4	0,1,2202	160.0	160.0	160.0		414	-10.2	0.0	12		160	0,8600		0,0,4300	no	coding-synonymous	GPRC5A	NM_003979.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		138/358	13061597	1,13005	2203	4300	6503	12952864	SO:0001819	synonymous_variant	9052	exon2			AF095448	CCDS8657.1	12p13-p12.3	2014-01-30	2014-01-30	2005-05-03		ENSG00000013588		"""GPCR / Class C : Orphans"""	9836	protein-coding gene	gene with protein product		604138	"""retinoic acid induced 3"", ""G protein-coupled receptor, family C, group 5, member A"""	RAI3, GPCR5A		9857033	Standard	NM_003979		Approved	RAIG1	uc001rba.3	Q8NFJ5		ENST00000014914.5:c.414C>T	12.37:g.13061597C>T			12952864	NM_003979	B3KV45|O95357	Silent	SNP	ENST00000014914.5	37	CCDS8657.1																																																																																				0.527	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400682.1		
TMEM132D	121256	hgsc.bcm.edu	37	12	129694073	129694073	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:129694073C>A	ENST00000422113.2	-	5	1761	c.1435G>T	c.(1435-1437)Gtg>Ttg	p.V479L	RP11-669N7.3_ENST00000542578.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	479					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.V479L(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCCTTAATCACGTCTTCATCA	0.587																																					p.V479L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1435T	12						.						101.0	82.0	89.0					12																	129694073		2203	4300	6503	128260026	SO:0001583	missense	121256	exon5			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1435G>T	12.37:g.129694073C>A	ENSP00000408581:p.Val479Leu		128260026	NM_133448	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395777	0.62177	.	.	ENSG00000151952	ENST00000422113	T	0.24538	1.85	5.41	4.42	0.53409	.	0.305199	0.27080	N	0.021026	T	0.47229	0.1434	M	0.87456	2.885	0.47441	D	0.99942	P	0.49862	0.929	P	0.52386	0.697	T	0.55010	-0.8207	9	.	.	.	-31.8804	13.6948	0.62572	0.0:0.9203:0.0:0.0797	.	479	Q14C87	T132D_HUMAN	L	479	ENSP00000408581:V479L	.	V	-	1	0	TMEM132D	128260026	0.338000	0.24775	0.042000	0.18584	0.894000	0.52154	1.221000	0.32503	1.096000	0.41439	0.655000	0.94253	GTG		0.587	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
GPR133	283383	hgsc.bcm.edu	37	12	131488837	131488837	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:131488837G>A	ENST00000261654.5	+	11	1810	c.1251G>A	c.(1249-1251)agG>agA	p.R417R	GPR133_ENST00000376682.4_Silent_p.R103R|GPR133_ENST00000535015.1_Silent_p.R449R	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	417					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.R417R(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCTTCCACAGGCACGGTGAGT	0.642																																					p.R417R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1251A	12						.						60.0	53.0	55.0					12																	131488837		2203	4300	6503	130054790	SO:0001819	synonymous_variant	283383	exon11			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1251G>A	12.37:g.131488837G>A			130054790	NM_198827	B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	CCDS9272.1																																																																																				0.642	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827	
RAD52	5893	hgsc.bcm.edu	37	12	1039036	1039036	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:1039036G>C	ENST00000358495.3	-	5	435	c.297C>G	c.(295-297)aaC>aaG	p.N99K	RAD52_ENST00000430095.2_Missense_Mutation_p.N99K|RAD52_ENST00000545564.1_Missense_Mutation_p.N99K|RAD52_ENST00000536177.1_Missense_Mutation_p.N99K|RAD52_ENST00000539046.1_Missense_Mutation_p.N22K	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	99					DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)	p.N99K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			ACTTGCCATTGTTGAGGTCAA	0.547								Homologous recombination																													p.N99K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C297G	12						.						223.0	210.0	214.0					12																	1039036		2203	4300	6503	909297	SO:0001583	missense	5893	exon5				CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"""RAD52 (S. cerevisiae) homolog"""			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.297C>G	12.37:g.1039036G>C	ENSP00000351284:p.Asn99Lys		909297	NM_134424	Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Missense_Mutation	SNP	ENST00000358495.3	37	CCDS8507.2	.	.	.	.	.	.	.	.	.	.	G	13.43	2.234463	0.39498	.	.	ENSG00000002016	ENST00000358495;ENST00000430095;ENST00000539046;ENST00000536177;ENST00000545564;ENST00000542785;ENST00000397230	T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59	4.5	3.6	0.41247	.	0.143235	0.64402	D	0.000008	T	0.28962	0.0719	L	0.29908	0.895	0.40774	D	0.983114	B;P;D	0.54207	0.109;0.84;0.965	B;B;P	0.54759	0.076;0.306;0.76	T	0.01428	-1.1357	10	0.16896	T	0.51	-4.9889	8.3758	0.32442	0.1807:0.0:0.8193:0.0	.	99;99;99	F5GX32;Q9Y5T7;P43351	.;.;RAD52_HUMAN	K	99;99;22;99;99;99;99	ENSP00000351284:N99K;ENSP00000387901:N99K;ENSP00000445245:N22K;ENSP00000440486:N99K;ENSP00000440268:N99K;ENSP00000441073:N99K;ENSP00000380407:N99K	ENSP00000351284:N99K	N	-	3	2	RAD52	909297	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.332000	0.43903	2.507000	0.84556	0.462000	0.41574	AAC		0.547	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	NM_134424	
ADIPOR2	79602	hgsc.bcm.edu	37	12	1893097	1893097	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:1893097T>C	ENST00000357103.4	+	7	1141	c.890T>C	c.(889-891)gTc>gCc	p.V297A		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	297					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|female pregnancy (GO:0007565)|heart development (GO:0007507)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of cell growth (GO:0030308)|positive regulation of glucose import (GO:0046326)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|receptor activity (GO:0004872)	p.V297A(1)		endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			TTGCACTATGTCATCTCGGAG	0.512																																					p.V297A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T890C	12						.						98.0	92.0	94.0					12																	1893097		2203	4300	6503	1763358	SO:0001583	missense	79602	exon7			AY424280	CCDS8511.1	12p13	2012-08-22			ENSG00000006831	ENSG00000006831		"""GPCR / Unclassified : Adiponectin receptors"""	24041	protein-coding gene	gene with protein product		607946				12802337	Standard	NM_024551		Approved	PAQR2, ACDCR2	uc001qjm.3	Q86V24	OTTHUMG00000130139	ENST00000357103.4:c.890T>C	12.37:g.1893097T>C	ENSP00000349616:p.Val297Ala		1763358	NM_024551	Q53YY5|Q9H737	Missense_Mutation	SNP	ENST00000357103.4	37	CCDS8511.1	.	.	.	.	.	.	.	.	.	.	T	17.98	3.520741	0.64747	.	.	ENSG00000006831	ENST00000357103	T	0.28666	1.6	5.67	5.67	0.87782	.	0.110105	0.64402	D	0.000007	T	0.21227	0.0511	N	0.17674	0.51	0.58432	D	0.99999	B	0.09022	0.002	B	0.14023	0.01	T	0.07578	-1.0765	10	0.14252	T	0.57	-18.732	15.9271	0.79628	0.0:0.0:0.0:1.0	.	297	Q86V24	ADR2_HUMAN	A	297	ENSP00000349616:V297A	ENSP00000349616:V297A	V	+	2	0	ADIPOR2	1763358	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.468000	0.53086	2.159000	0.67721	0.533000	0.62120	GTC		0.512	ADIPOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252447.2	NM_024551	
ITFG2	55846	hgsc.bcm.edu	37	12	2929326	2929326	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:2929326G>T	ENST00000228799.2	+	5	620	c.481G>T	c.(481-483)Ggt>Tgt	p.G161C	ITFG2_ENST00000542548.1_Missense_Mutation_p.G49C|ITFG2_ENST00000419778.2_5'UTR	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	161					germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.G161C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GGAGGAGCTAGGTGAGGGTCC	0.587																																					p.G161C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G481T	12						.						126.0	93.0	104.0					12																	2929326		2203	4300	6503	2799587	SO:0001583	missense	55846	exon5			AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.481G>T	12.37:g.2929326G>T	ENSP00000228799:p.Gly161Cys		2799587	NM_018463	A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Missense_Mutation	SNP	ENST00000228799.2	37	CCDS8513.1	.	.	.	.	.	.	.	.	.	.	G	7.234	0.599826	0.13939	.	.	ENSG00000111203	ENST00000228799;ENST00000542548	T	0.71103	-0.54	4.58	-0.922	0.10468	.	0.451250	0.25154	N	0.032729	T	0.57533	0.2060	L	0.57536	1.79	0.19300	N	0.999979	P	0.45348	0.856	B	0.40101	0.319	T	0.53215	-0.8470	10	0.49607	T	0.09	-7.5295	3.6423	0.08172	0.3421:0.0:0.3696:0.2883	.	161	Q969R8	ITFG2_HUMAN	C	161;49	ENSP00000228799:G161C	ENSP00000228799:G161C	G	+	1	0	ITFG2	2799587	0.001000	0.12720	0.574000	0.28523	0.982000	0.71751	0.020000	0.13466	-0.087000	0.12528	0.561000	0.74099	GGT		0.587	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253091.1	NM_018463	
PRMT8	56341	hgsc.bcm.edu	37	12	3678729	3678729	+	Splice_Site	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:3678729C>T	ENST00000382622.3	+	6	1101	c.711C>T	c.(709-711)caC>caT	p.H237H	PRMT8_ENST00000452611.2_Splice_Site_p.H228H|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	237	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.H237H(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TCAAAATCCACTGTAAGTCCC	0.522																																					p.H237H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C711T	12						.						120.0	102.0	108.0					12																	3678729		2203	4300	6503	3548990	SO:0001630	splice_region_variant	56341	exon6			AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.712+1C>T	12.37:g.3678729C>T			3548990	NM_019854	B2RDP0|Q8TBJ8	Silent	SNP	ENST00000382622.3	37	CCDS8521.2																																																																																				0.522	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854	Silent
VWF	7450	hgsc.bcm.edu	37	12	6101095	6101095	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:6101095G>T	ENST00000261405.5	-	38	6942	c.6688C>A	c.(6688-6690)Cat>Aat	p.H2230N		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2230	E2.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.H2230N(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCGGAGGGATGGTCCCCACAG	0.557																																					p.H2230N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6688A	12						.						105.0	83.0	90.0					12																	6101095		2203	4300	6503	5971356	SO:0001583	missense	7450	exon38				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.6688C>A	12.37:g.6101095G>T	ENSP00000261405:p.His2230Asn		5971356	NM_000552	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	g	8.741	0.918906	0.17982	.	.	ENSG00000110799	ENST00000261405	D	0.90444	-2.67	5.64	3.77	0.43336	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.308918	0.23395	N	0.048658	D	0.86569	0.5964	M	0.77616	2.38	0.22253	N	0.999258	B	0.09022	0.002	B	0.08055	0.003	T	0.69143	-0.5223	10	0.12103	T	0.63	.	4.0736	0.09894	0.245:0.0:0.5845:0.1705	.	2230	P04275	VWF_HUMAN	N	2230	ENSP00000261405:H2230N	ENSP00000261405:H2230N	H	-	1	0	VWF	5971356	0.907000	0.30839	0.152000	0.22495	0.840000	0.47671	3.247000	0.51422	0.690000	0.31570	-0.152000	0.13540	CAT		0.557	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	
MLF2	8079	hgsc.bcm.edu	37	12	6859133	6859133	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:6859133C>T	ENST00000203630.5	-	7	1084	c.440G>A	c.(439-441)gGa>gAa	p.G147E	MLF2_ENST00000542154.1_Missense_Mutation_p.G147E|MLF2_ENST00000564181.1_5'Flank|MLF2_ENST00000435120.1_Missense_Mutation_p.G147E|MLF2_ENST00000539187.1_Missense_Mutation_p.G147E			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	147					defense response (GO:0006952)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.G147E(1)		kidney(2)|large_intestine(3)|lung(4)	9						CTGCTCCAGTCCACTGTCTGA	0.617																																					p.G147E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G440A	12						.						124.0	93.0	103.0					12																	6859133		2203	4300	6503	6729394	SO:0001583	missense	8079	exon7			U57342	CCDS8559.1	12p13.31	2014-09-11			ENSG00000089693	ENSG00000089693			7126	protein-coding gene	gene with protein product		601401				8661158	Standard	NM_005439		Approved	NTN4	uc010sfi.2	Q15773	OTTHUMG00000168717	ENST00000203630.5:c.440G>A	12.37:g.6859133C>T	ENSP00000203630:p.Gly147Glu		6729394	NM_005439		Missense_Mutation	SNP	ENST00000203630.5	37	CCDS8559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.462698|5.462698	0.96240|0.96240	.|.	.|.	ENSG00000089693|ENSG00000089693	ENST00000537126|ENST00000435120;ENST00000203630;ENST00000542154;ENST00000539187	.|.	.|.	.|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84866|0.84866	0.5567|0.5567	M|M	0.85630|0.85630	2.765|2.765	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.86208|0.86208	0.1623|0.1623	6|9	0.87932|0.87932	D|D	0|0	.|.	20.1237|20.1237	0.97972|0.97972	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|147	.|Q15773	.|MLF2_HUMAN	N|E	158|147	.|.	ENSP00000439789:D158N|ENSP00000203630:G147E	D|G	-|-	1|2	0|0	MLF2|MLF2	6729394|6729394	1.000000|1.000000	0.71417|0.71417	0.950000|0.950000	0.38849|0.38849	0.989000|0.989000	0.77384|0.77384	7.487000|7.487000	0.81328|0.81328	2.759000|2.759000	0.94783|0.94783	0.561000|0.561000	0.74099|0.74099	GAC|GGA		0.617	MLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400733.2		
GNB3	2784	hgsc.bcm.edu	37	12	6954917	6954917	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:6954917C>T	ENST00000229264.3	+	10	1272	c.867C>T	c.(865-867)taC>taT	p.Y289Y	GNB3_ENST00000435982.2_Silent_p.Y288Y|CDCA3_ENST00000604599.1_5'UTR|CDCA3_ENST00000422785.3_3'UTR	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	289					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)	p.Y289Y(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						TCGCTGGCTACGACGACTTCA	0.607																																					p.Y289Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C867T	12						.						167.0	160.0	162.0					12																	6954917		2203	4300	6503	6825178	SO:0001819	synonymous_variant	2784	exon10				CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.867C>T	12.37:g.6954917C>T			6825178	NM_002075	Q96B71|Q9BQC0	Silent	SNP	ENST00000229264.3	37	CCDS8564.1																																																																																				0.607	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075	
CLSTN3	9746	hgsc.bcm.edu	37	12	7280987	7280987	+	5'Flank	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:7280987G>A	ENST00000266546.6	+	0	0				RBP5_ENST00000266560.3_Missense_Mutation_p.A34V|RBP5_ENST00000542370.1_Missense_Mutation_p.A34V|RP11-273B20.1_ENST00000544657.1_RNA|RP11-273B20.1_ENST00000538062.1_RNA	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3						homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.A34V(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CAGCAGCAGCGCGATCTTCCG	0.602																																					p.A34V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C101T	12						.						122.0	107.0	112.0					12																	7280987		2203	4300	6503	7172254	SO:0001631	upstream_gene_variant	83758	exon2			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167		12.37:g.7280987G>A	Exception_encountered		7172254	NM_031491	D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	G	8.703	0.910094	0.17833	.	.	ENSG00000139194	ENST00000266560;ENST00000542370	T;T	0.09350	2.99;2.99	3.31	-3.27	0.05048	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.266810	0.35838	N	0.002953	T	0.06645	0.0170	N	0.25426	0.745	0.22835	N	0.998676	B	0.27679	0.185	B	0.20384	0.029	T	0.15752	-1.0426	10	0.44086	T	0.13	.	12.8718	0.57968	0.8321:0.0:0.1679:0.0	.	34	P82980	RET5_HUMAN	V	34	ENSP00000266560:A34V;ENSP00000438083:A34V	ENSP00000266560:A34V	A	-	2	0	RBP5	7172254	0.267000	0.24122	0.013000	0.15412	0.112000	0.19704	0.879000	0.28146	-0.816000	0.04340	0.491000	0.48974	GCG		0.602	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718	
GDF3	9573	hgsc.bcm.edu	37	12	7843136	7843136	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:7843136G>A	ENST00000329913.3	-	2	480	c.433C>T	c.(433-435)Ctg>Ttg	p.L145L		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	145					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AACAGAGCCAGTTCCAGCTCT	0.547																																					p.L145L												.	.	0			c.C433T	12						.						55.0	58.0	57.0					12																	7843136		2203	4300	6503	7734403	SO:0001819	synonymous_variant	9573	exon2			AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"""Endogenous ligands"""	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.433C>T	12.37:g.7843136G>A			7734403	NM_020634	Q8NEJ4	Silent	SNP	ENST00000329913.3	37	CCDS8581.1																																																																																				0.547	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1		
C3AR1	719	hgsc.bcm.edu	37	12	8211772	8211772	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:8211772G>A	ENST00000307637.4	-	2	1213	c.1010C>T	c.(1009-1011)aCg>aTg	p.T337M		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	337					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.T337M(1)		breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		CCTAGTGATCGTTATTGCCAC	0.488																																					p.T337M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1010T	12						.						153.0	142.0	146.0					12																	8211772		2203	4300	6503	8103039	SO:0001583	missense	719	exon2			U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.1010C>T	12.37:g.8211772G>A	ENSP00000302079:p.Thr337Met		8103039	NM_004054	O43771|Q92868	Missense_Mutation	SNP	ENST00000307637.4	37	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189766	0.57909	.	.	ENSG00000171860	ENST00000307637	T	0.38240	1.15	5.79	4.9	0.64082	GPCR, rhodopsin-like superfamily (1);	0.262420	0.29892	N	0.010937	T	0.57460	0.2055	M	0.75777	2.31	0.20638	N	0.999876	D	0.76494	0.999	D	0.65773	0.938	T	0.54622	-0.8266	10	0.66056	D	0.02	.	12.855	0.57880	0.0786:0.0:0.9214:0.0	.	337	Q16581	C3AR_HUMAN	M	337	ENSP00000302079:T337M	ENSP00000302079:T337M	T	-	2	0	C3AR1	8103039	0.195000	0.23338	0.047000	0.18901	0.096000	0.18686	0.574000	0.23714	1.466000	0.48025	-0.137000	0.14449	ACG		0.488	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1		
CLEC4D	338339	hgsc.bcm.edu	37	12	8672850	8672850	+	Missense_Mutation	SNP	G	G	A	rs145637294	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:8672850G>A	ENST00000299665.2	+	5	606	c.413G>A	c.(412-414)cGg>cAg	p.R138Q		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	138	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.R138Q(1)		large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					CTGGATAGACGGCTTTCCTAT	0.388													G|||	2	0.000399361	0.0015	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0				p.R138Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G413A	12						.	G	GLN/ARG	14,4392	22.3+/-47.3	0,14,2189	94.0	96.0	95.0		413	-5.0	0.0	12	dbSNP_134	95	0,8600		0,0,4300	yes	missense	CLEC4D	NM_080387.4	43	0,14,6489	AA,AG,GG		0.0,0.3177,0.1076	benign	138/216	8672850	14,12992	2203	4300	6503	8564117	SO:0001583	missense	338339	exon5			AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"""C-type lectin domain containing"""	14554	protein-coding gene	gene with protein product		609964	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"""	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.413G>A	12.37:g.8672850G>A	ENSP00000299665:p.Arg138Gln		8564117	NM_080387	Q8N5J5	Missense_Mutation	SNP	ENST00000299665.2	37	CCDS8593.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.029	-1.348320	0.01266	0.003177	0.0	ENSG00000166527	ENST00000382064;ENST00000299665	T;T	0.17528	2.27;2.27	4.82	-4.99	0.03010	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.08537	0.0212	L	0.28274	0.84	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.44128	-0.9348	9	0.10377	T	0.69	.	7.4375	0.27164	0.6542:0.0:0.2132:0.1326	.	138	Q8WXI8	CLC4D_HUMAN	Q	138	ENSP00000371496:R138Q;ENSP00000299665:R138Q	ENSP00000299665:R138Q	R	+	2	0	CLEC4D	8564117	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.957000	0.03861	-0.946000	0.03677	-0.163000	0.13421	CGG		0.388	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400565.1	NM_080387	
PHC1	1911	hgsc.bcm.edu	37	12	9074344	9074344	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:9074344C>T	ENST00000543824.1	+	6	786	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	PHC1_ENST00000544916.1_Missense_Mutation_p.R152W|PHC1_ENST00000536844.1_5'UTR|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000433083.2_Missense_Mutation_p.R115W			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	152					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R152W(1)		breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						GATGTATCTACGGGTAAGCCA	0.527																																					p.R152W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C454T	12						.						95.0	92.0	93.0					12																	9074344		2203	4300	6503	8965611	SO:0001583	missense	1911	exon5			U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.454C>T	12.37:g.9074344C>T	ENSP00000440674:p.Arg152Trp		8965611	NM_004426	D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	ENST00000543824.1	37	CCDS8597.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701140	0.88924	.	.	ENSG00000111752	ENST00000538657;ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000544539	T;T;T;T	0.57907	0.37;0.37;0.68;0.37	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000006	T	0.71567	0.3355	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.992;0.993;0.993	T	0.73754	-0.3883	10	0.87932	D	0	-34.5932	18.9589	0.92670	0.0:1.0:0.0:0.0	.	152;152;152	B4DF21;P78364;B2RXH1	.;PHC1_HUMAN;.	W	152;152;152;115;152;152	ENSP00000440674:R152W;ENSP00000251757:R152W;ENSP00000399194:R115W;ENSP00000437659:R152W	ENSP00000251757:R152W	R	+	1	2	PHC1	8965611	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.202000	0.65169	2.570000	0.86706	0.655000	0.94253	CGG		0.527	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426	
ART4	420	hgsc.bcm.edu	37	12	14993578	14993578	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:14993578C>A	ENST00000228936.4	-	2	1035	c.654G>T	c.(652-654)caG>caT	p.Q218H	C12orf60_ENST00000527783.1_Intron|RP11-233G1.4_ENST00000444324.2_RNA	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)	218					arginine metabolic process (GO:0006525)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)	p.Q218H(1)		large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						TCCCAAACTCCTGTGCCTCTT	0.493																																					p.Q218H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G654T	12						.						107.0	107.0	107.0					12																	14993578		2203	4300	6503	14884845	SO:0001583	missense	420	exon2			X95826	CCDS8668.1	12q13.2-q13.3	2014-07-18	2014-01-02	2006-01-12	ENSG00000111339	ENSG00000111339		"""CD molecules"", ""Blood group antigens"""	726	protein-coding gene	gene with protein product		110600	"""Dombrock blood group"", ""ADP-ribosyltransferase 4 (DO blood group)"", ""ADP-ribosyltransferase 4"""	DO		9119374	Standard	NM_021071		Approved	DOK1, CD297	uc001rcl.1	Q93070	OTTHUMG00000168738	ENST00000228936.4:c.654G>T	12.37:g.14993578C>A	ENSP00000228936:p.Gln218His		14884845	NM_021071	Q9BZ50|Q9BZ51|Q9HB06	Missense_Mutation	SNP	ENST00000228936.4	37	CCDS8668.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.440425	0.25900	.	.	ENSG00000111339	ENST00000228936;ENST00000420600	T;T	0.08896	3.04;3.04	4.35	0.42	0.16444	.	0.630811	0.17117	N	0.186397	T	0.20618	0.0496	M	0.69523	2.12	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.03969	-1.0988	10	0.59425	D	0.04	-13.8879	5.1569	0.15040	0.0:0.5742:0.1539:0.2719	.	218;218	A8K6J7;Q93070	.;NAR4_HUMAN	H	218;201	ENSP00000228936:Q218H;ENSP00000405689:Q201H	ENSP00000228936:Q218H	Q	-	3	2	ART4	14884845	0.730000	0.28100	0.034000	0.17996	0.426000	0.31534	1.184000	0.32053	0.075000	0.16796	-0.251000	0.11542	CAG		0.493	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400859.1	NM_021071	
IPO8	10526	hgsc.bcm.edu	37	12	30837332	30837332	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:30837332C>T	ENST00000256079.4	-	3	564	c.226G>A	c.(226-228)Gga>Aga	p.G76R	IPO8_ENST00000538338.1_5'Flank	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	76	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)	p.G76R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ATTGCTTCTCCTGGTGGAGGT	0.413																																					p.G76R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G226A	12						.						281.0	241.0	254.0					12																	30837332		2203	4300	6503	30728599	SO:0001583	missense	10526	exon3			U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.226G>A	12.37:g.30837332C>T	ENSP00000256079:p.Gly76Arg		30728599	NM_006390	B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551351	0.65311	.	.	ENSG00000133704	ENST00000256079;ENST00000535989;ENST00000543446;ENST00000358724	T;T	0.44083	1.79;0.93	3.71	2.81	0.32909	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.47060	0.1425	M	0.70275	2.135	0.80722	D	1	B	0.26081	0.141	B	0.37451	0.25	T	0.48281	-0.9049	10	0.37606	T	0.19	-18.3901	12.1586	0.54091	0.0:0.9139:0.0:0.0861	.	76	O15397	IPO8_HUMAN	R	76;14;53;14	ENSP00000256079:G76R;ENSP00000440979:G14R	ENSP00000256079:G76R	G	-	1	0	IPO8	30728599	0.982000	0.34865	0.767000	0.31495	0.993000	0.82548	2.860000	0.48372	1.141000	0.42275	0.585000	0.79938	GGA		0.413	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390	
ABCD2	225	hgsc.bcm.edu	37	12	40001448	40001448	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:40001448C>T	ENST00000308666.3	-	3	1324	c.1189G>A	c.(1189-1191)Gcc>Acc	p.A397T		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	397	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.A397T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						GCTCCAGAGGCCAGTAAATTT	0.333																																					p.A397T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1189A	12						.						97.0	101.0	100.0					12																	40001448		2203	4300	6503	38287715	SO:0001583	missense	225	exon3			U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.1189G>A	12.37:g.40001448C>T	ENSP00000310688:p.Ala397Thr		38287715	NM_005164	B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.277562	0.40294	.	.	ENSG00000173208	ENST00000308666	D	0.96459	-4.02	5.4	5.4	0.78164	.	0.312918	0.34200	N	0.004180	D	0.88511	0.6456	N	0.03608	-0.345	0.32904	D	0.513584	B	0.06786	0.001	B	0.09377	0.004	D	0.85460	0.1166	9	.	.	.	-13.3739	12.9663	0.58485	0.0:0.9163:0.0:0.0837	.	397	Q9UBJ2	ABCD2_HUMAN	T	397	ENSP00000310688:A397T	.	A	-	1	0	ABCD2	38287715	1.000000	0.71417	0.980000	0.43619	0.986000	0.74619	3.060000	0.49955	2.536000	0.85505	0.563000	0.77884	GCC		0.333	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164	
SPATS2	65244	hgsc.bcm.edu	37	12	49883261	49883261	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:49883261G>A	ENST00000553127.1	+	6	632	c.119G>A	c.(118-120)cGt>cAt	p.R40H	SPATS2_ENST00000321898.6_Missense_Mutation_p.R40H|SPATS2_ENST00000552918.1_Missense_Mutation_p.R40H			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	40						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.R40H(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						AATGCGGTACGTGCAATAGTT	0.378																																					p.R40H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G119A	12						.						110.0	96.0	101.0					12																	49883261		2203	4300	6503	48169528	SO:0001583	missense	65244	exon5			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.119G>A	12.37:g.49883261G>A	ENSP00000448228:p.Arg40His		48169528	NM_023071	A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Missense_Mutation	SNP	ENST00000553127.1	37	CCDS31794.1	.	.	.	.	.	.	.	.	.	.	G	33	5.246304	0.95305	.	.	ENSG00000123352	ENST00000550997;ENST00000549538;ENST00000548710;ENST00000553127;ENST00000321898;ENST00000551540;ENST00000552918;ENST00000395063	.	.	.	5.41	5.41	0.78517	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.76449	0.3989	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	T	0.77953	-0.2394	9	0.87932	D	0	-10.0028	16.7384	0.85453	0.0:0.0:1.0:0.0	.	40	Q86XZ4	SPAS2_HUMAN	H	40	.	ENSP00000326841:R40H	R	+	2	0	SPATS2	48169528	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.979000	0.93455	2.812000	0.96745	0.557000	0.71058	CGT		0.378	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1	NM_023071	
AQP6	363	hgsc.bcm.edu	37	12	50366981	50366981	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:50366981C>T	ENST00000315520.5	+	1	362	c.25C>T	c.(25-27)Cgt>Tgt	p.R9C	AQP6_ENST00000551733.1_Intron	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	9					anion transport (GO:0006820)|excretion (GO:0007588)|odontogenesis (GO:0042476)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	integral component of plasma membrane (GO:0005887)|transport vesicle membrane (GO:0030658)	anion channel activity (GO:0005253)|water channel activity (GO:0015250)	p.R9C(1)		endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						GCCAGGGGGACGTGGCTGGGC	0.602																																					p.R9C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C25T	12						.						81.0	74.0	76.0					12																	50366981		2203	4300	6503	48653248	SO:0001583	missense	363	exon1			AL137716	CCDS31798.1	12q13	2005-09-20			ENSG00000086159	ENSG00000086159		"""Ion channels / Aquaporins"""	639	protein-coding gene	gene with protein product		601383		AQP2L		8812490	Standard	XM_006719375		Approved		uc001rvr.1	Q13520	OTTHUMG00000133548	ENST00000315520.5:c.25C>T	12.37:g.50366981C>T	ENSP00000320247:p.Arg9Cys		48653248	NM_001652		Missense_Mutation	SNP	ENST00000315520.5	37	CCDS31798.1	.	.	.	.	.	.	.	.	.	.	C	8.192	0.796208	0.16327	.	.	ENSG00000086159	ENST00000315520	D	0.87256	-2.23	4.52	-9.04	0.00734	.	2.724190	0.01207	N	0.007741	T	0.69396	0.3106	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.65051	-0.6262	10	0.41790	T	0.15	-6.469	8.5554	0.33478	0.1633:0.2258:0.0:0.6109	.	9	Q13520	AQP6_HUMAN	C	9	ENSP00000320247:R9C	ENSP00000320247:R9C	R	+	1	0	AQP6	48653248	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.409000	0.01041	-2.969000	0.00287	-2.388000	0.00228	CGT		0.602	AQP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257528.2	NM_001652, NM_053286	
KRT84	3890	hgsc.bcm.edu	37	12	52779026	52779026	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:52779026T>C	ENST00000257951.3	-	1	410	c.344A>G	c.(343-345)tAt>tGt	p.Y115C	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	115	Head.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)	p.Y115C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ACCAAAGCCATAGCCAATGCC	0.577																																					p.Y115C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A344G	12						.						179.0	170.0	173.0					12																	52779026		2203	4300	6503	51065293	SO:0001583	missense	3890	exon1			Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.344A>G	12.37:g.52779026T>C	ENSP00000257951:p.Tyr115Cys		51065293	NM_033045	B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	T	9.490	1.100423	0.20552	.	.	ENSG00000161849	ENST00000257951	D	0.93604	-3.25	5.15	2.76	0.32466	.	0.485871	0.17627	N	0.167536	D	0.86360	0.5914	L	0.28400	0.85	0.23572	N	0.997382	B	0.18013	0.025	B	0.09377	0.004	T	0.75797	-0.3191	10	0.45353	T	0.12	.	5.8382	0.18619	0.1474:0.0779:0.0:0.7747	.	115	Q9NSB2	KRT84_HUMAN	C	115	ENSP00000257951:Y115C	ENSP00000257951:Y115C	Y	-	2	0	KRT84	51065293	0.001000	0.12720	0.974000	0.42286	0.592000	0.36648	0.050000	0.14120	0.502000	0.28037	0.496000	0.49642	TAT		0.577	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045	
KRT6A	3853	hgsc.bcm.edu	37	12	52886494	52886494	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:52886494C>T	ENST00000330722.6	-	1	547	c.479G>A	c.(478-480)cGg>cAg	p.R160Q		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	160	Head.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.R160Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTCCTCAGCCCGCACCCGCTG	0.587																																					p.R160Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G479A	12						.						167.0	155.0	159.0					12																	52886494		2203	4300	6503	51172761	SO:0001583	missense	3853	exon1			BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.479G>A	12.37:g.52886494C>T	ENSP00000369317:p.Arg160Gln		51172761	NM_005554	A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331881	0.81801	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.85556	-2.0	5.31	2.44	0.29823	.	0.089287	0.44902	D	0.000418	D	0.89891	0.6846	M	0.94063	3.49	0.36885	D	0.889576	D	0.65815	0.995	P	0.48552	0.581	D	0.92540	0.6041	10	0.87932	D	0	.	11.5528	0.50731	0.0:0.7919:0.0:0.2081	.	160	P02538	K2C6A_HUMAN	Q	160;116	ENSP00000369317:R160Q	ENSP00000369317:R160Q	R	-	2	0	KRT6A	51172761	1.000000	0.71417	0.954000	0.39281	0.850000	0.48378	1.951000	0.40333	0.735000	0.32537	0.650000	0.86243	CGG		0.587	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554	
SPRYD3	84926	hgsc.bcm.edu	37	12	53460470	53460470	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:53460470C>A	ENST00000301463.4	-	9	994	c.908G>T	c.(907-909)gGg>gTg	p.G303V	SPRYD3_ENST00000547837.1_Missense_Mutation_p.G340V	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	303								p.G303V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GAAGATCTTCCCATCGTCTGT	0.567																																					p.G303V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G908T	12						.						94.0	81.0	85.0					12																	53460470		2203	4300	6503	51746737	SO:0001583	missense	84926	exon9			AK074694	CCDS8845.1	12q13.13	2006-11-29		2006-02-02		ENSG00000167778			25920	protein-coding gene	gene with protein product						14702039	Standard	NM_032840		Approved	FLJ14800	uc001sbt.2	Q8NCJ5	OTTHUMG00000170101	ENST00000301463.4:c.908G>T	12.37:g.53460470C>A	ENSP00000301463:p.Gly303Val		51746737	NM_032840	B9EG99|Q96SK5	Missense_Mutation	SNP	ENST00000301463.4	37	CCDS8845.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740745	0.89573	.	.	ENSG00000167778	ENST00000301463;ENST00000547837	T;T	0.17213	2.29;2.29	5.15	5.15	0.70609	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);SPla/RYanodine receptor SPRY (1);	0.054505	0.64402	D	0.000001	T	0.52517	0.1739	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64483	-0.6397	10	0.87932	D	0	-6.9073	16.4936	0.84208	0.0:1.0:0.0:0.0	.	303	Q8NCJ5	SPRY3_HUMAN	V	303;340	ENSP00000301463:G303V;ENSP00000449452:G340V	ENSP00000301463:G303V	G	-	2	0	SPRYD3	51746737	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.445000	0.80570	2.573000	0.86826	0.655000	0.94253	GGG		0.567	SPRYD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407264.1	NM_032840	
RARG	5916	hgsc.bcm.edu	37	12	53621266	53621266	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:53621266C>A	ENST00000425354.2	-	3	551	c.64G>T	c.(64-66)Ggg>Tgg	p.G22W	RARG_ENST00000327550.3_Intron|RARG_ENST00000394426.1_Missense_Mutation_p.G22W|RARG_ENST00000543762.1_Intron	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	22	Modulating.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.G22W(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	AAACCTGCCCCTGGGTAGCCA	0.667																																					p.G22W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G64T	12						.						32.0	34.0	33.0					12																	53621266		2203	4299	6502	51907533	SO:0001583	missense	5916	exon3			M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.64G>T	12.37:g.53621266C>A	ENSP00000388510:p.Gly22Trp		51907533	NM_000966	B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.419788	0.42918	.	.	ENSG00000172819	ENST00000425354;ENST00000394426	D;D	0.91843	-2.92;-2.92	4.85	4.85	0.62838	.	0.309839	0.29806	N	0.011148	D	0.83894	0.5353	N	0.08118	0	0.80722	D	1	D	0.56746	0.977	B	0.43082	0.407	D	0.86446	0.1770	10	0.54805	T	0.06	.	13.68	0.62479	0.0:1.0:0.0:0.0	.	22	P13631	RARG_HUMAN	W	22	ENSP00000388510:G22W;ENSP00000377947:G22W	ENSP00000377947:G22W	G	-	1	0	RARG	51907533	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.138000	0.42140	2.700000	0.92200	0.462000	0.41574	GGG		0.667	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966	
ESPL1	9700	hgsc.bcm.edu	37	12	53671709	53671709	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:53671709C>T	ENST00000257934.4	+	11	2420	c.2329C>T	c.(2329-2331)Cag>Tag	p.Q777*	ESPL1_ENST00000552462.1_Nonsense_Mutation_p.Q777*	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	777					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)	p.Q777*(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						AGCCTCACTGCAGATCCTAGC	0.587																																					p.Q777X	Colon(53;1069 1201 2587 5382)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2329T	12						.						65.0	66.0	66.0					12																	53671709		2203	4300	6503	51957976	SO:0001587	stop_gained	9700	exon11			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.2329C>T	12.37:g.53671709C>T	ENSP00000257934:p.Gln777*		51957976	NM_012291		Nonsense_Mutation	SNP	ENST00000257934.4	37	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	39	7.705112	0.98444	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	.	.	.	4.83	4.83	0.62350	.	0.314786	0.35677	N	0.003051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	16.8534	0.86000	0.0:1.0:0.0:0.0	.	.	.	.	X	777;452;777	.	ENSP00000257934:Q777X	Q	+	1	0	ESPL1	51957976	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.991000	0.49409	2.504000	0.84457	0.655000	0.94253	CAG		0.587	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291	
HOXC13	3229	hgsc.bcm.edu	37	12	54339019	54339019	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:54339019G>A	ENST00000243056.3	+	2	1128	c.972G>A	c.(970-972)gcG>gcA	p.A324A		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	324					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|hair follicle development (GO:0001942)|nail development (GO:0035878)|tongue morphogenesis (GO:0043587)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.A324A(1)		breast(1)|large_intestine(1)|skin(1)	3						AATCGAAAGCGCCTCATCTCC	0.582			T	NUP98	AML																																p.A324A			Dom	yes		12	12q13.3	3229	homeo box C13		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G972A	12						.						71.0	71.0	71.0					12																	54339019		2203	4300	6503	52625286	SO:0001819	synonymous_variant	3229	exon2				CCDS8865.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123364	ENSG00000123364		"""Homeoboxes / ANTP class : HOXL subclass"""	5125	protein-coding gene	gene with protein product		142976	"""homeo box C13"""	HOX3, HOX3G		1973146, 1358459	Standard	NM_017410		Approved		uc001sei.3	P31276	OTTHUMG00000160008	ENST00000243056.3:c.972G>A	12.37:g.54339019G>A			52625286	NM_017410	Q5BL02|Q96J32|Q9NR24|Q9NYD5	Silent	SNP	ENST00000243056.3	37	CCDS8865.1																																																																																				0.582	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358865.2		
SMARCC2	6601	hgsc.bcm.edu	37	12	56563984	56563984	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:56563984C>A	ENST00000267064.4	-	22	2349	c.2263G>T	c.(2263-2265)Ggg>Tgg	p.G755W	SMARCC2_ENST00000394023.3_Missense_Mutation_p.G786W|SMARCC2_ENST00000550164.1_Missense_Mutation_p.G786W|SMARCC2_ENST00000347471.4_Missense_Mutation_p.G786W|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	755	Glu-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.G755W(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TCGTCATTCCCGCTCTCCTCT	0.493																																					p.G786W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2356T	12						.						77.0	67.0	70.0					12																	56563984		2203	4300	6503	54850251	SO:0001583	missense	6601	exon23			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.2263G>T	12.37:g.56563984C>A	ENSP00000267064:p.Gly755Trp		54850251	NM_139067	F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432054	0.25813	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.49432	1.09;0.78;0.8;0.81	4.96	3.14	0.36123	.	0.511880	0.17721	N	0.164251	T	0.42653	0.1212	L	0.36672	1.1	0.38246	D	0.941476	D;D;D;D;D	0.62365	0.973;0.991;0.985;0.985;0.991	B;P;B;P;P	0.51516	0.387;0.591;0.387;0.672;0.591	T	0.45527	-0.9255	10	0.87932	D	0	-2.9942	4.0451	0.09770	0.1648:0.5746:0.0:0.2606	.	675;786;790;755;786	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	W	786;786;786;755	ENSP00000377591:G786W;ENSP00000449396:G786W;ENSP00000302919:G786W;ENSP00000267064:G755W	ENSP00000267064:G755W	G	-	1	0	SMARCC2	54850251	0.882000	0.30256	0.913000	0.36048	0.075000	0.17131	0.790000	0.26900	0.618000	0.30179	-0.237000	0.12165	GGG		0.493	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1		
LRP1	4035	hgsc.bcm.edu	37	12	57596260	57596260	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:57596260G>A	ENST00000243077.3	+	68	11117	c.10651G>A	c.(10651-10653)Ggc>Agc	p.G3551S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3551	LDL-receptor class A 26. {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.G3551S(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)	CTGCGTGCCCGGCCGCTGGCA	0.632																																					p.G3551S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10651A	12						.						78.0	63.0	68.0					12																	57596260		2203	4300	6503	55882527	SO:0001583	missense	4035	exon68			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.10651G>A	12.37:g.57596260G>A	ENSP00000243077:p.Gly3551Ser		55882527	NM_002332	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770340	0.69992	.	.	ENSG00000123384	ENST00000243077;ENST00000555124	D;D	0.95137	-3.62;-3.62	4.8	4.8	0.61643	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.077228	0.51477	D	0.000096	D	0.91452	0.7302	N	0.02876	-0.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88080	0.2806	10	0.08381	T	0.77	.	16.8682	0.86034	0.0:0.0:1.0:0.0	.	3551	Q07954	LRP1_HUMAN	S	3551;132	ENSP00000243077:G3551S;ENSP00000451012:G132S	ENSP00000243077:G3551S	G	+	1	0	LRP1	55882527	1.000000	0.71417	0.966000	0.40874	0.957000	0.61999	7.780000	0.85658	2.511000	0.84671	0.650000	0.86243	GGC		0.632	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
MON2	23041	hgsc.bcm.edu	37	12	62954440	62954440	+	Silent	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:62954440A>G	ENST00000393632.2	+	26	3970	c.3579A>G	c.(3577-3579)gtA>gtG	p.V1193V	MON2_ENST00000393629.2_Silent_p.V1193V|MON2_ENST00000546600.1_Silent_p.V1193V|MON2_ENST00000280379.6_Silent_p.V1194V|MON2_ENST00000552738.1_Silent_p.V1170V|MON2_ENST00000393630.3_Silent_p.V1194V	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1193					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.V1193V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TAGTTAATGTACCTGTGCCTG	0.443																																					p.V1193V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A3579G	12						.						90.0	84.0	86.0					12																	62954440		2203	4300	6503	61240707	SO:0001819	synonymous_variant	23041	exon26				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.3579A>G	12.37:g.62954440A>G			61240707	NM_015026	A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Silent	SNP	ENST00000393632.2	37	CCDS31849.1																																																																																				0.443	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026	
TMEM5	10329	hgsc.bcm.edu	37	12	64202740	64202740	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:64202740A>C	ENST00000261234.6	+	6	1358	c.1200A>C	c.(1198-1200)aaA>aaC	p.K400N	TMEM5_ENST00000537373.1_Missense_Mutation_p.K140N|TMEM5-AS1_ENST00000546214.1_RNA	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	400						integral component of plasma membrane (GO:0005887)		p.K400N(1)		breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		AAAAAGAGAAAACTATAATTT	0.353																																					p.K400N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1200C	12						.						38.0	41.0	40.0					12																	64202740		2202	4300	6502	62489007	SO:0001583	missense	10329	exon6			AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.1200A>C	12.37:g.64202740A>C	ENSP00000261234:p.Lys400Asn		62489007	NM_014254	A8K017|Q6PKD6	Missense_Mutation	SNP	ENST00000261234.6	37	CCDS8966.1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.328085	0.60743	.	.	ENSG00000118600	ENST00000261234;ENST00000537373	.	.	.	4.96	-0.622	0.11560	.	0.090141	0.85682	D	0.000000	T	0.65407	0.2688	M	0.68317	2.08	0.36195	D	0.850342	D;D	0.67145	0.996;0.996	P;P	0.62184	0.865;0.899	T	0.67914	-0.5547	8	.	.	.	-17.2141	9.5465	0.39284	0.6966:0.0:0.3033:0.0	.	140;400	G3V1K2;Q9Y2B1	.;TMEM5_HUMAN	N	400;140	.	.	K	+	3	2	TMEM5	62489007	0.997000	0.39634	0.345000	0.25642	0.993000	0.82548	0.776000	0.26704	-0.170000	0.10816	0.459000	0.35465	AAA		0.353	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400821.1	NM_014254	
TBK1	29110	hgsc.bcm.edu	37	12	64878159	64878159	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:64878159C>T	ENST00000331710.5	+	9	1408	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	357	Ubiquitin-like.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|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)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R357*(2)		breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		CTACGAAGGGCGACGCTTAGT	0.373																																					p.R357X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1069T	12						.						59.0	60.0	60.0					12																	64878159		2203	4300	6503	63164426	SO:0001587	stop_gained	29110	exon9			AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.1069C>T	12.37:g.64878159C>T	ENSP00000329967:p.Arg357*		63164426	NM_013254	A8K4S4|Q8IYV3|Q9NUJ5	Nonsense_Mutation	SNP	ENST00000331710.5	37	CCDS8968.1	.	.	.	.	.	.	.	.	.	.	C	38	6.765822	0.97821	.	.	ENSG00000183735	ENST00000331710	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.3105	14.215	0.65788	0.1497:0.8503:0.0:0.0	.	.	.	.	X	357	.	.	R	+	1	2	TBK1	63164426	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	4.639000	0.61361	2.740000	0.93945	0.563000	0.77884	CGA		0.373	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254	
HELB	92797	hgsc.bcm.edu	37	12	66718866	66718866	+	Missense_Mutation	SNP	G	G	A	rs368474548		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:66718866G>A	ENST00000247815.4	+	11	2689	c.2630G>A	c.(2629-2631)cGc>cAc	p.R877H		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	877					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)	p.R877H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AAATATTGTCGCATAAAACAT	0.348																																					p.R877H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2630A	12						.	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	115.0	114.0	114.0		2630	-3.3	0.2	12		114	0,8600		0,0,4300	no	missense	HELB	NM_033647.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	877/1088	66718866	1,13005	2203	4300	6503	65005133	SO:0001583	missense	92797	exon11			AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.2630G>A	12.37:g.66718866G>A	ENSP00000247815:p.Arg877His		65005133	NM_033647	A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	G	2.809	-0.247428	0.05867	2.27E-4	0.0	ENSG00000127311	ENST00000247815	T	0.11712	2.75	5.42	-3.33	0.04958	.	0.759552	0.12740	N	0.443134	T	0.02533	0.0077	N	0.01109	-1.01	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47302	-0.9128	9	.	.	.	-0.8226	7.9177	0.29827	0.4623:0.0:0.4394:0.0983	.	877	Q8NG08	HELB_HUMAN	H	877	ENSP00000247815:R877H	.	R	+	2	0	HELB	65005133	0.013000	0.17824	0.156000	0.22583	0.121000	0.20230	0.238000	0.18004	-0.390000	0.07774	-0.874000	0.02982	CGC		0.348	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1		
HELB	92797	hgsc.bcm.edu	37	12	66725318	66725318	+	Silent	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:66725318T>C	ENST00000247815.4	+	12	3114	c.3055T>C	c.(3055-3057)Tta>Cta	p.L1019L		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	1019					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)	p.L1019L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AAGATGGCAATTATCTTCACC	0.458																																					p.L1019L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3055C	12						.						86.0	75.0	79.0					12																	66725318		2203	4300	6503	65011585	SO:0001819	synonymous_variant	92797	exon12			AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.3055T>C	12.37:g.66725318T>C			65011585	NM_033647	A8K4C9|Q4G0T2|Q9H7L5	Silent	SNP	ENST00000247815.4	37	CCDS8976.1																																																																																				0.458	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1		
CSRP2	1466	hgsc.bcm.edu	37	12	77260009	77260009	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:77260009C>A	ENST00000311083.5	-	2	155	c.32G>T	c.(31-33)gGg>gTg	p.G11V	CSRP2_ENST00000547435.1_Missense_Mutation_p.G11V|CSRP2_ENST00000552330.1_Missense_Mutation_p.G11V|CSRP2_ENST00000546966.1_Missense_Mutation_p.G11V	NM_001321.1	NP_001312.1	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2	11	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.G11V(1)		kidney(1)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)	8						CCCACAGGCCCCACACTTGTT	0.537																																					p.G11V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G32T	12						.						112.0	85.0	94.0					12																	77260009		2203	4300	6503	75784140	SO:0001583	missense	1466	exon2			BC000992	CCDS9015.1	12q21.1	2005-10-30				ENSG00000175183			2470	protein-coding gene	gene with protein product		601871				7499425, 9286703	Standard	XM_006719258		Approved	SmLIM, CRP2, LMO5	uc001syl.1	Q16527		ENST00000311083.5:c.32G>T	12.37:g.77260009C>A	ENSP00000310901:p.Gly11Val		75784140	NM_001321	Q93030	Missense_Mutation	SNP	ENST00000311083.5	37	CCDS9015.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243137	0.79912	.	.	ENSG00000175183	ENST00000311083;ENST00000552330;ENST00000546966;ENST00000547435	D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78	5.12	5.12	0.69794	Zinc finger, LIM-type (5);	0.161023	0.53938	D	0.000046	D	0.92708	0.7682	L	0.43554	1.36	0.80722	D	1	P	0.36837	0.571	P	0.53649	0.731	D	0.91908	0.5537	10	0.45353	T	0.12	.	18.9377	0.92592	0.0:1.0:0.0:0.0	.	11	Q16527	CSRP2_HUMAN	V	11	ENSP00000310901:G11V;ENSP00000449824:G11V;ENSP00000450056:G11V;ENSP00000450143:G11V	ENSP00000310901:G11V	G	-	2	0	CSRP2	75784140	0.493000	0.26035	1.000000	0.80357	0.997000	0.91878	1.949000	0.40313	2.546000	0.85860	0.650000	0.86243	GGG		0.537	CSRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406572.1	NM_001321	
E2F7	144455	hgsc.bcm.edu	37	12	77427679	77427679	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:77427679T>A	ENST00000322886.7	-	8	1502	c.1267A>T	c.(1267-1269)Aaa>Taa	p.K423*	E2F7_ENST00000416496.2_Nonsense_Mutation_p.K423*	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	423					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.K423*(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GAGTTCACTTTCCTCTGGATC	0.473																																					p.K423X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.A1267T	12						.						148.0	129.0	135.0					12																	77427679		2203	4300	6503	75951810	SO:0001587	stop_gained	144455	exon8			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.1267A>T	12.37:g.77427679T>A	ENSP00000323246:p.Lys423*		75951810	NM_203394	A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Nonsense_Mutation	SNP	ENST00000322886.7	37	CCDS9016.1	.	.	.	.	.	.	.	.	.	.	T	39	7.329102	0.98214	.	.	ENSG00000165891	ENST00000322886;ENST00000416496;ENST00000550669	.	.	.	6.17	6.17	0.99709	.	0.147028	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.3528	16.0034	0.80327	0.0:0.0:0.0:1.0	.	.	.	.	X	423	.	ENSP00000323246:K423X	K	-	1	0	E2F7	75951810	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.895000	0.48648	2.371000	0.80710	0.533000	0.62120	AAA		0.473	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871	
BTG1	694	hgsc.bcm.edu	37	12	92537962	92537962	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:92537962C>T	ENST00000256015.3	-	2	771	c.410G>A	c.(409-411)aGc>aAc	p.S137N	C12orf79_ENST00000551563.2_5'Flank|C12orf79_ENST00000549802.1_5'Flank|C12orf79_ENST00000546975.1_5'Flank|RP11-796E2.4_ENST00000499685.2_RNA|C12orf79_ENST00000551843.1_5'Flank|RP11-796E2.4_ENST00000501008.2_RNA	NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	137					cell migration (GO:0016477)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of myoblast differentiation (GO:0045663)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|transcription cofactor activity (GO:0003712)	p.S137N(1)		haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				CACGTTGGTGCTGTTTTGAGT	0.488			T	MYC	BCLL						OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S137N			Dom	yes		12	12q22	694	"""B-cell translocation gene 1, anti-proliferative"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G410A	12						.						110.0	94.0	100.0					12																	92537962		2203	4300	6503	91062093	SO:0001583	missense	694	exon2				CCDS9043.1	12q21.33	2012-10-02			ENSG00000133639	ENSG00000133639			1130	protein-coding gene	gene with protein product		109580				15033446	Standard	NM_001731		Approved		uc001tby.3	P62324	OTTHUMG00000170092	ENST00000256015.3:c.410G>A	12.37:g.92537962C>T	ENSP00000256015:p.Ser137Asn	1291	91062093	NM_001731	P31607	Missense_Mutation	SNP	ENST00000256015.3	37	CCDS9043.1	.	.	.	.	.	.	.	.	.	.	C	6.201	0.405168	0.11754	.	.	ENSG00000133639	ENST00000256015;ENST00000552315	T;T	0.32272	1.86;1.46	5.8	4.91	0.64330	.	0.365120	0.34460	N	0.003951	T	0.26085	0.0636	L	0.40543	1.245	0.42234	D	0.991906	B	0.02656	0.0	B	0.04013	0.001	T	0.04229	-1.0967	10	0.45353	T	0.12	-3.6616	11.7448	0.51813	0.0:0.8476:0.0:0.1524	.	137	P62324	BTG1_HUMAN	N	137;62	ENSP00000256015:S137N;ENSP00000447551:S62N	ENSP00000256015:S137N	S	-	2	0	BTG1	91062093	1.000000	0.71417	1.000000	0.80357	0.208000	0.24298	2.680000	0.46918	1.448000	0.47680	0.650000	0.86243	AGC		0.488	BTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407227.1		
USP44	84101	hgsc.bcm.edu	37	12	95907611	95907611	+	IGR	SNP	G	G	A	rs112506052	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:95907611G>A	ENST00000258499.3	-	0	4022				METAP2_ENST00000323666.5_Silent_p.A456A|METAP2_ENST00000550777.1_Silent_p.A420A|METAP2_ENST00000261220.9_Silent_p.A433A|METAP2_ENST00000551840.1_Silent_p.A455A|METAP2_ENST00000546753.1_Silent_p.A433A	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44						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.A456A(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						CATATACAGCGCAATTTGAAC	0.398													G|||	13	0.00259585	0.0061	0.0	5008	,	,		19731	0.005		0.0	False		,,,				2504	0.0				p.A456A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1368A	12						.	G		16,4390	23.3+/-48.9	0,16,2187	165.0	144.0	151.0		1368	-9.1	0.7	12	dbSNP_132	151	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	METAP2	NM_006838.3		0,17,6486	AA,AG,GG		0.0116,0.3631,0.1307		456/479	95907611	17,12989	2203	4300	6503	94431742	SO:0001628	intergenic_variant	10988	exon11			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			12.37:g.95907611G>A			94431742	NM_006838	B2RDW3	Silent	SNP	ENST00000258499.3	37	CCDS9053.1																																																																																				0.398	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147	
TMPO	7112	hgsc.bcm.edu	37	12	98927765	98927765	+	Intron	SNP	C	C	G	rs34150443	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:98927765C>G	ENST00000556029.1	+	3	921				TMPO_ENST00000261210.5_Intron|TMPO_ENST00000266732.4_Missense_Mutation_p.A577G|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000393053.2_Intron	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)	p.A577G(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GAAGCTGCAGCATCAGCATTG	0.473																																					p.A577G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1730G	12						.						85.0	70.0	75.0					12																	98927765		2203	4300	6503	97451896	SO:0001627	intron_variant	7112	exon4				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.565+2149C>G	12.37:g.98927765C>G			97451896	NM_003276	A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.732877	0.69189	.	.	ENSG00000120802	ENST00000266732	T	0.62105	0.05	5.96	5.96	0.96718	.	0.253571	0.35495	N	0.003168	T	0.68778	0.3038	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71447	-0.4590	10	0.72032	D	0.01	.	15.9221	0.79583	0.0:1.0:0.0:0.0	.	577	P42166	LAP2A_HUMAN	G	577	ENSP00000266732:A577G	ENSP00000266732:A577G	A	+	2	0	TMPO	97451896	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.549000	0.53681	2.832000	0.97577	0.655000	0.94253	GCA		0.473	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276	
IKBIP	121457	hgsc.bcm.edu	37	12	99007985	99007985	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:99007985T>C	ENST00000342502.2	-	3	842	c.431A>G	c.(430-432)aAc>aGc	p.N144S	IKBIP_ENST00000420861.1_Missense_Mutation_p.N38S|IKBIP_ENST00000393042.3_3'UTR	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	144					response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.N144S(1)		NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						CAGACTGTTGTTCAGTATATC	0.348																																					p.N144S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A431G	12						.						125.0	114.0	117.0					12																	99007985		2203	4299	6502	97532116	SO:0001583	missense	121457	exon3			AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.431A>G	12.37:g.99007985T>C	ENSP00000343471:p.Asn144Ser		97532116	NM_201612	Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	ENST00000342502.2	37	CCDS9067.1	.	.	.	.	.	.	.	.	.	.	T	0.346	-0.947865	0.02304	.	.	ENSG00000166130	ENST00000342502;ENST00000420861	T;T	0.43294	1.06;0.95	5.76	3.46	0.39613	.	.	.	.	.	T	0.25865	0.0630	N	0.21097	0.63	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.20638	-1.0269	9	0.11182	T	0.66	.	9.4968	0.38993	0.0:0.1412:0.0:0.8588	.	144	Q70UQ0	IKIP_HUMAN	S	144;38	ENSP00000343471:N144S;ENSP00000398023:N38S	ENSP00000343471:N144S	N	-	2	0	IKBIP	97532116	0.808000	0.29022	0.069000	0.20011	0.340000	0.28889	2.413000	0.44618	1.026000	0.39733	0.533000	0.62120	AAC		0.348	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687	
APAF1	317	hgsc.bcm.edu	37	12	99071207	99071208	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	AA	AA	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:99071207_99071208delAA	ENST00000551964.1	+	13	2534_2535	c.1798_1799delAA	c.(1798-1800)aaafs	p.K601fs	APAF1_ENST00000550527.1_Frame_Shift_Del_p.K590fs|APAF1_ENST00000359972.2_Frame_Shift_Del_p.K590fs|APAF1_ENST00000357310.1_Frame_Shift_Del_p.K601fs|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000549007.1_Frame_Shift_Del_p.K601fs|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000339433.3_Frame_Shift_Del_p.K601fs|APAF1_ENST00000547045.1_Frame_Shift_Del_p.K601fs	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	601					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)	p.N602fs*23(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	ATTTAGAAACAAAAAAAACATC	0.347																																					p.589_589del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1765_1766del	12						.																																			97595339	SO:0001589	frameshift_variant	317	exon13			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.1798_1799delAA	12.37:g.99071213_99071214delAA	ENSP00000448165:p.Lys601fs		97595338	NM_013229	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Frame_Shift_Del	DEL	ENST00000551964.1	37	CCDS9069.1																																																																																				0.347	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1	
GAS2L3	283431	hgsc.bcm.edu	37	12	101017792	101017792	+	Silent	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:101017792A>G	ENST00000539410.1	+	9	1595	c.1209A>G	c.(1207-1209)tcA>tcG	p.S403S	GAS2L3_ENST00000547754.1_Silent_p.S403S|GAS2L3_ENST00000537247.1_Silent_p.S299S|GAS2L3_ENST00000266754.5_Silent_p.S403S			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	403					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)	p.S403S(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						ACAATGCATCATCTTCACTTG	0.403																																					p.S403S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1209G	12						.						86.0	88.0	87.0					12																	101017792		2203	4300	6503	99541923	SO:0001819	synonymous_variant	283431	exon10			AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.1209A>G	12.37:g.101017792A>G			99541923	NM_174942	B2RCN2	Silent	SNP	ENST00000539410.1	37	CCDS9079.1																																																																																				0.403	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942	
SBNO1	55206	hgsc.bcm.edu	37	12	123794283	123794283	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:123794283delT	ENST00000602398.1	-	26	3543	c.3416delA	c.(3415-3417)aatfs	p.N1139fs	SBNO1_ENST00000602750.1_Frame_Shift_Del_p.N1138fs|SBNO1_ENST00000420886.2_Frame_Shift_Del_p.N1139fs|SBNO1_ENST00000267176.4_Frame_Shift_Del_p.N1138fs			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1139					regulation of transcription, DNA-templated (GO:0006355)			p.N1138fs*9(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATATCTTCCATTTTTTTTGGC	0.388																																					p.N1138fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.3413delA	12						.						134.0	131.0	132.0					12																	123794283		2203	4300	6503	122360236	SO:0001589	frameshift_variant	55206	exon25			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3416delA	12.37:g.123794283delT	ENSP00000473665:p.Asn1139fs		122360236	NM_018183	Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Frame_Shift_Del	DEL	ENST00000602398.1	37	CCDS53844.1																																																																																				0.388	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183	
GOLGA3	2802	hgsc.bcm.edu	37	12	133381372	133381372	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:133381372C>A	ENST00000450791.2	-	6	1710	c.1527G>T	c.(1525-1527)gaG>gaT	p.E509D	GOLGA3_ENST00000456883.2_Missense_Mutation_p.E509D|GOLGA3_ENST00000545875.1_Missense_Mutation_p.E509D|GOLGA3_ENST00000537452.1_Missense_Mutation_p.E509D|GOLGA3_ENST00000204726.3_Missense_Mutation_p.E509D			Q08378	GOGA3_HUMAN	golgin A3	509					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.E509D(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GGTACTGCTCCTCGGCCACCT	0.607																																					p.E509D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1527T	12						.						136.0	104.0	115.0					12																	133381372		2203	4300	6503	131891445	SO:0001583	missense	2802	exon7			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.1527G>T	12.37:g.133381372C>A	ENSP00000410378:p.Glu509Asp		131891445	NM_001172557	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265787	0.59540	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47	5.52	3.71	0.42584	.	0.000000	0.85682	D	0.000000	T	0.78559	0.4302	L	0.29908	0.895	0.80722	D	1	D;D;D	0.64830	0.958;0.958;0.994	P;P;P	0.57620	0.689;0.574;0.824	T	0.76526	-0.2927	10	0.49607	T	0.09	.	8.5651	0.33534	0.0:0.7087:0.0:0.2913	.	509;509;509	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	D	509	ENSP00000204726:E509D;ENSP00000410378:E509D;ENSP00000409303:E509D;ENSP00000442143:E509D;ENSP00000442603:E509D	ENSP00000204726:E509D	E	-	3	2	GOLGA3	131891445	1.000000	0.71417	0.997000	0.53966	0.540000	0.34992	1.586000	0.36611	0.701000	0.31803	0.561000	0.74099	GAG		0.607	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895	
LTK	4058	hgsc.bcm.edu	37	15	41798147	41798147	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr15:41798147G>T	ENST00000263800.6	-	12	1694	c.1598C>A	c.(1597-1599)cCt>cAt	p.P533H	LTK_ENST00000453182.2_Intron|LTK_ENST00000561619.1_Missense_Mutation_p.P231H|LTK_ENST00000355166.5_Missense_Mutation_p.P472H	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	533	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P533H(1)|p.P472H(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GGAGTCCCCAGGAAGGCCAAT	0.607										TSP Lung(18;0.14)																											p.P533H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1598A	15						.						102.0	100.0	100.0					15																	41798147		2203	4300	6503	39585439	SO:0001583	missense	4058	exon12			D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1598C>A	15.37:g.41798147G>T	ENSP00000263800:p.Pro533His		39585439	NM_002344	A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	ENST00000263800.6	37	CCDS10077.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001707	0.74932	.	.	ENSG00000062524	ENST00000355166;ENST00000263800	D;D	0.82433	-1.61;-1.61	4.9	4.9	0.64082	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.253293	0.20817	U	0.085136	D	0.88555	0.6468	L	0.53671	1.685	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.66497	0.944;0.882	D	0.87745	0.2588	10	0.42905	T	0.14	.	17.9008	0.88902	0.0:0.0:1.0:0.0	.	472;533	P29376-4;P29376	.;LTK_HUMAN	H	472;533	ENSP00000347293:P472H;ENSP00000263800:P533H	ENSP00000263800:P533H	P	-	2	0	LTK	39585439	0.917000	0.31117	1.000000	0.80357	0.978000	0.69477	1.902000	0.39848	2.547000	0.85894	0.655000	0.94253	CCT		0.607	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2		
RPAP1	26015	hgsc.bcm.edu	37	15	41829190	41829190	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr15:41829190G>A	ENST00000304330.4	-	2	250	c.134C>T	c.(133-135)tCa>tTa	p.S45L	RPAP1_ENST00000561603.1_Missense_Mutation_p.S45L	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	45						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.S45L(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGGCCGGTCTGAGTTGGCATC	0.587																																					p.S45L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C134T	15						.						168.0	148.0	154.0					15																	41829190		2203	4300	6503	39616482	SO:0001583	missense	26015	exon2			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.134C>T	15.37:g.41829190G>A	ENSP00000306123:p.Ser45Leu		39616482	NM_015540	Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.582681	0.28180	.	.	ENSG00000103932	ENST00000304330	D	0.81908	-1.55	5.27	-10.5	0.00291	.	1.234140	0.05492	N	0.556785	T	0.46132	0.1377	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44050	-0.9353	10	0.07990	T	0.79	-8.4495	5.1332	0.14921	0.187:0.1635:0.5391:0.1104	.	45	Q9BWH6	RPAP1_HUMAN	L	45	ENSP00000306123:S45L	ENSP00000306123:S45L	S	-	2	0	RPAP1	39616482	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.272000	0.08560	-1.958000	0.01019	0.561000	0.74099	TCA		0.587	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540	
TYRO3	7301	hgsc.bcm.edu	37	15	41862879	41862879	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr15:41862879G>A	ENST00000263798.3	+	12	1785	c.1561G>A	c.(1561-1563)Ggc>Agc	p.G521S	TYRO3_ENST00000559066.1_Missense_Mutation_p.G476S	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	521	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G521S(1)|p.G513S(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GTTCACCCTGGGCCGGATGTT	0.547																																					p.G521S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1561A	15						.						77.0	74.0	75.0					15																	41862879		2203	4300	6503	39650171	SO:0001583	missense	7301	exon12			D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.1561G>A	15.37:g.41862879G>A	ENSP00000263798:p.Gly521Ser		39650171	NM_006293	O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	G	36	5.680381	0.96774	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.62941	-0.01	5.17	5.17	0.71159	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39759	N	0.001278	T	0.77025	0.4070	L	0.58583	1.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76350	-0.2991	10	0.48119	T	0.1	-25.1003	18.8654	0.92290	0.0:0.0:1.0:0.0	.	521	Q06418	TYRO3_HUMAN	S	453;521	ENSP00000263798:G521S	ENSP00000263798:G521S	G	+	1	0	TYRO3	39650171	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.263000	0.95617	2.682000	0.91365	0.563000	0.77884	GGC		0.547	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2		
ZNF106	64397	hgsc.bcm.edu	37	15	42740640	42740640	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr15:42740640C>A	ENST00000263805.4	-	3	3022	c.2696G>T	c.(2695-2697)aGg>aTg	p.R899M	ZNF106_ENST00000565380.1_Missense_Mutation_p.R127M|ZNF106_ENST00000565611.1_Missense_Mutation_p.R84M	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	899					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.R899M(1)									CTGTCCAGCCCTCAATGAGTT	0.502																																					p.R899M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2696T	15						.						140.0	136.0	137.0					15																	42740640		2203	4299	6502	40527932	SO:0001583	missense	64397	exon3			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.2696G>T	15.37:g.42740640C>A	ENSP00000263805:p.Arg899Met		40527932	NM_022473	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	C	8.267	0.812527	0.16537	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.42900	0.96	5.23	0.977	0.19733	.	0.882560	0.10064	N	0.720541	T	0.28034	0.0691	L	0.40543	1.245	0.09310	N	1	B;B;B	0.12013	0.001;0.005;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.33624	-0.9861	10	0.52906	T	0.07	-0.0859	0.4045	0.00431	0.2042:0.3314:0.2007:0.2638	.	127;899;127	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	M	899;127	ENSP00000263805:R899M	ENSP00000263805:R899M	R	-	2	0	ZFP106	40527932	0.001000	0.12720	0.025000	0.17156	0.458000	0.32498	-0.079000	0.11357	0.349000	0.23975	0.655000	0.94253	AGG		0.502	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473	
FBN1	2200	hgsc.bcm.edu	37	15	48707782	48707782	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr15:48707782C>A	ENST00000316623.5	-	64	8457	c.8002G>T	c.(8002-8004)Ggc>Tgc	p.G2668C	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2668	EGF-like 47; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		G -> C (in MFS). {ECO:0000269|PubMed:11700157}.		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.G2668C(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)		AGGTAACCGCCCTCGGTATTG	0.532																																					p.G2668C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8002T	15	GRCh37	CM013943	FBN1	M		.						86.0	76.0	79.0					15																	48707782		2198	4296	6494	46495074	SO:0001583	missense	2200	exon64			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.8002G>T	15.37:g.48707782C>A	ENSP00000325527:p.Gly2668Cys		46495074	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302038	0.81136	.	.	ENSG00000166147	ENST00000316623	D	0.99557	-6.16	5.81	4.89	0.63831	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.096190	0.64402	D	0.000001	D	0.99687	0.9882	H	0.94423	3.535	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	D	0.97502	1.0061	10	0.87932	D	0	.	13.566	0.61819	0.0:0.9244:0.0:0.0756	.	2668	P35555	FBN1_HUMAN	C	2668	ENSP00000325527:G2668C	ENSP00000325527:G2668C	G	-	1	0	FBN1	46495074	1.000000	0.71417	0.996000	0.52242	0.724000	0.41520	7.818000	0.86416	1.462000	0.47948	0.655000	0.94253	GGC		0.532	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
FBN1	2200	hgsc.bcm.edu	37	15	48707866	48707866	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr15:48707866C>T	ENST00000316623.5	-	64	8373	c.7918G>A	c.(7918-7920)Gaa>Aaa	p.E2640K	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2640	EGF-like 46; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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.E2640K(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)		CTGAACTGTTCATACTGGAAG	0.567																																					p.E2640K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7918A	15						.						107.0	96.0	100.0					15																	48707866		2198	4296	6494	46495158	SO:0001583	missense	2200	exon64			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.7918G>A	15.37:g.48707866C>T	ENSP00000325527:p.Glu2640Lys		46495158	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	35	5.545546	0.96488	.	.	ENSG00000166147	ENST00000316623	D	0.91521	-2.86	5.81	5.81	0.92471	Growth factor, receptor (1);EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.046551	0.85682	D	0.000000	D	0.88647	0.6493	N	0.05230	-0.09	0.80722	D	1	D	0.59767	0.986	P	0.59595	0.86	D	0.89675	0.3886	10	0.39692	T	0.17	.	18.8343	0.92155	0.0:1.0:0.0:0.0	.	2640	P35555	FBN1_HUMAN	K	2640	ENSP00000325527:E2640K	ENSP00000325527:E2640K	E	-	1	0	FBN1	46495158	1.000000	0.71417	0.972000	0.41901	0.967000	0.64934	6.006000	0.70724	2.745000	0.94114	0.655000	0.94253	GAA		0.567	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
FBN1	2200	hgsc.bcm.edu	37	15	48714232	48714232	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr15:48714232C>T	ENST00000316623.5	-	61	7942	c.7487G>A	c.(7486-7488)tGc>tAc	p.C2496Y		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2496	EGF-like 43; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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.C2496Y(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)		TAGGAACTGGCAGTTGTGTTG	0.468																																					p.C2496Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7487A	15						.						110.0	92.0	98.0					15																	48714232		2198	4296	6494	46501524	SO:0001583	missense	2200	exon61			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.7487G>A	15.37:g.48714232C>T	ENSP00000325527:p.Cys2496Tyr		46501524	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	32	5.134723	0.94517	.	.	ENSG00000166147	ENST00000316623	D	0.99445	-5.91	5.89	5.89	0.94794	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99750	0.9900	H	0.97186	3.955	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.97426	1.0012	10	0.87932	D	0	.	19.8568	0.96762	0.0:1.0:0.0:0.0	.	2496	P35555	FBN1_HUMAN	Y	2496	ENSP00000325527:C2496Y	ENSP00000325527:C2496Y	C	-	2	0	FBN1	46501524	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	TGC		0.468	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
FBN1	2200	hgsc.bcm.edu	37	15	48779544	48779544	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr15:48779544C>T	ENST00000316623.5	-	28	3883	c.3428G>A	c.(3427-3429)gGc>gAc	p.G1143D		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1143	EGF-like 17; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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.G1143D(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)		CAGCTGATGGCCAGGCGGGCA	0.483																																					p.G1143D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3428A	15						.						116.0	115.0	115.0					15																	48779544		2198	4296	6494	46566836	SO:0001583	missense	2200	exon28			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.3428G>A	15.37:g.48779544C>T	ENSP00000325527:p.Gly1143Asp		46566836	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	32	5.124342	0.94429	.	.	ENSG00000166147	ENST00000316623	D	0.92397	-3.03	5.6	5.6	0.85130	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97188	0.9081	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97794	1.0240	10	0.87932	D	0	.	19.2077	0.93739	0.0:1.0:0.0:0.0	.	1143	P35555	FBN1_HUMAN	D	1143	ENSP00000325527:G1143D	ENSP00000325527:G1143D	G	-	2	0	FBN1	46566836	1.000000	0.71417	0.673000	0.29887	0.885000	0.51271	7.275000	0.78548	2.639000	0.89480	0.655000	0.94253	GGC		0.483	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
FBN1	2200	hgsc.bcm.edu	37	15	48787340	48787340	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr15:48787340G>A	ENST00000316623.5	-	22	3112	c.2657C>T	c.(2656-2658)cCg>cTg	p.P886L		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	886	TB 4.				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.P886L(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)		TAGGGTGCACGGGCTTCCCCA	0.502																																					p.P886L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2657T	15	GRCh37	CD075408	FBN1	D		.						61.0	53.0	56.0					15																	48787340		2197	4296	6493	46574632	SO:0001583	missense	2200	exon22			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.2657C>T	15.37:g.48787340G>A	ENSP00000325527:p.Pro886Leu		46574632	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033217	0.75504	.	.	ENSG00000166147	ENST00000316623	D	0.94046	-3.34	5.72	5.72	0.89469	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.85682	D	0.000000	D	0.97470	0.9172	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97892	1.0298	10	0.87932	D	0	.	19.4766	0.94991	0.0:0.0:1.0:0.0	.	886	P35555	FBN1_HUMAN	L	886	ENSP00000325527:P886L	ENSP00000325527:P886L	P	-	2	0	FBN1	46574632	1.000000	0.71417	0.961000	0.40146	0.132000	0.20833	9.869000	0.99810	2.690000	0.91761	0.555000	0.69702	CCG		0.502	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
SECISBP2L	9728	hgsc.bcm.edu	37	15	49292142	49292142	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr15:49292142C>A	ENST00000559471.1	-	16	2554	c.2291G>T	c.(2290-2292)cGg>cTg	p.R764L	SECISBP2L_ENST00000559122.1_5'UTR|SECISBP2L_ENST00000261847.3_Missense_Mutation_p.R719L	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	764							poly(A) RNA binding (GO:0044822)	p.R719L(2)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TTCTTGTTCCCGTGCCATGGC	0.458																																					p.R719L												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G2156T	15						.						111.0	102.0	105.0					15																	49292142		2197	4295	6492	47079434	SO:0001583	missense	9728	exon15			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.2291G>T	15.37:g.49292142C>A	ENSP00000453854:p.Arg764Leu		47079434	NM_014701	Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	C	31	5.074066	0.94000	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.74315	-0.83	4.71	4.71	0.59529	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.000000	0.85682	D	0.000000	T	0.80188	0.4577	L	0.57536	1.79	0.53688	D	0.999975	D;D	0.61697	0.983;0.99	P;P	0.55303	0.736;0.773	T	0.79095	-0.1944	10	0.34782	T	0.22	.	17.8441	0.88724	0.0:1.0:0.0:0.0	.	764;719	Q93073;Q93073-2	SBP2L_HUMAN;.	L	719;764	ENSP00000261847:R719L	ENSP00000261847:R719L	R	-	2	0	SECISBP2L	47079434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.631000	0.83237	2.446000	0.82766	0.650000	0.86243	CGG		0.458	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701	
USP8	9101	hgsc.bcm.edu	37	15	50788249	50788249	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr15:50788249C>T	ENST00000396444.3	+	17	3201	c.2863C>T	c.(2863-2865)Cca>Tca	p.P955S	RP11-562A8.4_ENST00000560380.1_RNA|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000433963.1_Missense_Mutation_p.P955S|USP8_ENST00000307179.4_Missense_Mutation_p.P955S|USP8_ENST00000425032.3_Missense_Mutation_p.P849S	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	955	USP.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.P955S(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TTTGTCTCTACCACTAGCATC	0.343																																					p.P955S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2863T	15						.						52.0	48.0	50.0					15																	50788249		2196	4292	6488	48575541	SO:0001583	missense	9101	exon18			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2863C>T	15.37:g.50788249C>T	ENSP00000379721:p.Pro955Ser		48575541	NM_001128611	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091676	0.76756	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032;ENST00000419830;ENST00000396440	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.23	5.23	0.72850	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.100209	0.64402	D	0.000001	T	0.58424	0.2121	M	0.82823	2.61	0.58432	D	0.999994	D;D	0.89917	1.0;0.996	P;P	0.62649	0.905;0.902	T	0.61860	-0.6976	10	0.49607	T	0.09	-7.2397	19.1621	0.93537	0.0:1.0:0.0:0.0	.	849;955	B4DKA8;P40818	.;UBP8_HUMAN	S	955;955;955;849;173;168	ENSP00000379721:P955S;ENSP00000405537:P955S;ENSP00000302239:P955S;ENSP00000412682:P849S	ENSP00000302239:P955S	P	+	1	0	USP8	48575541	1.000000	0.71417	0.735000	0.30896	0.894000	0.52154	5.626000	0.67777	2.597000	0.87782	0.650000	0.86243	CCA		0.343	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154	
CYP19A1	1588	hgsc.bcm.edu	37	15	51503069	51503069	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr15:51503069T>C	ENST00000396402.1	-	10	1601	c.1448A>G	c.(1447-1449)gAg>gGg	p.E483G	CYP19A1_ENST00000396404.4_Missense_Mutation_p.E483G|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.E483G|CYP19A1_ENST00000559878.1_Missense_Mutation_p.E483G	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	483					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.E483G(1)		endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	GTTTTTAGTCTCATCTGGGTG	0.463																																					p.E483G	Melanoma(142;1016 1807 39614 48966 51721)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1448G	15						.						247.0	216.0	227.0					15																	51503069		2196	4293	6489	49290361	SO:0001583	missense	1588	exon11			D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"""Cytochrome P450s"""	2594	protein-coding gene	gene with protein product		107910	"""cytochrome P450, subfamily XIX (aromatization of androgens)"""	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.1448A>G	15.37:g.51503069T>C	ENSP00000379683:p.Glu483Gly		49290361	NM_031226	Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.223742	0.58668	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000396404	T;T;T	0.67698	-0.28;-0.28;-0.28	5.46	5.46	0.80206	.	0.043384	0.85682	D	0.000000	T	0.78748	0.4332	M	0.86953	2.85	0.80722	D	1	B	0.32467	0.372	B	0.43889	0.435	T	0.81422	-0.0940	10	0.87932	D	0	-16.5414	15.8218	0.78654	0.0:0.0:0.0:1.0	.	483	P11511	CP19A_HUMAN	G	483	ENSP00000379683:E483G;ENSP00000260433:E483G;ENSP00000379685:E483G	ENSP00000260433:E483G	E	-	2	0	CYP19A1	49290361	1.000000	0.71417	0.242000	0.24170	0.012000	0.07955	5.929000	0.70096	2.201000	0.70794	0.533000	0.62120	GAG		0.463	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1		
DMXL2	23312	hgsc.bcm.edu	37	15	51834582	51834582	+	Silent	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr15:51834582A>G	ENST00000251076.5	-	9	1340	c.1053T>C	c.(1051-1053)caT>caC	p.H351H	DMXL2_ENST00000449909.3_Silent_p.H351H|DMXL2_ENST00000543779.2_Silent_p.H351H	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	351						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.H351H(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTGCATTTGCATGGTGGGAAA	0.403																																					p.H351H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1053C	15						.						151.0	135.0	141.0					15																	51834582		2195	4293	6488	49621874	SO:0001819	synonymous_variant	23312	exon9			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.1053T>C	15.37:g.51834582A>G			49621874	NM_015263	B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	ENST00000251076.5	37	CCDS10141.1																																																																																				0.403	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	
WDR72	256764	hgsc.bcm.edu	37	15	53908348	53908348	+	Silent	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr15:53908348A>G	ENST00000396328.1	-	15	2294	c.2055T>C	c.(2053-2055)gaT>gaC	p.D685D	WDR72_ENST00000559418.1_Silent_p.D695D|WDR72_ENST00000360509.5_Silent_p.D685D|WDR72_ENST00000557913.1_Silent_p.D682D	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	685								p.D685D(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GGTTTTCCAGATCAAATAGAA	0.418																																					p.D685D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2055C	15						.						81.0	76.0	78.0					15																	53908348		2194	4291	6485	51695640	SO:0001819	synonymous_variant	256764	exon15			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2055T>C	15.37:g.53908348A>G			51695640	NM_182758	Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	CCDS10151.1																																																																																				0.418	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758	
TCF12	6938	hgsc.bcm.edu	37	15	57525047	57525047	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr15:57525047C>T	ENST00000267811.5	+	11	1267	c.963C>T	c.(961-963)agC>agT	p.S321S	TCF12_ENST00000343827.3_Silent_p.S151S|TCF12_ENST00000543579.1_Silent_p.S151S|TCF12_ENST00000557843.1_Silent_p.S321S|TCF12_ENST00000452095.2_Silent_p.S317S|TCF12_ENST00000333725.5_Silent_p.S321S|TCF12_ENST00000537840.1_Silent_p.S85S|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000438423.2_Silent_p.S321S	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	321					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)	p.S317S(1)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GATCAGACAGCATTCTAGGTG	0.418			T	TEC	extraskeletal myxoid chondrosarcoma																																p.S321S			Dom	yes		15	15q21	6938	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""		M	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C963T	15						.						100.0	77.0	85.0					15																	57525047		2192	4292	6484	55312339	SO:0001819	synonymous_variant	6938	exon11			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.963C>T	15.37:g.57525047C>T			55312339	NM_207037	Q7Z3D9|Q86TC1|Q86VM2	Silent	SNP	ENST00000267811.5	37	CCDS10159.1																																																																																				0.418	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205	
TLN2	83660	hgsc.bcm.edu	37	15	62991057	62991057	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr15:62991057C>T	ENST00000561311.1	+	15	1808	c.1578C>T	c.(1576-1578)ggC>ggT	p.G526G	TLN2_ENST00000306829.6_Silent_p.G526G			Q9Y4G6	TLN2_HUMAN	talin 2	526					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.G526G(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						CACCTCTCGGCCAGGATATGG	0.537																																					p.G526G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1578T	15						.						66.0	53.0	58.0					15																	62991057		2203	4300	6503	60778349	SO:0001819	synonymous_variant	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.1578C>T	15.37:g.62991057C>T			60778349	NM_015059	A6NLB8	Silent	SNP	ENST00000561311.1	37	CCDS32261.1																																																																																				0.537	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		
CORO2B	10391	hgsc.bcm.edu	37	15	69003075	69003075	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr15:69003075G>A	ENST00000566799.1	+	4	367	c.338G>A	c.(337-339)cGg>cAg	p.R113Q	CORO2B_ENST00000261861.5_Missense_Mutation_p.R108Q|CORO2B_ENST00000540068.1_Missense_Mutation_p.R108Q|CORO2B_ENST00000543950.1_Missense_Mutation_p.R108Q			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	113					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)	p.R113Q(2)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CTGCAGGTGCGGATCTGGGAG	0.652																																					p.R113Q												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.G338A	15						.						23.0	22.0	22.0					15																	69003075		2198	4295	6493	66790129	SO:0001583	missense	10391	exon4			AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.338G>A	15.37:g.69003075G>A	ENSP00000454783:p.Arg113Gln		66790129	NM_006091	A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	ENST00000566799.1	37	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	G	36	5.692932	0.96793	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.67865	-0.29;-0.29	5.55	5.55	0.83447	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.052086	0.64402	D	0.000001	T	0.73273	0.3566	L	0.46819	1.47	0.80722	D	1	D	0.55800	0.973	P	0.55087	0.768	T	0.73222	-0.4051	10	0.48119	T	0.1	-25.6916	18.4855	0.90827	0.0:0.0:1.0:0.0	.	113	Q9UQ03	COR2B_HUMAN	Q	113;108;108	ENSP00000446250:R108Q;ENSP00000443819:R108Q	ENSP00000261861:R113Q	R	+	2	0	CORO2B	66790129	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.584000	0.98220	2.597000	0.87782	0.655000	0.94253	CGG		0.652	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091	
ISLR2	57611	hgsc.bcm.edu	37	15	74425416	74425416	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr15:74425416C>T	ENST00000361742.3	+	4	1090	c.321C>T	c.(319-321)agC>agT	p.S107S	ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565540.1_Silent_p.S107S|ISLR2_ENST00000453268.2_Silent_p.S107S|ISLR2_ENST00000419208.1_Silent_p.S107S|ISLR2_ENST00000445793.1_Silent_p.S107S|ISLR2_ENST00000435464.1_Silent_p.S107S|ISLR2_ENST00000565159.1_Silent_p.S107S	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	107					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S107S(1)		breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TCGATCTGAGCCACAACTTCA	0.622																																					p.S107S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C321T	15						.						78.0	73.0	75.0					15																	74425416		2198	4297	6495	72212469	SO:0001819	synonymous_variant	57611	exon3				CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.321C>T	15.37:g.74425416C>T			72212469	NM_020851	A8K352|Q9P263	Silent	SNP	ENST00000361742.3	37	CCDS10259.1																																																																																				0.622	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851	
STRA6	64220	hgsc.bcm.edu	37	15	74474535	74474535	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr15:74474535T>G	ENST00000323940.5	-	16	1732	c.1487A>C	c.(1486-1488)gAg>gCg	p.E496A	STRA6_ENST00000416286.3_Missense_Mutation_p.E488A|STRA6_ENST00000449139.2_Missense_Mutation_p.E496A|STRA6_ENST00000423167.2_Missense_Mutation_p.E487A|STRA6_ENST00000395105.4_Missense_Mutation_p.E496A|STRA6_ENST00000535552.1_Missense_Mutation_p.E533A|STRA6_ENST00000563965.1_Missense_Mutation_p.E535A|RP11-665J16.1_ENST00000561647.1_RNA|STRA6_ENST00000574278.1_Missense_Mutation_p.E511A|STRA6_ENST00000574439.1_5'UTR	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	496					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)	p.E496A(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						ATCATGAGTCTCCAGGAAGAC	0.597																																					p.E511A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1532C	15						.						72.0	66.0	68.0					15																	74474535		2198	4297	6495	72261588	SO:0001583	missense	64220	exon16			AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"""retinol binding protein 4 receptor"""	610745	"""stimulated by retinoic acid gene 6 homolog (mouse)"", ""stimulated by retinoic acid 6 homolog (mouse)"""			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.1487A>C	15.37:g.74474535T>G	ENSP00000326085:p.Glu496Ala		72261588	NM_001199041	A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Missense_Mutation	SNP	ENST00000323940.5	37	CCDS10261.1	.	.	.	.	.	.	.	.	.	.	T	13.66	2.304284	0.40795	.	.	ENSG00000137868	ENST00000395105;ENST00000323940;ENST00000416286;ENST00000545137;ENST00000449139;ENST00000423167;ENST00000535552;ENST00000536129	D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5	4.54	2.06	0.26882	.	0.491076	0.23530	N	0.047192	T	0.75072	0.3800	L	0.59436	1.845	0.19300	N	0.999979	P;P;P;P;P;P	0.44044	0.804;0.804;0.688;0.825;0.804;0.649	B;B;B;B;B;B	0.42916	0.402;0.402;0.313;0.294;0.402;0.23	T	0.66089	-0.6010	10	0.54805	T	0.06	-1.0791	6.3734	0.21493	0.0:0.0835:0.1575:0.7589	.	533;534;487;496;535;305	F5GYI8;B7Z5G7;Q9BX79-3;Q9BX79;Q9BX79-4;B3KRT6	.;.;.;STRA6_HUMAN;.;.	A	496;496;428;305;535;487;533;386	ENSP00000378537:E496A;ENSP00000326085:E496A;ENSP00000413012:E487A;ENSP00000440238:E533A	ENSP00000326085:E496A	E	-	2	0	STRA6	72261588	0.935000	0.31712	0.010000	0.14722	0.952000	0.60782	4.011000	0.57124	0.107000	0.17824	0.260000	0.18958	GAG		0.597	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272891.1		
SEMA7A	8482	hgsc.bcm.edu	37	15	74711236	74711236	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr15:74711236A>G	ENST00000261918.4	-	2	784	c.236T>C	c.(235-237)tTc>tCc	p.F79S	SEMA7A_ENST00000542748.1_5'UTR|SEMA7A_ENST00000543145.2_Missense_Mutation_p.F79S	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	79	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.F79S(1)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						TGGCTCGTGGAAAAGCACCGT	0.597																																					p.F79S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T236C	15						.						116.0	105.0	109.0					15																	74711236		2197	4296	6493	72498289	SO:0001583	missense	8482	exon2			AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.236T>C	15.37:g.74711236A>G	ENSP00000261918:p.Phe79Ser		72498289	NM_003612	B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	37	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	A	19.41	3.822201	0.71028	.	.	ENSG00000138623	ENST00000261918;ENST00000543145	T;T	0.22134	1.97;1.97	4.15	2.93	0.34026	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.235838	0.36374	N	0.002627	T	0.32315	0.0825	L	0.46157	1.445	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69824	0.943;0.966	T	0.05468	-1.0883	10	0.87932	D	0	-22.1021	6.3839	0.21550	0.7811:0.0:0.0:0.2189	.	79;79	F5H1S0;O75326	.;SEM7A_HUMAN	S	79	ENSP00000261918:F79S;ENSP00000438966:F79S	ENSP00000261918:F79S	F	-	2	0	SEMA7A	72498289	0.994000	0.37717	1.000000	0.80357	0.959000	0.62525	1.251000	0.32862	1.864000	0.54056	0.533000	0.62120	TTC		0.597	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612	
ADAMTSL3	57188	hgsc.bcm.edu	37	15	84581895	84581895	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr15:84581895G>A	ENST00000286744.5	+	16	1976	c.1752G>A	c.(1750-1752)gtG>gtA	p.V584V	ADAMTSL3_ENST00000567476.1_Silent_p.V584V	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	584	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V584V(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGCCGGGTGTGCAGGTCCGTG	0.577																																					p.V584V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1752A	15						.						89.0	82.0	84.0					15																	84581895		2203	4300	6503	82372899	SO:0001819	synonymous_variant	57188	exon16			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.1752G>A	15.37:g.84581895G>A			82372899	NM_207517	A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	37	CCDS10326.1																																																																																				0.577	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517	
ZSCAN2	54993	hgsc.bcm.edu	37	15	85165004	85165004	+	Silent	SNP	C	C	T	rs138375096		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr15:85165004C>T	ENST00000448803.2	+	3	1870	c.1578C>T	c.(1576-1578)ggC>ggT	p.G526G	ZSCAN2_ENST00000546148.1_Silent_p.G526G|ZSCAN2_ENST00000358472.3_Silent_p.G376G|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000327179.6_Silent_p.G525G|ZSCAN2_ENST00000538076.1_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	526					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|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.G526G(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CCCACACGGGCGAGAAGCCCT	0.587													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18362	0.0		0.0	False		,,,				2504	0.0				p.G526G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1578T	15						.	C		1,4405	2.1+/-5.4	0,1,2202	104.0	106.0	105.0		1578	1.6	1.0	15	dbSNP_134	105	0,8598		0,0,4299	no	coding-synonymous	ZSCAN2	NM_181877.3		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		526/615	85165004	1,13003	2203	4299	6502	82966008	SO:0001819	synonymous_variant	54993	exon3			BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.1578C>T	15.37:g.85165004C>T			82966008	NM_181877	A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Silent	SNP	ENST00000448803.2	37	CCDS10329.2																																																																																				0.587	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894	
ABHD2	11057	hgsc.bcm.edu	37	15	89719118	89719118	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr15:89719118G>A	ENST00000352732.5	+	6	1134	c.614G>A	c.(613-615)gGc>gAc	p.G205D	ABHD2_ENST00000565973.1_Missense_Mutation_p.G205D|ABHD2_ENST00000355100.3_Missense_Mutation_p.G205D	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	205					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.G205D(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					GTCGTCGTGGGCTTCAGCCTG	0.547																																					p.G205D	Colon(11;252 417 24570 33239 41878)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G614A	15						.						170.0	139.0	150.0					15																	89719118		2200	4299	6499	87520122	SO:0001583	missense	11057	exon6			X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.614G>A	15.37:g.89719118G>A	ENSP00000268129:p.Gly205Asp		87520122	NM_152924	Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP	ENST00000352732.5	37	CCDS10348.1	.	.	.	.	.	.	.	.	.	.	G	34	5.390736	0.95988	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	D;D	0.87179	-2.22;-2.22	5.55	5.55	0.83447	Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	D	0.94225	0.8146	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94604	0.7798	10	0.87932	D	0	-14.7727	19.5044	0.95110	0.0:0.0:1.0:0.0	.	205	P08910	ABHD2_HUMAN	D	205	ENSP00000268129:G205D;ENSP00000347217:G205D	ENSP00000268129:G205D	G	+	2	0	ABHD2	87520122	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.859000	0.99545	2.591000	0.87537	0.643000	0.83706	GGC		0.547	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2		
SLCO3A1	28232	hgsc.bcm.edu	37	15	92706074	92706074	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr15:92706074C>T	ENST00000318445.6	+	10	2056	c.1842C>T	c.(1840-1842)tgC>tgT	p.C614C	RP11-152L20.3_ENST00000561674.1_RNA|SLCO3A1_ENST00000555549.1_3'UTR|RP11-24J19.1_ENST00000557683.1_RNA|SLCO3A1_ENST00000424469.2_Silent_p.C614C	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	614					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.C614C(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	AAGGCGCCTGCGTCCTCTACG	0.592																																					p.C614C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1842T	15						.						108.0	77.0	88.0					15																	92706074		2198	4298	6496	90507078	SO:0001819	synonymous_variant	28232	exon10			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1842C>T	15.37:g.92706074C>T			90507078	NM_013272	A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Silent	SNP	ENST00000318445.6	37	CCDS10371.1																																																																																				0.592	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272	
ST8SIA2	8128	hgsc.bcm.edu	37	15	92977599	92977599	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr15:92977599G>T	ENST00000268164.3	+	3	521	c.284G>T	c.(283-285)aGg>aTg	p.R95M	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.R74M	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	95					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.R95M(1)		endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CTCTCTCTGAGGATCAGGTAC	0.463																																					p.R95M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G284T	15						.						139.0	109.0	120.0					15																	92977599		2198	4298	6496	90778603	SO:0001583	missense	8128	exon3			U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.284G>T	15.37:g.92977599G>T	ENSP00000268164:p.Arg95Met		90778603	NM_006011	Q4VAZ0|Q92470|Q92746	Missense_Mutation	SNP	ENST00000268164.3	37	CCDS10372.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477674	0.44044	.	.	ENSG00000140557	ENST00000268164;ENST00000539113	T;T	0.18502	2.21;2.48	5.65	4.64	0.57946	.	0.328480	0.32028	N	0.006689	T	0.07098	0.0180	N	0.08118	0	0.34421	D	0.697501	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.18241	-1.0343	10	0.30078	T	0.28	-0.4208	3.6822	0.08314	0.3399:0.0:0.6601:0.0	.	74;95	C6G488;Q92186	.;SIA8B_HUMAN	M	95;74	ENSP00000268164:R95M;ENSP00000437382:R74M	ENSP00000268164:R95M	R	+	2	0	ST8SIA2	90778603	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.966000	0.49208	2.656000	0.90262	0.655000	0.94253	AGG		0.463	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011	
ADH1B	125	hgsc.bcm.edu	37	4	100242481	100242481	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:100242481G>A	ENST00000305046.8	-	1	75	c.8C>T	c.(7-9)aCa>aTa	p.T3I	ADH1B_ENST00000504498.1_5'UTR|ADH1B_ENST00000394887.3_5'UTR			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	3					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)	p.T3I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	TTTTCCTGCTGTGCTCATGTC	0.338																																					p.T3I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8T	4						.						149.0	143.0	145.0					4																	100242481		2203	4300	6503	100461504	SO:0001583	missense	125	exon1			AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.8C>T	4.37:g.100242481G>A	ENSP00000306606:p.Thr3Ile		100461504	NM_000668	A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	37	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315708	0.23908	.	.	ENSG00000196616	ENST00000305046;ENST00000412614	T	0.03951	3.75	3.6	3.6	0.41247	GroES-like (1);	0.283416	0.32459	N	0.006076	T	0.20981	0.0505	M	0.87547	2.89	0.80722	D	1	P	0.40834	0.73	P	0.56474	0.799	T	0.00899	-1.1522	10	0.87932	D	0	-20.2614	12.5399	0.56163	0.0:0.0:1.0:0.0	.	3	P00325	ADH1B_HUMAN	I	3	ENSP00000306606:T3I	ENSP00000306606:T3I	T	-	2	0	ADH1B	100461504	1.000000	0.71417	0.995000	0.50966	0.912000	0.54170	2.891000	0.48617	1.830000	0.53286	0.555000	0.69702	ACA		0.338	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668	
ENPEP	2028	hgsc.bcm.edu	37	4	111480819	111480819	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:111480819A>G	ENST00000265162.5	+	19	3001	c.2659A>G	c.(2659-2661)Aga>Gga	p.R887G	ENPEP_ENST00000504100.1_3'UTR	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	887			R -> T (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R887G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		ACTCAATAACAGAAACCTTGG	0.368																																					p.R887G												ENPEP,breast,NS,Substitution - Missense,-1	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2659G	4						.						94.0	95.0	95.0					4																	111480819		2203	4300	6503	111700268	SO:0001583	missense	2028	exon19			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.2659A>G	4.37:g.111480819A>G	ENSP00000265162:p.Arg887Gly		111700268	NM_001977	Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.278375	0.59758	.	.	ENSG00000138792	ENST00000265162	T	0.05258	3.47	5.27	1.11	0.20524	.	0.097271	0.64402	D	0.000001	T	0.22936	0.0554	M	0.82323	2.585	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.02942	-1.1091	10	0.26408	T	0.33	.	12.9363	0.58316	0.613:0.3869:0.0:0.0	.	887	Q07075	AMPE_HUMAN	G	887	ENSP00000265162:R887G	ENSP00000265162:R887G	R	+	1	2	ENPEP	111700268	1.000000	0.71417	0.996000	0.52242	0.780000	0.44128	0.988000	0.29616	0.293000	0.22520	-0.291000	0.09656	AGA		0.368	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2		
ANK2	287	hgsc.bcm.edu	37	4	114209637	114209637	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:114209637A>G	ENST00000357077.4	+	20	2325	c.2272A>G	c.(2272-2274)Acc>Gcc	p.T758A	ANK2_ENST00000394537.3_Missense_Mutation_p.T758A|ANK2_ENST00000264366.6_Missense_Mutation_p.T758A|ANK2_ENST00000506722.1_Missense_Mutation_p.T737A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	758					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.T758A(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)		TAACGCAAAAACCAAGGTAAA	0.373																																					p.T758A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2272G	4						.						80.0	78.0	79.0					4																	114209637		2203	4300	6503	114429086	SO:0001583	missense	287	exon20			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.2272A>G	4.37:g.114209637A>G	ENSP00000349588:p.Thr758Ala		114429086	NM_020977	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.502884	0.85176	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4;2.4;2.4	5.15	5.15	0.70609	Ankyrin repeat-containing domain (3);	0.000000	0.47455	D	0.000235	T	0.29850	0.0746	L	0.28192	0.835	0.80722	D	1	D;D;D;D;P	0.89917	0.999;1.0;1.0;0.999;0.834	D;D;D;D;D	0.91635	0.998;0.999;0.998;0.971;0.938	T	0.07028	-1.0794	10	0.72032	D	0.01	.	14.9654	0.71188	1.0:0.0:0.0:0.0	.	758;758;758;737;737	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	A	737;704;737;773;758;758;758;737	ENSP00000423799:T737A;ENSP00000421011:T704A;ENSP00000421067:T737A;ENSP00000424722:T773A;ENSP00000378044:T758A;ENSP00000349588:T758A;ENSP00000264366:T758A	ENSP00000264366:T758A	T	+	1	0	ANK2	114429086	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.317000	0.96327	1.928000	0.55862	0.377000	0.23210	ACC		0.373	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
ANK2	287	hgsc.bcm.edu	37	4	114278502	114278502	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:114278502G>A	ENST00000357077.4	+	38	8781	c.8728G>A	c.(8728-8730)Gtg>Atg	p.V2910M	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.V2877M|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2910					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.V2910M(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)		GGATGTTCCCGTGTCTGACCT	0.393																																					p.V2910M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8728A	4						.						183.0	183.0	183.0					4																	114278502		2203	4300	6503	114497951	SO:0001583	missense	287	exon38			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.8728G>A	4.37:g.114278502G>A	ENSP00000349588:p.Val2910Met		114497951	NM_001148	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814376	0.32053	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.69306	-0.39;-0.39	5.43	2.8	0.32819	.	0.757856	0.11122	N	0.597281	T	0.56673	0.2001	L	0.54323	1.7	0.09310	N	0.999999	D;P	0.54772	0.968;0.653	B;B	0.37480	0.197;0.251	T	0.42085	-0.9472	9	.	.	.	.	9.0671	0.36469	0.2422:0.0:0.7578:0.0	.	2877;2910	Q01484;Q01484-4	ANK2_HUMAN;.	M	2910;2877	ENSP00000349588:V2910M;ENSP00000264366:V2877M	.	V	+	1	0	ANK2	114497951	0.003000	0.15002	0.000000	0.03702	0.022000	0.10575	1.374000	0.34283	0.264000	0.21851	-0.137000	0.14449	GTG		0.393	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
EXOSC9	5393	hgsc.bcm.edu	37	4	122731172	122731172	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:122731172G>A	ENST00000243498.5	+	7	764	c.656G>A	c.(655-657)gGc>gAc	p.G219D	EXOSC9_ENST00000512454.1_Missense_Mutation_p.G203D|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000379663.3_Missense_Mutation_p.G219D	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	219	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G219D(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						GTGATGGATGGCTTGCTGGTG	0.393																																					p.G219D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G656A	4						.						206.0	187.0	193.0					4																	122731172		2203	4300	6503	122950622	SO:0001583	missense	5393	exon7			M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 1 (75kD)"""	606180	"""polymyositis/scleroderma autoantigen 1, 75kDa"""	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.656G>A	4.37:g.122731172G>A	ENSP00000243498:p.Gly219Asp		122950622	NM_001034194	Q12883|Q4W5P5|Q86Y41|Q86Y48	Missense_Mutation	SNP	ENST00000243498.5	37	CCDS3722.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.274633|5.274633	0.95459|0.95459	.|.	.|.	ENSG00000123737|ENSG00000123737	ENST00000243498;ENST00000379663;ENST00000509800;ENST00000512454|ENST00000511132	T;T;T;T|.	0.54071|.	0.59;0.59;0.59;0.59|.	5.48|5.48	5.48|5.48	0.80851|0.80851	Exoribonuclease, phosphorolytic domain 2 (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.86764|.	0.6011|.	M|M	0.92923|0.92923	3.36|3.36	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;0.996|.	D|.	0.89648|.	0.3867|.	10|.	0.87932|.	D|.	0|.	-29.8967|-29.8967	19.3519|19.3519	0.94392|0.94392	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	203;219;219|.	D6RIY6;Q06265;Q06265-2|.	.;EXOS9_HUMAN;.|.	D|X	219;219;173;203|54	ENSP00000243498:G219D;ENSP00000368984:G219D;ENSP00000422205:G173D;ENSP00000425782:G203D|.	ENSP00000243498:G219D|.	G|W	+|+	2|3	0|0	EXOSC9|EXOSC9	122950622|122950622	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.755000|9.755000	0.98912|0.98912	2.574000|2.574000	0.86865|0.86865	0.484000|0.484000	0.47621|0.47621	GGC|TGG		0.393	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2	NM_005033	
CCNA2	890	hgsc.bcm.edu	37	4	122738819	122738819	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:122738819T>C	ENST00000274026.5	-	8	1576	c.1273A>G	c.(1273-1275)Aac>Gac	p.N425D		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	425					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.N425D(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						TCTGGTGGGTTGAGGAGAGAA	0.348																																					p.N425D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1273G	4						.						141.0	136.0	138.0					4																	122738819		2203	4300	6503	122958269	SO:0001583	missense	890	exon8				CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.1273A>G	4.37:g.122738819T>C	ENSP00000274026:p.Asn425Asp		122958269	NM_001237	A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Missense_Mutation	SNP	ENST00000274026.5	37	CCDS3723.1	.	.	.	.	.	.	.	.	.	.	T	11.15	1.555424	0.27739	.	.	ENSG00000145386	ENST00000274026	T	0.21031	2.03	6.16	2.48	0.30137	Cyclin, C-terminal (1);Cyclin-like (2);	0.393919	0.29508	N	0.011958	T	0.06142	0.0159	N	0.01109	-1.01	0.26742	N	0.970363	B	0.02656	0.0	B	0.01281	0.0	T	0.28681	-1.0036	10	0.35671	T	0.21	.	6.8758	0.24147	0.0:0.4179:0.0:0.5821	.	425	P20248	CCNA2_HUMAN	D	425	ENSP00000274026:N425D	ENSP00000274026:N425D	N	-	1	0	CCNA2	122958269	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.260000	0.51523	0.556000	0.29098	0.528000	0.53228	AAC		0.348	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256712.2	NM_001237	
BOD1L1	259282	hgsc.bcm.edu	37	4	13605316	13605316	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:13605316A>C	ENST00000040738.5	-	10	3343	c.3208T>G	c.(3208-3210)Ttg>Gtg	p.L1070V		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1070						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L1070V(1)									TTTTCGCACAACCTTCTACTT	0.413																																					p.L1070V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3208G	4						.						114.0	111.0	112.0					4																	13605316		2203	4300	6503	13214414	SO:0001583	missense	259282	exon10			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3208T>G	4.37:g.13605316A>C	ENSP00000040738:p.Leu1070Val		13214414	NM_148894	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	A	0.851	-0.738744	0.03111	.	.	ENSG00000038219	ENST00000040738	T	0.10382	2.88	5.53	-7.23	0.01480	.	0.247490	0.19710	N	0.107824	T	0.07052	0.0179	M	0.62723	1.935	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.31971	-0.9924	10	0.22706	T	0.39	-2.0723	3.0871	0.06281	0.2339:0.1888:0.4049:0.1724	.	1070	Q8NFC6	BOD1L_HUMAN	V	1070	ENSP00000040738:L1070V	ENSP00000040738:L1070V	L	-	1	2	BOD1L	13214414	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.169000	0.03120	-1.257000	0.02475	-1.175000	0.01729	TTG		0.413	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894	
ANKRD50	57182	hgsc.bcm.edu	37	4	125591362	125591362	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:125591362G>T	ENST00000504087.1	-	4	4107	c.3070C>A	c.(3070-3072)Cat>Aat	p.H1024N	ANKRD50_ENST00000515641.1_Missense_Mutation_p.H845N	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1024								p.H1024N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ACTTTTACATGGCCCTGCCAG	0.502																																					p.H845N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2533A	4						.						93.0	77.0	82.0					4																	125591362		2203	4300	6503	125810812	SO:0001583	missense	57182	exon3			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3070C>A	4.37:g.125591362G>T	ENSP00000425658:p.His1024Asn		125810812	NM_001167882	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.531239	0.45073	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.64260	-0.09;-0.09	5.51	5.51	0.81932	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.53818	0.1820	N	0.26130	0.795	0.58432	D	0.999999	B	0.15141	0.012	B	0.23150	0.044	T	0.43956	-0.9359	10	0.35671	T	0.21	.	19.614	0.95622	0.0:0.0:1.0:0.0	.	1024	Q9ULJ7	ANR50_HUMAN	N	1024;845	ENSP00000425658:H1024N;ENSP00000425355:H845N	ENSP00000425658:H1024N	H	-	1	0	ANKRD50	125810812	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.060000	0.93907	2.873000	0.98535	0.561000	0.74099	CAT		0.502	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337	
PCDH10	57575	hgsc.bcm.edu	37	4	134084326	134084326	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:134084326C>T	ENST00000264360.5	+	4	3818	c.2992C>T	c.(2992-2994)Cgg>Tgg	p.R998W		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	998					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R998W(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGGGGCAGAGCGGTCCTTTTC	0.547																																					p.R998W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2992T	4						.						115.0	119.0	117.0					4																	134084326		2203	4300	6503	134303776	SO:0001583	missense	57575	exon4			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2992C>T	4.37:g.134084326C>T	ENSP00000264360:p.Arg998Trp		134303776	NM_032961	Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054807	0.75960	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.58358	0.34	5.24	1.05	0.20165	.	0.000000	0.37857	N	0.001911	T	0.54191	0.1843	L	0.39898	1.24	0.51233	D	0.999915	D	0.76494	0.999	P	0.53689	0.732	T	0.60388	-0.7273	10	0.87932	D	0	.	14.7366	0.69419	0.7525:0.2475:0.0:0.0	.	998	Q9P2E7	PCD10_HUMAN	W	998	ENSP00000264360:R998W	ENSP00000264360:R998W	R	+	1	2	PCDH10	134303776	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.162000	0.42367	0.311000	0.23014	0.650000	0.86243	CGG		0.547	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961	
FBXW7	55294	hgsc.bcm.edu	37	4	153332919	153332919	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:153332919G>A	ENST00000281708.4	-	2	1266	c.37C>T	c.(37-39)Cga>Tga	p.R13*	FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R13*|FBXW7_ENST00000604872.1_Nonsense_Mutation_p.R13*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R13*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	13					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.R13*(3)		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)				CCAGTTCGTCGTCTTTTGCTG	0.483			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																p.R13X			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	FBXW7,kidney,NS,Substitution - Nonsense,0	.	3	Substitution - Nonsense(3)	large_intestine(2)|kidney(1)	c.C37T	4						.						75.0	66.0	69.0					4																	153332919		2203	4300	6503	153552369	SO:0001587	stop_gained	55294	exon2			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.37C>T	4.37:g.153332919G>A	ENSP00000281708:p.Arg13*		153552369	NM_033632	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875991	0.91664	.	.	ENSG00000109670	ENST00000281708	.	.	.	5.67	4.75	0.60458	.	0.098967	0.39475	N	0.001355	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8831	17.3378	0.87287	0.0:0.0:0.8664:0.1336	.	.	.	.	X	13	.	ENSP00000281708:R13X	R	-	1	2	FBXW7	153552369	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.689000	0.68234	2.668000	0.90789	0.650000	0.86243	CGA		0.483	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
MND1	84057	hgsc.bcm.edu	37	4	154318471	154318471	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:154318471T>G	ENST00000504860.1	+	5	450	c.407T>G	c.(406-408)gTt>gGt	p.V136G	MND1_ENST00000240488.3_Missense_Mutation_p.V151G					meiotic nuclear divisions 1 homolog (S. cerevisiae)									p.V151G(1)		large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					GATCCGCAAGTTGTGGAAGAA	0.388																																					p.V151G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T452G	4						.						86.0	82.0	84.0					4																	154318471		2203	4300	6503	154537921	SO:0001583	missense	84057	exon6			AY028916	CCDS3782.1, CCDS75202.1	4q31.3	2008-02-05			ENSG00000121211	ENSG00000121211			24839	protein-coding gene	gene with protein product		611422				11940665	Standard	NM_032117		Approved	GAJ	uc003ink.2	Q9BWT6	OTTHUMG00000161523	ENST00000504860.1:c.407T>G	4.37:g.154318471T>G	ENSP00000422933:p.Val136Gly		154537921	NM_032117		Missense_Mutation	SNP	ENST00000504860.1	37		.	.	.	.	.	.	.	.	.	.	T	12.93	2.086348	0.36855	.	.	ENSG00000121211	ENST00000240488;ENST00000504860	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.69878	0.3160	M	0.79123	2.44	0.80722	D	1	P	0.45634	0.863	P	0.49853	0.624	T	0.68387	-0.5422	9	0.23302	T	0.38	-24.6129	13.5774	0.61883	0.0:0.0:0.0:1.0	.	151	Q9BWT6	MND1_HUMAN	G	151;136	.	ENSP00000240488:V151G	V	+	2	0	MND1	154537921	1.000000	0.71417	1.000000	0.80357	0.119000	0.20118	5.321000	0.65846	2.245000	0.73994	0.454000	0.30748	GTT		0.388	MND1-002	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365195.1	NM_032117	
DCHS2	54798	hgsc.bcm.edu	37	4	155225950	155225950	+	Missense_Mutation	SNP	C	C	T	rs140326799		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:155225950C>T	ENST00000357232.4	-	17	4110	c.4111G>A	c.(4111-4113)Gca>Aca	p.A1371T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1371	Cadherin 11. {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.A1371T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AACTCTGGTGCGTGATCGTTT	0.448																																					p.A1371T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4111A	4						.	C	THR/ALA	0,4406		0,0,2203	83.0	76.0	79.0		4111	2.7	0.0	4	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	missense	DCHS2	NM_017639.3	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1371/2917	155225950	1,13005	2203	4300	6503	155445400	SO:0001583	missense	54798	exon17			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4111G>A	4.37:g.155225950C>T	ENSP00000349768:p.Ala1371Thr		155445400	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	8.813	0.935752	0.18206	0.0	1.16E-4	ENSG00000197410	ENST00000357232	T	0.61627	0.09	5.67	2.65	0.31530	Cadherin (3);Cadherin-like (1);	0.469001	0.20009	N	0.101161	T	0.39627	0.1085	L	0.58669	1.825	0.40099	D	0.976346	B	0.31968	0.349	B	0.17722	0.019	T	0.29027	-1.0025	10	0.06099	T	0.92	.	4.7129	0.12880	0.1495:0.4321:0.0:0.4184	.	1371	Q6V1P9	PCD23_HUMAN	T	1371	ENSP00000349768:A1371T	ENSP00000349768:A1371T	A	-	1	0	DCHS2	155445400	0.000000	0.05858	0.013000	0.15412	0.679000	0.39708	-0.256000	0.08757	0.182000	0.20032	0.655000	0.94253	GCA		0.448	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
GRIA2	2891	hgsc.bcm.edu	37	4	158233975	158233975	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:158233975G>A	ENST00000264426.9	+	4	893	c.614G>A	c.(613-615)cGg>cAg	p.R205Q	GRIA2_ENST00000507898.1_Missense_Mutation_p.R158Q|GRIA2_ENST00000393815.2_Missense_Mutation_p.R158Q|GRIA2_ENST00000296526.7_Missense_Mutation_p.R205Q|GRIA2_ENST00000449365.1_Missense_Mutation_p.R158Q	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	205					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.R205Q(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)	AAAAAGGAACGGCGTGTAATT	0.373																																					p.R158Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G473A	4						.						120.0	123.0	122.0					4																	158233975		2203	4300	6503	158453425	SO:0001583	missense	2891	exon4				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.614G>A	4.37:g.158233975G>A	ENSP00000264426:p.Arg205Gln		158453425	NM_001083620	A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	33	5.256104	0.95336	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365;ENST00000503437	T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42	5.56	5.56	0.83823	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.46092	0.1375	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;P;D	0.81914	0.995;0.544;0.949	T	0.11767	-1.0574	10	0.18276	T	0.48	.	19.5267	0.95209	0.0:0.0:1.0:0.0	.	205;205;158	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	Q	158;158;205;205;158;78	ENSP00000426845:R158Q;ENSP00000377403:R158Q;ENSP00000296526:R205Q;ENSP00000264426:R205Q;ENSP00000389837:R158Q;ENSP00000426784:R78Q	ENSP00000264426:R205Q	R	+	2	0	GRIA2	158453425	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.614000	0.82996	2.621000	0.88768	0.563000	0.77884	CGG		0.373	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2		
TMEM144	55314	hgsc.bcm.edu	37	4	159154098	159154098	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:159154098G>A	ENST00000296529.6	+	7	979	c.459G>A	c.(457-459)acG>acA	p.T153T	TMEM144_ENST00000514558.1_Silent_p.T153T	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	153						integral component of membrane (GO:0016021)		p.T153T(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)		CAAATAACACGTGTTCCATGG	0.279																																					p.T153T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G459A	4						.						86.0	84.0	84.0					4																	159154098		2203	4298	6501	159373548	SO:0001819	synonymous_variant	55314	exon7			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.459G>A	4.37:g.159154098G>A			159373548	NM_018342	D3DP24|Q49A05|Q9NUT3	Silent	SNP	ENST00000296529.6	37	CCDS3799.1																																																																																				0.279	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365597.1	NM_018342	
QDPR	5860	hgsc.bcm.edu	37	4	17493950	17493950	+	Silent	SNP	G	G	A	rs140949360	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:17493950G>A	ENST00000281243.5	-	5	629	c.450C>T	c.(448-450)taC>taT	p.Y150Y	QDPR_ENST00000428702.2_Silent_p.Y119Y|QDPR_ENST00000508623.1_Intron|QDPR_ENST00000513615.1_Intron	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	150			Y -> C (in HPABH4C; mild). {ECO:0000269|PubMed:11153907, ECO:0000269|PubMed:9744478}.		cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|dihydrobiopterin metabolic process (GO:0051066)|L-phenylalanine catabolic process (GO:0006559)|liver development (GO:0001889)|response to aluminum ion (GO:0010044)|response to glucagon (GO:0033762)|response to lead ion (GO:0010288)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	6,7-dihydropteridine reductase activity (GO:0004155)|electron carrier activity (GO:0009055)|NADH binding (GO:0070404)|NADPH binding (GO:0070402)	p.Y150Y(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						TGGCCATGCCGTACCCGATCA	0.607													G|||	3	0.000599042	0.0008	0.0	5008	,	,		17345	0.0		0.001	False		,,,				2504	0.001				p.Y150Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C450T	4						.	G		1,4405	2.1+/-5.4	0,1,2202	43.0	45.0	44.0		450	-3.3	1.0	4	dbSNP_134	44	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	QDPR	NM_000320.2		0,8,6495	AA,AG,GG		0.0814,0.0227,0.0615		150/245	17493950	8,12998	2203	4300	6503	17103048	SO:0001819	synonymous_variant	5860	exon5			AB053170	CCDS3421.1	4p15.31	2014-04-01			ENSG00000151552	ENSG00000151552	1.5.1.34	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	9752	protein-coding gene	gene with protein product	"""6,7-dihydropteridine reductase"", ""short chain dehydrogenase/reductase family 33C, member 1"""	612676				19027726	Standard	NM_000320		Approved	DHPR, PKU2, SDR33C1	uc003gpd.3	P09417	OTTHUMG00000128537	ENST00000281243.5:c.450C>T	4.37:g.17493950G>A			17103048	NM_000320	A8K158|B3KW71|Q53F52|Q9H3M5	Silent	SNP	ENST00000281243.5	37	CCDS3421.1																																																																																				0.607	QDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250372.1	NM_000320	
FAM218A	152756	hgsc.bcm.edu	37	4	165878332	165878332	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:165878332G>A	ENST00000513876.2	+	1	233	c.158G>A	c.(157-159)cGc>cAc	p.R53H	TRIM61_ENST00000329314.5_Intron	NM_153027.1	NP_694572.1	Q96MZ4	F218A_HUMAN	family with sequence similarity 218, member A	53								p.R53H(1)									ACCGGCGGCCGCCATGGCAGT	0.617																																					p.R53H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G158A	4						.						23.0	22.0	22.0					4																	165878332		2203	4300	6503	166097782	SO:0001583	missense	152756	exon1			AK056221	CCDS3807.1	4q32.3	2012-03-01	2012-03-01	2012-03-01	ENSG00000250486	ENSG00000250486			26466	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 39"""	C4orf39		12477932	Standard	NM_153027		Approved	FLJ31659	uc003iqx.1	Q96MZ4	OTTHUMG00000161252	ENST00000513876.2:c.158G>A	4.37:g.165878332G>A	ENSP00000427428:p.Arg53His		166097782	NM_153027		Missense_Mutation	SNP	ENST00000513876.2	37	CCDS3807.1	.	.	.	.	.	.	.	.	.	.	g	9.526	1.109442	0.20714	.	.	ENSG00000250486	ENST00000513876	T	0.56103	0.48	0.543	0.543	0.17179	.	.	.	.	.	T	0.38081	0.1027	N	0.08118	0	0.09310	N	1	D	0.63880	0.993	P	0.50970	0.655	T	0.25984	-1.0116	8	0.87932	D	0	.	.	.	.	.	53	Q96MZ4	CD039_HUMAN	H	53	ENSP00000427428:R53H	ENSP00000427428:R53H	R	+	2	0	C4orf39	166097782	0.000000	0.05858	0.005000	0.12908	0.011000	0.07611	-1.082000	0.03400	0.533000	0.28675	0.187000	0.17357	CGC		0.617	FAM218A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364308.1	NM_153027	
MFAP3L	9848	hgsc.bcm.edu	37	4	170912911	170912911	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:170912911C>A	ENST00000361618.3	-	3	1155	c.848G>T	c.(847-849)aGg>aTg	p.R283M	MFAP3L_ENST00000393704.3_Missense_Mutation_p.R180M|RP11-6E9.4_ENST00000508955.1_RNA	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R283M(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		GACCTCATCCCTGTCTGCGGC	0.587																																					p.R283M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G848T	4						.						56.0	55.0	56.0					4																	170912911		2203	4300	6503	171149486	SO:0001583	missense	9848	exon3			AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"""Immunoglobulin superfamily / I-set domain containing"""	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.848G>T	4.37:g.170912911C>A	ENSP00000354583:p.Arg283Met		171149486	NM_021647	A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Missense_Mutation	SNP	ENST00000361618.3	37	CCDS34103.1	.	.	.	.	.	.	.	.	.	.	C	9.290	1.050386	0.19827	.	.	ENSG00000198948	ENST00000393704;ENST00000361618	D;D	0.98135	-4.74;-1.76	5.53	3.79	0.43588	.	0.657890	0.16754	N	0.200940	D	0.92577	0.7642	N	0.08118	0	0.80722	D	1	P	0.44241	0.829	B	0.42738	0.396	D	0.89571	0.3813	10	0.48119	T	0.1	-22.0576	7.1097	0.25382	0.0:0.5006:0.345:0.1544	.	283	O75121	MFA3L_HUMAN	M	180;283	ENSP00000377307:R180M;ENSP00000354583:R283M	ENSP00000354583:R283M	R	-	2	0	MFAP3L	171149486	0.000000	0.05858	0.734000	0.30879	0.013000	0.08279	0.311000	0.19380	0.691000	0.31592	-0.142000	0.14014	AGG		0.587	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647	
AADAT	51166	hgsc.bcm.edu	37	4	171008353	171008353	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:171008353G>A	ENST00000337664.4	-	3	559	c.283C>T	c.(283-285)Cat>Tat	p.H95Y	AADAT_ENST00000515480.1_Missense_Mutation_p.H95Y|AADAT_ENST00000509167.1_Missense_Mutation_p.H99Y|AADAT_ENST00000353187.2_Missense_Mutation_p.H95Y	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	95					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	mitochondrial matrix (GO:0005759)	2-aminoadipate transaminase activity (GO:0047536)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.H95Y(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)		GGAGGATTATGCAATTTTATT	0.358																																					p.H95Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C283T	4						.						175.0	168.0	171.0					4																	171008353		2203	4300	6503	171244928	SO:0001583	missense	51166	exon4			AF097994	CCDS3814.1, CCDS75209.1	4q33	2010-12-09			ENSG00000109576	ENSG00000109576	2.6.1.39		17929	protein-coding gene	gene with protein product	"""kynurenine aminotransferase II"", ""L kynurenine/alpha aminoadipate aminotransferase"""	611754				12126930, 10441733	Standard	NM_182662		Approved	KATII, KAT2	uc003isr.3	Q8N5Z0	OTTHUMG00000160912	ENST00000337664.4:c.283C>T	4.37:g.171008353G>A	ENSP00000336808:p.His95Tyr		171244928	NM_182662	B3KP84|Q9UL02	Missense_Mutation	SNP	ENST00000337664.4	37	CCDS3814.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065134	0.76187	.	.	ENSG00000109576	ENST00000337664;ENST00000515480;ENST00000509167;ENST00000353187;ENST00000510340;ENST00000507375;ENST00000502392	D;D;D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64	4.7	4.7	0.59300	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.95475	0.8530	M	0.82823	2.61	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95609	0.8670	10	0.56958	D	0.05	-24.4483	17.2674	0.87090	0.0:0.0:1.0:0.0	.	99;95	Q8N5Z0-2;Q8N5Z0	.;AADAT_HUMAN	Y	95;95;99;95;86;95;95	ENSP00000336808:H95Y;ENSP00000423341:H95Y;ENSP00000423190:H99Y;ENSP00000226840:H95Y;ENSP00000425067:H86Y;ENSP00000421389:H95Y;ENSP00000423843:H95Y	ENSP00000336808:H95Y	H	-	1	0	AADAT	171244928	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.866000	0.87056	2.546000	0.85860	0.650000	0.86243	CAT		0.358	AADAT-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362952.1	NM_016228	
GPM6A	2823	hgsc.bcm.edu	37	4	176622760	176622760	+	Silent	SNP	T	T	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:176622760T>G	ENST00000280187.7	-	3	241	c.196A>C	c.(196-198)Aga>Cga	p.R66R	GPM6A_ENST00000393658.2_Silent_p.R66R|GPM6A_ENST00000515090.1_Silent_p.R59R|GPM6A_ENST00000506894.1_Silent_p.R55R	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	66					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.R66R(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)		CCAGCAGTTCTTGCCATCTCA	0.418																																					p.R66R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A196C	4						.						161.0	151.0	155.0					4																	176622760		2203	4300	6503	176859754	SO:0001819	synonymous_variant	2823	exon2				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.196A>C	4.37:g.176622760T>G			176859754	NM_201591	B7Z642|E9PHI5|Q92602	Silent	SNP	ENST00000280187.7	37	CCDS3824.1																																																																																				0.418	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1		
DCTD	1635	hgsc.bcm.edu	37	4	183836205	183836205	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:183836205C>T	ENST00000438320.2	-	3	405	c.115G>A	c.(115-117)Gcc>Acc	p.A39T	DCTD_ENST00000513383.1_5'UTR|DCTD_ENST00000357067.3_Missense_Mutation_p.A50T|DCTD_ENST00000510370.1_Missense_Mutation_p.A39T	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	39					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.A39T(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)	ACGATGCAGGCGCCGACCTAG	0.532																																					p.A39T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G115A	4						.						132.0	110.0	118.0					4																	183836205		2203	4300	6503	184073199	SO:0001583	missense	1635	exon3			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.115G>A	4.37:g.183836205C>T	ENSP00000398194:p.Ala39Thr		184073199	NM_001921	B2R836|D3DP49|D3DP50|Q5M7Z8|Q9BVD8	Missense_Mutation	SNP	ENST00000438320.2	37	CCDS3831.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797457	0.90538	.	.	ENSG00000129187	ENST00000357067;ENST00000438320;ENST00000510370;ENST00000503182;ENST00000510307;ENST00000512766;ENST00000514754;ENST00000503820;ENST00000503988	T;T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.16	5.16	0.70880	Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.000000	0.85682	D	0.000000	D	0.87313	0.6146	H	0.95712	3.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68943	0.961;0.958	D	0.90622	0.4560	10	0.87932	D	0	0.0273	19.2125	0.93763	0.0:1.0:0.0:0.0	.	50;39	P32321-2;P32321	.;DCTD_HUMAN	T	50;39;39;39;39;39;39;39;39	ENSP00000349576:A50T;ENSP00000398194:A39T;ENSP00000424017:A39T;ENSP00000422662:A39T;ENSP00000424050:A39T;ENSP00000423182:A39T;ENSP00000423894:A39T;ENSP00000421792:A39T;ENSP00000422729:A39T	ENSP00000349576:A50T	A	-	1	0	DCTD	184073199	1.000000	0.71417	0.994000	0.49952	0.389000	0.30415	7.303000	0.78871	2.840000	0.97914	0.655000	0.94253	GCC		0.532	DCTD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361743.2		
ACSL1	2180	hgsc.bcm.edu	37	4	185697680	185697680	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:185697680G>A	ENST00000515030.1	-	7	1039	c.714C>T	c.(712-714)ggC>ggT	p.G238G	ACSL1_ENST00000281455.2_Silent_p.G238G|ACSL1_ENST00000513317.1_Silent_p.G238G|ACSL1_ENST00000454703.2_Silent_p.G67G|ACSL1_ENST00000504342.1_Silent_p.G238G|ACSL1_ENST00000504900.1_Silent_p.G238G|ACSL1_ENST00000437665.3_Silent_p.G67G|ACSL1_ENST00000507295.1_Silent_p.G204G			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	238					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.G238G(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CACACCTCTGGCCTCGTTCCA	0.522																																					p.G238G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C714T	4						.						143.0	135.0	138.0					4																	185697680		2203	4300	6503	185934674	SO:0001819	synonymous_variant	2180	exon7			BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.714C>T	4.37:g.185697680G>A			185934674	NM_001995	B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Silent	SNP	ENST00000515030.1	37	CCDS3839.1																																																																																				0.522	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995	
NOP14	8602	hgsc.bcm.edu	37	4	2943381	2943381	+	Silent	SNP	G	G	A	rs145217204		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:2943381G>A	ENST00000314262.6	-	15	2175	c.2127C>T	c.(2125-2127)caC>caT	p.H709H	NOP14-AS1_ENST00000507999.1_RNA|NOP14_ENST00000507120.1_5'UTR|NOP14_ENST00000416614.2_Silent_p.H709H|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Silent_p.H709H|NOP14-AS1_ENST00000512712.2_RNA|NOP14-AS1_ENST00000505731.1_RNA|NOP14_ENST00000502735.1_Silent_p.H709H|NOP14-AS1_ENST00000512802.1_RNA|NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000515194.1_RNA	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	709					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)	p.H709H(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CCATGATGGCGTGGAAGGATG	0.667																																					p.H709H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2127T	4						.	G		0,4404		0,0,2202	50.0	50.0	50.0		2127	-4.9	0.0	4	dbSNP_134	50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NOP14	NM_003703.1		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		709/858	2943381	1,13003	2202	4300	6502	2913179	SO:0001819	synonymous_variant	8602	exon15			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.2127C>T	4.37:g.2943381G>A			2913179	NM_003703	D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Silent	SNP	ENST00000314262.6	37	CCDS33945.1																																																																																				0.667	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703	
NSG1	27065	hgsc.bcm.edu	37	4	4389442	4389442	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:4389442C>T	ENST00000421177.2	+	6	2077	c.86C>T	c.(85-87)aCg>aTg	p.T29M	NSG1_ENST00000433139.2_Missense_Mutation_p.T29M|NSG1_ENST00000504171.1_Missense_Mutation_p.T29M|NSG1_ENST00000513555.1_Missense_Mutation_p.T29M|NSG1_ENST00000506380.1_Missense_Mutation_p.T29M|NSG1_ENST00000397958.1_Missense_Mutation_p.T29M|NSG1_ENST00000505246.1_Missense_Mutation_p.T29M			P42857	NSG1_HUMAN		29					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.T29M(1)									CCCCTGATGACGCCCCTCGAT	0.627																																					p.T29M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C86T	4						.						84.0	78.0	80.0					4																	4389442		2203	4300	6503	4440343	SO:0001583	missense	27065	exon2																														ENST00000421177.2:c.86C>T	4.37:g.4389442C>T	ENSP00000388823:p.Thr29Met		4440343	NM_001040101	B4DXC5|Q49AQ1	Missense_Mutation	SNP	ENST00000421177.2	37	CCDS3376.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299521	0.81136	.	.	ENSG00000168824	ENST00000421177;ENST00000513555;ENST00000505246;ENST00000506380;ENST00000397958;ENST00000433139;ENST00000504171	.	.	.	3.58	3.58	0.41010	.	0.000000	0.64402	D	0.000005	T	0.76800	0.4038	M	0.66939	2.045	0.54753	D	0.999981	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.81031	-0.1117	9	0.87932	D	0	-30.0833	15.5627	0.76262	0.0:1.0:0.0:0.0	.	29;29	B4DXC5;P42857	.;NSG1_HUMAN	M	29	.	ENSP00000381049:T29M	T	+	2	0	AC110814.1	4440343	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.972000	0.63756	1.720000	0.51447	0.491000	0.48974	ACG		0.627	NSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246799.1		
STK32B	55351	hgsc.bcm.edu	37	4	5170125	5170125	+	Silent	SNP	C	C	A	rs371890370	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:5170125C>A	ENST00000282908.5	+	3	630	c.208C>A	c.(208-210)Cgg>Agg	p.R70R	STK32B_ENST00000512636.1_Silent_p.R23R|STK32B_ENST00000510398.1_Silent_p.R23R	NM_018401.1	NP_060871.1			serine/threonine kinase 32B									p.R70R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						GAATGTTTTCCGGGAGCTGCA	0.537																																					p.R70R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C208A	4						.						100.0	90.0	93.0					4																	5170125		2203	4300	6503	5221026	SO:0001819	synonymous_variant	55351	exon3			AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.208C>A	4.37:g.5170125C>A			5221026	NM_018401		Silent	SNP	ENST00000282908.5	37	CCDS3380.1																																																																																				0.537	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401	
TLR6	10333	hgsc.bcm.edu	37	4	38828822	38828822	+	Missense_Mutation	SNP	C	C	T	rs55963748	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:38828822C>T	ENST00000381950.1	-	1	2338	c.2273G>A	c.(2272-2274)cGg>cAg	p.R758Q	TLR6_ENST00000436693.2_Missense_Mutation_p.R758Q			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	758	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|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)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.R758Q(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAAATAAGTCCGCTGCGTCAT	0.433													C|||	3	0.000599042	0.0	0.0	5008	,	,		19222	0.0		0.001	False		,,,				2504	0.002				p.R758Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G2273A	4						.						123.0	124.0	124.0					4																	38828822		2203	4300	6503	38505217	SO:0001583	missense	10333	exon2				CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"""CD molecules"""	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.2273G>A	4.37:g.38828822C>T	ENSP00000371376:p.Arg758Gln		38505217	NM_006068	B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	C	9.596	1.127390	0.20959	.	.	ENSG00000174130	ENST00000436693;ENST00000381950;ENST00000508542	D;D	0.83163	-1.69;-1.69	4.94	4.1	0.47936	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.244798	0.32952	N	0.005456	T	0.76557	0.4004	L	0.59436	1.845	0.24849	N	0.992417	P	0.35139	0.486	B	0.18871	0.023	T	0.71563	-0.4555	10	0.72032	D	0.01	.	12.8415	0.57805	0.0:0.9205:0.0:0.0795	rs55963748	758	Q9Y2C9	TLR6_HUMAN	Q	758;758;442	ENSP00000389600:R758Q;ENSP00000371376:R758Q	ENSP00000371376:R758Q	R	-	2	0	TLR6	38505217	0.082000	0.21442	0.404000	0.26397	0.278000	0.26855	2.463000	0.45058	1.303000	0.44873	0.561000	0.74099	CGG		0.433	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1		
RBM47	54502	hgsc.bcm.edu	37	4	40440358	40440358	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:40440358C>T	ENST00000381793.2	-	3	949	c.553G>A	c.(553-555)Gcc>Acc	p.A185T	RBM47_ENST00000295971.7_Missense_Mutation_p.A185T|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000319592.4_Missense_Mutation_p.A185T|RBM47_ENST00000514014.1_Missense_Mutation_p.A147T|RBM47_ENST00000381795.6_Missense_Mutation_p.A185T			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	185	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A185T(3)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GCCGCGCTGGCGTAGACGATC	0.647																																					p.A185T												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G553A	4						.						62.0	56.0	58.0					4																	40440358		2202	4298	6500	40135115	SO:0001583	missense	54502	exon3			AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.553G>A	4.37:g.40440358C>T	ENSP00000371212:p.Ala185Thr		40135115	NM_019027	A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752446	0.69533	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473	T;T;T;T;T;T;T	0.22945	3.47;2.45;3.47;2.45;2.45;3.47;1.93	5.8	5.8	0.92144	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.25269	0.0614	N	0.02011	-0.69	0.80722	D	1	D;B	0.71674	0.998;0.043	P;B	0.60068	0.868;0.082	T	0.52283	-0.8596	10	0.54805	T	0.06	-19.4096	20.0591	0.97667	0.0:1.0:0.0:0.0	.	185;185	A0AV96-2;A0AV96	.;RBM47_HUMAN	T	185;185;185;185;147;185;185	ENSP00000320108:A185T;ENSP00000371212:A185T;ENSP00000371214:A185T;ENSP00000295971:A185T;ENSP00000423243:A147T;ENSP00000422564:A185T;ENSP00000421589:A185T	ENSP00000295971:A185T	A	-	1	0	RBM47	40135115	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	6.079000	0.71291	2.747000	0.94245	0.462000	0.41574	GCC		0.647	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027	
UCHL1	7345	hgsc.bcm.edu	37	4	41263795	41263795	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:41263795C>T	ENST00000284440.4	+	5	533	c.389C>T	c.(388-390)gCa>gTa	p.A130V	UCHL1_ENST00000508768.1_Missense_Mutation_p.A130V|UCHL1_ENST00000503431.1_Missense_Mutation_p.A130V|UCHL1_ENST00000512788.1_Missense_Mutation_p.A130V|UCHL1_ENST00000504818.1_3'UTR	NM_004181.4	NP_004172.2	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	130					adult walking behavior (GO:0007628)|axon target recognition (GO:0007412)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|cell proliferation (GO:0008283)|eating behavior (GO:0042755)|muscle fiber development (GO:0048747)|negative regulation of MAP kinase activity (GO:0043407)|neuromuscular process (GO:0050905)|protein deubiquitination (GO:0016579)|response to ischemia (GO:0002931)|sensory perception of pain (GO:0019233)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	alpha-2A adrenergic receptor binding (GO:0031694)|cysteine-type endopeptidase activity (GO:0004197)|ligase activity (GO:0016874)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.A130V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						GAAGACAGAGCAAAATGCTTT	0.343																																					p.A130V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C389T	4						.						85.0	91.0	89.0					4																	41263795		2203	4300	6503	40958552	SO:0001583	missense	7345	exon5			BC000332	CCDS3462.1	4p13	2011-07-21			ENSG00000154277	ENSG00000154277	3.4.19.12	"""Parkinson disease"""	12513	protein-coding gene	gene with protein product		191342		PARK5		1840236	Standard	NM_004181		Approved	PGP9.5, Uch-L1	uc003gvo.3	P09936	OTTHUMG00000099377	ENST00000284440.4:c.389C>T	4.37:g.41263795C>T	ENSP00000284440:p.Ala130Val		40958552	NM_004181	Q4W5K6|Q71UM0	Missense_Mutation	SNP	ENST00000284440.4	37	CCDS3462.1	.	.	.	.	.	.	.	.	.	.	C	31	5.071124	0.93950	.	.	ENSG00000154277	ENST00000503431;ENST00000284440;ENST00000508768;ENST00000512788	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.03	5.03	0.67393	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.000000	0.85682	D	0.000000	D	0.85392	0.5686	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.88401	0.3015	10	0.87932	D	0	-15.194	18.5368	0.91013	0.0:1.0:0.0:0.0	.	130	P09936	UCHL1_HUMAN	V	130	ENSP00000422542:A130V;ENSP00000284440:A130V;ENSP00000426895:A130V;ENSP00000423623:A130V	ENSP00000284440:A130V	A	+	2	0	UCHL1	40958552	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	6.998000	0.76277	2.622000	0.88805	0.655000	0.94253	GCA		0.343	UCHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216827.1	NM_004181	
DCAF4L1	285429	hgsc.bcm.edu	37	4	41984044	41984044	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:41984044G>A	ENST00000333141.5	+	1	332	c.235G>A	c.(235-237)Gcg>Acg	p.A79T		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	79								p.A79T(2)		breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						CTTCATTCTGGCGAGTACCAA	0.537																																					p.A79T												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G235A	4						.						89.0	77.0	81.0					4																	41984044		2203	4300	6503	41678801	SO:0001583	missense	285429	exon1			BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.235G>A	4.37:g.41984044G>A	ENSP00000327796:p.Ala79Thr		41678801	NM_001029955	B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	ENST00000333141.5	37	CCDS33978.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.288860	0.59976	.	.	ENSG00000182308	ENST00000333141	T	0.42900	0.96	0.688	0.688	0.18027	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.046428	0.85682	D	0.000000	T	0.45094	0.1325	M	0.70275	2.135	0.38765	D	0.954419	P	0.43392	0.805	P	0.45506	0.483	T	0.56408	-0.7984	9	0.72032	D	0.01	.	.	.	.	.	79	Q3SXM0	DC4L1_HUMAN	T	79	ENSP00000327796:A79T	ENSP00000327796:A79T	A	+	1	0	DCAF4L1	41678801	0.997000	0.39634	0.430000	0.26722	0.341000	0.28922	4.428000	0.59894	0.635000	0.30488	0.313000	0.20887	GCG		0.537	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955	
ATP8A1	10396	hgsc.bcm.edu	37	4	42629022	42629022	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:42629022T>C	ENST00000381668.5	-	2	385	c.154A>G	c.(154-156)Aac>Gac	p.N52D	ATP8A1_ENST00000264449.10_Missense_Mutation_p.N52D|ATP8A1_ENST00000510289.1_Missense_Mutation_p.N52D	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	52					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|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.N52D(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CTGACATGGTTATTGCAGAAT	0.453																																					p.N52D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A154G	4						.						106.0	96.0	100.0					4																	42629022		2203	4300	6503	42323779	SO:0001583	missense	10396	exon2			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.154A>G	4.37:g.42629022T>C	ENSP00000371084:p.Asn52Asp		42323779	NM_006095	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.886651	0.91814	.	.	ENSG00000124406	ENST00000381668;ENST00000264449;ENST00000510289	D;D	0.98633	-5.04;-5.04	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.99321	0.9762	H	0.94345	3.525	0.80722	D	1	P;D;D	0.76494	0.956;0.989;0.999	P;P;D	0.64595	0.899;0.773;0.927	D	0.98773	1.0729	10	0.87932	D	0	.	15.8637	0.79047	0.0:0.0:0.0:1.0	.	52;52;52	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	D	52	ENSP00000371084:N52D;ENSP00000264449:N52D	ENSP00000264449:N52D	N	-	1	0	ATP8A1	42323779	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.698000	0.84413	2.136000	0.66102	0.533000	0.62120	AAC		0.453	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095	
ATP10D	57205	hgsc.bcm.edu	37	4	47548736	47548736	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:47548736G>A	ENST00000273859.3	+	10	1761	c.1492G>A	c.(1492-1494)Gcc>Acc	p.A498T	ATP10D_ENST00000504445.1_Missense_Mutation_p.A483T	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	498					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|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.A498T(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AAAACCGAGAGCCCCCAGCTG	0.493																																					p.A498T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1492A	4						.						113.0	117.0	116.0					4																	47548736		2203	4300	6503	47243493	SO:0001583	missense	57205	exon10			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1492G>A	4.37:g.47548736G>A	ENSP00000273859:p.Ala498Thr		47243493	NM_020453	A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	6.455	0.452147	0.12283	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;T	0.38722	1.12;4.01	4.78	3.94	0.45596	HAD-like domain (1);	1.057200	0.07355	N	0.882995	T	0.27098	0.0664	N	0.17082	0.46	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.15870	0.014;0.001	T	0.24154	-1.0168	10	0.15952	T	0.53	-2.835	8.1531	0.31152	0.2514:0.0:0.7486:0.0	.	498;483	Q9P241;Q6PEW3	AT10D_HUMAN;.	T	498;483	ENSP00000273859:A498T;ENSP00000420909:A483T	ENSP00000273859:A498T	A	+	1	0	ATP10D	47243493	0.507000	0.26146	0.173000	0.22940	0.611000	0.37282	1.666000	0.37460	1.250000	0.43966	0.491000	0.48974	GCC		0.493	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453	
TXK	7294	hgsc.bcm.edu	37	4	48114448	48114448	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:48114448G>A	ENST00000264316.4	-	4	341	c.256C>T	c.(256-258)Caa>Taa	p.Q86*	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	86	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)	p.Q86*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						GCCTTGACTTGGATCTTCTCT	0.483																																					p.Q86X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C256T	4						.						137.0	142.0	140.0					4																	48114448		2203	4300	6503	47809205	SO:0001587	stop_gained	7294	exon4			L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.256C>T	4.37:g.48114448G>A	ENSP00000264316:p.Gln86*		47809205	NM_003328	Q14220	Nonsense_Mutation	SNP	ENST00000264316.4	37	CCDS3480.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254431	0.80135	.	.	ENSG00000074966	ENST00000264316;ENST00000506073	.	.	.	5.12	3.4	0.38934	.	1.434060	0.04389	N	0.362099	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	7.4674	0.27330	0.1926:0.0:0.8074:0.0	.	.	.	.	X	86	.	ENSP00000264316:Q86X	Q	-	1	0	TXK	47809205	0.266000	0.24112	0.607000	0.28956	0.756000	0.42949	0.374000	0.20501	0.752000	0.32923	0.563000	0.77884	CAA		0.483	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	NM_003328	
SPATA18	132671	hgsc.bcm.edu	37	4	52938116	52938116	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:52938116C>T	ENST00000295213.4	+	6	926	c.552C>T	c.(550-552)cgC>cgT	p.R184R	SPATA18_ENST00000506829.1_3'UTR|SPATA18_ENST00000419395.2_Silent_p.R152R	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	184					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)		p.R184R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AGGATGCCCGCCACAGAAACA	0.547																																					p.R184R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C552T	4						.						52.0	52.0	52.0					4																	52938116		2203	4300	6503	52632873	SO:0001819	synonymous_variant	132671	exon6			BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.552C>T	4.37:g.52938116C>T			52632873	NM_145263	B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Silent	SNP	ENST00000295213.4	37	CCDS3489.1																																																																																				0.547	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263	
FIP1L1	81608	hgsc.bcm.edu	37	4	54319248	54319249	+	Frame_Shift_Del	DEL	AG	AG	-	rs143671659		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	AG	AG	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:54319248_54319249delAG	ENST00000337488.6	+	16	1641_1642	c.1447_1448delAG	c.(1447-1449)agafs	p.R483fs	FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	483	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R487fs*3(2)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			agaACGCACCAGAGAGAGAGAG	0.47			T	PDGFRA	idiopathic hypereosinophilic syndrome																																p.483_483del			Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	.	.	2	Deletion - Frameshift(2)	large_intestine(1)|kidney(1)	c.1447_1448del	4						.																																			54014006	SO:0001589	frameshift_variant	81608	exon16			AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1447_1448delAG	4.37:g.54319258_54319259delAG	ENSP00000336752:p.Arg483fs		54014005	NM_030917	B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Frame_Shift_Del	DEL	ENST00000337488.6	37	CCDS3491.1																																																																																				0.470	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917	
EPHA5	2044	hgsc.bcm.edu	37	4	66535352	66535352	+	Missense_Mutation	SNP	G	G	A	rs368790458		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:66535352G>A	ENST00000273854.3	-	1	709	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	EPHA5_ENST00000432638.2_Missense_Mutation_p.R37W|EPHA5_ENST00000354839.4_Missense_Mutation_p.R37W|RP11-807H7.1_ENST00000509473.1_lincRNA|EPHA5_ENST00000511294.1_Missense_Mutation_p.R37W	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	37					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.R37W(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AGGGGAGCCCGTCGAGGTGCA	0.751										TSP Lung(17;0.13)																											p.R37W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C109T	4						.						13.0	16.0	15.0					4																	66535352		2187	4291	6478	66217947	SO:0001583	missense	2044	exon1			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.109C>T	4.37:g.66535352G>A	ENSP00000273854:p.Arg37Trp		66217947	NM_004439	Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879557	0.51801	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.74842	-0.79;-0.88;-0.76;-0.77	5.51	-0.612	0.11597	.	0.543068	0.15581	N	0.254926	T	0.57975	0.2090	N	0.14661	0.345	0.19575	N	0.999967	P;P;P;P	0.48589	0.857;0.857;0.912;0.857	B;B;B;B	0.42771	0.223;0.223;0.397;0.223	T	0.56050	-0.8043	10	0.46703	T	0.11	.	13.6403	0.62246	0.0:0.0:0.6952:0.3048	.	37;37;37;37	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	W	37	ENSP00000273854:R37W;ENSP00000389208:R37W;ENSP00000346899:R37W;ENSP00000427638:R37W	ENSP00000273854:R37W	R	-	1	2	EPHA5	66217947	0.785000	0.28726	0.937000	0.37676	0.757000	0.42996	0.108000	0.15396	0.093000	0.17368	-0.262000	0.10625	CGG		0.751	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439	
TMPRSS11A	339967	hgsc.bcm.edu	37	4	68788501	68788501	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:68788501G>T	ENST00000334830.7	-	7	1419	c.673C>A	c.(673-675)Ctt>Att	p.L225I	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.L222I|TMPRSS11A_ENST00000508048.1_Missense_Mutation_p.L221I			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	225	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.L225I(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						GCAGTGACAAGCCATGTGTTA	0.463																																					p.L225I	NSCLC(26;2 894 10941 14480 22546)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C673A	4						.						130.0	118.0	122.0					4																	68788501		2203	4300	6503	68471096	SO:0001583	missense	339967	exon7			AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"""Serine peptidases / Transmembrane"""	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.673C>A	4.37:g.68788501G>T	ENSP00000334611:p.Leu225Ile		68471096	NM_182606	J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Missense_Mutation	SNP	ENST00000334830.7	37	CCDS3519.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.366684	0.61513	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87	5.72	3.93	0.45458	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.153741	0.30277	N	0.009992	T	0.81964	0.4934	N	0.01874	-0.695	0.30162	N	0.802133	P;P	0.42456	0.78;0.78	P;P	0.47626	0.552;0.552	T	0.81187	-0.1047	10	0.49607	T	0.09	.	13.9967	0.64407	0.0:0.3104:0.6896:0.0	.	222;225	B5MDI9;Q6ZMR5	.;TM11A_HUMAN	I	221;225;222;189	ENSP00000426911:L221I;ENSP00000334611:L225I;ENSP00000379491:L222I;ENSP00000427621:L189I	ENSP00000334611:L225I	L	-	1	0	TMPRSS11A	68471096	1.000000	0.71417	0.947000	0.38551	0.843000	0.47879	3.106000	0.50322	0.692000	0.31613	0.655000	0.94253	CTT		0.463	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251433.3	NM_182606	
RUFY3	22902	hgsc.bcm.edu	37	4	71672354	71672354	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:71672354A>G	ENST00000381006.3	+	18	2420	c.1841A>G	c.(1840-1842)cAa>cGa	p.Q614R	RUFY3_ENST00000502653.1_Missense_Mutation_p.Q561R|RUFY3_ENST00000512331.1_3'UTR	NM_001037442.2	NP_001032519.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	0					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			CTGATGAAGCAATATTCTACC	0.463																																					p.Q614R												.	.	0			c.A1841G	4						.						131.0	123.0	126.0					4																	71672354		2203	4300	6503	71891218	SO:0001583	missense	22902	exon18			AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000381006.3:c.1841A>G	4.37:g.71672354A>G	ENSP00000370394:p.Gln614Arg		71891218	NM_001037442	B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000381006.3	37	CCDS34001.1	.	.	.	.	.	.	.	.	.	.	A	5.839	0.339018	0.11069	.	.	ENSG00000018189	ENST00000381006;ENST00000502653	T;T	0.04406	3.63;3.66	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.02571	0.0078	.	.	.	0.80722	D	1	B	0.33022	0.394	B	0.30782	0.12	T	0.37753	-0.9692	9	0.02654	T	1	-11.3818	13.7215	0.62730	1.0:0.0:0.0:0.0	.	614	Q7L099-3	.	R	614;561	ENSP00000370394:Q614R;ENSP00000425400:Q561R	ENSP00000370394:Q614R	Q	+	2	0	RUFY3	71891218	0.997000	0.39634	0.998000	0.56505	0.897000	0.52465	3.815000	0.55651	1.910000	0.55303	0.533000	0.62120	CAA		0.463	RUFY3-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252162.1	NM_014961	
ANXA3	306	hgsc.bcm.edu	37	4	79512752	79512752	+	Missense_Mutation	SNP	G	G	A	rs144535003		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:79512752G>A	ENST00000264908.6	+	7	837	c.458G>A	c.(457-459)cGg>cAg	p.R153Q	ANXA3_ENST00000503570.2_Missense_Mutation_p.R114Q|ANXA3_ENST00000512884.1_Missense_Mutation_p.R114Q	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	153					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)	p.R153Q(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GGTGACTTCCGGAAAGCTCTG	0.343																																					p.R153Q	GBM(2;126 157 27790 28920 42492)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G458A	4						.	G	GLN/ARG	0,4406		0,0,2203	135.0	138.0	137.0		458	1.1	1.0	4	dbSNP_134	137	1,8599	1.2+/-3.3	0,1,4299	no	missense	ANXA3	NM_005139.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	153/324	79512752	1,13005	2203	4300	6503	79731776	SO:0001583	missense	306	exon7			M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"""Annexins"""	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.458G>A	4.37:g.79512752G>A	ENSP00000264908:p.Arg153Gln		79731776	NM_005139	B2R9W6|Q6LET2	Missense_Mutation	SNP	ENST00000264908.6	37	CCDS3584.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238678	0.39598	0.0	1.16E-4	ENSG00000138772	ENST00000264908;ENST00000512884;ENST00000503570;ENST00000514171	T;T;T;T	0.03358	3.96;3.96;3.96;3.96	4.95	1.12	0.20585	Annexin repeat, conserved site (1);	0.348448	0.28901	N	0.013775	T	0.02119	0.0066	L	0.31476	0.935	0.40521	D	0.980831	D	0.54047	0.964	B	0.40825	0.341	T	0.51903	-0.8646	10	0.02654	T	1	.	6.1391	0.20249	0.2374:0.1356:0.627:0.0	.	153	P12429	ANXA3_HUMAN	Q	153;114;114;153	ENSP00000264908:R153Q;ENSP00000423068:R114Q;ENSP00000421015:R114Q;ENSP00000421512:R153Q	ENSP00000264908:R153Q	R	+	2	0	ANXA3	79731776	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.025000	0.41059	0.284000	0.22305	0.585000	0.79938	CGG		0.343	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252516.3	NM_005139	
PKD2	5311	hgsc.bcm.edu	37	4	88989191	88989191	+	Missense_Mutation	SNP	G	G	A	rs148869484	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:88989191G>A	ENST00000508588.1	+	8	1149	c.754G>A	c.(754-756)Gtt>Att	p.V252I	PKD2_ENST00000237596.2_Missense_Mutation_p.V834I|PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Missense_Mutation_p.V252I			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					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.V834I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TTCTAGTGGCGTTTCTTACGA	0.478																																					p.V834I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2500A	4						.	G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	134.0	122.0	126.0		2500	5.7	1.0	4	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	no	missense	PKD2	NM_000297.3	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	834/969	88989191	2,13004	2203	4300	6503	89208215	SO:0001583	missense	5311	exon13			U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.754G>A	4.37:g.88989191G>A	ENSP00000427131:p.Val252Ile		89208215	NM_000297	Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000508588.1	37		.	.	.	.	.	.	.	.	.	.	G	19.86	3.905737	0.72868	2.27E-4	1.16E-4	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	T;D;D	0.95885	-1.07;-3.84;-3.84	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.97139	0.9065	L	0.58669	1.825	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.96715	0.9528	10	0.46703	T	0.11	-22.8138	19.7939	0.96471	0.0:0.0:1.0:0.0	.	834	Q13563	PKD2_HUMAN	I	834;252;252	ENSP00000237596:V834I;ENSP00000427131:V252I;ENSP00000425289:V252I	ENSP00000237596:V834I	V	+	1	0	PKD2	89208215	1.000000	0.71417	0.969000	0.41365	0.128000	0.20619	9.183000	0.94887	2.668000	0.90789	0.563000	0.77884	GTT		0.478	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297	
GRID2	2895	hgsc.bcm.edu	37	4	94436408	94436408	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:94436408G>T	ENST00000282020.4	+	13	2297	c.2039G>T	c.(2038-2040)gGc>gTc	p.G680V	GRID2_ENST00000510992.1_Missense_Mutation_p.G585V	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	680					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.G680V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ATCCCTTATGGCACAGTCCTA	0.453																																					p.G680V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2039T	4						.						65.0	61.0	62.0					4																	94436408		2203	4300	6503	94655431	SO:0001583	missense	2895	exon13			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2039G>T	4.37:g.94436408G>T	ENSP00000282020:p.Gly680Val		94655431	NM_001510	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726634	0.89298	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.35236	1.32;1.32	5.1	5.1	0.69264	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.72787	0.3504	H	0.95043	3.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.82218	-0.0566	10	0.87932	D	0	.	18.8725	0.92320	0.0:0.0:1.0:0.0	.	585;680	E9PH24;O43424	.;GRID2_HUMAN	V	680;585	ENSP00000282020:G680V;ENSP00000421257:G585V	ENSP00000282020:G680V	G	+	2	0	GRID2	94655431	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.809000	0.99208	2.529000	0.85273	0.585000	0.79938	GGC		0.453	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2		
TRIML2	205860	hgsc.bcm.edu	37	4	189026085	189026085	+	Splice_Site	SNP	T	T	G	rs113404223	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr4:189026085T>G	ENST00000512729.1	-	2	415	c.41A>C	c.(40-42)aAg>aCg	p.K14T	TRIML2_ENST00000536972.1_Splice_Site_p.K64T|TRIML2_ENST00000326754.3_Splice_Site_p.K14T|TRIML2_ENST00000502707.1_5'Flank	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	14					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)	p.K14T(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CTGGAATAACTTCTATAGAGA	0.378																																					p.K14T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A41C	4						.						138.0	133.0	135.0					4																	189026085		2203	4299	6502	189263079	SO:0001630	splice_region_variant	205860	exon2			AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.40-1A>C	4.37:g.189026085T>G			189263079	NM_173553	B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	37	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	T	8.363	0.833459	0.16820	.	.	ENSG00000179046	ENST00000512729;ENST00000326754;ENST00000536972	T;T;T	0.59502	0.49;0.26;0.43	4.63	-0.939	0.10408	.	0.651748	0.13563	N	0.378629	T	0.31327	0.0793	L	0.27053	0.805	0.21967	N	0.999449	B;B;B	0.31485	0.325;0.286;0.121	B;B;B	0.24155	0.025;0.051;0.051	T	0.09975	-1.0650	10	0.26408	T	0.33	.	1.1652	0.01813	0.3135:0.0899:0.1624:0.4342	.	64;14;14	B7Z6J6;B7ZLC3;Q8N7C3	.;.;TRIMM_HUMAN	T	14;14;64	ENSP00000422581:K14T;ENSP00000317498:K14T;ENSP00000441236:K64T	ENSP00000317498:K14T	K	-	2	0	TRIML2	189263079	0.136000	0.22515	0.741000	0.31004	0.292000	0.27327	-0.055000	0.11807	-0.104000	0.12154	0.528000	0.53228	AAG		0.378	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553	Missense_Mutation
CLCN4	1183	hgsc.bcm.edu	37	X	10153202	10153202	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:10153202G>A	ENST00000380833.4	+	3	521	c.130G>A	c.(130-132)Gac>Aac	p.D44N	CLCN4_ENST00000380829.1_Missense_Mutation_p.D44N|CLCN4_ENST00000421085.2_Intron	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	44					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.D44N(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACGGGACACCGACAGACACAG	0.512																																					p.D44N	Melanoma(74;1050 1296 1576 30544 38374)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G130A	X						.						120.0	84.0	96.0					X																	10153202		2203	4300	6503	10113202	SO:0001583	missense	1183	exon3			X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.130G>A	X.37:g.10153202G>A	ENSP00000370213:p.Asp44Asn		10113202	NM_001830	A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.379068	0.42207	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000454850	D;D;T	0.91068	-2.78;-2.78;1.07	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.84929	0.5581	L	0.50919	1.6	0.80722	D	1	P	0.39535	0.677	B	0.23716	0.048	D	0.84236	0.0469	10	0.18710	T	0.47	-37.9402	17.4129	0.87492	0.0:0.0:1.0:0.0	.	44	P51793	CLCN4_HUMAN	N	44	ENSP00000370213:D44N;ENSP00000370209:D44N;ENSP00000403064:D44N	ENSP00000370209:D44N	D	+	1	0	CLCN4	10113202	1.000000	0.71417	0.960000	0.40013	0.940000	0.58332	7.629000	0.83207	2.232000	0.73038	0.594000	0.82650	GAC		0.512	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1		
ARMCX1	51309	hgsc.bcm.edu	37	X	100808096	100808096	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:100808096C>T	ENST00000372829.3	+	4	554	c.183C>T	c.(181-183)aaC>aaT	p.N61N		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	61						integral component of membrane (GO:0016021)		p.N61N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						CTAAAACTAACGCTGGGGCAG	0.537																																					p.N61N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C183T	X						.						68.0	61.0	63.0					X																	100808096		2203	4300	6503	100694752	SO:0001819	synonymous_variant	51309	exon4			AB039670	CCDS14487.1	Xq21.33-q22.2	2014-03-21			ENSG00000126947	ENSG00000126947		"""Armadillo repeat containing"""	18073	protein-coding gene	gene with protein product		300362				11162520, 16221301, 22569362	Standard	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	Q9P291	OTTHUMG00000022033	ENST00000372829.3:c.183C>T	X.37:g.100808096C>T			100694752	NM_016608	Q53HK2|Q9H2Q0	Silent	SNP	ENST00000372829.3	37	CCDS14487.1																																																																																				0.537	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057561.1	NM_016608	
RBM41	55285	hgsc.bcm.edu	37	X	106359247	106359247	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:106359247T>A	ENST00000372479.3	-	3	193	c.163A>T	c.(163-165)Atg>Ttg	p.M55L	RBM41_ENST00000471079.1_5'UTR|RBM41_ENST00000372487.1_Missense_Mutation_p.M55L|RBM41_ENST00000203616.8_Missense_Mutation_p.M55L	NM_018301.3	NP_060771.3	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	55							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.M55L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						GGCTTGTACATAGTACCAGGA	0.443																																					p.M55L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A163T	X						.						85.0	72.0	76.0					X																	106359247		2203	4300	6503	106245903	SO:0001583	missense	55285	exon3			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.163A>T	X.37:g.106359247T>A	ENSP00000361557:p.Met55Leu		106245903	NM_001171080	Q5JSN7|Q5JSN8|Q9H8F7|Q9NV04	Missense_Mutation	SNP	ENST00000372479.3	37	CCDS14526.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.289|9.289	1.050162|1.050162	0.19827|0.19827	.|.	.|.	ENSG00000089682|ENSG00000089682	ENST00000372487;ENST00000372479;ENST00000203616;ENST00000372482|ENST00000434854	T;T|.	0.19105|.	2.17;2.17|.	5.5|5.5	1.6|1.6	0.23607|0.23607	.|.	0.240216|.	0.42964|.	D|.	0.000629|.	T|T	0.12603|0.12603	0.0306|0.0306	N|N	0.03608|0.03608	-0.345|-0.345	0.30112|0.30112	N|N	0.806484|0.806484	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.23226|0.23226	-1.0194|-1.0194	10|5	0.17369|.	T|.	0.5|.	.|.	3.0471|3.0471	0.06157|0.06157	0.0:0.2457:0.2232:0.531|0.0:0.2457:0.2232:0.531	.|.	55|.	Q96IZ5|.	RBM41_HUMAN|.	L|F	55|52	ENSP00000361565:M55L;ENSP00000361557:M55L|.	ENSP00000203616:M55L|.	M|Y	-|-	1|2	0|0	RBM41|RBM41	106245903|106245903	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	0.835000|0.835000	0.27531|0.27531	0.731000|0.731000	0.32448|0.32448	-0.451000|-0.451000	0.05528|0.05528	ATG|TAT		0.443	RBM41-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057819.1	NM_018301	
COL4A5	1287	hgsc.bcm.edu	37	X	107834294	107834294	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:107834294C>A	ENST00000361603.2	+	20	1416	c.1172C>A	c.(1171-1173)gCa>gAa	p.A391E	COL4A5_ENST00000328300.6_Missense_Mutation_p.A391E	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	391	Triple-helical region.				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.A391E(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						TTAGGGGCTGCAGTTATGGGT	0.418									Alport syndrome with Diffuse Leiomyomatosis																												p.A391E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1172A	X						.						51.0	47.0	48.0					X																	107834294		2203	4300	6503	107720950	SO:0001583	missense	1287	exon20	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.1172C>A	X.37:g.107834294C>A	ENSP00000354505:p.Ala391Glu		107720950	NM_000495	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	c	16.18	3.051198	0.55218	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.93366	-3.21;-3.21	5.26	5.26	0.73747	.	0.285136	0.34959	N	0.003542	D	0.85639	0.5743	N	0.08118	0	0.09310	N	1	B;B	0.33413	0.411;0.411	B;B	0.34824	0.19;0.19	T	0.71741	-0.4501	10	0.10902	T	0.67	.	18.0391	0.89314	0.0:1.0:0.0:0.0	.	391;391	E7EVY4;P29400	.;CO4A5_HUMAN	E	391	ENSP00000331902:A391E;ENSP00000354505:A391E	ENSP00000331902:A391E	A	+	2	0	COL4A5	107720950	0.399000	0.25287	0.082000	0.20525	0.831000	0.47069	3.495000	0.53280	2.196000	0.70406	0.540000	0.68198	GCA		0.418	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2		
NXT2	55916	hgsc.bcm.edu	37	X	108780176	108780176	+	5'UTR	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:108780176C>T	ENST00000372106.1	+	0	72				NXT2_ENST00000218004.1_Missense_Mutation_p.R36W|NXT2_ENST00000372103.1_5'Flank|NXT2_ENST00000372107.1_5'UTR	NM_001242617.1	NP_001229546.1	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2						mRNA transport (GO:0051028)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R36W(1)		endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						CCCTGCGGACCGGACACGTGA	0.582																																					p.R36W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C106T	X						.						74.0	55.0	61.0					X																	108780176		2203	4300	6503	108666832	SO:0001623	5_prime_UTR_variant	55916	exon2			AF246127	CCDS14546.1, CCDS56605.1, CCDS56606.1	Xq22.3	2008-02-05			ENSG00000101888	ENSG00000101888			18151	protein-coding gene	gene with protein product		300320				11073998	Standard	NM_018698		Approved	P15-2	uc004eoe.2	Q9NPJ8	OTTHUMG00000022185	ENST00000372106.1:c.-60C>T	X.37:g.108780176C>T			108666832	NM_018698	D3DUY1|Q0VAN8|Q5JYV5|Q5JYV6|Q5JYV7|Q9H8U0|Q9NQ64|Q9NRL7|Q9Y3M4|Q9Y3M5	Missense_Mutation	SNP	ENST00000372106.1	37	CCDS56605.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.572701	0.28092	.	.	ENSG00000101888	ENST00000218004	.	.	.	4.79	2.1	0.27182	.	0.811790	0.10359	N	0.684202	T	0.28034	0.0691	.	.	.	0.09310	N	0.999995	B	0.16396	0.017	B	0.14578	0.011	T	0.25082	-1.0142	8	0.49607	T	0.09	.	3.904	0.09174	0.1878:0.6107:0.0:0.2015	.	36	Q9NPJ8-3	.	W	36	.	ENSP00000218004:R36W	R	+	1	2	NXT2	108666832	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.703000	0.05063	0.320000	0.23234	-0.190000	0.12839	CGG		0.582	NXT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057886.1	NM_018698	
HCCS	3052	hgsc.bcm.edu	37	X	11132998	11132998	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:11132998G>T	ENST00000321143.4	+	3	346	c.144G>T	c.(142-144)aaG>aaT	p.K48N	HCCS_ENST00000380762.4_Missense_Mutation_p.K48N|Y_RNA_ENST00000384422.1_RNA|HCCS_ENST00000380763.3_Missense_Mutation_p.K48N	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	48					organ morphogenesis (GO:0009887)|oxidation-reduction process (GO:0055114)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	holocytochrome-c synthase activity (GO:0004408)|metal ion binding (GO:0046872)	p.K48N(1)		kidney(1)|large_intestine(3)|lung(3)	7						CCTGTGAGAAGAAAACATACT	0.488																																					p.K48N	Ovarian(86;1338 1347 1462 10340 37882)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G144T	X						.						129.0	102.0	111.0					X																	11132998		2203	4300	6503	11042919	SO:0001583	missense	3052	exon3				CCDS14139.1	Xp22	2014-01-31	2010-05-11		ENSG00000004961	ENSG00000004961	4.4.1.17		4837	protein-coding gene	gene with protein product	"""cytochrome c heme-lyase"""	300056	"""holocytochrome c synthase (cytochrome c heme-lyase)"", ""microphthalamia with linear skin defects"""	MLS		8364577, 12444108	Standard	NM_001122608		Approved	CCHL	uc004cuj.3	P53701	OTTHUMG00000021128	ENST00000321143.4:c.144G>T	X.37:g.11132998G>T	ENSP00000326579:p.Lys48Asn		11042919	NM_005333	B3KUS1|Q502X8	Missense_Mutation	SNP	ENST00000321143.4	37	CCDS14139.1	.	.	.	.	.	.	.	.	.	.	G	6.740	0.505414	0.12822	.	.	ENSG00000004961	ENST00000321143;ENST00000380763;ENST00000380762	D;D;D	0.82803	-1.65;-1.65;-1.65	4.81	2.02	0.26589	.	0.737735	0.14326	N	0.326707	T	0.59155	0.2173	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.45556	-0.9253	10	0.18276	T	0.48	-2.2233	6.4162	0.21717	0.0:0.6459:0.1598:0.1943	.	48	P53701	CCHL_HUMAN	N	48	ENSP00000326579:K48N;ENSP00000370140:K48N;ENSP00000370139:K48N	ENSP00000326579:K48N	K	+	3	2	HCCS	11042919	0.118000	0.22208	0.015000	0.15790	0.081000	0.17604	0.429000	0.21412	0.409000	0.25649	-0.216000	0.12614	AAG		0.488	HCCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055742.1		
CAPN6	827	hgsc.bcm.edu	37	X	110507143	110507143	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:110507143A>G	ENST00000324068.1	-	2	189	c.22T>C	c.(22-24)Ttc>Ctc	p.F8L	CAPN6_ENST00000541758.1_5'Flank	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	8					microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)	p.F8L(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TGGTTTTTGAAGAGCTTCAGA	0.393																																					p.F8L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T22C	X						.						217.0	191.0	200.0					X																	110507143		2203	4300	6503	110393799	SO:0001583	missense	827	exon2			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.22T>C	X.37:g.110507143A>G	ENSP00000317214:p.Phe8Leu		110393799	NM_014289	D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.584287	0.86748	.	.	ENSG00000077274	ENST00000324068	T	0.43294	0.95	5.53	5.53	0.82687	Peptidase C2, calpain, catalytic domain (1);	0.106115	0.64402	D	0.000004	T	0.60392	0.2265	M	0.70275	2.135	0.80722	D	1	D	0.65815	0.995	D	0.63488	0.915	T	0.64567	-0.6377	10	0.72032	D	0.01	.	12.1567	0.54081	1.0:0.0:0.0:0.0	.	8	Q9Y6Q1	CAN6_HUMAN	L	8	ENSP00000317214:F8L	ENSP00000317214:F8L	F	-	1	0	CAPN6	110393799	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.974000	0.70465	1.857000	0.53885	0.437000	0.28790	TTC		0.393	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1		
UPF3B	65109	hgsc.bcm.edu	37	X	118986826	118986826	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:118986826G>A	ENST00000276201.2	-	1	135	c.66C>T	c.(64-66)gcC>gcT	p.A22A	UPF3B_ENST00000345865.2_Silent_p.A22A	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	22					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.A22A(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						CGCTGCCTGTGGCCCCGGCGG	0.622																																					p.A22A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C66T	X						.						121.0	115.0	117.0					X																	118986826		2203	4300	6503	118870854	SO:0001819	synonymous_variant	65109	exon1			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.66C>T	X.37:g.118986826G>A			118870854	NM_080632	D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Silent	SNP	ENST00000276201.2	37	CCDS14588.1																																																																																				0.622	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1		
SH2D1A	4068	hgsc.bcm.edu	37	X	123480511	123480511	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:123480511T>C	ENST00000371139.4	+	1	318	c.19T>C	c.(19-21)Tat>Cat	p.Y7H	SH2D1A_ENST00000360027.4_Missense_Mutation_p.Y7H|SH2D1A_ENST00000477673.2_Missense_Mutation_p.Y7H|SH2D1A_ENST00000491950.1_3'UTR|STAG2_ENST00000469481.1_Intron	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	7	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.		Y -> C (in XLP1; reduced protein stability and reduced affinity for SLAMF1). {ECO:0000269|PubMed:11049992}.		cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|humoral immune response (GO:0006959)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)	p.Y7H(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AGTGGCTGTGTATCATGGCAA	0.602																																					p.Y7H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T19C	X						.						103.0	82.0	89.0					X																	123480511		2203	4300	6503	123308192	SO:0001583	missense	4068	exon1			AL023657	CCDS14608.1, CCDS48162.1	Xq25	2014-09-17	2010-04-21		ENSG00000183918	ENSG00000183918		"""SH2 domain containing"""	10820	protein-coding gene	gene with protein product	"""Duncan's disease"""	300490	"""lymphoproliferative syndrome"", ""SH2 domain protein 1A"""	IMD5, LYP		9771704, 9774102	Standard	NM_001114937		Approved	XLP, MTCP1, DSHP, XLPD, EBVS, SAP	uc004euf.4	O60880	OTTHUMG00000022344	ENST00000371139.4:c.19T>C	X.37:g.123480511T>C	ENSP00000360181:p.Tyr7His		123308192	NM_001114937	A8MSW0|O95383|O95384|O95385|O95386|Q6FGS6|Q9UNR0	Missense_Mutation	SNP	ENST00000371139.4	37	CCDS14608.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.142960	0.57044	.	.	ENSG00000183918	ENST00000371139;ENST00000360027;ENST00000394475	D;D	0.99418	-5.87;-5.87	5.51	5.51	0.81932	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.99585	0.9850	M	0.92077	3.27	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98119	1.0424	10	0.66056	D	0.02	-22.5327	12.4045	0.55432	0.0:0.0:0.0:1.0	.	7;7	O60880-4;O60880	.;SH21A_HUMAN	H	7	ENSP00000360181:Y7H;ENSP00000353126:Y7H	ENSP00000353126:Y7H	Y	+	1	0	SH2D1A	123308192	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	6.163000	0.71880	1.834000	0.53371	0.417000	0.27973	TAT		0.602	SH2D1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058174.1	NM_002351	
TENM1	10178	hgsc.bcm.edu	37	X	123517615	123517615	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:123517615G>T	ENST00000371130.3	-	29	7208	c.7145C>A	c.(7144-7146)gCt>gAt	p.A2382D	TENM1_ENST00000422452.2_Missense_Mutation_p.A2389D|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2382					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.A2384D(1)									CCATCTGCCAGCAACAACATC	0.418																																					p.A2382D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7145A	X						.						146.0	139.0	141.0					X																	123517615		2203	4300	6503	123345296	SO:0001583	missense	10178	exon29			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7145C>A	X.37:g.123517615G>T	ENSP00000360171:p.Ala2382Asp		123345296	NM_014253	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950360	0.73787	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86497	-2.13;-2.1	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.94345	0.8182	M	0.85710	2.77	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.985	D;D;P	0.83275	0.996;0.96;0.786	D	0.94834	0.7999	10	0.72032	D	0.01	.	18.7972	0.91999	0.0:0.0:1.0:0.0	.	2388;2389;2382	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	D	2382;2389	ENSP00000360171:A2382D;ENSP00000403954:A2389D	ENSP00000360171:A2382D	A	-	2	0	ODZ1	123345296	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	7.851000	0.86920	2.471000	0.83476	0.600000	0.82982	GCT		0.418	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
OCRL	4952	hgsc.bcm.edu	37	X	128691385	128691385	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:128691385C>A	ENST00000371113.4	+	5	487	c.322C>A	c.(322-324)Ctc>Atc	p.L108I	OCRL_ENST00000357121.5_Missense_Mutation_p.L108I|OCRL_ENST00000486673.1_3'UTR	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	108	PH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.L108I(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TTTGAAGTTCCTCTCAGCTGT	0.448																																					p.L108I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C322A	X						.						91.0	82.0	85.0					X																	128691385		2203	4300	6503	128519066	SO:0001583	missense	4952	exon5			U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.322C>A	X.37:g.128691385C>A	ENSP00000360154:p.Leu108Ile		128519066	NM_001587	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711877	0.68730	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.96265	-3.96;-3.96	5.32	1.57	0.23409	.	0.569091	0.17491	N	0.172344	D	0.95701	0.8602	L	0.34521	1.04	0.48901	D	0.999723	D;B	0.52996	0.957;0.155	D;B	0.83275	0.996;0.198	D	0.92530	0.6032	10	0.72032	D	0.01	.	6.1343	0.20223	0.0:0.6286:0.1326:0.2389	.	108;108	Q01968-2;Q01968	.;OCRL_HUMAN	I	108	ENSP00000360154:L108I;ENSP00000349635:L108I	ENSP00000349635:L108I	L	+	1	0	OCRL	128519066	0.997000	0.39634	0.995000	0.50966	0.997000	0.91878	1.378000	0.34328	-0.107000	0.12088	0.600000	0.82982	CTC		0.448	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276	
ARHGAP36	158763	hgsc.bcm.edu	37	X	130215818	130215818	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:130215818G>A	ENST00000276211.5	+	2	524	c.179G>A	c.(178-180)cGt>cAt	p.R60H	ARHGAP36_ENST00000370921.1_5'Flank|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R48H	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	60					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.R60H(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GAGCTGGAGCGTCTGAAGCTG	0.532																																					p.R60H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G179A	X						.						125.0	107.0	113.0					X																	130215818		2203	4300	6503	130043499	SO:0001583	missense	158763	exon2				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.179G>A	X.37:g.130215818G>A	ENSP00000276211:p.Arg60His		130043499	NM_144967	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358508	0.82243	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432	T;T;T	0.28666	1.6;1.61;1.68	4.16	4.16	0.48862	.	0.000000	0.47455	D	0.000238	T	0.40886	0.1135	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.994	T	0.30387	-0.9980	10	0.87932	D	0	.	10.8111	0.46547	0.0:0.0:1.0:0.0	.	29;48;60	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	H	60;48;12;29	ENSP00000276211:R60H;ENSP00000359960:R48H;ENSP00000408515:R29H	ENSP00000276211:R60H	R	+	2	0	ARHGAP36	130043499	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.627000	0.67784	2.315000	0.78130	0.544000	0.68410	CGT		0.532	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967	
IGSF1	3547	hgsc.bcm.edu	37	X	130417080	130417080	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:130417080T>G	ENST00000361420.3	-	6	905	c.826A>C	c.(826-828)Aaa>Caa	p.K276Q	IGSF1_ENST00000370904.1_Missense_Mutation_p.K267Q|IGSF1_ENST00000370910.1_Missense_Mutation_p.K267Q|IGSF1_ENST00000370903.3_Missense_Mutation_p.K276Q			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	276	Ig-like C2-type 3.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.K276Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GCCTCATTTTTTATTGTCTTC	0.403																																					p.K267Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A799C	X						.						112.0	97.0	102.0					X																	130417080		2203	4300	6503	130244761	SO:0001583	missense	3547	exon5			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.826A>C	X.37:g.130417080T>G	ENSP00000355010:p.Lys276Gln		130244761	NM_001170962	B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	T	7.935	0.741582	0.15642	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00686	5.85;5.85;5.85;5.85	4.64	3.39	0.38822	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.502564	0.17086	N	0.187588	T	0.00524	0.0017	N	0.05306	-0.075	0.23754	N	0.996937	B;P	0.35493	0.277;0.505	B;B	0.39617	0.155;0.305	T	0.52193	-0.8608	10	0.12103	T	0.63	.	6.9188	0.24376	0.0:0.0:0.2329:0.7671	.	267;276	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	Q	267;276;267;276	ENSP00000359947:K267Q;ENSP00000355010:K276Q;ENSP00000359941:K267Q;ENSP00000359940:K276Q	ENSP00000355010:K276Q	K	-	1	0	IGSF1	130244761	0.926000	0.31397	0.985000	0.45067	0.805000	0.45488	1.299000	0.33424	1.846000	0.53633	0.481000	0.45027	AAA		0.403	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1		
SLC9A6	10479	hgsc.bcm.edu	37	X	135092702	135092702	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:135092702C>G	ENST00000370698.3	+	7	940	c.905C>G	c.(904-906)tCt>tGt	p.S302C	SLC9A6_ENST00000370695.4_Missense_Mutation_p.S334C|SLC9A6_ENST00000370701.1_Missense_Mutation_p.S282C	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	302					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)	p.S302C(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TTCAGTGGATCTTTTGCAATG	0.393																																					p.S282C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C845G	X						.						241.0	187.0	205.0					X																	135092702		2203	4300	6503	134920368	SO:0001583	missense	10479	exon8			AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.905C>G	X.37:g.135092702C>G	ENSP00000359732:p.Ser302Cys		134920368	NM_001177651	A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423486	0.83559	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.16196	2.36;2.36;2.36	5.49	5.49	0.81192	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.50990	0.1648	M	0.91872	3.25	0.80722	D	1	D;P;D	0.63046	0.965;0.956;0.992	P;P;D	0.68039	0.83;0.637;0.955	T	0.63097	-0.6713	10	0.87932	D	0	.	17.2696	0.87097	0.0:1.0:0.0:0.0	.	282;334;302	B4DU30;Q92581-2;Q92581	.;.;SL9A6_HUMAN	C	282;302;334	ENSP00000359735:S282C;ENSP00000359732:S302C;ENSP00000359729:S334C	ENSP00000359729:S334C	S	+	2	0	SLC9A6	134920368	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.487000	0.81328	2.290000	0.77057	0.513000	0.50165	TCT		0.393	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359	
MAGEC2	51438	hgsc.bcm.edu	37	X	141290744	141290744	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:141290744C>T	ENST00000247452.3	-	3	1377	c.1030G>A	c.(1030-1032)Gtc>Atc	p.V344I		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	344	Interaction with TRIM28.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.V344I(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GTGGCCTGGACTCTCTCTTCC	0.463										HNSCC(46;0.14)																											p.V344I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1030A	X						.						161.0	137.0	145.0					X																	141290744		2203	4300	6503	141118410	SO:0001583	missense	51438	exon3			AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.1030G>A	X.37:g.141290744C>T	ENSP00000354660:p.Val344Ile		141118410	NM_016249	Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	8.521	0.868703	0.17322	.	.	ENSG00000046774	ENST00000247452	T	0.02067	4.47	0.798	0.798	0.18660	.	12.273100	0.00682	U	0.000692	T	0.03136	0.0092	L	0.38175	1.15	0.09310	N	1	B	0.16396	0.017	B	0.20184	0.028	T	0.43845	-0.9366	9	0.87932	D	0	.	.	.	.	.	344	Q9UBF1	MAGC2_HUMAN	I	344	ENSP00000354660:V344I	ENSP00000354660:V344I	V	-	1	0	MAGEC2	141118410	0.003000	0.15002	0.043000	0.18650	0.111000	0.19643	0.064000	0.14437	0.648000	0.30732	0.284000	0.19432	GTC		0.463	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249	
AFF2	2334	hgsc.bcm.edu	37	X	148044283	148044283	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:148044283A>G	ENST00000370460.2	+	13	3208	c.2729A>G	c.(2728-2730)gAa>gGa	p.E910G	AFF2_ENST00000370457.5_Missense_Mutation_p.E877G|AFF2_ENST00000342251.3_Missense_Mutation_p.E877G|AFF2_ENST00000286437.5_Missense_Mutation_p.E551G	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	910					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.E910G(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAAGGAAGAAAAACTATTT	0.423																																					p.E910G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2729G	X						.						56.0	53.0	54.0					X																	148044283		2203	4300	6503	147851979	SO:0001583	missense	2334	exon13			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2729A>G	X.37:g.148044283A>G	ENSP00000359489:p.Glu910Gly		147851979	NM_002025	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.781449	0.49891	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.87	4.7	0.59300	.	0.058151	0.64402	D	0.000005	T	0.64594	0.2612	M	0.71581	2.175	0.44595	D	0.997568	P;P;P;P;P;P	0.42296	0.543;0.734;0.734;0.734;0.734;0.775	B;B;B;B;B;B	0.39660	0.193;0.203;0.203;0.203;0.203;0.306	T	0.65055	-0.6261	10	0.51188	T	0.08	.	10.4414	0.44469	0.9232:0.0:0.0768:0.0	.	551;875;877;871;900;910	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	G	910;877;877;551	ENSP00000359489:E910G;ENSP00000359486:E877G;ENSP00000345459:E877G;ENSP00000286437:E551G	ENSP00000286437:E551G	E	+	2	0	AFF2	147851979	1.000000	0.71417	0.993000	0.49108	0.115000	0.19883	6.186000	0.72026	0.919000	0.36945	0.486000	0.48141	GAA		0.423	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	
AFF2	2334	hgsc.bcm.edu	37	X	148055087	148055087	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:148055087G>A	ENST00000370460.2	+	16	3833	c.3354G>A	c.(3352-3354)ctG>ctA	p.L1118L	AFF2_ENST00000370457.5_Silent_p.L1083L|AFF2_ENST00000342251.3_Silent_p.L1085L|AFF2_ENST00000286437.5_Silent_p.L759L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1118					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.L1118L(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GCGACCCTCTGGAAGCAAAGT	0.473																																					p.L1118L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3354A	X						.						172.0	130.0	144.0					X																	148055087		2203	4300	6503	147862776	SO:0001819	synonymous_variant	2334	exon16			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3354G>A	X.37:g.148055087G>A			147862776	NM_002025	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	CCDS14684.1																																																																																				0.473	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	
ARSF	416	hgsc.bcm.edu	37	X	3007574	3007574	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:3007574C>A	ENST00000381127.1	+	7	1089	c.868C>A	c.(868-870)Ctt>Att	p.L290I	ARSF_ENST00000359361.2_Missense_Mutation_p.L290I|ARSF_ENST00000537104.1_Missense_Mutation_p.L290I	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	290					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)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.L290I(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTTCTCCTTTCTTCACGTGCA	0.443																																					p.L290I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C868A	X						.						247.0	190.0	209.0					X																	3007574		2203	4300	6503	3017574	SO:0001583	missense	416	exon7			X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.868C>A	X.37:g.3007574C>A	ENSP00000370519:p.Leu290Ile		3017574	NM_004042	Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	C	8.586	0.883418	0.17467	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.98701	-5.08;-5.08;-5.08	3.0	1.98	0.26296	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.338710	0.25823	U	0.028080	D	0.97955	0.9327	M	0.67517	2.055	0.22171	N	0.999315	P	0.41546	0.754	P	0.56563	0.801	D	0.93044	0.6460	10	0.22109	T	0.4	.	5.113	0.14819	0.0:0.6044:0.0:0.3956	.	290	P54793	ARSF_HUMAN	I	290	ENSP00000370519:L290I;ENSP00000445594:L290I;ENSP00000352319:L290I	ENSP00000352319:L290I	L	+	1	0	ARSF	3017574	0.002000	0.14202	0.101000	0.21167	0.097000	0.18754	-0.801000	0.04550	1.389000	0.46526	0.540000	0.68198	CTT		0.443	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1		
ARSF	416	hgsc.bcm.edu	37	X	3028211	3028211	+	Silent	SNP	C	C	T	rs147511187	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:3028211C>T	ENST00000381127.1	+	10	1529	c.1308C>T	c.(1306-1308)aaC>aaT	p.N436N	ARSF_ENST00000359361.2_Silent_p.N436N|ARSF_ENST00000537104.1_Silent_p.N436N	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	436					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)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.N436N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGCAGGGCAACGTCAGGCACT	0.567													c|||	1	0.000264901	0.0008	0.0	3775	,	,		16037	0.0		0.0	False		,,,				2504	0.0				p.N436N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1308T	X						.	C	,,	0,3835		0,0,0,1632,571	121.0	86.0	98.0		1308,1308,1308	-5.6	0.0	X	dbSNP_134	98	6,6722		0,4,2,2424,1870	no	coding-synonymous,coding-synonymous,coding-synonymous	ARSF	NM_001201538.1,NM_001201539.1,NM_004042.4	,,	0,4,2,4056,2441	TT,TC,T,CC,C		0.0892,0.0,0.0568	,,	436/591,436/591,436/591	3028211	6,10557	2203	4300	6503	3038211	SO:0001819	synonymous_variant	416	exon10			X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.1308C>T	X.37:g.3028211C>T			3038211	NM_004042	Q8TCC5	Silent	SNP	ENST00000381127.1	37	CCDS14123.1																																																																																				0.567	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1		
PIGA	5277	hgsc.bcm.edu	37	X	15339705	15339705	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:15339705G>A	ENST00000333590.4	-	6	1462	c.1378C>T	c.(1378-1380)Cca>Tca	p.P460S	PIGA_ENST00000542278.1_Missense_Mutation_p.P226S|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000428964.1_Missense_Mutation_p.P145S	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	460					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|positive regulation of metabolic process (GO:0009893)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)|UDP-glycosyltransferase activity (GO:0008194)	p.P460S(1)		endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					GCACCCCGTGGCCCAGTGGCA	0.418																																					p.P226S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C676T	X						.						113.0	110.0	111.0					X																	15339705		2203	4300	6503	15249626	SO:0001583	missense	5277	exon5			BC038236	CCDS14165.1, CCDS48086.1, CCDS48086.2	Xp22.1	2014-09-17	2008-07-31		ENSG00000165195	ENSG00000165195	2.4.1.198	"""Glycosyltransferase group 1 domain containing"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8957	protein-coding gene	gene with protein product	"""paroxysmal nocturnal hemoglobinuria"", ""phosphatidylinositol N-acetylglucosaminyltransferase"""	311770	"""phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)"""			8500164	Standard	NM_002641		Approved	GPI3	uc004cwr.3	P37287	OTTHUMG00000021174	ENST00000333590.4:c.1378C>T	X.37:g.15339705G>A	ENSP00000369820:p.Pro460Ser		15249626	NM_020473	B4E0V2|Q16025|Q16250	Missense_Mutation	SNP	ENST00000333590.4	37	CCDS14165.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659721	0.29515	.	.	ENSG00000165195	ENST00000542278;ENST00000333590;ENST00000428964	.	.	.	5.52	5.52	0.82312	.	0.050410	0.85682	D	0.000000	T	0.73385	0.3580	L	0.42245	1.32	0.80722	D	1	B;D;D;P	0.89917	0.036;0.98;1.0;0.561	B;P;D;B	0.72075	0.014;0.736;0.976;0.264	T	0.74383	-0.3683	9	0.52906	T	0.07	-6.4714	17.4057	0.87473	0.0:0.0:1.0:0.0	.	226;291;460;460	B4E0V2;P37287-2;B2RCE0;P37287	.;.;.;PIGA_HUMAN	S	226;460;145	.	ENSP00000369820:P460S	P	-	1	0	PIGA	15249626	1.000000	0.71417	0.985000	0.45067	0.082000	0.17680	9.153000	0.94687	2.323000	0.78572	0.523000	0.50628	CCA		0.418	PIGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055854.1	NM_002641	
BMX	660	hgsc.bcm.edu	37	X	15568103	15568103	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:15568103T>C	ENST00000357607.2	+	18	2124	c.1936T>C	c.(1936-1938)Tac>Cac	p.Y646H	BMX_ENST00000348343.6_Missense_Mutation_p.Y646H|BMX_ENST00000342014.6_Missense_Mutation_p.Y646H			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	646	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.Y646H(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CCAGATCATGTACAGCTGCTG	0.557																																					p.Y646H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1936C	X						.						139.0	120.0	126.0					X																	15568103		2203	4300	6503	15478024	SO:0001583	missense	660	exon18			AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.1936T>C	X.37:g.15568103T>C	ENSP00000350224:p.Tyr646His		15478024	NM_203281	A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	T	10.95	1.495380	0.26774	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	D;D;D	0.82344	-1.6;-1.6;-1.6	5.68	3.31	0.37934	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.103605	0.43416	D	0.000569	T	0.65668	0.2713	N	0.16130	0.375	0.40271	D	0.978289	B	0.23316	0.083	B	0.30105	0.111	T	0.52578	-0.8557	10	0.17832	T	0.49	.	4.6309	0.12500	0.0:0.1727:0.1619:0.6653	.	646	P51813	BMX_HUMAN	H	646	ENSP00000350224:Y646H;ENSP00000308774:Y646H;ENSP00000340082:Y646H	ENSP00000340082:Y646H	Y	+	1	0	BMX	15478024	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.531000	0.23052	0.771000	0.33359	0.481000	0.45027	TAC		0.557	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721	
BEND2	139105	hgsc.bcm.edu	37	X	18230758	18230758	+	Missense_Mutation	SNP	A	A	G	rs183117899		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:18230758A>G	ENST00000380033.4	-	4	551	c.419T>C	c.(418-420)gTa>gCa	p.V140A	BEND2_ENST00000380030.3_Missense_Mutation_p.V140A	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	140								p.V140A(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TCTTAAATGTACTGGGTGGTT	0.333																																					p.V140A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T419C	X						.						178.0	162.0	168.0					X																	18230758		2203	4299	6502	18140679	SO:0001583	missense	139105	exon4			AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.419T>C	X.37:g.18230758A>G	ENSP00000369372:p.Val140Ala		18140679	NM_153346	E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	A	9.037	0.988782	0.18966	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.28255	1.68;1.62	3.14	-4.5	0.03493	.	2.534030	0.02129	N	0.056278	T	0.17408	0.0418	N	0.19112	0.55	0.09310	N	1	B;B	0.12630	0.006;0.002	B;B	0.06405	0.001;0.002	T	0.13255	-1.0516	10	0.72032	D	0.01	.	1.5802	0.02633	0.1228:0.3544:0.2185:0.3044	.	140;140	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	A	140	ENSP00000369372:V140A;ENSP00000369369:V140A	ENSP00000369369:V140A	V	-	2	0	BEND2	18140679	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.218000	0.02976	-1.508000	0.01800	-0.537000	0.04273	GTA		0.333	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346	
CDKL5	6792	hgsc.bcm.edu	37	X	18622375	18622375	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:18622375G>A	ENST00000379989.3	+	13	1616	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	CDKL5_ENST00000379996.3_Missense_Mutation_p.R444H|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	444			R -> C. {ECO:0000269|PubMed:16015284}.		neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.R444H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CAGCAGAACCGCCACTCATTC	0.463																																					p.R444H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1331A	X						.						124.0	123.0	124.0					X																	18622375		2203	4300	6503	18532296	SO:0001583	missense	6792	exon12			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1331G>A	X.37:g.18622375G>A	ENSP00000369325:p.Arg444His		18532296	NM_003159	G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402073	0.62288	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.75050	-0.9;-0.9	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.62950	0.2470	L	0.32530	0.975	0.39432	D	0.967103	P	0.38992	0.653	B	0.25291	0.059	T	0.66188	-0.5986	10	0.40728	T	0.16	-15.502	19.2753	0.94029	0.0:0.0:1.0:0.0	.	444	O76039	CDKL5_HUMAN	H	444	ENSP00000369332:R444H;ENSP00000369325:R444H	ENSP00000369325:R444H	R	+	2	0	CDKL5	18532296	1.000000	0.71417	0.984000	0.44739	0.954000	0.61252	9.455000	0.97625	2.504000	0.84457	0.600000	0.82982	CGC		0.463	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159	
PHKA2	5256	hgsc.bcm.edu	37	X	18936800	18936800	+	Splice_Site	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:18936800T>C	ENST00000379942.4	-	19	2801	c.2136A>G	c.(2134-2136)ccA>ccG	p.P712P		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	712					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.P712P(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					ATAACATACATGGAACTTCCA	0.388																																					p.P712P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2136G	X						.						111.0	95.0	100.0					X																	18936800		2203	4300	6503	18846721	SO:0001630	splice_region_variant	5256	exon19				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.2137+1A>G	X.37:g.18936800T>C			18846721	NM_000292	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Silent	SNP	ENST00000379942.4	37	CCDS14190.1																																																																																				0.388	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292	Silent
ZFX	7543	hgsc.bcm.edu	37	X	24228885	24228885	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:24228885C>T	ENST00000379177.1	+	11	2237	c.1810C>T	c.(1810-1812)Cca>Tca	p.P604S	ZFX_ENST00000338565.3_Missense_Mutation_p.P554S|ZFX_ENST00000379188.3_Missense_Mutation_p.P604S|ZFX_ENST00000539115.1_Missense_Mutation_p.P375S|ZFX_ENST00000304543.5_Missense_Mutation_p.P604S|ZFX_ENST00000540034.1_Missense_Mutation_p.P643S	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	604					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)	p.P604S(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TAAAGAGATGCCATTCAAGTG	0.433																																					p.P375S	Esophageal Squamous(20;306 562 7346 32868 37983)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1123T	X						.						120.0	99.0	106.0					X																	24228885		2203	4300	6503	24138806	SO:0001583	missense	7543	exon6				CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.1810C>T	X.37:g.24228885C>T	ENSP00000368475:p.Pro604Ser		24138806	NM_001178086	B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	ENST00000379177.1	37	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.011931	0.54468	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61	5.31	5.31	0.75309	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.082464	0.51477	D	0.000088	T	0.34424	0.0897	M	0.62088	1.915	0.51482	D	0.999923	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.23150	0.044;0.022;0.032	T	0.16041	-1.0416	10	0.62326	D	0.03	-0.6433	13.4413	0.61114	0.0:0.9202:0.0:0.0798	.	643;326;604	B9EG97;F5GYV7;P17010	.;.;ZFX_HUMAN	S	375;604;326;604;604;643;554	ENSP00000438233:P375S;ENSP00000368486:P604S;ENSP00000368475:P604S;ENSP00000304985:P604S;ENSP00000441382:P643S;ENSP00000343384:P554S	ENSP00000304985:P604S	P	+	1	0	ZFX	24138806	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.010000	0.70753	2.197000	0.70478	0.600000	0.82982	CCA		0.433	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410	
DMD	1756	hgsc.bcm.edu	37	X	31227762	31227762	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:31227762T>C	ENST00000357033.4	-	65	9622	c.9416A>G	c.(9415-9417)aAg>aGg	p.K3139R	DMD_ENST00000378723.3_Missense_Mutation_p.K71R|DMD_ENST00000378702.4_Missense_Mutation_p.K71R|DMD_ENST00000378677.2_Missense_Mutation_p.K3135R|DMD_ENST00000378680.2_Missense_Mutation_p.K71R|DMD_ENST00000541735.1_Missense_Mutation_p.K679R|DMD_ENST00000361471.4_Missense_Mutation_p.K71R|DMD_ENST00000474231.1_Missense_Mutation_p.K679R|DMD_ENST00000359836.1_Missense_Mutation_p.K679R|DMD_ENST00000343523.2_Missense_Mutation_p.K679R|DMD_ENST00000378707.3_Missense_Mutation_p.K679R	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	3139	Interaction with SYNM. {ECO:0000250}.				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.K3134R(1)|p.K679R(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)				GTCATTTTGCTTGAGGTTGTG	0.428																																					p.K71R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A212G	X						.						112.0	94.0	100.0					X																	31227762		2202	4300	6502	31137683	SO:0001583	missense	1756	exon4			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.9416A>G	X.37:g.31227762T>C	ENSP00000354923:p.Lys3139Arg		31137683	NM_004015	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.774261	0.90108	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680	T;T;T;T;T;T;T;T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	5.04	5.04	0.67666	EF-hand domain, type 1 (1);	0.000000	0.38778	U	0.001577	T	0.58424	0.2121	N	0.12637	0.245	0.80722	D	1	P;B;D;D;D;D;B;B;B;D;D;B;P;B;B;D	0.65815	0.814;0.012;0.987;0.987;0.987;0.987;0.0;0.003;0.004;0.995;0.994;0.164;0.9;0.0;0.0;0.987	P;B;D;D;D;D;B;B;B;D;D;B;P;B;B;D	0.74674	0.835;0.038;0.974;0.974;0.974;0.974;0.001;0.005;0.005;0.984;0.972;0.054;0.867;0.002;0.001;0.965	T	0.54549	-0.8277	10	0.06099	T	0.92	.	14.138	0.65300	0.0:0.0:0.0:1.0	.	71;3131;3139;3135;1798;1795;679;679;679;679;679;3016;71;71;71;71	B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1	.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.	R	3131;1798;1795;71;835;3135;3139;679;679;3139;3016;679;679;71;679;71;71	ENSP00000367997:K71R;ENSP00000350765:K835R;ENSP00000367948:K3135R;ENSP00000354923:K3139R;ENSP00000352894:K679R;ENSP00000340057:K679R;ENSP00000367979:K679R;ENSP00000444119:K679R;ENSP00000367974:K71R;ENSP00000417123:K679R;ENSP00000354464:K71R;ENSP00000367951:K71R	ENSP00000340057:K679R	K	-	2	0	DMD	31137683	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.825000	0.86693	1.983000	0.57843	0.486000	0.48141	AAG		0.428	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
DMD	1756	hgsc.bcm.edu	37	X	31525420	31525420	+	Missense_Mutation	SNP	G	G	A	rs398124069		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:31525420G>A	ENST00000357033.4	-	56	8574	c.8368C>T	c.(8368-8370)Cgg>Tgg	p.R2790W	DMD_ENST00000541735.1_Missense_Mutation_p.R330W|DMD_ENST00000343523.2_Missense_Mutation_p.R330W|DMD_ENST00000378707.3_Missense_Mutation_p.R330W|DMD_ENST00000474231.1_Missense_Mutation_p.R330W|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.R2786W|DMD_ENST00000359836.1_Missense_Mutation_p.R330W	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	2790					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.R330W(1)|p.R2785W(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)				GACTTTTTCCGAAGTTCACTC	0.393																																					p.R330W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C988T	X						.						168.0	140.0	150.0					X																	31525420		2202	4300	6502	31435341	SO:0001583	missense	1756	exon13			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.8368C>T	X.37:g.31525420G>A	ENSP00000354923:p.Arg2790Trp		31435341	NM_004021	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.28|16.28	3.078457|3.078457	0.55753|0.55753	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231|ENST00000465285	T;T;T;T;T;T;T;T|.	0.53423|.	0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62|.	5.75|5.75	3.8|3.8	0.43715|0.43715	.|.	0.231155|.	0.19987|.	U|.	0.101660|.	T|T	0.52058|0.52058	0.1711|0.1711	L|L	0.56769|0.56769	1.78|1.78	0.29549|0.29549	N|N	0.851512|0.851512	D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.999;0.995;0.988;0.995;0.995;0.998;0.999;0.999;1.0;1.0;0.992|.	D;P;P;P;P;D;D;D;D;D;P|.	0.73708|.	0.981;0.817;0.751;0.636;0.636;0.944;0.967;0.967;0.977;0.96;0.761|.	T|T	0.50591|0.50591	-0.8810|-0.8810	10|5	0.66056|.	D|.	0.02|.	.|.	11.6335|11.6335	0.51189|0.51189	0.0:0.0:0.3702:0.6298|0.0:0.0:0.3702:0.6298	.|.	2782;2790;2786;1449;1446;330;330;330;330;330;2667|.	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3|.	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.|.	W|L	2782;1449;1446;486;2786;2790;330;330;2790;2667;330;330;330|518	ENSP00000350765:R486W;ENSP00000367948:R2786W;ENSP00000354923:R2790W;ENSP00000352894:R330W;ENSP00000340057:R330W;ENSP00000367979:R330W;ENSP00000444119:R330W;ENSP00000417123:R330W|.	ENSP00000340057:R330W|.	R|S	-|-	1|2	2|0	DMD|DMD	31435341|31435341	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.996000|0.996000	0.88848|0.88848	1.934000|1.934000	0.40163|0.40163	1.174000|1.174000	0.42811|0.42811	0.594000|0.594000	0.82650|0.82650	CGG|TCG		0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
MED14	9282	hgsc.bcm.edu	37	X	40514224	40514224	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:40514224G>A	ENST00000324817.1	-	29	4179	c.4061C>T	c.(4060-4062)aCg>aTg	p.T1354M		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1354					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.T1354M(1)		NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACAGCAGGCGTCCCAGGAGG	0.493																																					p.T1354M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4061T	X						.						79.0	68.0	71.0					X																	40514224		2203	4300	6503	40399168	SO:0001583	missense	9282	exon29			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.4061C>T	X.37:g.40514224G>A	ENSP00000323720:p.Thr1354Met		40399168	NM_004229	Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	G	8.046	0.765025	0.15914	.	.	ENSG00000180182	ENST00000324817;ENST00000416199;ENST00000433003	.	.	.	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.51500	0.1678	L	0.29908	0.895	0.80722	D	1	B;B	0.22851	0.076;0.076	B;B	0.15484	0.013;0.013	T	0.49234	-0.8961	9	0.40728	T	0.16	.	17.0398	0.86486	0.0:0.0:1.0:0.0	.	1354;1354	A8KAK5;O60244	.;MED14_HUMAN	M	1354;66;253	.	ENSP00000323720:T1354M	T	-	2	0	MED14	40399168	1.000000	0.71417	0.939000	0.37840	0.336000	0.28762	9.420000	0.97426	2.030000	0.59900	0.544000	0.68410	ACG		0.493	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229	
CASK	8573	hgsc.bcm.edu	37	X	41437687	41437687	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:41437687C>T	ENST00000378163.1	-	15	1883	c.1409G>A	c.(1408-1410)gGc>gAc	p.G470D	CASK_ENST00000472704.1_5'UTR|CASK_ENST00000378154.1_Missense_Mutation_p.G470D|CASK_ENST00000361962.4_Missense_Mutation_p.G470D|CASK_ENST00000442742.2_Missense_Mutation_p.G470D|CASK_ENST00000318588.9_Missense_Mutation_p.G470D|CASK_ENST00000378166.4_Missense_Mutation_p.G470D|CASK_ENST00000378158.1_Missense_Mutation_p.G470D|CASK_ENST00000421587.2_Missense_Mutation_p.G464D			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	470					calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)	p.G470D(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						TGGAGAATCGCCGTTTAAATA	0.468																																					p.G470D	NSCLC(42;104 1086 3090 27189 35040)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1409A	X						.						129.0	101.0	110.0					X																	41437687		2203	4300	6503	41322631	SO:0001583	missense	8573	exon15			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.1409G>A	X.37:g.41437687C>T	ENSP00000367405:p.Gly470Asp		41322631	NM_001126054	A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	ENST00000378163.1	37		.	.	.	.	.	.	.	.	.	.	C	32	5.158209	0.94686	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378179;ENST00000378158;ENST00000378166;ENST00000442742;ENST00000378154	T;T;T;T;T;T;T;T;T	0.68765	-0.29;-0.3;-0.3;-0.3;3.43;-0.3;-0.3;-0.29;-0.35	5.44	5.44	0.79542	PDZ/DHR/GLGF (1);	0.000000	0.52532	D	0.000073	T	0.80798	0.4692	M	0.63843	1.955	0.80722	D	1	D;D;D;D;P	0.89917	1.0;0.999;1.0;1.0;0.598	D;D;D;D;B	0.97110	1.0;0.994;0.998;0.971;0.26	T	0.81959	-0.0694	10	0.62326	D	0.03	.	18.5502	0.91062	0.0:1.0:0.0:0.0	.	464;470;470;470;85	O14936-3;O14936-4;O14936-2;O14936;Q5JS72	.;.;.;CSKP_HUMAN;.	D	464;470;470;470;85;470;470;470;470	ENSP00000400526:G464D;ENSP00000322727:G470D;ENSP00000354641:G470D;ENSP00000367405:G470D;ENSP00000367421:G85D;ENSP00000367400:G470D;ENSP00000367408:G470D;ENSP00000398007:G470D;ENSP00000367396:G470D	ENSP00000322727:G470D	G	-	2	0	CASK	41322631	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.429000	0.80309	2.410000	0.81850	0.600000	0.82982	GGC		0.468	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688	
USP11	8237	hgsc.bcm.edu	37	X	47098863	47098863	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:47098863C>T	ENST00000218348.3	+	3	529	c.529C>T	c.(529-531)Cca>Tca	p.P177S	USP11_ENST00000377107.2_Missense_Mutation_p.P134S	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	177	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.P177S(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GCATGGCCAGCCACCCATTGA	0.562																																					p.P177S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C529T	X						.						57.0	49.0	52.0					X																	47098863		2203	4300	6503	46983807	SO:0001583	missense	8237	exon3			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.529C>T	X.37:g.47098863C>T	ENSP00000218348:p.Pro177Ser		46983807	NM_004651	B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	c	23.4	4.410780	0.83340	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.23950	1.92;1.88	5.6	5.6	0.85130	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.282865	0.33792	N	0.004541	T	0.57888	0.2084	M	0.86953	2.85	0.54753	D	0.999987	D	0.89917	1.0	D	0.91635	0.999	T	0.63084	-0.6716	10	0.49607	T	0.09	-11.5499	17.2644	0.87081	0.0:1.0:0.0:0.0	.	177	P51784	UBP11_HUMAN	S	134;177	ENSP00000366311:P134S;ENSP00000218348:P177S	ENSP00000218348:P177S	P	+	1	0	USP11	46983807	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.330000	0.52068	2.343000	0.79666	0.597000	0.82753	CCA		0.562	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651	
SUV39H1	6839	hgsc.bcm.edu	37	X	48564736	48564736	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:48564736C>T	ENST00000376687.3	+	4	1099	c.909C>T	c.(907-909)taC>taT	p.Y303Y	SUV39H1_ENST00000482260.1_3'UTR|AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000453214.2_Missense_Mutation_p.T151M|SUV39H1_ENST00000337852.6_Silent_p.Y314Y	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	303	Mediates interaction with MECOM. {ECO:0000250}.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.Y303Y(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						ACCTGGACTACGTGGAGGACG	0.612																																					p.Y303Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C909T	X						.						81.0	70.0	74.0					X																	48564736		2203	4300	6503	48449680	SO:0001819	synonymous_variant	6839	exon4			AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"""Chromatin-modifying enzymes / K-methyltransferases"""	11479	protein-coding gene	gene with protein product		300254	"""suppressor of variegation 3-9 (Drosophila) homolog 1"""	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.909C>T	X.37:g.48564736C>T			48449680	NM_003173	B2R6E8|B4DST0|Q53G60|Q6FHK6	Silent	SNP	ENST00000376687.3	37	CCDS14304.1	.	.	.	.	.	.	.	.	.	.	C	9.361	1.068066	0.20067	.	.	ENSG00000101945	ENST00000453214	.	.	.	4.39	-1.02	0.10135	.	.	.	.	.	T	0.33644	0.0870	.	.	.	0.24431	N	0.994571	.	.	.	.	.	.	T	0.31613	-0.9937	4	.	.	.	.	9.3376	0.38060	0.0:0.3157:0.0:0.6843	.	.	.	.	M	151	.	.	T	+	2	0	SUV39H1	48449680	0.004000	0.15560	0.984000	0.44739	0.936000	0.57629	-1.181000	0.03085	-0.677000	0.05231	0.287000	0.19450	ACG		0.612	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058909.1	NM_003173	
CCDC22	28952	hgsc.bcm.edu	37	X	49103345	49103345	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:49103345G>A	ENST00000376227.3	+	7	1038	c.868G>A	c.(868-870)Ggc>Agc	p.G290S		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	290								p.G290S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						TGCTCCTAAGGGCTCCCGCTT	0.647																																					p.G290S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G868A	X						.						46.0	31.0	36.0					X																	49103345		2194	4293	6487	48990289	SO:0001583	missense	28952	exon7			BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"""chromosome X open reading frame 37"""	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.868G>A	X.37:g.49103345G>A	ENSP00000365401:p.Gly290Ser		48990289	NM_014008	A8K7G1	Missense_Mutation	SNP	ENST00000376227.3	37	CCDS14322.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892456	0.91889	.	.	ENSG00000101997	ENST00000376227;ENST00000538876	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.69753	0.3146	L	0.45581	1.43	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71669	-0.4523	9	0.56958	D	0.05	-16.457	14.9472	0.71042	0.0:0.0:1.0:0.0	.	290;290	B4DLA4;O60826	.;CCD22_HUMAN	S	290	.	ENSP00000365401:G290S	G	+	1	0	CCDC22	48990289	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	7.696000	0.84270	2.204000	0.70986	0.525000	0.51046	GGC		0.647	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060822.1	NM_014008	
CCDC22	28952	hgsc.bcm.edu	37	X	49105374	49105374	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:49105374G>A	ENST00000376227.3	+	13	1698	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	510								p.E510K(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						GCAGAAGGAAGAGATCACCAA	0.607																																					p.E510K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1528A	X						.						55.0	33.0	40.0					X																	49105374		2201	4300	6501	48992318	SO:0001583	missense	28952	exon13			BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"""chromosome X open reading frame 37"""	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.1528G>A	X.37:g.49105374G>A	ENSP00000365401:p.Glu510Lys		48992318	NM_014008	A8K7G1	Missense_Mutation	SNP	ENST00000376227.3	37	CCDS14322.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.992973	0.93167	.	.	ENSG00000101997	ENST00000376227;ENST00000538876	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.77232	0.4100	M	0.73962	2.25	0.80722	D	1	D	0.60575	0.988	P	0.60473	0.875	T	0.80006	-0.1563	9	0.66056	D	0.02	-25.6122	17.1252	0.86712	0.0:0.0:1.0:0.0	.	510	O60826	CCD22_HUMAN	K	510	.	ENSP00000365401:E510K	E	+	1	0	CCDC22	48992318	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	9.088000	0.94132	2.309000	0.77851	0.292000	0.19580	GAG		0.607	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060822.1	NM_014008	
PPP1R3F	89801	hgsc.bcm.edu	37	X	49142647	49142647	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:49142647C>A	ENST00000055335.6	+	4	1511	c.1495C>A	c.(1495-1497)Cta>Ata	p.L499I	PPP1R3F_ENST00000466508.1_Missense_Mutation_p.L153I|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.L153I|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.L170I|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.L153I	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	499					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)	p.L499I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CCTGAGCCGCCTACGGGCTGC	0.677																																					p.L499I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1495A	X						.						13.0	12.0	12.0					X																	49142647		2177	4261	6438	49029591	SO:0001583	missense	89801	exon4				CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1495C>A	X.37:g.49142647C>A	ENSP00000055335:p.Leu499Ile		49029591	NM_033215	A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	ENST00000055335.6	37	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.544910	0.45280	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.70282	-0.02;-0.02;-0.47;-0.02;-0.02	5.5	2.27	0.28462	.	0.000000	0.44097	D	0.000487	T	0.72228	0.3434	L	0.32530	0.975	0.25983	N	0.982346	D;D;D	0.76494	0.999;0.999;0.98	D;D;P	0.80764	0.994;0.994;0.629	T	0.61959	-0.6955	10	0.87932	D	0	-1.779	7.3231	0.26539	0.0:0.6562:0.0:0.3438	.	170;184;499	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	I	153;170;499;153;153	ENSP00000420687:L153I;ENSP00000415548:L170I;ENSP00000055335:L499I;ENSP00000417535:L153I;ENSP00000365359:L153I	ENSP00000055335:L499I	L	+	1	2	PPP1R3F	49029591	0.994000	0.37717	1.000000	0.80357	0.779000	0.44077	0.695000	0.25527	0.499000	0.27970	0.429000	0.28392	CTA		0.677	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215	
CCNB3	85417	hgsc.bcm.edu	37	X	50051685	50051685	+	Silent	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:50051685C>A	ENST00000376042.1	+	6	814	c.516C>A	c.(514-516)atC>atA	p.I172I	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.I172I|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	172					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.I172I(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AAACCCTTATCAATAAGTCAT	0.438																																					p.I172I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C516A	X						.						91.0	82.0	85.0					X																	50051685		2203	4300	6503	50068425	SO:0001819	synonymous_variant	85417	exon5			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.516C>A	X.37:g.50051685C>A			50068425	NM_033031	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	CCDS14331.1																																																																																				0.438	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1		
BMP15	9210	hgsc.bcm.edu	37	X	50658841	50658841	+	Missense_Mutation	SNP	G	G	A	rs371418883		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:50658841G>A	ENST00000252677.3	+	2	413	c.413G>A	c.(412-414)cGc>cAc	p.R138H		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	138			R -> H (in POF4; leads to marked reduction of mature protein production; does not generate a complete recovery of wild-type activity in granulosa cell line transfected with defective mutant and with equal amount of wild-type protein). {ECO:0000269|PubMed:19263482}.		female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.R138H(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					GTGGTTTACCGCCATCATCTC	0.507																																					p.R138H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G413A	X						.	G	HIS/ARG	0,3835		0,0,1632,571	97.0	78.0	84.0		413	3.1	0.9	X		84	1,6726		0,1,2427,1871	no	missense	BMP15	NM_005448.2	29	0,1,4059,2442	AA,AG,GG,G		0.0149,0.0,0.0095	probably-damaging	138/393	50658841	1,10561	2203	4299	6502	50675581	SO:0001583	missense	9210	exon2			AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"""Bone morphogenetic proteins"""	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.413G>A	X.37:g.50658841G>A	ENSP00000252677:p.Arg138His		50675581	NM_005448	Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	ENST00000252677.3	37	CCDS14334.1	.	.	.	.	.	.	.	.	.	.	g	5.128	0.209221	0.09757	0.0	1.49E-4	ENSG00000130385	ENST00000252677	T	0.79352	-1.26	4.89	3.13	0.36017	.	0.218444	0.48286	N	0.000199	T	0.81138	0.4760	M	0.73598	2.24	0.24318	N	0.995054	D	0.71674	0.998	P	0.59221	0.854	T	0.69347	-0.5169	10	0.31617	T	0.26	.	4.613	0.12411	0.2026:0.1768:0.6206:0.0	.	138	O95972	BMP15_HUMAN	H	138	ENSP00000252677:R138H	ENSP00000252677:R138H	R	+	2	0	BMP15	50675581	0.000000	0.05858	0.860000	0.33809	0.022000	0.10575	0.587000	0.23909	0.492000	0.27815	-0.248000	0.11899	CGC		0.507	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448	
BMP15	9210	hgsc.bcm.edu	37	X	50659215	50659215	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:50659215C>A	ENST00000252677.3	+	2	787	c.787C>A	c.(787-789)Ctc>Atc	p.L263I		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	263			L -> LL (no or minor deleterious effect detected). {ECO:0000269|PubMed:16464940, ECO:0000269|PubMed:16508750, ECO:0000269|PubMed:16645022, ECO:0000269|PubMed:19263482}.		female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.L263I(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					GGAATCTCTTCTCCGGAGAAC	0.463																																					p.L263I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C787A	X						.						66.0	62.0	63.0					X																	50659215		2203	4299	6502	50675955	SO:0001583	missense	9210	exon2			AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"""Bone morphogenetic proteins"""	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.787C>A	X.37:g.50659215C>A	ENSP00000252677:p.Leu263Ile		50675955	NM_005448	Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	ENST00000252677.3	37	CCDS14334.1	.	.	.	.	.	.	.	.	.	.	c	0.074	-1.196724	0.01594	.	.	ENSG00000130385	ENST00000252677	T	0.80304	-1.36	5.52	-1.77	0.07982	.	0.238095	0.26927	N	0.021795	T	0.68476	0.3005	L	0.57536	1.79	0.09310	N	1	B	0.32781	0.384	B	0.28916	0.096	T	0.57213	-0.7850	10	0.40728	T	0.16	.	4.8442	0.13505	0.2361:0.4189:0.0:0.345	.	263	O95972	BMP15_HUMAN	I	263	ENSP00000252677:L263I	ENSP00000252677:L263I	L	+	1	0	BMP15	50675955	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.487000	0.06505	-0.411000	0.07530	0.556000	0.70494	CTC		0.463	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448	
MAGED1	9500	hgsc.bcm.edu	37	X	51640086	51640086	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:51640086G>A	ENST00000375722.1	+	4	1587	c.1335G>A	c.(1333-1335)tcG>tcA	p.S445S	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375695.2_Silent_p.S501S|MAGED1_ENST00000375772.3_Silent_p.S445S|MAGED1_ENST00000326587.7_Silent_p.S445S			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	445	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.S501S(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					TGCGCCCCTCGCCTAACCTGC	0.597										Multiple Myeloma(10;0.10)																											p.S445S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1335A	X						.						41.0	27.0	32.0					X																	51640086		2203	4300	6503	51656826	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.1335G>A	X.37:g.51640086G>A			51656826	NM_006986	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Silent	SNP	ENST00000375722.1	37	CCDS14337.1																																																																																				0.597	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332	
KDM5C	8242	hgsc.bcm.edu	37	X	53223796	53223796	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:53223796C>G	ENST00000375401.3	-	23	4095	c.3563G>C	c.(3562-3564)tGt>tCt	p.C1188S	KDM5C_ENST00000452825.3_Missense_Mutation_p.C1121S|KDM5C_ENST00000404049.3_Missense_Mutation_p.C1187S|KDM5C_ENST00000375379.3_Missense_Mutation_p.C1188S|KDM5C_ENST00000375383.3_Missense_Mutation_p.C1147S	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1188					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.C1188S(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CCCACACACACAGATAGAGGT	0.617			"""N, F, S"""		clear cell renal carcinoma																																p.C1188S			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3563C	X						.						178.0	128.0	145.0					X																	53223796		2203	4300	6503	53240521	SO:0001583	missense	8242	exon23			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.3563G>C	X.37:g.53223796C>G	ENSP00000364550:p.Cys1188Ser		53240521	NM_004187	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	c	17.81	3.479601	0.63849	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D;D	0.99252	-5.63;-5.63;-5.63;-5.63;-5.63	4.61	4.61	0.57282	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.99504	0.9823	M	0.92459	3.31	0.50632	D	0.999881	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.98223	1.0479	10	0.87932	D	0	-11.5631	14.082	0.64929	0.0:1.0:0.0:0.0	.	1121;1187;1188	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	S	1121;1188;1187;1188;1147	ENSP00000445176:C1121S;ENSP00000364550:C1188S;ENSP00000385394:C1187S;ENSP00000364528:C1188S;ENSP00000364532:C1147S	ENSP00000364528:C1188S	C	-	2	0	KDM5C	53240521	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	2.397000	0.44477	1.893000	0.54813	0.525000	0.51046	TGT		0.617	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187	
KLF8	11279	hgsc.bcm.edu	37	X	56296628	56296628	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:56296628G>A	ENST00000468660.1	+	5	1060	c.772G>A	c.(772-774)Gcc>Acc	p.A258T	KLF8_ENST00000374928.3_Intron	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	258					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.A258T(1)		kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						AGCAGCAATGGCCCAAATGCA	0.418																																					p.A258T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G772A	X						.						116.0	89.0	98.0					X																	56296628		2203	4300	6503	56313353	SO:0001583	missense	11279	exon5			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.772G>A	X.37:g.56296628G>A	ENSP00000417303:p.Ala258Thr		56313353	NM_007250	B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Missense_Mutation	SNP	ENST00000468660.1	37	CCDS14373.1	.	.	.	.	.	.	.	.	.	.	G	3.034	-0.199094	0.06219	.	.	ENSG00000102349	ENST00000468660	T	0.06218	3.33	3.97	1.72	0.24424	.	0.551295	0.17587	N	0.168917	T	0.02571	0.0078	N	0.04880	-0.145	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.48080	-0.9066	10	0.13470	T	0.59	.	5.691	0.17829	0.5769:0.0:0.4231:0.0	.	258	O95600	KLF8_HUMAN	T	258	ENSP00000417303:A258T	ENSP00000417303:A258T	A	+	1	0	KLF8	56313353	0.327000	0.24678	0.885000	0.34714	0.901000	0.52897	0.004000	0.13106	0.175000	0.19841	0.534000	0.68092	GCC		0.418	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056887.2	NM_007250	
FAAH2	158584	hgsc.bcm.edu	37	X	57515327	57515327	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:57515327A>G	ENST00000374900.4	+	11	1681	c.1561A>G	c.(1561-1563)Aaa>Gaa	p.K521E	FAAH2_ENST00000491179.1_3'UTR	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	521						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)	p.K521E(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GTACTTGGAGAAAACTTTTGG	0.498										HNSCC(52;0.14)																											p.K521E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1561G	X						.						79.0	73.0	75.0					X																	57515327		2203	4300	6503	57532052	SO:0001583	missense	158584	exon11			AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.1561A>G	X.37:g.57515327A>G	ENSP00000364035:p.Lys521Glu		57532052	NM_174912	Q86VT2|Q96N98	Missense_Mutation	SNP	ENST00000374900.4	37	CCDS14375.1	.	.	.	.	.	.	.	.	.	.	a	11.38	1.621706	0.28889	.	.	ENSG00000165591	ENST00000374900	T	0.62498	0.02	2.46	1.31	0.21738	Amidase signature domain (2);	0.124318	0.52532	U	0.000080	T	0.42539	0.1207	L	0.33753	1.03	0.34734	D	0.730029	B	0.17852	0.024	B	0.20184	0.028	T	0.35400	-0.9790	10	0.31617	T	0.26	.	3.2051	0.06663	0.7708:0.0:0.2292:0.0	.	521	Q6GMR7	FAAH2_HUMAN	E	521	ENSP00000364035:K521E	ENSP00000364035:K521E	K	+	1	0	FAAH2	57532052	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	3.045000	0.49838	0.962000	0.38057	0.437000	0.28790	AAA		0.498	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912	
AMER1	139285	hgsc.bcm.edu	37	X	63412218	63412218	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:63412218T>C	ENST00000330258.3	-	2	1221	c.949A>G	c.(949-951)Aca>Gca	p.T317A	AMER1_ENST00000374869.3_Missense_Mutation_p.T317A|AMER1_ENST00000403336.1_Missense_Mutation_p.T317A	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	317					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.T317A(2)									TTCAGGGATGTCACATCCCCA	0.537																																					p.T317A												.	.	69	Whole gene deletion(67)|Substitution - Missense(2)	kidney(65)|large_intestine(3)|ovary(1)	c.A949G	X						.						128.0	111.0	117.0					X																	63412218		2203	4300	6503	63328943	SO:0001583	missense	139285	exon2			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.949A>G	X.37:g.63412218T>C	ENSP00000329117:p.Thr317Ala		63328943	NM_152424	A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	T	12.03	1.816821	0.32145	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.25414	1.8;1.8;1.8	5.09	5.09	0.68999	.	0.113222	0.64402	D	0.000009	T	0.33089	0.0851	N	0.25485	0.75	0.35362	D	0.788265	D	0.61697	0.99	D	0.67103	0.949	T	0.45338	-0.9268	10	0.66056	D	0.02	-10.1216	8.5392	0.33382	0.1746:0.0:0.0:0.8254	.	317	Q5JTC6	F123B_HUMAN	A	317	ENSP00000364003:T317A;ENSP00000329117:T317A;ENSP00000384722:T317A	ENSP00000329117:T317A	T	-	1	0	FAM123B	63328943	0.940000	0.31905	1.000000	0.80357	0.954000	0.61252	1.049000	0.30392	2.003000	0.58678	0.430000	0.28490	ACA		0.537	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424	
OPHN1	4983	hgsc.bcm.edu	37	X	67273523	67273523	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:67273523A>G	ENST00000355520.5	-	22	2929	c.2288T>C	c.(2287-2289)aTt>aCt	p.I763T	OPHN1_ENST00000540071.1_Missense_Mutation_p.I655T	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	763					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.I763T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GCCAGCCACAATATCTGGCTT	0.542																																					p.I763T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2288C	X						.						111.0	80.0	91.0					X																	67273523		2203	4300	6503	67190248	SO:0001583	missense	4983	exon22			AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.2288T>C	X.37:g.67273523A>G	ENSP00000347710:p.Ile763Thr		67190248	NM_002547	B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP	ENST00000355520.5	37	CCDS14388.1	.	.	.	.	.	.	.	.	.	.	A	4.548	0.101738	0.08731	.	.	ENSG00000079482	ENST00000355520;ENST00000540071	T;T	0.05319	3.46;3.46	5.13	0.908	0.19326	.	1.005800	0.07995	N	0.987763	T	0.03263	0.0095	N	0.03608	-0.345	0.09310	N	1	B;B	0.23990	0.095;0.0	B;B	0.36186	0.219;0.0	T	0.46898	-0.9158	10	0.02654	T	1	.	7.3675	0.26781	0.589:0.0:0.411:0.0	.	655;763	F5H2E3;O60890	.;OPHN1_HUMAN	T	763;655	ENSP00000347710:I763T;ENSP00000438617:I655T	ENSP00000347710:I763T	I	-	2	0	OPHN1	67190248	0.001000	0.12720	0.001000	0.08648	0.963000	0.63663	0.725000	0.25970	0.167000	0.19631	0.486000	0.48141	ATT		0.542	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547	
GDPD2	54857	hgsc.bcm.edu	37	X	69652284	69652284	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:69652284C>T	ENST00000374382.3	+	13	1686	c.1435C>T	c.(1435-1437)Cgt>Tgt	p.R479C	GDPD2_ENST00000538649.1_Missense_Mutation_p.R400C|GDPD2_ENST00000453994.2_Missense_Mutation_p.R530C|GDPD2_ENST00000536730.1_Missense_Mutation_p.R400C|GDPD2_ENST00000472623.1_3'UTR	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	479	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)	p.R479C(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GCAGCAGATGCGTTACCCTAT	0.522																																					p.R400C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1198T	X						.						173.0	134.0	147.0					X																	69652284		2203	4300	6503	69569009	SO:0001583	missense	54857	exon12			AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.1435C>T	X.37:g.69652284C>T	ENSP00000363503:p.Arg479Cys		69569009	NM_001171193	B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	ENST00000374382.3	37	CCDS14402.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935077	0.34189	.	.	ENSG00000130055	ENST00000453994;ENST00000536730;ENST00000538649;ENST00000374382	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	4.77	2.89	0.33648	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	1.406040	0.04115	N	0.315241	T	0.39655	0.1086	L	0.36672	1.1	0.26718	N	0.970831	D;P	0.55172	0.97;0.947	B;B	0.40534	0.332;0.232	T	0.33599	-0.9862	9	.	.	.	4.4141	8.4157	0.32670	0.297:0.5602:0.1429:0.0	.	530;479	B4DVC9;Q9HCC8	.;GDPD2_HUMAN	C	530;400;400;479	ENSP00000414019:R530C;ENSP00000445982:R400C;ENSP00000444601:R400C;ENSP00000363503:R479C	.	R	+	1	0	GDPD2	69569009	0.000000	0.05858	0.784000	0.31847	0.978000	0.69477	-0.590000	0.05760	1.009000	0.39289	0.468000	0.43344	CGT		0.522	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1	NM_017711	
TEX11	56159	hgsc.bcm.edu	37	X	69773168	69773168	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:69773168A>G	ENST00000395889.2	-	28	2587	c.2432T>C	c.(2431-2433)aTa>aCa	p.I811T	TEX11_ENST00000344304.3_Missense_Mutation_p.I811T|TEX11_ENST00000374320.2_Missense_Mutation_p.I486T|TEX11_ENST00000374333.2_Missense_Mutation_p.I796T	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	811					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.I796T(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GTATTGTGATATATCAATTGG	0.363																																					p.I811T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2432C	X						.						101.0	84.0	90.0					X																	69773168		2203	4300	6503	69689893	SO:0001583	missense	56159	exon28			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.2432T>C	X.37:g.69773168A>G	ENSP00000379226:p.Ile811Thr		69689893	NM_001003811	A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	A	2.407	-0.336283	0.05278	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.43294	1.54;1.53;0.95;1.53	4.99	2.52	0.30459	.	0.486738	0.20382	N	0.093426	T	0.21186	0.0510	N	0.14661	0.345	0.09310	N	0.999993	B;B	0.11235	0.004;0.002	B;B	0.13407	0.009;0.004	T	0.15838	-1.0423	9	.	.	.	-9.8254	5.8703	0.18799	0.7788:0.0:0.2212:0.0	.	796;811	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	T	796;811;486;811	ENSP00000363453:I796T;ENSP00000379226:I811T;ENSP00000363440:I486T;ENSP00000340995:I811T	.	I	-	2	0	TEX11	69689893	0.762000	0.28451	0.965000	0.40720	0.022000	0.10575	1.219000	0.32479	0.729000	0.32403	0.486000	0.48141	ATA		0.363	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1		
NLGN3	54413	hgsc.bcm.edu	37	X	70367792	70367792	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:70367792C>T	ENST00000358741.3	+	2	496	c.193C>T	c.(193-195)Cct>Tct	p.P65S	NLGN3_ENST00000374051.3_Missense_Mutation_p.P65S|NLGN3_ENST00000536169.1_Missense_Mutation_p.P65S	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	65					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)	p.P65S(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GATCCTGGGGCCTGTGGACCA	0.647																																					p.P65S	Esophageal Squamous(103;760 1488 16849 22250 40351)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C193T	X						.						52.0	44.0	47.0					X																	70367792		2200	4300	6500	70284517	SO:0001583	missense	54413	exon2			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.193C>T	X.37:g.70367792C>T	ENSP00000351591:p.Pro65Ser		70284517	NM_001166660	B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.335954	0.60853	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	4.78	3.89	0.44902	.	0.056644	0.64402	D	0.000001	T	0.69495	0.3117	L	0.44542	1.39	0.58432	D	0.999999	D;P;D	0.64830	0.987;0.851;0.994	P;P;P	0.61874	0.829;0.869;0.895	T	0.71520	-0.4568	10	0.59425	D	0.04	.	14.0967	0.65027	0.0:0.8524:0.1476:0.0	.	65;65;65	D3DVV1;B7Z5Y1;Q9NZ94-2	.;.;.	S	65	ENSP00000445298:P65S;ENSP00000363163:P65S;ENSP00000379196:P65S;ENSP00000351591:P65S	ENSP00000351591:P65S	P	+	1	0	NLGN3	70284517	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.320000	0.79064	0.988000	0.38734	0.529000	0.55759	CCT		0.647	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977	
ZMYM3	9203	hgsc.bcm.edu	37	X	70461115	70461115	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:70461115G>A	ENST00000353904.2	-	24	4069	c.3882C>T	c.(3880-3882)cgC>cgT	p.R1294R	ZMYM3_ENST00000373988.1_Silent_p.R1296R|ZMYM3_ENST00000373984.3_Silent_p.R1204R|ZMYM3_ENST00000373998.1_Silent_p.R1282R|ZMYM3_ENST00000314425.5_Silent_p.R1294R|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1294					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R1294R(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TGACAGGGCAGCGGAGGGGAT	0.502																																					p.R1282R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3846T	X						.						123.0	99.0	107.0					X																	70461115		2203	4300	6503	70377840	SO:0001819	synonymous_variant	9203	exon24			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3882C>T	X.37:g.70461115G>A			70377840	NM_001171162	D3DVV3|O15089|Q96E26	Silent	SNP	ENST00000353904.2	37	CCDS14409.1																																																																																				0.502	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599	
ZMYM3	9203	hgsc.bcm.edu	37	X	70462270	70462270	+	Silent	SNP	C	C	T	rs375862549		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:70462270C>T	ENST00000353904.2	-	23	3739	c.3552G>A	c.(3550-3552)acG>acA	p.T1184T	ZMYM3_ENST00000373988.1_Silent_p.T1186T|ZMYM3_ENST00000373984.3_Intron|ZMYM3_ENST00000373998.1_Silent_p.T1172T|ZMYM3_ENST00000314425.5_Silent_p.T1184T|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1184					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.T1184T(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GAGAGAACACCGTATCTACAA	0.547																																					p.T1172T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3516A	X						.	C	,,	0,3835		0,0,0,1632,571	44.0	37.0	40.0		3516,3552,3552	-9.6	0.0	X		40	1,6727		0,0,1,2428,1871	no	coding-synonymous,coding-synonymous,coding-synonymous	ZMYM3	NM_001171162.1,NM_005096.3,NM_201599.2	,,	0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	,,	1172/1359,1184/1371,1184/1371	70462270	1,10562	2203	4300	6503	70378995	SO:0001819	synonymous_variant	9203	exon23			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3552G>A	X.37:g.70462270C>T			70378995	NM_001171162	D3DVV3|O15089|Q96E26	Silent	SNP	ENST00000353904.2	37	CCDS14409.1																																																																																				0.547	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599	
SLC16A2	6567	hgsc.bcm.edu	37	X	73751228	73751228	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:73751228C>T	ENST00000587091.1	+	6	1637	c.1460C>T	c.(1459-1461)cCc>cTc	p.P487L	SLC16A2_ENST00000276033.5_Missense_Mutation_p.P561L	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	487					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)	p.P561L(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	GGTGTGCCCCCCATCATCGGG	0.512																																					p.P561L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1682T	X						.						115.0	93.0	101.0					X																	73751228		2203	4300	6503	73667953	SO:0001583	missense	6567	exon6				CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.1460C>T	X.37:g.73751228C>T	ENSP00000465734:p.Pro487Leu		73667953	NM_006517	Q7Z797	Missense_Mutation	SNP	ENST00000587091.1	37	CCDS14426.2	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515078	0.64634	.	.	ENSG00000147100	ENST00000276033	T	0.53206	0.63	5.3	5.3	0.74995	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.48960	0.1529	L	0.57536	1.79	0.80722	D	1	B	0.32968	0.392	B	0.40134	0.32	T	0.43294	-0.9400	10	0.07030	T	0.85	.	18.0979	0.89497	0.0:1.0:0.0:0.0	.	487	P36021	MOT8_HUMAN	L	561	ENSP00000276033:P561L	ENSP00000276033:P561L	P	+	2	0	SLC16A2	73667953	1.000000	0.71417	0.948000	0.38648	0.932000	0.56968	7.487000	0.81328	2.210000	0.71456	0.529000	0.55759	CCC		0.512	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3		
HDX	139324	hgsc.bcm.edu	37	X	83599449	83599449	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:83599449C>T	ENST00000297977.5	-	6	1580	c.1469G>A	c.(1468-1470)cGa>cAa	p.R490Q	HDX_ENST00000373177.2_Missense_Mutation_p.R490Q|HDX_ENST00000506585.2_Missense_Mutation_p.R432Q	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	490						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R490Q(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						TTTCCTTCTTCGATTCCCAAT	0.398																																					p.R490Q	Pancreas(53;231 1169 36156 43751 51139)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1469A	X						.																																			83486105	SO:0001583	missense	139324	exon7			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.1469G>A	X.37:g.83599449C>T	ENSP00000297977:p.Arg490Gln		83486105	NM_001177479	A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896497	0.91962	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	D;D;D	0.97710	-4.5;-4.5;-4.5	5.47	5.47	0.80525	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97832	0.9288	L	0.36672	1.1	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.98604	1.0660	10	0.45353	T	0.12	-25.5408	18.3986	0.90507	0.0:1.0:0.0:0.0	.	490	Q7Z353	HDX_HUMAN	Q	490;432;490	ENSP00000297977:R490Q;ENSP00000362272:R432Q;ENSP00000423670:R490Q	ENSP00000297977:R490Q	R	-	2	0	HDX	83486105	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.638000	0.74309	2.285000	0.76669	0.600000	0.82982	CGA		0.398	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657	
PNMA5	114824	hgsc.bcm.edu	37	X	152158961	152158961	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chrX:152158961C>T	ENST00000439251.1	-	2	1620	c.1182G>A	c.(1180-1182)cgG>cgA	p.R394R	PNMA5_ENST00000361887.5_Silent_p.R394R|PNMA5_ENST00000535214.1_Silent_p.R394R|PNMA5_ENST00000452693.1_Silent_p.R394R	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	394					positive regulation of apoptotic process (GO:0043065)			p.R394R(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCTAACAGCCGCCTGCGTT	0.602																																					p.R394R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1182A	X						.						110.0	97.0	101.0					X																	152158961		2203	4300	6503	151909617	SO:0001819	synonymous_variant	114824	exon2			AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.1182G>A	X.37:g.152158961C>T			151909617	NM_001103150	B4DI72|B7Z9Y9|Q495L5|Q8NET3	Silent	SNP	ENST00000439251.1	37	CCDS14718.1																																																																																				0.602	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926	
CREG2	200407	hgsc.bcm.edu	37	2	102000055	102000055	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:102000055T>C	ENST00000324768.5	-	2	688	c.551A>G	c.(550-552)gAt>gGt	p.D184G	CREG2_ENST00000495455.1_5'UTR	NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	184						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	FMN binding (GO:0010181)|oxidoreductase activity (GO:0016491)	p.D184G(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						CTTCATCAGATCAGCCACCAC	0.562																																					p.D184G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A551G	2						.						77.0	74.0	75.0					2																	102000055		2203	4300	6503	101366487	SO:0001583	missense	200407	exon2			AB046109	CCDS2052.1	2q12.1	2007-08-01			ENSG00000175874	ENSG00000175874			14272	protein-coding gene	gene with protein product						12408961	Standard	NM_153836		Approved		uc002tba.2	Q8IUH2	OTTHUMG00000130692	ENST00000324768.5:c.551A>G	2.37:g.102000055T>C	ENSP00000315203:p.Asp184Gly		101366487	NM_153836	Q86X03|Q8N540|Q8N9E3	Missense_Mutation	SNP	ENST00000324768.5	37	CCDS2052.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.905877	0.92107	.	.	ENSG00000175874	ENST00000324768	T	0.64260	-0.09	5.93	5.93	0.95920	FMN-binding split barrel-related (1);FMN-binding split barrel (1);	0.052660	0.64402	D	0.000001	T	0.81322	0.4798	M	0.91717	3.235	0.80722	D	1	D	0.62365	0.991	P	0.58331	0.837	D	0.85719	0.1324	10	0.72032	D	0.01	.	16.3871	0.83514	0.0:0.0:0.0:1.0	.	184	Q8IUH2	CREG2_HUMAN	G	184	ENSP00000315203:D184G	ENSP00000315203:D184G	D	-	2	0	CREG2	101366487	1.000000	0.71417	0.413000	0.26509	0.994000	0.84299	5.427000	0.66483	2.265000	0.75225	0.533000	0.62120	GAT		0.562	CREG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253188.2	NM_153836	
IL18R1	8809	hgsc.bcm.edu	37	2	102992467	102992467	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:102992467A>T	ENST00000409599.1	+	6	925	c.569A>T	c.(568-570)cAt>cTt	p.H190L	IL18R1_ENST00000233957.1_Missense_Mutation_p.H190L			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	190	Ig-like C2-type 2.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)	p.H190L(1)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CATTTCCTTCATCATAATGGA	0.353																																					p.H190L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A569T	2						.						60.0	62.0	61.0					2																	102992467		2203	4300	6503	102358899	SO:0001583	missense	8809	exon4			U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.569A>T	2.37:g.102992467A>T	ENSP00000387211:p.His190Leu		102358899	NM_003855	B2R9Y5|Q52LC9	Missense_Mutation	SNP	ENST00000409599.1	37	CCDS2060.1	.	.	.	.	.	.	.	.	.	.	A	2.652	-0.281837	0.05642	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957	T;T;T	0.10668	2.85;2.85;2.85	4.9	-5.8	0.02347	.	0.971002	0.08493	N	0.937625	T	0.06962	0.0177	L	0.52573	1.65	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.09377	0.004;0.004	T	0.43829	-0.9367	10	0.22706	T	0.39	.	1.3944	0.02257	0.3049:0.2485:0.0812:0.3654	.	190;190	B7ZKV7;Q13478	.;IL18R_HUMAN	L	190	ENSP00000386663:H190L;ENSP00000387211:H190L;ENSP00000233957:H190L	ENSP00000233957:H190L	H	+	2	0	IL18R1	102358899	0.000000	0.05858	0.097000	0.21041	0.448000	0.32197	-2.443000	0.01013	-0.723000	0.04915	-0.313000	0.08912	CAT		0.353	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855	
C2orf50	130813	hgsc.bcm.edu	37	2	11280652	11280652	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:11280652T>C	ENST00000381585.3	+	2	556	c.274T>C	c.(274-276)Ttc>Ctc	p.F92L	C2orf50_ENST00000405022.3_Missense_Mutation_p.F92L			Q96LR7	CB050_HUMAN	chromosome 2 open reading frame 50	92								p.F92L(1)		breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		GAACTGGAGTTTCCTGAAAGA	0.373																																					p.F92L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T274C	2						.						116.0	107.0	110.0					2																	11280652		2203	4300	6503	11198103	SO:0001583	missense	130813	exon2			AK057872	CCDS1678.1	2p25.1	2012-08-02			ENSG00000150873	ENSG00000150873			26324	protein-coding gene	gene with protein product						12477932	Standard	NM_182500		Approved	FLJ25143	uc010yjj.1	Q96LR7	OTTHUMG00000119057	ENST00000381585.3:c.274T>C	2.37:g.11280652T>C	ENSP00000370997:p.Phe92Leu		11198103	NM_182500	A8K9W3|D6W503	Missense_Mutation	SNP	ENST00000381585.3	37	CCDS1678.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.070644	0.76301	.	.	ENSG00000150873	ENST00000381585;ENST00000405022	.	.	.	4.24	4.24	0.50183	.	0.000000	0.64402	D	0.000005	T	0.79197	0.4405	M	0.83012	2.62	0.49798	D	0.999826	D	0.76494	0.999	D	0.83275	0.996	T	0.82434	-0.0459	9	0.87932	D	0	-1.6621	12.3492	0.55139	0.0:0.0:0.0:1.0	.	92	Q96LR7	CB050_HUMAN	L	92	.	ENSP00000370997:F92L	F	+	1	0	C2orf50	11198103	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	4.552000	0.60747	1.563000	0.49615	0.523000	0.50628	TTC		0.373	C2orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239268.1	NM_182500	
MFSD9	84804	hgsc.bcm.edu	37	2	103335395	103335395	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:103335395G>A	ENST00000258436.5	-	6	952	c.909C>T	c.(907-909)taC>taT	p.Y303Y	MFSD9_ENST00000496253.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	303					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.Y303Y(1)		breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CAAAGTTACTGTAGTACAGCA	0.567																																					p.Y303Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C909T	2						.						63.0	54.0	57.0					2																	103335395		2203	4300	6503	102701827	SO:0001819	synonymous_variant	84804	exon6				CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.909C>T	2.37:g.103335395G>A			102701827	NM_032718	Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Silent	SNP	ENST00000258436.5	37	CCDS2063.1																																																																																				0.567	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718	
ERCC3	2071	hgsc.bcm.edu	37	2	128030524	128030524	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:128030524C>T	ENST00000285398.2	-	11	1838	c.1744G>A	c.(1744-1746)Gga>Aga	p.G582R	ERCC3_ENST00000493187.2_Missense_Mutation_p.G518R	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	582	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|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)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)	p.G582R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GACGTAGGTCCGTAGATATAG	0.428			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.G582R		yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1744A	2						.						129.0	116.0	120.0					2																	128030524		2203	4300	6503	127746994	SO:0001583	missense	2071	exon11	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.1744G>A	2.37:g.128030524C>T	ENSP00000285398:p.Gly582Arg		127746994	NM_000122	Q53QM0	Missense_Mutation	SNP	ENST00000285398.2	37	CCDS2144.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878612	0.91740	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	D;D	0.85088	-1.94;-1.94	5.61	5.61	0.85477	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95313	0.8479	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96379	0.9280	10	0.87932	D	0	-23.8355	19.6373	0.95740	0.0:1.0:0.0:0.0	.	582	P19447	ERCC3_HUMAN	R	582;518	ENSP00000285398:G582R;ENSP00000444796:G518R	ENSP00000285398:G582R	G	-	1	0	ERCC3	127746994	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	7.763000	0.85283	2.636000	0.89361	0.655000	0.94253	GGA		0.428	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122	
AMMECR1L	83607	hgsc.bcm.edu	37	2	128631638	128631638	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:128631638G>A	ENST00000272647.5	-	3	431	c.171C>T	c.(169-171)agC>agT	p.S57S	AMMECR1L_ENST00000393001.1_Silent_p.S57S	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	57								p.S57S(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		GTCCACTGCTGCTGTCCACAT	0.547																																					p.S57S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C171T	2						.						148.0	129.0	136.0					2																	128631638		2203	4300	6503	128348108	SO:0001819	synonymous_variant	83607	exon3				CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233			28658	protein-coding gene	gene with protein product			"""AMME chromosomal region gene 1-like"""				Standard	NM_001199140		Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.171C>T	2.37:g.128631638G>A			128348108	NM_001199140	B4E276	Silent	SNP	ENST00000272647.5	37	CCDS2152.1																																																																																				0.547	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	NM_031445	
UGGT1	56886	hgsc.bcm.edu	37	2	128941359	128941359	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:128941359A>G	ENST00000259253.6	+	38	4402	c.4355A>G	c.(4354-4356)gAt>gGt	p.D1452G	UGGT1_ENST00000375990.3_Missense_Mutation_p.D1428G	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1452	Glucosyltransferase. {ECO:0000250}.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.D1452G(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCAAATCTTGATCAAGTAAGT	0.428																																					p.D1452G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4355G	2						.						145.0	138.0	140.0					2																	128941359		2203	4300	6503	128657829	SO:0001583	missense	56886	exon38			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.4355A>G	2.37:g.128941359A>G	ENSP00000259253:p.Asp1452Gly		128657829	NM_020120	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.540221	0.85917	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.50277	0.75;0.75	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.75838	0.3904	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83202	-0.0078	9	.	.	.	.	14.5477	0.68044	1.0:0.0:0.0:0.0	.	1452	Q9NYU2	UGGG1_HUMAN	G	1428;1452	ENSP00000365158:D1428G;ENSP00000259253:D1452G	.	D	+	2	0	UGGT1	128657829	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.598000	0.90852	2.084000	0.62774	0.460000	0.39030	GAT		0.428	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120	
MCM6	4175	hgsc.bcm.edu	37	2	136630401	136630401	+	Silent	SNP	G	G	A	rs150079280	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:136630401G>A	ENST00000264156.2	-	2	180	c.120C>T	c.(118-120)agC>agT	p.S40S		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	40					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)	p.S40S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		TTTCTCCATCGCTGCTCTGAA	0.408																																					p.S40S	Ovarian(196;141 2104 8848 24991 25939)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C120T	2						.						117.0	110.0	113.0					2																	136630401		2203	4300	6503	136346871	SO:0001819	synonymous_variant	4175	exon2				CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.120C>T	2.37:g.136630401G>A			136346871	NM_005915	B2R6H2|Q13504|Q99859	Silent	SNP	ENST00000264156.2	37	CCDS2179.1																																																																																				0.408	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915	
CXCR4	7852	hgsc.bcm.edu	37	2	136873120	136873120	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:136873120G>A	ENST00000241393.3	-	2	482	c.378C>T	c.(376-378)atC>atT	p.I126I	CXCR4_ENST00000409817.1_Silent_p.I130I|CXCR4_ENST00000466288.1_5'UTR	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	126					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)	p.I130I(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	TGAAGGCCAGGATGAGGACAC	0.542																																					p.I126I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C378T	2						.						163.0	143.0	150.0					2																	136873120		2203	4300	6503	136589590	SO:0001819	synonymous_variant	7852	exon2			AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	2561	protein-coding gene	gene with protein product		162643	"""chemokine (C-X-C motif), receptor 4 (fusin)"""			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.378C>T	2.37:g.136873120G>A			136589590	NM_003467	B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Silent	SNP	ENST00000241393.3	37	CCDS46420.1	.	.	.	.	.	.	.	.	.	.	G	5.892	0.348700	0.11126	.	.	ENSG00000121966	ENST00000537957	.	.	.	5.79	3.68	0.42216	.	.	.	.	.	T	0.61974	0.2390	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64419	-0.6412	5	0.87932	D	0	.	6.5149	0.22242	0.3582:0.0:0.6418:0.0	.	.	.	.	F	30	.	ENSP00000440311:S30F	S	-	2	0	CXCR4	136589590	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.082000	0.50128	1.450000	0.47717	0.655000	0.94253	TCC		0.542	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1		
LRP1B	53353	hgsc.bcm.edu	37	2	141460045	141460045	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:141460045A>G	ENST00000389484.3	-	38	7072	c.6101T>C	c.(6100-6102)cTt>cCt	p.L2034P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2034					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.L2034P(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)		CATGCTTACAAGGACAACCTT	0.418										TSP Lung(27;0.18)																											p.L2034P	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T6101C	2						.						114.0	105.0	108.0					2																	141460045		2203	4300	6503	141176515	SO:0001583	missense	53353	exon38			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.6101T>C	2.37:g.141460045A>G	ENSP00000374135:p.Leu2034Pro		141176515	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.110057	0.77210	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.97598	-4.45	5.16	5.16	0.70880	Six-bladed beta-propeller, TolB-like (1);	0.292022	0.27331	U	0.019847	D	0.98823	0.9603	H	0.96398	3.815	0.80722	D	1	D	0.62365	0.991	D	0.63283	0.913	D	0.99709	1.1006	10	0.87932	D	0	.	15.2921	0.73872	1.0:0.0:0.0:0.0	.	2034	Q9NZR2	LRP1B_HUMAN	P	2034;1972	ENSP00000374135:L2034P	ENSP00000374135:L2034P	L	-	2	0	LRP1B	141176515	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	9.206000	0.95056	2.065000	0.61736	0.455000	0.32223	CTT		0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
GRB14	2888	hgsc.bcm.edu	37	2	165404185	165404185	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:165404185G>A	ENST00000263915.3	-	3	1004	c.466C>T	c.(466-468)Cct>Tct	p.P156S	GRB14_ENST00000543549.1_Missense_Mutation_p.P69S	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	156	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.P156S(1)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CCTATGTGAGGCAGGTGCTCA	0.418																																					p.P156S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C466T	2						.						94.0	82.0	86.0					2																	165404185		2203	4300	6503	165112431	SO:0001583	missense	2888	exon3				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.466C>T	2.37:g.165404185G>A	ENSP00000263915:p.Pro156Ser		165112431	NM_004490	B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	ENST00000263915.3	37	CCDS2222.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335537	0.24253	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413;ENST00000424693	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.1	4.21	0.49690	Ras-association (3);	0.236660	0.43747	N	0.000527	T	0.63200	0.2491	L	0.33792	1.035	0.37947	D	0.932528	B;B	0.27791	0.051;0.189	B;B	0.25614	0.048;0.062	T	0.62886	-0.6759	10	0.48119	T	0.1	-5.1064	4.8264	0.13417	0.1805:0.0:0.5994:0.22	.	69;156	B7Z7F9;Q14449	.;GRB14_HUMAN	S	156;69;111;98	ENSP00000263915:P156S;ENSP00000443699:P69S;ENSP00000416786:P111S;ENSP00000401702:P98S	ENSP00000263915:P156S	P	-	1	0	GRB14	165112431	0.992000	0.36948	1.000000	0.80357	0.974000	0.67602	0.157000	0.16402	1.250000	0.43966	0.655000	0.94253	CCT		0.418	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2		
LRP2	4036	hgsc.bcm.edu	37	2	170003297	170003297	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:170003297C>G	ENST00000263816.3	-	69	13048	c.12763G>C	c.(12763-12765)Gaa>Caa	p.E4255Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4255					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.E4255Q(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)"""	TTTATGGTTTCAATAACGTCC	0.353																																					p.E4255Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G12763C	2						.						103.0	102.0	103.0					2																	170003297		2203	4300	6503	169711543	SO:0001583	missense	4036	exon69				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.12763G>C	2.37:g.170003297C>G	ENSP00000263816:p.Glu4255Gln		169711543	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325647	0.81580	.	.	ENSG00000081479	ENST00000263816	D	0.91124	-2.79	5.6	5.6	0.85130	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.046292	0.85682	D	0.000000	D	0.95191	0.8441	M	0.72576	2.205	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.95197	0.8313	10	0.72032	D	0.01	.	19.6121	0.95610	0.0:1.0:0.0:0.0	.	4255	P98164	LRP2_HUMAN	Q	4255	ENSP00000263816:E4255Q	ENSP00000263816:E4255Q	E	-	1	0	LRP2	169711543	1.000000	0.71417	0.996000	0.52242	0.587000	0.36485	7.814000	0.86154	2.628000	0.89032	0.655000	0.94253	GAA		0.353	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
LRP2	4036	hgsc.bcm.edu	37	2	170096097	170096097	+	Missense_Mutation	SNP	G	G	A	rs145669628		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:170096097G>A	ENST00000263816.3	-	26	4519	c.4234C>T	c.(4234-4236)Cgg>Tgg	p.R1412W		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1412	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R1412W(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)"""	CACGAGCACCGGAAAGAACCT	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		19066	0.0		0.001	False		,,,				2504	0.0				p.R1412W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4234T	2						.	G	TRP/ARG	0,4406		0,0,2203	144.0	133.0	137.0		4234	4.6	1.0	2	dbSNP_134	137	3,8597	3.0+/-9.4	0,3,4297	yes	missense	LRP2	NM_004525.2	101	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	1412/4656	170096097	3,13003	2203	4300	6503	169804343	SO:0001583	missense	4036	exon26				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.4234C>T	2.37:g.170096097G>A	ENSP00000263816:p.Arg1412Trp		169804343	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.87	3.714473	0.68730	0.0	3.49E-4	ENSG00000081479	ENST00000263816	D	0.87729	-2.29	5.54	4.6	0.57074	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.91958	0.7453	M	0.74389	2.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90667	0.4595	10	0.38643	T	0.18	.	11.7363	0.51767	0.0:0.0:0.6534:0.3466	.	1412	P98164	LRP2_HUMAN	W	1412	ENSP00000263816:R1412W	ENSP00000263816:R1412W	R	-	1	2	LRP2	169804343	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	4.131000	0.57970	2.592000	0.87571	0.650000	0.86243	CGG		0.423	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
TTN	7273	hgsc.bcm.edu	37	2	179612565	179612565	+	Intron	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:179612565A>G	ENST00000591111.1	-	45	10585				TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Silent_p.S4854S|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S4854S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTTCTCCAGAGGCATGAA	0.378																																					p.S4854S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T14562C	2						.						49.0	49.0	49.0					2																	179612565		2203	4299	6502	179320810	SO:0001627	intron_variant	7273	exon46			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+5285T>C	2.37:g.179612565A>G			179320810	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179632874	179632874	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:179632874T>G	ENST00000591111.1	-	39	9396	c.9172A>C	c.(9172-9174)Ata>Cta	p.I3058L	TTN_ENST00000589042.1_Missense_Mutation_p.I3058L|TTN_ENST00000342992.6_Missense_Mutation_p.I3058L|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.I3058L|TTN_ENST00000359218.5_Missense_Mutation_p.I3012L|TTN_ENST00000342175.6_Missense_Mutation_p.I3012L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I3012L			Q8WZ42	TITIN_HUMAN	titin	13390	Ig-like 18.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I3012L(3)|p.I3058L(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTAAATTCTATATGACGAGCT	0.333																																					p.I3058L												.	.	5	Substitution - Missense(5)	large_intestine(5)	c.A9172C	2						.						75.0	75.0	75.0					2																	179632874		2203	4300	6503	179341119	SO:0001583	missense	7273	exon39			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.9172A>C	2.37:g.179632874T>G	ENSP00000465570:p.Ile3058Leu		179341119	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	16.61	3.172573	0.57584	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.04551	3.6;3.6;3.6;3.6;3.6	5.73	5.73	0.89815	Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.20536	0.0494	M	0.67397	2.05	0.35820	D	0.8245	D;D;D;D;D	0.67145	0.993;0.993;0.993;0.993;0.996	D;D;D;D;D	0.80764	0.987;0.987;0.987;0.987;0.994	T	0.04029	-1.0983	9	0.87932	D	0	.	16.3197	0.82945	0.0:0.0:0.0:1.0	.	3012;3012;3012;3058;3058	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	L	3058;3012;3012;3012;3012;3058	ENSP00000343764:I3058L;ENSP00000434586:I3012L;ENSP00000340554:I3012L;ENSP00000352154:I3012L;ENSP00000354117:I3058L	ENSP00000340554:I3012L	I	-	1	0	TTN	179341119	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.628000	0.83189	2.302000	0.77476	0.533000	0.62120	ATA		0.333	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
SSFA2	6744	hgsc.bcm.edu	37	2	182778604	182778604	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:182778604G>A	ENST00000431877.2	+	10	1698	c.1519G>A	c.(1519-1521)Gat>Aat	p.D507N	SSFA2_ENST00000409136.1_Missense_Mutation_p.D16N|SSFA2_ENST00000320370.7_Missense_Mutation_p.D507N|SSFA2_ENST00000409001.1_Missense_Mutation_p.D507N|SSFA2_ENST00000428267.2_Missense_Mutation_p.D354N	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	507						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D507N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TCAGCATTCCGATAGCAGTGG	0.333																																					p.D507N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1519A	2						.						117.0	108.0	111.0					2																	182778604		2202	4300	6502	182486849	SO:0001583	missense	6744	exon10			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.1519G>A	2.37:g.182778604G>A	ENSP00000388731:p.Asp507Asn		182486849	NM_006751	A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	G	30	5.052556	0.93793	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.51071	0.99;0.72;0.94;0.98;1.03	5.16	5.16	0.70880	.	0.105875	0.64402	D	0.000007	T	0.69984	0.3172	M	0.74881	2.28	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;0.998;0.998;0.998	T	0.70835	-0.4764	10	0.48119	T	0.1	-20.2307	19.0221	0.92919	0.0:0.0:1.0:0.0	.	354;507;507;507	E7END2;E9PHV5;P28290;P28290-3	.;.;SSFA2_HUMAN;.	N	507;507;507;354;16	ENSP00000388731:D507N;ENSP00000314669:D507N;ENSP00000387319:D507N;ENSP00000409867:D354N;ENSP00000386916:D16N	ENSP00000314669:D507N	D	+	1	0	SSFA2	182486849	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.154000	0.89641	2.554000	0.86153	0.557000	0.71058	GAT		0.333	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751	
FAM171B	165215	hgsc.bcm.edu	37	2	187611855	187611855	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:187611855C>T	ENST00000304698.5	+	4	805	c.602C>T	c.(601-603)gCc>gTc	p.A201V		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	201						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.A201V(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TTTTCAAAAGCCTTAATTAAA	0.363																																					p.A201V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C602T	2						.						154.0	154.0	154.0					2																	187611855		2202	4300	6502	187320100	SO:0001583	missense	165215	exon4			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.602C>T	2.37:g.187611855C>T	ENSP00000304108:p.Ala201Val		187320100	NM_177454	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490837	0.44249	.	.	ENSG00000144369	ENST00000304698;ENST00000272804	T	0.31769	1.48	5.27	4.38	0.52667	.	0.563593	0.20569	N	0.089773	T	0.19846	0.0477	N	0.25647	0.755	0.29989	N	0.817066	B;B	0.22146	0.065;0.065	B;B	0.18561	0.022;0.022	T	0.04537	-1.0944	10	0.45353	T	0.12	-10.2584	7.9453	0.29982	0.1604:0.7582:0.0:0.0814	.	201;202	Q6P995;A8K122	F171B_HUMAN;.	V	201	ENSP00000304108:A201V	ENSP00000272804:A201V	A	+	2	0	FAM171B	187320100	0.002000	0.14202	1.000000	0.80357	0.983000	0.72400	-0.307000	0.08167	2.633000	0.89246	0.460000	0.39030	GCC		0.363	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454	
MYO1B	4430	hgsc.bcm.edu	37	2	192228934	192228934	+	Nonsense_Mutation	SNP	C	C	T	rs200446624		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:192228934C>T	ENST00000392318.3	+	11	1211	c.964C>T	c.(964-966)Cga>Tga	p.R322*	MYO1B_ENST00000392316.1_Nonsense_Mutation_p.R322*|MYO1B_ENST00000339514.4_Nonsense_Mutation_p.R322*|MYO1B_ENST00000304164.4_Nonsense_Mutation_p.R322*	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	322	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R322*(1)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AGTTCTAGAACGAGCATTCAG	0.433													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17975	0.0		0.0	False		,,,				2504	0.0				p.R322X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C964T	2						.						120.0	113.0	115.0					2																	192228934		2203	4300	6503	191937179	SO:0001587	stop_gained	4430	exon11			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.964C>T	2.37:g.192228934C>T	ENSP00000376132:p.Arg322*		191937179	NM_012223	O43794|Q7Z6L5	Nonsense_Mutation	SNP	ENST00000392318.3	37	CCDS46477.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	29.6	5.023030	0.93462	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	.	.	.	5.62	3.67	0.42095	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	12.8684	0.57951	0.4076:0.5924:0.0:0.0	.	.	.	.	X	322	.	ENSP00000306382:R322X	R	+	1	2	MYO1B	191937179	1.000000	0.71417	0.814000	0.32528	0.982000	0.71751	3.267000	0.51577	1.451000	0.47736	0.650000	0.86243	CGA		0.433	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223	
HECW2	57520	hgsc.bcm.edu	37	2	197184154	197184154	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:197184154C>A	ENST00000260983.3	-	9	1642	c.1460G>T	c.(1459-1461)gGc>gTc	p.G487V	HECW2_ENST00000409111.1_Missense_Mutation_p.G131V	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	487					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G487V(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CATGATCAGGCCTCCCTCCTC	0.498																																					p.G487V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1460T	2						.						59.0	54.0	56.0					2																	197184154		2203	4300	6503	196892399	SO:0001583	missense	57520	exon9			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1460G>T	2.37:g.197184154C>A	ENSP00000260983:p.Gly487Val		196892399	NM_020760	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650149	0.47362	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.37584	1.19;1.33	5.5	5.5	0.81552	.	0.857310	0.10760	N	0.637226	T	0.32675	0.0837	N	0.08118	0	0.80722	D	1	P	0.52316	0.952	P	0.49140	0.601	T	0.34825	-0.9813	10	0.49607	T	0.09	.	17.7634	0.88470	0.0:1.0:0.0:0.0	.	487	Q9P2P5	HECW2_HUMAN	V	131;487	ENSP00000386775:G131V;ENSP00000260983:G487V	ENSP00000260983:G487V	G	-	2	0	HECW2	196892399	0.959000	0.32827	0.620000	0.29132	0.942000	0.58702	4.594000	0.61041	2.868000	0.98415	0.555000	0.69702	GGC		0.498	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760	
CASP10	843	hgsc.bcm.edu	37	2	202073908	202073908	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:202073908C>T	ENST00000272879.5	+	9	1222	c.1038C>T	c.(1036-1038)gcC>gcT	p.A346A	CASP10_ENST00000313728.7_Silent_p.A279A|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000346817.5_Silent_p.A303A|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000286186.6_Silent_p.A346A|CASP10_ENST00000448480.1_Silent_p.A303A	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	346					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)	p.A346A(3)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						CAGCCCATGCCGACGGGGACT	0.507																																					p.A346A												.	.	3	Substitution - coding silent(3)	endometrium(2)|large_intestine(1)	c.C1038T	2						.						174.0	162.0	166.0					2																	202073908		2203	4300	6503	201782153	SO:0001819	synonymous_variant	843	exon9			U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"""Caspases"""	1500	protein-coding gene	gene with protein product		601762	"""caspase 10, apoptosis-related cysteine protease"""			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.1038C>T	2.37:g.202073908C>T			201782153	NM_032974	Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Silent	SNP	ENST00000272879.5	37	CCDS2338.1																																																																																				0.507	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	NM_032977	
BMPR2	659	hgsc.bcm.edu	37	2	203395648	203395648	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:203395648G>C	ENST00000374580.4	+	8	1638	c.1099G>C	c.(1099-1101)Ggg>Cgg	p.G367R	BMPR2_ENST00000374574.2_Missense_Mutation_p.G367R	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	367	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.G367R(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GGTGCGCCCAGGGGAGGAAGA	0.403																																					p.G367R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1099C	2						.						74.0	75.0	75.0					2																	203395648		2203	4300	6503	203103893	SO:0001583	missense	659	exon8			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.1099G>C	2.37:g.203395648G>C	ENSP00000363708:p.Gly367Arg		203103893	NM_001204	Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946316	0.92593	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	T;T	0.65178	-0.14;-0.14	5.7	5.7	0.88788	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.046273	0.85682	D	0.000000	T	0.74966	0.3786	L	0.48218	1.51	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.98;0.991	T	0.76307	-0.3007	10	0.87932	D	0	.	18.0144	0.89235	0.0:0.0:1.0:0.0	.	367;367	Q13161;Q13873	.;BMPR2_HUMAN	R	367	ENSP00000363708:G367R;ENSP00000363702:G367R	ENSP00000363702:G367R	G	+	1	0	BMPR2	203103893	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.803000	0.99136	2.692000	0.91855	0.591000	0.81541	GGG		0.403	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204	
MDH1B	130752	hgsc.bcm.edu	37	2	207620066	207620066	+	Missense_Mutation	SNP	G	G	A	rs369119966		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:207620066G>A	ENST00000374412.3	-	5	852	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	MDH1B_ENST00000449792.1_Missense_Mutation_p.R95C|MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Missense_Mutation_p.R193C	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	193					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)	p.R193C(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GAGACACTGCGCAGGACGGGA	0.537																																					p.R193C	Pancreas(76;29 1355 28675 37177 51207)											.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C577T	2						.	G	CYS/ARG	0,4406		0,0,2203	88.0	80.0	82.0		577	3.9	0.0	2		82	2,8598	2.2+/-6.3	0,2,4298	no	missense	MDH1B	NM_001039845.1	180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	193/519	207620066	2,13004	2203	4300	6503	207328311	SO:0001583	missense	130752	exon5				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.577C>T	2.37:g.207620066G>A	ENSP00000363533:p.Arg193Cys		207328311	NM_001039845	A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558711	0.65538	0.0	2.33E-4	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.08008	3.14;3.14;3.14	5.68	3.9	0.45041	NAD(P)-binding domain (1);	0.354519	0.33792	N	0.004550	T	0.22166	0.0534	M	0.80616	2.505	0.24843	N	0.992453	D;D	0.71674	0.998;0.997	P;P	0.58520	0.84;0.696	T	0.07693	-1.0759	10	0.87932	D	0	-0.1591	7.5213	0.27629	0.1372:0.0:0.7289:0.1339	.	193;193	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	C	193;95;193	ENSP00000363533:R193C;ENSP00000416577:R95C;ENSP00000389916:R193C	ENSP00000363533:R193C	R	-	1	0	MDH1B	207328311	0.990000	0.36364	0.002000	0.10522	0.028000	0.11728	4.567000	0.60850	0.880000	0.35969	0.650000	0.86243	CGC		0.537	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845	
PIKFYVE	200576	hgsc.bcm.edu	37	2	209216128	209216128	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:209216128C>T	ENST00000264380.4	+	38	5822	c.5664C>T	c.(5662-5664)ctC>ctT	p.L1888L		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1888	Catalytic.|PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.L1888L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AGTCCTTCCTCGACTTTGCAC	0.338																																					p.L1888L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5664T	2						.						157.0	164.0	162.0					2																	209216128		2203	4300	6503	208924373	SO:0001819	synonymous_variant	200576	exon38			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.5664C>T	2.37:g.209216128C>T			208924373	NM_015040	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Silent	SNP	ENST00000264380.4	37	CCDS2382.1																																																																																				0.338	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040	
APOB	338	hgsc.bcm.edu	37	2	21242612	21242612	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:21242612C>T	ENST00000233242.1	-	19	3109	c.2982G>A	c.(2980-2982)ccG>ccA	p.P994P		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	994					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.P994P(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)					CCCCGGTCAGCGGATAGTAGG	0.537																																					p.P994P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2982A	2						.						85.0	75.0	79.0					2																	21242612		2203	4300	6503	21096117	SO:0001819	synonymous_variant	338	exon19			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.2982G>A	2.37:g.21242612C>T			21096117	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																				0.537	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
UNC80	285175	hgsc.bcm.edu	37	2	210650835	210650835	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:210650835C>G	ENST00000439458.1	+	5	726	c.646C>G	c.(646-648)Cag>Gag	p.Q216E	UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.6_Missense_Mutation_p.Q216E	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	216					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q216E(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						TGTTATATGGCAGCCCATGTG	0.498																																					p.Q216E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C646G	2						.						118.0	108.0	111.0					2																	210650835		2203	4300	6503	210359080	SO:0001583	missense	285175	exon5			AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.646C>G	2.37:g.210650835C>G	ENSP00000391088:p.Gln216Glu		210359080	NM_182587	B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	ENST00000439458.1	37	CCDS46504.1	.	.	.	.	.	.	.	.	.	.	C	34	5.374795	0.95923	.	.	ENSG00000144406	ENST00000439458;ENST00000281753;ENST00000272845	T;T	0.33865	1.39;1.4	5.95	5.95	0.96441	.	0.122356	0.56097	D	0.000028	T	0.59390	0.2190	L	0.58810	1.83	0.80722	D	1	P;P	0.52577	0.954;0.898	D;B	0.67900	0.954;0.328	T	0.57039	-0.7879	10	0.72032	D	0.01	.	20.3812	0.98933	0.0:1.0:0.0:0.0	.	216;216	Q8N2C7;Q8N2C7-3	UNC80_HUMAN;.	E	216	ENSP00000391088:Q216E;ENSP00000272845:Q216E	ENSP00000272845:Q216E	Q	+	1	0	UNC80	210359080	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.818000	0.86416	2.821000	0.97095	0.650000	0.86243	CAG		0.498	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587	
CPS1	1373	hgsc.bcm.edu	37	2	211476920	211476920	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:211476920C>T	ENST00000233072.5	+	20	2667	c.2471C>T	c.(2470-2472)aCt>aTt	p.T824I	CPS1_ENST00000430249.2_Missense_Mutation_p.T830I|CPS1_ENST00000451903.2_Missense_Mutation_p.T373I	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	824					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.T824I(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GAAGGTTTCACTCCCCGTCTC	0.438																																					p.T373I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1118T	2						.						134.0	135.0	134.0					2																	211476920		2203	4300	6503	211185165	SO:0001583	missense	1373	exon10			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2471C>T	2.37:g.211476920C>T	ENSP00000233072:p.Thr824Ile		211185165	NM_001122634	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244360	0.39697	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97279	-4.32;-4.32;-4.32	5.35	4.47	0.54385	Carbamoyl-phosphate synthetase, large subunit, oligomerisation (2);	0.156529	0.64402	D	0.000019	D	0.93184	0.7829	N	0.25647	0.755	0.41493	D	0.988238	B;B	0.20550	0.046;0.046	B;B	0.10450	0.005;0.005	D	0.90690	0.4612	10	0.72032	D	0.01	-1.1054	11.6297	0.51166	0.0:0.8058:0.1251:0.0691	.	834;824	Q59HF8;P31327	.;CPSM_HUMAN	I	830;832;824;373	ENSP00000402608:T830I;ENSP00000233072:T824I;ENSP00000406136:T373I	ENSP00000233072:T824I	T	+	2	0	CPS1	211185165	0.974000	0.33945	0.984000	0.44739	0.931000	0.56810	2.182000	0.42556	1.378000	0.46305	-0.266000	0.10368	ACT		0.438	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		
ABCA12	26154	hgsc.bcm.edu	37	2	215815670	215815670	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:215815670G>A	ENST00000272895.7	-	45	7004	c.6785C>T	c.(6784-6786)aCc>aTc	p.T2262I	ABCA12_ENST00000389661.4_Missense_Mutation_p.T1944I|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2262	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.T2262I(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AAGTTGGTAGGTCTTTGTGAG	0.408																																					p.T2262I	Ovarian(66;664 1488 5121 34295)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6785T	2						.						190.0	185.0	186.0					2																	215815670		2203	4300	6503	215523915	SO:0001583	missense	26154	exon45			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6785C>T	2.37:g.215815670G>A	ENSP00000272895:p.Thr2262Ile		215523915	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659352	0.29515	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.88975	-2.44;-2.45	5.61	5.61	0.85477	ABC transporter-like (1);	0.166513	0.42821	D	0.000646	T	0.76543	0.4002	N	0.13371	0.34	0.80722	D	1	B;B	0.11235	0.001;0.004	B;B	0.12837	0.004;0.008	T	0.69000	-0.5261	10	0.16420	T	0.52	.	7.3311	0.26584	0.2005:0.0:0.7995:0.0	.	2262;1944	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	I	2262;1944	ENSP00000272895:T2262I;ENSP00000374312:T1944I	ENSP00000272895:T2262I	T	-	2	0	ABCA12	215523915	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.702000	0.74628	2.639000	0.89480	0.555000	0.69702	ACC		0.408	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
ATIC	471	hgsc.bcm.edu	37	2	216198130	216198130	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:216198130A>T	ENST00000236959.9	+	9	1198	c.872A>T	c.(871-873)gAt>gTt	p.D291V	ATIC_ENST00000435675.1_Missense_Mutation_p.D290V|ATIC_ENST00000540518.1_Missense_Mutation_p.D232V	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	291					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)	p.D291V(1)	ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	ATGGTTTATGATCTCTATAAA	0.403			T	ALK	ALCL																																p.D291V			Dom	yes		2	2q35	471	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A872T	2						.						121.0	116.0	118.0					2																	216198130		2203	4300	6503	215906375	SO:0001583	missense	471	exon9				CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.872A>T	2.37:g.216198130A>T	ENSP00000236959:p.Asp291Val		215906375	NM_004044	A8K202|E9PBU3|Q13856|Q53S28	Missense_Mutation	SNP	ENST00000236959.9	37	CCDS2398.1	.	.	.	.	.	.	.	.	.	.	A	18.83	3.707523	0.68615	.	.	ENSG00000138363	ENST00000236959;ENST00000540518;ENST00000435675	T;T;T	0.79141	-1.24;-1.24;-1.24	6.07	6.07	0.98685	AICAR transformylase domain (1);Cytidine deaminase-like (1);	0.000000	0.85682	D	0.000000	D	0.91372	0.7278	H	0.95402	3.665	0.80722	D	1	P;P	0.51449	0.945;0.908	D;P	0.64595	0.927;0.884	D	0.93555	0.6890	10	0.87932	D	0	-34.5305	16.2891	0.82738	1.0:0.0:0.0:0.0	.	290;291	E9PBU3;P31939	.;PUR9_HUMAN	V	291;232;290	ENSP00000236959:D291V;ENSP00000440523:D232V;ENSP00000415935:D290V	ENSP00000236959:D291V	D	+	2	0	ATIC	215906375	1.000000	0.71417	0.156000	0.22583	0.158000	0.22134	9.184000	0.94893	2.330000	0.79161	0.528000	0.53228	GAT		0.403	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044	
CYP27A1	1593	hgsc.bcm.edu	37	2	219679747	219679747	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:219679747G>T	ENST00000258415.4	+	9	2017	c.1590G>T	c.(1588-1590)caG>caT	p.Q530H		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	530					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)	p.Q530H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	TGCAGAGACAGTGCTGAGCTG	0.602																																					p.Q530H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1590T	2						.						89.0	81.0	84.0					2																	219679747		2203	4300	6503	219387991	SO:0001583	missense	1593	exon9			BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"""Cytochrome P450s"""	2605	protein-coding gene	gene with protein product	"""cerebrotendinous xanthomatosis"""	606530	"""cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"""	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.1590G>T	2.37:g.219679747G>T	ENSP00000258415:p.Gln530His		219387991	NM_000784	A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	ENST00000258415.4	37	CCDS2423.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622822	0.46840	.	.	ENSG00000135929	ENST00000258415	T	0.76060	-0.99	4.39	1.48	0.22813	.	0.619805	0.17009	N	0.190592	T	0.59390	0.2190	N	0.08118	0	0.09310	N	0.999999	D	0.58970	0.984	P	0.53593	0.73	T	0.51458	-0.8703	10	0.72032	D	0.01	-0.8983	3.0068	0.06031	0.0975:0.3423:0.3839:0.1763	.	530	Q02318	CP27A_HUMAN	H	530	ENSP00000258415:Q530H	ENSP00000258415:Q530H	Q	+	3	2	CYP27A1	219387991	0.987000	0.35691	0.544000	0.28141	0.676000	0.39594	1.145000	0.31577	0.509000	0.28195	0.655000	0.94253	CAG		0.602	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4		
ABCB6	10058	hgsc.bcm.edu	37	2	220074987	220074987	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:220074987G>A	ENST00000265316.3	-	18	2701	c.2385C>T	c.(2383-2385)ctC>ctT	p.L795L	ABCB6_ENST00000439002.2_Silent_p.L749L	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	795	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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.L795L(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)		CCTTGATGACGAGGATCTGGT	0.557																																					p.L795L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2385T	2						.						102.0	97.0	99.0					2																	220074987		2203	4300	6503	219783231	SO:0001819	synonymous_variant	10058	exon18			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.2385C>T	2.37:g.220074987G>A			219783231	NM_005689	O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Silent	SNP	ENST00000265316.3	37	CCDS2436.1	.	.	.	.	.	.	.	.	.	.	G	7.328	0.618301	0.14129	.	.	ENSG00000115657	ENST00000295750	.	.	.	4.83	-9.66	0.00534	.	.	.	.	.	T	0.41604	0.1166	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51787	-0.8661	4	.	.	.	-13.7585	4.6718	0.12692	0.3365:0.2819:0.3116:0.07	.	.	.	.	L	643	.	.	S	-	2	0	ABCB6	219783231	0.000000	0.05858	0.146000	0.22360	0.977000	0.68977	-2.549000	0.00930	-3.383000	0.00174	-0.781000	0.03364	TCG		0.557	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689	
GMPPA	29926	hgsc.bcm.edu	37	2	220366752	220366752	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:220366752G>A	ENST00000358215.3	+	5	791	c.422G>A	c.(421-423)gGc>gAc	p.G141D	GMPPA_ENST00000341142.3_Missense_Mutation_p.G141D|GMPPA_ENST00000373917.3_Missense_Mutation_p.G141D|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Missense_Mutation_p.G141D|GMPPA_ENST00000313597.5_Missense_Mutation_p.G141D	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	141					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.G141D(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)		TTACTCCTTGGCACTACGGTG	0.607																																					p.G141D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G422A	2						.						124.0	114.0	118.0					2																	220366752		2203	4300	6503	220074996	SO:0001583	missense	29926	exon5			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.422G>A	2.37:g.220366752G>A	ENSP00000350949:p.Gly141Asp		220074996	NM_205847	A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	ENST00000358215.3	37	CCDS2441.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888533	0.91814	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000455657;ENST00000435316;ENST00000341142;ENST00000373924	T;T;T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72	4.7	4.7	0.59300	Nucleotidyl transferase (1);	0.000000	0.85682	D	0.000000	D	0.85375	0.5682	M	0.88377	2.95	0.80722	D	1	D;P	0.57899	0.981;0.924	P;P	0.62740	0.876;0.906	D	0.87970	0.2736	10	0.52906	T	0.07	-33.1749	17.2556	0.87055	0.0:0.0:1.0:0.0	.	141;141	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	D	141;141;141;141;141;106;141;71	ENSP00000315925:G141D;ENSP00000363027:G141D;ENSP00000350949:G141D;ENSP00000363016:G141D;ENSP00000392465:G141D;ENSP00000411060:G106D;ENSP00000340760:G141D	ENSP00000315925:G141D	G	+	2	0	GMPPA	220074996	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.655000	0.98512	2.165000	0.68154	0.561000	0.74099	GGC		0.607	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	NM_013335	
ACSL3	2181	hgsc.bcm.edu	37	2	223791885	223791885	+	Silent	SNP	T	T	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:223791885T>G	ENST00000357430.3	+	12	1974	c.1443T>G	c.(1441-1443)gcT>gcG	p.A481A	ACSL3_ENST00000392066.3_Silent_p.A481A	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	481					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.A481A(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	CTGAATCTGCTGGGGCTGGAA	0.493			T	ETV1	prostate																																p.A481A			Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1443G	2						.						90.0	83.0	85.0					2																	223791885		2203	4300	6503	223500129	SO:0001819	synonymous_variant	2181	exon12			D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.1443T>G	2.37:g.223791885T>G			223500129	NM_004457	Q60I92|Q8IUM9	Silent	SNP	ENST00000357430.3	37	CCDS2455.1																																																																																				0.493	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457	
WDFY1	57590	hgsc.bcm.edu	37	2	224766029	224766029	+	Missense_Mutation	SNP	G	G	A	rs371104825		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:224766029G>A	ENST00000233055.4	-	5	458	c.356C>T	c.(355-357)gCg>gTg	p.A119V		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	119						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)	p.A119V(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		GAAGATAATCGCAGACACCCG	0.547																																					p.A119V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C356T	2						.	G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	118.0	101.0	107.0		356	3.9	0.7	2		107	0,8600		0,0,4300	no	missense	WDFY1	NM_020830.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	119/411	224766029	1,13005	2203	4300	6503	224474273	SO:0001583	missense	57590	exon5			AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20451	protein-coding gene	gene with protein product			"""WD40 and FYVE domain containing 1"""			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.356C>T	2.37:g.224766029G>A	ENSP00000233055:p.Ala119Val		224474273	NM_020830	Q53S17|Q9H9D5|Q9P2B3	Missense_Mutation	SNP	ENST00000233055.4	37	CCDS33387.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184013	0.38609	2.27E-4	0.0	ENSG00000085449	ENST00000233055;ENST00000429915	T;T	0.32753	1.49;1.44	4.82	3.93	0.45458	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.177207	0.49305	D	0.000158	T	0.17959	0.0431	L	0.33485	1.01	0.47949	D	0.99955	P	0.45768	0.866	B	0.30251	0.113	T	0.03717	-1.1010	10	0.56958	D	0.05	-19.7074	10.4376	0.44445	0.0:0.1458:0.7028:0.1514	.	119	Q8IWB7	WDFY1_HUMAN	V	119;76	ENSP00000233055:A119V;ENSP00000395416:A76V	ENSP00000233055:A119V	A	-	2	0	WDFY1	224474273	0.868000	0.29978	0.716000	0.30569	0.631000	0.37964	1.320000	0.33666	1.143000	0.42306	-0.182000	0.12963	GCG		0.547	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330908.1	NM_020830	
COL6A3	1293	hgsc.bcm.edu	37	2	238275763	238275763	+	Silent	SNP	G	G	A	rs370475865		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:238275763G>A	ENST00000295550.4	-	11	5519	c.5067C>T	c.(5065-5067)gaC>gaT	p.D1689D	COL6A3_ENST00000346358.4_Silent_p.D1489D|COL6A3_ENST00000353578.4_Silent_p.D1483D|COL6A3_ENST00000347401.3_Silent_p.D1488D|COL6A3_ENST00000472056.1_Silent_p.D1082D|COL6A3_ENST00000409809.1_Silent_p.D1483D	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1689	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D1689D(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)		GGAAGAATTCGTCAGTGGGGT	0.488																																					p.D1082D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3246T	2						.						77.0	66.0	70.0					2																	238275763		2203	4300	6503	237940502	SO:0001819	synonymous_variant	1293	exon8			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5067C>T	2.37:g.238275763G>A			237940502	NM_057166	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																				0.488	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
COL6A3	1293	hgsc.bcm.edu	37	2	238296444	238296444	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:238296444C>T	ENST00000295550.4	-	4	1545	c.1093G>A	c.(1093-1095)Ggg>Agg	p.G365R	COL6A3_ENST00000346358.4_Missense_Mutation_p.G365R|COL6A3_ENST00000353578.4_Missense_Mutation_p.G159R|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000392004.3_Missense_Mutation_p.G159R|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000409809.1_Missense_Mutation_p.G159R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	365	Nonhelical region.|VWFA 2. {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.G365R(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)		GCTACCACCCCGTAGCGAATC	0.617																																					p.G159R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G475A	2						.						46.0	47.0	46.0					2																	238296444		2203	4300	6503	237961183	SO:0001583	missense	1293	exon3			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.1093G>A	2.37:g.238296444C>T	ENSP00000295550:p.Gly365Arg		237961183	NM_057167	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.667098	0.29604	.	.	ENSG00000163359	ENST00000295550;ENST00000353578;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000433762	T;T;T;T;T;D	0.97529	-1.09;-1.09;-1.09;-1.09;-1.09;-4.42	5.17	3.37	0.38596	von Willebrand factor, type A (3);	0.135403	0.32952	U	0.005443	D	0.96855	0.8973	L	0.56769	1.78	0.09310	N	1	D;D;D;D	0.69078	0.973;0.976;0.997;0.989	P;P;P;P	0.58721	0.755;0.686;0.844;0.755	D	0.91996	0.5607	10	0.40728	T	0.16	.	10.4782	0.44678	0.1328:0.7972:0.0:0.07	.	365;159;159;365	E9PCV6;E9PGQ9;P12111-2;P12111	.;.;.;CO6A3_HUMAN	R	365;159;159;365;159;365	ENSP00000295550:G365R;ENSP00000315873:G159R;ENSP00000386844:G159R;ENSP00000295546:G365R;ENSP00000375861:G159R;ENSP00000389539:G365R	ENSP00000295550:G365R	G	-	1	0	COL6A3	237961183	0.242000	0.23868	0.444000	0.26895	0.865000	0.49528	2.010000	0.40913	0.565000	0.29255	-0.128000	0.14901	GGG		0.617	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
MLPH	79083	hgsc.bcm.edu	37	2	238402076	238402076	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:238402076A>G	ENST00000264605.3	+	2	301	c.7A>G	c.(7-9)Aag>Gag	p.K3E	MLPH_ENST00000409373.1_Missense_Mutation_p.K3E|MLPH_ENST00000445024.2_Missense_Mutation_p.K3E|MLPH_ENST00000338530.4_Missense_Mutation_p.K3E|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000410032.1_Missense_Mutation_p.K3E	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	3					melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		AGAAATGGGGAAGAAACTGGA	0.478																																					p.K3E												.	.	0			c.A7G	2						.						153.0	152.0	152.0					2																	238402076		2203	4300	6503	238066815	SO:0001583	missense	79083	exon2			AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.7A>G	2.37:g.238402076A>G	ENSP00000264605:p.Lys3Glu		238066815	NM_001042467	B3KSS2|B4DKW7|G5E9G5|Q9HA71	Missense_Mutation	SNP	ENST00000264605.3	37	CCDS2518.1	.	.	.	.	.	.	.	.	.	.	A	18.05	3.536591	0.65085	.	.	ENSG00000115648	ENST00000422695;ENST00000429898;ENST00000410032;ENST00000264605;ENST00000445024;ENST00000338530;ENST00000409373	T;T;T;T;T;T;T	0.78126	-1.1;-1.15;1.59;1.82;1.8;1.71;1.62	5.05	3.9	0.45041	Zinc finger, RING/FYVE/PHD-type (1);	0.365525	0.25961	N	0.027188	T	0.74122	0.3675	L	0.46157	1.445	0.25333	N	0.989016	P;P;P;P;P	0.48230	0.851;0.775;0.907;0.899;0.86	B;B;P;B;P	0.49451	0.297;0.266;0.611;0.421;0.453	T	0.63994	-0.6511	10	0.36615	T	0.2	-6.9084	7.3692	0.26792	0.9001:0.0:0.0999:0.0	.	3;3;3;3;3	B4DKW7;B8ZZ97;Q9BV36-2;Q9BV36;G5E9G5	.;.;.;MELPH_HUMAN;.	E	3	ENSP00000409170:K3E;ENSP00000403909:K3E;ENSP00000386338:K3E;ENSP00000264605:K3E;ENSP00000414849:K3E;ENSP00000341845:K3E;ENSP00000386780:K3E	ENSP00000264605:K3E	K	+	1	0	MLPH	238066815	0.936000	0.31750	0.823000	0.32752	0.980000	0.70556	3.073000	0.50057	0.781000	0.33589	0.472000	0.43445	AAG		0.478	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101	
ITSN2	50618	hgsc.bcm.edu	37	2	24538058	24538058	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:24538058G>A	ENST00000355123.4	-	3	510	c.67C>T	c.(67-69)Cgt>Tgt	p.R23C	ITSN2_ENST00000406921.3_Missense_Mutation_p.R23C|ITSN2_ENST00000361999.3_Missense_Mutation_p.R23C|ITSN2_ENST00000407704.1_5'UTR	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	23	EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.R22C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTTAGTACGTTCTTCAGAG	0.343																																					p.R23C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C67T	2						.						117.0	113.0	114.0					2																	24538058		2203	4300	6503	24391562	SO:0001583	missense	50618	exon3			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.67C>T	2.37:g.24538058G>A	ENSP00000347244:p.Arg23Cys		24391562	NM_019595	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949837	0.73787	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011;ENST00000443927	T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56	5.0	5.0	0.66597	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.34750	U	0.003704	T	0.66752	0.2821	H	0.96048	3.76	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.996;0.996;0.999	T	0.76189	-0.3050	10	0.87932	D	0	.	12.6326	0.56665	0.0:0.0:0.7179:0.2821	.	23;23;23;23	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	C	23;23;23;22;23;23;9	ENSP00000354561:R23C;ENSP00000347244:R23C;ENSP00000370250:R23C;ENSP00000384499:R23C;ENSP00000391224:R23C;ENSP00000391715:R9C	ENSP00000347244:R23C	R	-	1	0	ITSN2	24391562	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.014000	0.64029	2.773000	0.95371	0.655000	0.94253	CGT		0.343	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277	
NCOA1	8648	hgsc.bcm.edu	37	2	24991197	24991197	+	Silent	SNP	G	G	A	rs145044877		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:24991197G>A	ENST00000406961.1	+	23	4915	c.4263G>A	c.(4261-4263)acG>acA	p.T1421T	NCOA1_ENST00000395856.3_Silent_p.T1420T|NCOA1_ENST00000288599.5_3'UTR|NCOA1_ENST00000407230.1_3'UTR|NCOA1_ENST00000348332.3_Silent_p.T1421T|NCOA1_ENST00000405141.1_3'UTR			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1421					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)	p.T1421T(1)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAAGCCCACGTCAGGACCAC	0.502			T	PAX3	alveolar rhadomyosarcoma								G|||	1	0.000199681	0.0008	0.0	5008	,	,		12816	0.0		0.0	False		,,,				2504	0.0				p.T1421T			Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4263A	2						.	G	,,	3,4403	6.2+/-15.9	0,3,2200	68.0	74.0	72.0		4263,,4260	-1.0	0.5	2	dbSNP_134	72	0,8600		0,0,4300	no	coding-synonymous,utr-3,coding-synonymous	NCOA1	NM_003743.4,NM_147223.2,NM_147233.2	,,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,,	1421/1442,,1420/1441	24991197	3,13003	2203	4300	6503	24844701	SO:0001819	synonymous_variant	8648	exon21			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.4263G>A	2.37:g.24991197G>A			24844701	NM_003743	O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	37	CCDS1712.1																																																																																				0.502	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223	
OTOF	9381	hgsc.bcm.edu	37	2	26706357	26706357	+	Silent	SNP	G	G	A	rs572162678		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:26706357G>A	ENST00000272371.2	-	13	1491	c.1365C>T	c.(1363-1365)taC>taT	p.Y455Y	OTOF_ENST00000403946.3_Silent_p.Y455Y	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	455	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.Y455Y(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGACTTGCACGTAGGGGTCCA	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		20256	0.0		0.001	False		,,,				2504	0.0				p.Y455Y	GBM(102;732 1451 20652 24062 31372)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1365T	2						.						89.0	78.0	81.0					2																	26706357		2203	4300	6503	26559861	SO:0001819	synonymous_variant	9381	exon13			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1365C>T	2.37:g.26706357G>A			26559861	NM_194248	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	CCDS1725.1																																																																																				0.552	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3		
SLC35F6	54978	hgsc.bcm.edu	37	2	27001128	27001128	+	Missense_Mutation	SNP	G	G	A	rs536311747		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:27001128G>A	ENST00000344420.5	+	6	927	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	CENPA_ENST00000475662.1_Intron|SLC35F6_ENST00000416475.2_Missense_Mutation_p.A206T	NM_017877.3	NP_060347.2	Q8N357	S35F6_HUMAN	solute carrier family 35, member F6	289					negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)		p.A289T(1)									GGAACTGAGCGCCACCACCCG	0.617																																					p.A289T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G865A	2						.						139.0	110.0	120.0					2																	27001128		2203	4300	6503	26854632	SO:0001583	missense	54978	exon6			AK075164	CCDS1728.1	2p24.1	2012-12-13	2012-12-07	2012-12-07	ENSG00000213699	ENSG00000213699			26055	protein-coding gene	gene with protein product	"""ANT2-binding protein"", ""transport and golgi organization 9 homolog (Drosophila)"""		"""chromosome 2 open reading frame 18"""	C2orf18		15911612, 19154410	Standard	NM_017877		Approved	FLJ20555, ANT2BP, TANGO9	uc002rhp.1	Q8N357	OTTHUMG00000128407	ENST00000344420.5:c.865G>A	2.37:g.27001128G>A	ENSP00000345528:p.Ala289Thr		26854632	NM_017877	D6W543|Q53GK2|Q8NBX6|Q9NWX0	Missense_Mutation	SNP	ENST00000344420.5	37	CCDS1728.1	.	.	.	.	.	.	.	.	.	.	G	35	5.514845	0.96402	.	.	ENSG00000213699	ENST00000344420;ENST00000416475	D;D	0.86432	-2.12;-2.12	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.94594	0.8258	M	0.89214	3.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.993;0.997	D	0.95126	0.8251	10	0.66056	D	0.02	.	17.867	0.88797	0.0:0.0:1.0:0.0	.	142;206;289	E7ET27;B4DLH2;Q8N357	.;.;CB018_HUMAN	T	289;206	ENSP00000345528:A289T;ENSP00000413413:A206T	ENSP00000345528:A289T	A	+	1	0	C2orf18	26854632	1.000000	0.71417	0.992000	0.48379	0.970000	0.65996	8.896000	0.92521	2.576000	0.86940	0.561000	0.74099	GCC		0.617	SLC35F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250187.2	NM_017877	
CRIM1	51232	hgsc.bcm.edu	37	2	36764620	36764620	+	Missense_Mutation	SNP	G	G	A	rs373582535		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:36764620G>A	ENST00000280527.2	+	14	2921	c.2554G>A	c.(2554-2556)Gtc>Atc	p.V852I	AC007401.2_ENST00000406220.1_Intron	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	852	VWFC 6. {ECO:0000255|PROSITE- ProRule:PRU00220}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V852I(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CTGCTCGACCGTCAGCTGCCC	0.597																																					p.V852I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2554A	2						.		ILE/VAL	0,4406		0,0,2203	81.0	67.0	72.0		2554	5.1	1.0	2		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	CRIM1	NM_016441.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	852/1037	36764620	1,13005	2203	4300	6503	36618124	SO:0001583	missense	51232	exon14			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.2554G>A	2.37:g.36764620G>A	ENSP00000280527:p.Val852Ile		36618124	NM_016441	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	g	24.2	4.505168	0.85282	0.0	1.16E-4	ENSG00000150938	ENST00000280527	T	0.70986	-0.53	5.12	5.12	0.69794	von Willebrand factor, type C (4);	0.141063	0.47455	D	0.000221	T	0.74741	0.3756	N	0.21448	0.665	0.51767	D	0.999939	D	0.76494	0.999	D	0.79784	0.993	T	0.73332	-0.4016	10	0.30078	T	0.28	-18.9224	17.6738	0.88225	0.0:0.0:1.0:0.0	.	852	Q9NZV1	CRIM1_HUMAN	I	852	ENSP00000280527:V852I	ENSP00000280527:V852I	V	+	1	0	CRIM1	36618124	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	8.551000	0.90678	2.395000	0.81488	0.627000	0.83407	GTC		0.597	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441	
PRKD3	23683	hgsc.bcm.edu	37	2	37513382	37513382	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:37513382G>A	ENST00000379066.1	-	6	1610	c.848C>T	c.(847-849)aCg>aTg	p.T283M	PRKD3_ENST00000234179.2_Missense_Mutation_p.T283M			O94806	KPCD3_HUMAN	protein kinase D3	283					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.T283M(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)				CTGACATATCGTGGGACGGGT	0.438																																					p.T283M	Melanoma(80;621 1355 8613 11814 51767)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C848T	2						.						153.0	120.0	131.0					2																	37513382		2203	4300	6503	37366886	SO:0001583	missense	23683	exon5			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.848C>T	2.37:g.37513382G>A	ENSP00000368356:p.Thr283Met		37366886	NM_005813	D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926478	0.92319	.	.	ENSG00000115825	ENST00000379066;ENST00000234179;ENST00000443187	D;D;D	0.93811	-3.29;-3.29;-2.9	5.71	5.71	0.89125	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.97291	0.9114	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97538	1.0084	10	0.87932	D	0	-13.845	19.8677	0.96824	0.0:0.0:1.0:0.0	.	283;283	O94806-2;O94806	.;KPCD3_HUMAN	M	283;283;179	ENSP00000368356:T283M;ENSP00000234179:T283M;ENSP00000401839:T179M	ENSP00000234179:T283M	T	-	2	0	PRKD3	37366886	1.000000	0.71417	0.980000	0.43619	0.945000	0.59286	9.869000	0.99810	2.709000	0.92574	0.655000	0.94253	ACG		0.438	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813	
SOS1	6654	hgsc.bcm.edu	37	2	39284006	39284006	+	Splice_Site	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:39284006T>C	ENST00000426016.1	-	5	433	c.347A>G	c.(346-348)gAg>gGg	p.E116G	SOS1_ENST00000428721.2_Splice_Site_p.E59G|SOS1_ENST00000402219.2_Splice_Site_p.E116G|SOS1_ENST00000395038.2_Splice_Site_p.E116G			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	116					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E116G(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ACCTAGGACCTCCTGCAAAAT	0.303									Noonan syndrome																												p.E116G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A347G	2						.						107.0	123.0	118.0					2																	39284006		2200	4297	6497	39137510	SO:0001630	splice_region_variant	6654	exon4	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.346-1A>G	2.37:g.39284006T>C			39137510	NM_005633	A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.806530	0.90623	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000395038;ENST00000263879;ENST00000428721;ENST00000451331	D;D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13;-2.13	5.79	5.79	0.91817	Histone-fold (2);Histone core (1);	0.000000	0.85682	D	0.000000	D	0.91459	0.7304	L	0.53617	1.68	0.80722	D	1	D	0.60160	0.987	D	0.66084	0.941	D	0.92286	0.5837	10	0.87932	D	0	.	16.1267	0.81400	0.0:0.0:0.0:1.0	.	116	Q07889	SOS1_HUMAN	G	116;116;116;116;59;59	ENSP00000387784:E116G;ENSP00000384675:E116G;ENSP00000378479:E116G;ENSP00000399992:E59G;ENSP00000393899:E59G	ENSP00000263879:E116G	E	-	2	0	SOS1	39137510	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.930000	0.87610	2.205000	0.71048	0.455000	0.32223	GAG		0.303	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633	Missense_Mutation
SLC3A1	6519	hgsc.bcm.edu	37	2	44507965	44507965	+	Missense_Mutation	SNP	C	C	T	rs142482973	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:44507965C>T	ENST00000260649.6	+	2	617	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	SLC3A1_ENST00000409741.1_Missense_Mutation_p.R181W|SLC3A1_ENST00000410056.3_Missense_Mutation_p.R181W|SLC3A1_ENST00000409387.1_Missense_Mutation_p.R181W|SLC3A1_ENST00000409229.3_Missense_Mutation_p.R181W	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	181			R -> Q (in CSNU). {ECO:0000269|PubMed:8054986}.		amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)	p.R181W(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	TGAAGATTTCCGGGAAGTTGA	0.363													C|||	2	0.000399361	0.0	0.0014	5008	,	,		13774	0.001		0.0	False		,,,				2504	0.0				p.R181W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C541T	2						.	C	TRP/ARG	0,4406		0,0,2203	98.0	97.0	97.0		541	3.8	1.0	2	dbSNP_134	97	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC3A1	NM_000341.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	181/686	44507965	1,13005	2203	4300	6503	44361469	SO:0001583	missense	6519	exon2				CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"""Solute carriers"""	11025	protein-coding gene	gene with protein product		104614	"""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"""			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.541C>T	2.37:g.44507965C>T	ENSP00000260649:p.Arg181Trp		44361469	NM_000341	A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	37	CCDS1819.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	11.40	1.627959	0.28978	0.0	1.16E-4	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289	D;D;D;D;D	0.99515	-6.06;-6.06;-4.94;-6.06;-6.06	4.74	3.83	0.44106	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.644798	0.14169	N	0.336840	D	0.99381	0.9782	M	0.93808	3.46	0.80722	D	1	D;D;D;D;D	0.76494	0.996;0.998;0.999;0.998;0.998	P;P;P;P;P	0.60473	0.823;0.873;0.875;0.823;0.823	D	0.99050	1.0827	10	0.38643	T	0.18	-1.1173	2.9778	0.05943	0.3303:0.4279:0.1504:0.0914	.	181;181;181;181;181	Q07837;B8ZZK1;Q4J6B5;Q4J6B6;Q4J6B8	SLC31_HUMAN;.;.;.;.	W	181;181;117;181;181;181;181	ENSP00000260649:R181W;ENSP00000387308:R181W;ENSP00000387337:R181W;ENSP00000386954:R181W;ENSP00000386620:R181W	ENSP00000260649:R181W	R	+	1	2	SLC3A1	44361469	0.920000	0.31207	0.990000	0.47175	0.086000	0.17979	1.484000	0.35508	1.044000	0.40200	0.655000	0.94253	CGG		0.363	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341	
STON1	11037	hgsc.bcm.edu	37	2	48809590	48809590	+	Silent	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:48809590A>G	ENST00000406226.1	+	3	2013	c.1818A>G	c.(1816-1818)ttA>ttG	p.L606L	STON1_ENST00000309835.3_Silent_p.L606L|STON1_ENST00000404752.1_Silent_p.L606L|STON1-GTF2A1L_ENST00000394754.1_Silent_p.L606L|STON1-GTF2A1L_ENST00000309827.2_Silent_p.L606L|STON1-GTF2A1L_ENST00000402114.2_Silent_p.L606L|STON1-GTF2A1L_ENST00000394751.3_Silent_p.L606L|STON1-GTF2A1L_ENST00000405008.1_Silent_p.L606L	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	606	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)		p.L606L(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGGGGAGTTTACAGGAACTTG	0.502																																					p.L606L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A1818G	2						.						68.0	67.0	67.0					2																	48809590		2203	4300	6503	48663094	SO:0001819	synonymous_variant	286749	exon1			AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1818A>G	2.37:g.48809590A>G			48663094	NM_001198594	A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Silent	SNP	ENST00000406226.1	37	CCDS1841.1																																																																																				0.502	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873	
GPR75-ASB3	100302652	hgsc.bcm.edu	37	2	53897667	53897667	+	Silent	SNP	T	T	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:53897667T>G	ENST00000263634.3	-	10	1664	c.1530A>C	c.(1528-1530)ccA>ccC	p.P510P	GPR75-ASB3_ENST00000394717.2_Silent_p.P437P|GPR75-ASB3_ENST00000352846.3_Silent_p.P548P|GPR75-ASB3_ENST00000482829.1_5'UTR|ASB3_ENST00000406625.2_Silent_p.P545P|GPR75-ASB3_ENST00000406687.1_Silent_p.P437P	NM_016115.4	NP_057199.1			GPR75-ASB3 readthrough									p.P510P(1)									CTGCCAGTTCTGGAACTTCAT	0.388																																					p.P510P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1530C	2						.						74.0	71.0	72.0					2																	53897667		2203	4300	6503	53751171	SO:0001819	synonymous_variant	51130	exon10				CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239			40043	other	readthrough							Standard	NM_001164165		Approved				OTTHUMG00000129279	ENST00000263634.3:c.1530A>C	2.37:g.53897667T>G			53751171	NM_016115		Silent	SNP	ENST00000263634.3	37	CCDS1846.1																																																																																				0.388	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251402.3		
CCDC88A	55704	hgsc.bcm.edu	37	2	55544441	55544441	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:55544441T>C	ENST00000436346.1	-	21	4488	c.3647A>G	c.(3646-3648)gAa>gGa	p.E1216G	AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000366287.4_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E1215G|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E1216G|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E1215G|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1216					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.E1216G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GAGCATTTTTTCCAAATCTTC	0.303																																					p.E1215G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3644G	2						.						76.0	78.0	77.0					2																	55544441		2201	4291	6492	55397945	SO:0001583	missense	55704	exon21			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.3647A>G	2.37:g.55544441T>C	ENSP00000410608:p.Glu1216Gly		55397945	NM_001135597	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37		.	.	.	.	.	.	.	.	.	.	T	17.72	3.457997	0.63401	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000412148;ENST00000413716;ENST00000426576	T;T;T;T;T;T	0.53640	2.17;2.41;2.39;0.61;2.18;1.18	5.62	5.62	0.85841	.	0.000000	0.49305	U	0.000160	T	0.57095	0.2030	M	0.62723	1.935	0.80722	D	1	P;P;B;P;P;P	0.52061	0.825;0.94;0.145;0.864;0.95;0.897	B;P;B;P;P;B	0.50440	0.367;0.535;0.037;0.489;0.641;0.38	T	0.61247	-0.7101	10	0.62326	D	0.03	-21.0182	16.1146	0.81295	0.0:0.0:0.0:1.0	.	1215;1216;1161;1216;1215;1215	B7ZM78;Q3V6T2-2;D6W5D1;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.;.;.;GRDN_HUMAN;.;.	G	1215;1216;1216;261;1215;391	ENSP00000338728:E1215G;ENSP00000263630:E1216G;ENSP00000410608:E1216G;ENSP00000390012:E261G;ENSP00000404431:E1215G;ENSP00000405080:E391G	ENSP00000263630:E1216G	E	-	2	0	CCDC88A	55397945	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.483000	0.66838	2.260000	0.74910	0.528000	0.53228	GAA		0.303	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571	
CFAP36	112942	hgsc.bcm.edu	37	2	55771148	55771148	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:55771148C>A	ENST00000349456.4	+	8	863	c.715C>A	c.(715-717)Ctc>Atc	p.L239I	CCDC104_ENST00000407816.3_Intron|CCDC104_ENST00000490934.1_3'UTR|CCDC104_ENST00000339012.3_Missense_Mutation_p.L264I			Q96G28	CFA36_HUMAN		239								p.L239I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AACTTCCTCCCTCCCACAAAA	0.388																																					p.L239I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C715A	2						.						92.0	97.0	95.0					2																	55771148		2203	4300	6503	55624652	SO:0001583	missense	112942	exon8																														ENST00000349456.4:c.715C>A	2.37:g.55771148C>A	ENSP00000295117:p.Leu239Ile		55624652	NM_080667	Q53SF0|Q53ST9|Q6UY34	Missense_Mutation	SNP	ENST00000349456.4	37	CCDS1854.2	.	.	.	.	.	.	.	.	.	.	C	6.893	0.534322	0.13188	.	.	ENSG00000163001	ENST00000339012;ENST00000349456	T;T	0.18960	2.18;2.2	5.21	0.0449	0.14227	.	0.896444	0.09641	N	0.774978	T	0.14227	0.0344	L	0.36672	1.1	0.09310	N	0.999999	B;B	0.22003	0.02;0.063	B;B	0.24006	0.01;0.05	T	0.38373	-0.9664	10	0.22109	T	0.4	.	4.8277	0.13425	0.0:0.4875:0.1483:0.3642	.	239;264	Q96G28;Q96G28-2	CC104_HUMAN;.	I	264;239	ENSP00000342699:L264I;ENSP00000295117:L239I	ENSP00000342699:L264I	L	+	1	0	CCDC104	55624652	0.000000	0.05858	0.004000	0.12327	0.883000	0.51084	0.025000	0.13577	-0.108000	0.12066	0.655000	0.94253	CTC		0.388	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2		
CNRIP1	25927	hgsc.bcm.edu	37	2	68546496	68546496	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:68546496C>T	ENST00000263655.3	-	1	642	c.37G>A	c.(37-39)Gcg>Acg	p.A13T	CNRIP1_ENST00000409559.3_Missense_Mutation_p.A13T|CNRIP1_ENST00000481714.1_Intron|CNRIP1_ENST00000409862.1_Missense_Mutation_p.A13T	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	13								p.A13T(2)		kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						ATGCGCAGCGCGATGGAGAGG	0.706																																					p.A13T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G37A	2						.						30.0	24.0	26.0					2																	68546496		2183	4273	6456	68400000	SO:0001583	missense	25927	exon1			AL110235	CCDS1886.1, CCDS46311.1	2p13	2008-02-05	2007-11-29	2007-11-29	ENSG00000119865	ENSG00000119865			24546	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 32"""	C2orf32		12477932	Standard	NM_015463		Approved	DKFZP566K1924, CRIP1, CRIP1a, CRIP1b	uc002sek.4	Q96F85	OTTHUMG00000129565	ENST00000263655.3:c.37G>A	2.37:g.68546496C>T	ENSP00000263655:p.Ala13Thr		68400000	NM_015463	B2R4D0|Q49AN4|Q9UFZ0	Missense_Mutation	SNP	ENST00000263655.3	37	CCDS1886.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300231	0.81136	.	.	ENSG00000119865	ENST00000409559;ENST00000263655;ENST00000409862	.	.	.	4.73	0.667	0.17907	.	0.131033	0.53938	D	0.000059	T	0.33411	0.0862	L	0.43152	1.355	0.37672	D	0.923172	P;P;P	0.50066	0.516;0.931;0.516	B;B;B	0.38880	0.086;0.284;0.058	T	0.25082	-1.0142	9	0.66056	D	0.02	-4.0644	8.1043	0.30877	0.5317:0.3936:0.0:0.0746	.	13;13;13	B8ZZB8;Q96F85;Q96F85-2	.;CNRP1_HUMAN;.	T	13	.	ENSP00000263655:A13T	A	-	1	0	CNRIP1	68400000	1.000000	0.71417	0.846000	0.33378	0.974000	0.67602	1.452000	0.35156	-0.064000	0.13043	-0.500000	0.04577	GCG		0.706	CNRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251758.1	NM_015463	
ANKRD53	79998	hgsc.bcm.edu	37	2	71211283	71211283	+	Intron	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:71211283G>A	ENST00000360589.3	+	6	937				AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000272421.6_Missense_Mutation_p.A312T|ANKRD53_ENST00000457410.1_Intron|ANKRD53_ENST00000441349.1_Missense_Mutation_p.A223T	NM_001115116.1	NP_001108588.1	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53									p.A312T(1)		endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						CTTCCCATTTGCCTTTTCCCC	0.488																																					p.A312T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G934A	2						.						174.0	152.0	159.0					2																	71211283		2203	4300	6503	71064791	SO:0001627	intron_variant	79998	exon6			BC035234	CCDS1913.1, CCDS46321.1	2p13.3	2013-01-10			ENSG00000144031	ENSG00000144031		"""Ankyrin repeat domain containing"""	25691	protein-coding gene	gene with protein product							Standard	NM_024933		Approved	FLJ12056, FLJ36160	uc002shl.4	Q8N9V6	OTTHUMG00000129712	ENST00000360589.3:c.904-458G>A	2.37:g.71211283G>A			71064791	NM_024933	Q8IYP8	Missense_Mutation	SNP	ENST00000360589.3	37	CCDS46321.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557046	0.27827	.	.	ENSG00000144031	ENST00000272421;ENST00000441349	T;T	0.74421	-0.08;-0.84	3.91	-0.0862	0.13682	.	.	.	.	.	T	0.58061	0.2096	.	.	.	0.09310	N	1	B;B	0.27416	0.111;0.178	B;B	0.33846	0.082;0.171	T	0.46076	-0.9217	8	0.21014	T	0.42	.	5.3405	0.15981	0.1004:0.0:0.3757:0.5239	.	223;312	C9JQK2;Q8N9V6-2	.;.	T	312;223	ENSP00000272421:A312T;ENSP00000388883:A223T	ENSP00000272421:A312T	A	+	1	0	ANKRD53	71064791	0.002000	0.14202	0.010000	0.14722	0.015000	0.08874	0.646000	0.24797	-0.024000	0.13941	-1.157000	0.01802	GCC		0.488	ANKRD53-004	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330275.2	NM_024933	
SLC4A5	57835	hgsc.bcm.edu	37	2	74474238	74474238	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:74474238A>G	ENST00000377634.4	-	19	2383	c.1984T>C	c.(1984-1986)Tac>Cac	p.Y662H	RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000394019.2_Missense_Mutation_p.Y662H|SLC4A5_ENST00000423644.1_Missense_Mutation_p.Y662H|SLC4A5_ENST00000346834.4_Missense_Mutation_p.Y662H|SLC4A5_ENST00000357822.5_Missense_Mutation_p.Y662H|SLC4A5_ENST00000358683.4_Missense_Mutation_p.Y598H|SLC4A5_ENST00000359484.4_Missense_Mutation_p.Y598H|SLC4A5_ENST00000377632.1_Missense_Mutation_p.Y662H|SLC4A5_ENST00000483195.1_5'UTR					solute carrier family 4 (sodium bicarbonate cotransporter), member 5									p.Y662H(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ATAGGGTAGTACTTGAAGGCA	0.498																																					p.Y662H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1984C	2						.						268.0	254.0	259.0					2																	74474238		2203	4300	6503	74327746	SO:0001583	missense	57835	exon14			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1984T>C	2.37:g.74474238A>G	ENSP00000366861:p.Tyr662His		74327746	NM_021196		Missense_Mutation	SNP	ENST00000377634.4	37	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	A	15.57	2.871866	0.51695	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	T;T;T;T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	5.17	5.17	0.71159	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76471	0.3992	N	0.11023	0.085	0.50171	D	0.999856	B;D;B;D;B	0.89917	0.148;1.0;0.077;1.0;0.023	B;D;B;D;B	0.97110	0.039;1.0;0.17;1.0;0.024	T	0.78954	-0.2000	10	0.44086	T	0.13	.	13.0178	0.58768	1.0:0.0:0.0:0.0	.	662;662;598;662;662	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	H	662;662;662;598;662;598;662;662;662;662	ENSP00000377587:Y662H;ENSP00000251768:Y662H;ENSP00000352461:Y598H;ENSP00000395804:Y662H;ENSP00000351513:Y598H;ENSP00000350475:Y662H;ENSP00000366859:Y662H;ENSP00000366861:Y662H;ENSP00000405678:Y662H	ENSP00000251768:Y662H	Y	-	1	0	SLC4A5	74327746	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.182000	0.58310	2.170000	0.68504	0.533000	0.62120	TAC		0.498	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3		
ITPRIPL1	150771	hgsc.bcm.edu	37	2	96993314	96993314	+	Silent	SNP	G	G	A	rs567070866		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:96993314G>A	ENST00000439118.2	+	3	1196	c.945G>A	c.(943-945)gtG>gtA	p.V315V	ITPRIPL1_ENST00000361124.4_Silent_p.V323V|ITPRIPL1_ENST00000542887.1_Silent_p.V307V|ITPRIPL1_ENST00000536814.1_Silent_p.V307V	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	315						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.V323V(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACCTAGACGTGTGCAAGACTG	0.577																																					p.V307V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G921A	2						.						59.0	58.0	59.0					2																	96993314		2203	4300	6503	96357041	SO:0001819	synonymous_variant	150771	exon2				CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.945G>A	2.37:g.96993314G>A			96357041	NM_001163523	F5H1L8|Q8NE61	Silent	SNP	ENST00000439118.2	37	CCDS46360.1	.	.	.	.	.	.	.	.	.	.	G	3.481	-0.105966	0.06924	.	.	ENSG00000198885	ENST00000420728	.	.	.	5.65	1.54	0.23209	.	.	.	.	.	T	0.31136	0.0787	.	.	.	0.20307	N	0.999912	.	.	.	.	.	.	T	0.23048	-1.0199	4	.	.	.	-10.2355	5.8481	0.18677	0.24:0.2646:0.4954:0.0	.	.	.	.	Y	347	.	.	C	+	2	0	ITPRIPL1	96357041	0.002000	0.14202	0.636000	0.29352	0.957000	0.61999	-0.313000	0.08103	0.454000	0.26884	0.655000	0.94253	TGT		0.577	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495	
ZAP70	7535	hgsc.bcm.edu	37	2	98354542	98354542	+	Missense_Mutation	SNP	G	G	A	rs572839729		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:98354542G>A	ENST00000264972.5	+	13	1923	c.1708G>A	c.(1708-1710)Gca>Aca	p.A570T	ZAP70_ENST00000442208.1_Missense_Mutation_p.A444T|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.A263T	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	570	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.A570T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CGAACTGTACGCACTCATGAG	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		18713	0.0		0.001	False		,,,				2504	0.0				p.A263T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G787A	2						.						81.0	78.0	79.0					2																	98354542		2203	4299	6502	97720974	SO:0001583	missense	7535	exon5			L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1708G>A	2.37:g.98354542G>A	ENSP00000264972:p.Ala570Thr		97720974	NM_207519	A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.797456	0.00617	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	T;T;T	0.62232	0.04;0.04;0.04	4.13	-3.52	0.04682	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	1.291700	0.05729	N	0.599351	T	0.33585	0.0868	N	0.11673	0.155	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.01281	0.0;0.0	T	0.09207	-1.0685	10	0.15499	T	0.54	.	2.1628	0.03829	0.3519:0.1268:0.3948:0.1265	.	444;570	P43403-3;P43403	.;ZAP70_HUMAN	T	570;444;263	ENSP00000264972:A570T;ENSP00000411141:A444T;ENSP00000400475:A263T	ENSP00000264972:A570T	A	+	1	0	ZAP70	97720974	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-2.505000	0.00963	-0.840000	0.04206	-1.261000	0.01458	GCA		0.612	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1		
MAP3K19	80122	hgsc.bcm.edu	37	2	135743950	135743953	+	Frame_Shift_Del	DEL	GTGA	GTGA	-	rs548269148		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	GTGA	GTGA	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:135743950_135743953delGTGA	ENST00000375845.3	-	7	2519_2522	c.2489_2492delTCAC	c.(2488-2493)ctcaccfs	p.LT830fs	MAP3K19_ENST00000392915.1_Frame_Shift_Del_p.LT847fs|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Frame_Shift_Del_p.LT717fs|MAP3K19_ENST00000392918.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	830							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L830fs*51(1)|p.L182fs*51(1)									GAGGCTTGTGGTGAGTATTTGATT	0.417																																					p.830_831del												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.2489_2492del	2						.																																			135460423	SO:0001589	frameshift_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.2489_2492delTCAC	2.37:g.135743950_135743953delGTGA	ENSP00000365005:p.Leu830fs		135460420	NM_025052	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Frame_Shift_Del	DEL	ENST00000375845.3	37	CCDS2176.2																																																																																				0.417	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052	
STK25	10494	hgsc.bcm.edu	37	2	242440935	242440935	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr2:242440935G>A	ENST00000316586.4	-	3	568	c.219C>T	c.(217-219)tgC>tgT	p.C73C	STK25_ENST00000403346.3_Silent_p.C73C|STK25_ENST00000405883.3_Intron|STK25_ENST00000401869.1_Silent_p.C73C|STK25_ENST00000543554.1_5'UTR|STK25_ENST00000535007.1_5'UTR|STK25_ENST00000405585.1_Intron|STK25_ENST00000478403.1_5'Flank	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	73	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.C73C(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		AGGGGCTGTCGCACTGACTGA	0.592																																					p.C73C	NSCLC(99;1100 1566 7679 28647 48345)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C219T	2						.						156.0	118.0	131.0					2																	242440935		2203	4300	6503	242089608	SO:0001819	synonymous_variant	10494	exon3			D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694			11404	protein-coding gene	gene with protein product		602255	"""serine/threonine kinase 25 (Ste20, yeast homolog)"""			8887545, 9160885, 15037601	Standard	NM_001271977		Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.219C>T	2.37:g.242440935G>A			242089608	NM_006374	A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Silent	SNP	ENST00000316586.4	37	CCDS2549.1																																																																																				0.592	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	NM_006374	
ERP44	23071	hgsc.bcm.edu	37	9	102814778	102814778	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:102814778C>A	ENST00000262455.6	-	4	406	c.207G>T	c.(205-207)gaG>gaT	p.E69D		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	69	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				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.E69D(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						CGGAAGCTTCCTCAAAAATTG	0.363																																					p.E69D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G207T	9						.						107.0	99.0	102.0					9																	102814778		2203	4300	6503	101854599	SO:0001583	missense	23071	exon4			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.207G>T	9.37:g.102814778C>A	ENSP00000262455:p.Glu69Asp		101854599	NM_015051	O60319|Q4VXC1|Q5VWZ7|Q6UW14|Q8WX67	Missense_Mutation	SNP	ENST00000262455.6	37	CCDS35082.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.394652	0.42512	.	.	ENSG00000023318	ENST00000262455	T	0.46063	0.88	5.62	2.78	0.32641	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.39200	0.1069	L	0.52823	1.66	0.58432	D	0.999998	B	0.28055	0.199	B	0.37888	0.26	T	0.16247	-1.0409	10	0.34782	T	0.22	-1.8503	6.7721	0.23598	0.0:0.5987:0.0:0.4013	.	69	Q9BS26	ERP44_HUMAN	D	69	ENSP00000262455:E69D	ENSP00000262455:E69D	E	-	3	2	ERP44	101854599	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.032000	0.30178	0.733000	0.32492	0.655000	0.94253	GAG		0.363	ERP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053402.1	XM_088476	
TMEM246	84302	hgsc.bcm.edu	37	9	104238282	104238282	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:104238282C>T	ENST00000374851.1	-	4	2240	c.1093G>A	c.(1093-1095)Gca>Aca	p.A365T	RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.A365T|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.A365T			Q9BRR3	TM246_HUMAN	transmembrane protein 246	365						integral component of membrane (GO:0016021)		p.A365T(1)									GAGTACAGTGCCATGTCCTTG	0.602																																					p.A365T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1093A	9						.						79.0	72.0	74.0					9																	104238282		2203	4300	6503	103278103	SO:0001583	missense	84302	exon2			BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 125"""	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.1093G>A	9.37:g.104238282C>T	ENSP00000363984:p.Ala365Thr		103278103	NM_032342	Q49AQ4	Missense_Mutation	SNP	ENST00000374851.1	37	CCDS6757.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497875	0.85069	.	.	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.7	4.8	0.61643	.	0.124356	0.53938	D	0.000042	T	0.74566	0.3733	M	0.70275	2.135	0.47659	D	0.999488	D	0.64830	0.994	P	0.60886	0.88	T	0.73620	-0.3925	9	0.29301	T	0.29	-6.3439	15.8223	0.78667	0.0:0.8638:0.1362:0.0	.	365	Q9BRR3	CI125_HUMAN	T	365	.	ENSP00000363980:A365T	A	-	1	0	C9orf125	103278103	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.837000	0.69381	1.410000	0.46936	0.563000	0.77884	GCA		0.602	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342	
ZNF462	58499	hgsc.bcm.edu	37	9	109746638	109746638	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:109746638A>G	ENST00000277225.5	+	10	7293	c.7004A>G	c.(7003-7005)tAt>tGt	p.Y2335C	ZNF462_ENST00000542028.1_Missense_Mutation_p.Y292C|ZNF462_ENST00000457913.1_Missense_Mutation_p.Y2395C|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000441147.2_Missense_Mutation_p.Y1241C			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2335					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y2335C(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CTCTGCTACTATGAGACCAAG	0.507																																					p.Y2335C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A7004G	9						.						112.0	102.0	105.0					9																	109746638		2203	4300	6503	108786459	SO:0001583	missense	58499	exon10			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.7004A>G	9.37:g.109746638A>G	ENSP00000277225:p.Tyr2335Cys		108786459	NM_021224	Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.996125	0.74703	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147;ENST00000542028	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	6.03	4.87	0.63330	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.064498	0.64402	D	0.000005	T	0.56790	0.2009	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.87578	0.998;0.733	T	0.61277	-0.7095	10	0.72032	D	0.01	.	12.4871	0.55879	0.8746:0.0:0.0:0.1254	.	2395;2335	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	C	2335;2395;1278;1241;292	ENSP00000277225:Y2335C;ENSP00000414570:Y2395C;ENSP00000363818:Y1278C;ENSP00000397306:Y1241C;ENSP00000439771:Y292C	ENSP00000277225:Y2335C	Y	+	2	0	ZNF462	108786459	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.765000	0.68834	1.057000	0.40506	0.533000	0.62120	TAT		0.507	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224	
SUSD1	64420	hgsc.bcm.edu	37	9	114904632	114904632	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:114904632C>T	ENST00000374270.3	-	5	846	c.674G>A	c.(673-675)gGc>gAc	p.G225D	SUSD1_ENST00000374264.2_Missense_Mutation_p.G225D|SUSD1_ENST00000374263.3_Missense_Mutation_p.G225D|SUSD1_ENST00000482851.1_5'UTR	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	225	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.G225D(1)	SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CTCCCATGTGCCCAGGCCTGT	0.423																																					p.G225D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G674A	9						.						125.0	129.0	128.0					9																	114904632		2203	4300	6503	113944453	SO:0001583	missense	64420	exon5			AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.674G>A	9.37:g.114904632C>T	ENSP00000363388:p.Gly225Asp		113944453	NM_022486	A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.170854|4.170854	0.78452|0.78452	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000415074|ENST00000374270;ENST00000374263;ENST00000374264	.|T;T;T	.|0.72615	.|-0.67;-0.67;-0.67	5.76|5.76	5.76|5.76	0.90799|0.90799	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.000000	.|0.44688	.|D	.|0.000421	D|D	0.84705|0.84705	0.5531|0.5531	M|M	0.89163|0.89163	3.01|3.01	0.50813|0.50813	D|D	0.999891|0.999891	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.80764	.|0.99;0.964;0.994	D|D	0.83547|0.83547	0.0099|0.0099	5|10	.|0.30854	.|T	.|0.27	-20.5978|-20.5978	12.4461|12.4461	0.55651|0.55651	0.0:0.9222:0.0:0.0778|0.0:0.9222:0.0:0.0778	.|.	.|225;225;225	.|F8WAQ1;Q6UWL2-2;Q6UWL2	.|.;.;SUSD1_HUMAN	T|D	39|225	.|ENSP00000363388:G225D;ENSP00000363381:G225D;ENSP00000363382:G225D	.|ENSP00000363381:G225D	A|G	-|-	1|2	0|0	SUSD1|SUSD1	113944453|113944453	0.712000|0.712000	0.27916|0.27916	0.996000|0.996000	0.52242|0.52242	0.739000|0.739000	0.42172|0.42172	3.262000|3.262000	0.51538|0.51538	2.879000|2.879000	0.98667|0.98667	0.650000|0.650000	0.86243|0.86243	GCA|GGC		0.423	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486	
KIAA1958	158405	hgsc.bcm.edu	37	9	115337398	115337398	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:115337398G>A	ENST00000337530.6	+	2	1334	c.1038G>A	c.(1036-1038)ctG>ctA	p.L346L	KIAA1958_ENST00000374244.3_Silent_p.L346L|KIAA1958_ENST00000536272.1_Silent_p.L346L	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	346								p.L346L(1)		endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						TGTCCCATCTGCCCAGCCAGG	0.572																																					p.L346L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1038A	9						.						143.0	137.0	139.0					9																	115337398		2203	4300	6503	114377219	SO:0001819	synonymous_variant	158405	exon2			AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1038G>A	9.37:g.115337398G>A			114377219	NM_133465	B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Silent	SNP	ENST00000337530.6	37	CCDS35108.1																																																																																				0.572	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465	
RGS3	5998	hgsc.bcm.edu	37	9	116359176	116359176	+	Silent	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:116359176C>A	ENST00000374140.2	+	26	3749	c.3540C>A	c.(3538-3540)ctC>ctA	p.L1180L	RGS3_ENST00000462143.1_Silent_p.L501L|RGS3_ENST00000462403.1_Silent_p.L293L|RGS3_ENST00000343817.5_Silent_p.L899L|RGS3_ENST00000394646.3_Silent_p.L573L|RGS3_ENST00000342620.5_Silent_p.L150L|RGS3_ENST00000374134.3_Silent_p.L501L|RGS3_ENST00000350696.5_Silent_p.L1180L	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1180	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.L1076L(1)|p.L293L(1)|p.L1180L(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CTCGCTTTCTCCGTTCTGACC	0.587																																					p.L1180L												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C3540A	9						.						132.0	110.0	118.0					9																	116359176		2203	4300	6503	115398997	SO:0001819	synonymous_variant	5998	exon26			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3540C>A	9.37:g.116359176C>A			115398997	NM_144488	A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Silent	SNP	ENST00000374140.2	37	CCDS43869.1																																																																																				0.587	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790	
TRIM32	22954	hgsc.bcm.edu	37	9	119460676	119460676	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:119460676C>T	ENST00000450136.1	+	2	816	c.655C>T	c.(655-657)Caa>Taa	p.Q219*	ASTN2_ENST00000361209.2_Intron|TRIM32_ENST00000373983.2_Nonsense_Mutation_p.Q219*|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	219					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q219*(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						GTCCAATAGTCAAGTGGTAGA	0.537																																					p.Q219X	Esophageal Squamous(92;212 1916 19711 26951)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C655T	9						.						69.0	64.0	66.0					9																	119460676		2203	4300	6503	118500497	SO:0001587	stop_gained	22954	exon2			U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.655C>T	9.37:g.119460676C>T	ENSP00000408292:p.Gln219*		118500497	NM_001099679	Q9NQP8	Nonsense_Mutation	SNP	ENST00000450136.1	37	CCDS6817.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273063	0.80580	.	.	ENSG00000119401	ENST00000450136;ENST00000373983	.	.	.	5.36	5.36	0.76844	.	0.075275	0.53938	D	0.000056	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.559	19.09	0.93223	0.0:1.0:0.0:0.0	.	.	.	.	X	219	.	.	Q	+	1	0	TRIM32	118500497	1.000000	0.71417	0.936000	0.37596	0.782000	0.44232	7.444000	0.80532	2.486000	0.83907	0.655000	0.94253	CAA		0.537	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210	
ASTN2	23245	hgsc.bcm.edu	37	9	119625995	119625995	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:119625995G>A	ENST00000313400.4	-	11	2007	c.1907C>T	c.(1906-1908)tCc>tTc	p.S636F	ASTN2_ENST00000373996.3_Missense_Mutation_p.S632F|ASTN2_ENST00000361209.2_Missense_Mutation_p.S585F|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	636					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.S585F(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AAAGTATGTGGACAGCATCGC	0.443																																					p.S585F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1754T	9						.						107.0	85.0	93.0					9																	119625995		2203	4300	6503	118665816	SO:0001583	missense	23245	exon10			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1907C>T	9.37:g.119625995G>A	ENSP00000314038:p.Ser636Phe		118665816	NM_014010	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37		.	.	.	.	.	.	.	.	.	.	G	19.41	3.822045	0.71028	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.15834	2.55;2.56;2.39;2.6	5.52	5.52	0.82312	.	0.066292	0.64402	D	0.000008	T	0.31827	0.0809	L	0.29908	0.895	0.80722	D	1	D;D;D	0.76494	0.993;0.989;0.999	P;P;D	0.76575	0.884;0.768;0.988	T	0.01643	-1.1305	9	.	.	.	-23.0881	19.4364	0.94798	0.0:0.0:1.0:0.0	.	585;636;632	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	F	636;632;359;585	ENSP00000314038:S636F;ENSP00000363108:S632F;ENSP00000363098:S359F;ENSP00000354504:S585F	.	S	-	2	0	ASTN2	118665816	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	9.429000	0.97481	2.588000	0.87417	0.655000	0.94253	TCC		0.443	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010	
BRINP1	1620	hgsc.bcm.edu	37	9	121929632	121929632	+	Silent	SNP	T	T	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:121929632T>A	ENST00000265922.3	-	8	2477	c.2016A>T	c.(2014-2016)gcA>gcT	p.A672A	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	672					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.A672A(1)									CCTGCTGCACTGCACTGCGCA	0.542																																					p.A672A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2016T	9						.						167.0	155.0	159.0					9																	121929632		2203	4300	6503	120969453	SO:0001819	synonymous_variant	1620	exon8			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.2016A>T	9.37:g.121929632T>A			120969453	NM_014618	Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	ENST00000265922.3	37	CCDS6822.1																																																																																				0.542	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618	
PHF19	26147	hgsc.bcm.edu	37	9	123631561	123631561	+	Silent	SNP	G	G	A	rs41273396	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:123631561G>A	ENST00000373896.3	-	6	765	c.513C>T	c.(511-513)gcC>gcT	p.A171A	PHF19_ENST00000487555.1_5'Flank|PHF19_ENST00000419155.1_5'Flank	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	171					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCATCTTCACGGCCTGCAGCG	0.682											OREG0019440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	61	0.0121805	0.0038	0.0187	5008	,	,		11525	0.0		0.0338	False		,,,				2504	0.0092				p.A171A												.	.	0			c.C513T	9						.	G		18,4388	23.3+/-48.9	0,18,2185	32.0	28.0	29.0		513	-10.3	0.8	9	dbSNP_127	29	273,8325	98.1+/-159.7	4,265,4030	no	coding-synonymous	PHF19	NM_015651.1		4,283,6215	AA,AG,GG		3.1752,0.4085,2.2378		171/581	123631561	291,12713	2203	4299	6502	122671382	SO:0001819	synonymous_variant	26147	exon6			BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24566	protein-coding gene	gene with protein product	"""polycomb-like 3"", ""tudor domain containing 19B"""	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.513C>T	9.37:g.123631561G>A		1528	122671382	NM_015651	Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Silent	SNP	ENST00000373896.3	37	CCDS35116.1																																																																																				0.682	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053838.3	XM_045308	
ZBTB26	57684	hgsc.bcm.edu	37	9	125682004	125682004	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:125682004C>T	ENST00000373656.3	-	2	283	c.210G>A	c.(208-210)gtG>gtA	p.V70V	ZBTB26_ENST00000373654.1_Silent_p.V70V	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	70	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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.V70V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						TGGAGATTTTCACCTCTCTGG	0.403																																					p.V70V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G210A	9						.						52.0	52.0	52.0					9																	125682004		2203	4298	6501	124721825	SO:0001819	synonymous_variant	57684	exon2			AB046792	CCDS6847.1	9q34.11	2013-01-08	2004-04-15	2004-04-16	ENSG00000171448	ENSG00000171448		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23383	protein-coding gene	gene with protein product			"""zinc finger protein 481"""	ZNF481			Standard	NM_020924		Approved		uc004bnk.3	Q9HCK0	OTTHUMG00000020627	ENST00000373656.3:c.210G>A	9.37:g.125682004C>T			124721825	NM_020924	B3KQ53|Q8WTR1	Silent	SNP	ENST00000373656.3	37	CCDS6847.1																																																																																				0.403	ZBTB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053960.1	NM_020924	
GAPVD1	26130	hgsc.bcm.edu	37	9	128064536	128064536	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:128064536C>T	ENST00000495955.1	+	5	750	c.460C>T	c.(460-462)Cga>Tga	p.R154*	GAPVD1_ENST00000312123.9_Nonsense_Mutation_p.R154*|GAPVD1_ENST00000394083.2_Nonsense_Mutation_p.R154*|RNU6-1020P_ENST00000363684.1_RNA|GAPVD1_ENST00000394084.1_Nonsense_Mutation_p.R154*|GAPVD1_ENST00000265956.4_Nonsense_Mutation_p.R154*|GAPVD1_ENST00000470056.1_Nonsense_Mutation_p.R154*|GAPVD1_ENST00000297933.6_Nonsense_Mutation_p.R154*|GAPVD1_ENST00000394104.2_Nonsense_Mutation_p.R154*|GAPVD1_ENST00000394105.2_Nonsense_Mutation_p.R154*			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	154	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.R154*(1)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TCAGGTTTTGCGATACTTGAT	0.378																																					p.R154X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C460T	9						.						111.0	112.0	112.0					9																	128064536		2203	4300	6503	127104357	SO:0001587	stop_gained	26130	exon3				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.460C>T	9.37:g.128064536C>T	ENSP00000419063:p.Arg154*		127104357	NM_015635	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Nonsense_Mutation	SNP	ENST00000495955.1	37		.	.	.	.	.	.	.	.	.	.	C	37	6.410481	0.97546	.	.	ENSG00000165219	ENST00000394084;ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123	.	.	.	5.84	3.89	0.44902	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8811	0.79205	0.1725:0.8274:0.0:0.0	.	.	.	.	X	154	.	ENSP00000265956:R154X	R	+	1	2	GAPVD1	127104357	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.882000	0.39648	0.672000	0.31204	0.655000	0.94253	CGA		0.378	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1		
MVB12B	89853	hgsc.bcm.edu	37	9	129184164	129184164	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:129184164C>T	ENST00000361171.3	+	7	775	c.694C>T	c.(694-696)Cga>Tga	p.R232*	MVB12B_ENST00000436593.3_Nonsense_Mutation_p.R217*	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B	232					protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)	p.R232*(1)									TGCCACCTTCCGAGGCAGGAA	0.547																																					p.R232X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C694T	9						.						170.0	142.0	152.0					9																	129184164		2203	4300	6503	128223985	SO:0001587	stop_gained	89853	exon7			AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 28"", ""family with sequence similarity 125, member B"""	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.694C>T	9.37:g.129184164C>T	ENSP00000354772:p.Arg232*		128223985	NM_033446	Q8N6S7	Nonsense_Mutation	SNP	ENST00000361171.3	37	CCDS35142.1	.	.	.	.	.	.	.	.	.	.	C	39	7.545393	0.98348	.	.	ENSG00000196814	ENST00000361171;ENST00000436593	.	.	.	5.09	4.14	0.48551	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8515	15.4598	0.75346	0.1388:0.8612:0.0:0.0	.	.	.	.	X	232;217	.	ENSP00000354772:R232X	R	+	1	2	FAM125B	128223985	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.378000	0.44309	2.526000	0.85167	0.585000	0.79938	CGA		0.547	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054110.1	XM_088525	
RALGPS1	9649	hgsc.bcm.edu	37	9	129728130	129728130	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:129728130G>A	ENST00000259351.5	+	3	332	c.65G>A	c.(64-66)aGc>aAc	p.S22N	RALGPS1_ENST00000373434.1_Missense_Mutation_p.S22N|RALGPS1_ENST00000424082.2_Missense_Mutation_p.S22N|RALGPS1_ENST00000394022.3_Missense_Mutation_p.S22N|RALGPS1_ENST00000373436.1_Missense_Mutation_p.S22N|RALGPS1_ENST00000394011.3_Missense_Mutation_p.S22N|RALGPS1_ENST00000480993.1_3'UTR	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	22	Poly-Ser.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.S22N(2)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CAGGGCAGCAGCAGCTCGGAC	0.537																																					p.S22N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G65A	9						.						81.0	79.0	80.0					9																	129728130		2203	4300	6503	128767951	SO:0001583	missense	9649	exon3			AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.65G>A	9.37:g.129728130G>A	ENSP00000259351:p.Ser22Asn		128767951	NM_014636	B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	ENST00000259351.5	37	CCDS35143.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015113	0.93404	.	.	ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000394022;ENST00000373439;ENST00000394011;ENST00000319107;ENST00000373436;ENST00000373434	T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.55	5.55	0.83447	Ras guanine nucleotide exchange factor, domain (1);	0.050644	0.85682	D	0.000000	T	0.53530	0.1802	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.67145	0.993;0.996;0.996;0.993	D;D;D;D	0.75484	0.968;0.986;0.986;0.968	T	0.50048	-0.8873	10	0.51188	T	0.08	.	18.2758	0.90083	0.0:0.0:1.0:0.0	.	22;22;22;22	E9PBQ5;Q5JS13-3;Q5JS13-2;Q5JS13	.;.;.;RGPS1_HUMAN	N	22	ENSP00000259351:S22N;ENSP00000415630:S22N;ENSP00000377590:S22N;ENSP00000377579:S22N;ENSP00000317149:S22N;ENSP00000362535:S22N;ENSP00000362533:S22N	ENSP00000259351:S22N	S	+	2	0	RALGPS1	128767951	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.555000	0.90693	2.607000	0.88179	0.561000	0.74099	AGC		0.537	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636	
TRUB2	26995	hgsc.bcm.edu	37	9	131087429	131087429	+	5'Flank	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:131087429C>T	ENST00000372890.4	-	0	0				TRUB2_ENST00000460320.1_5'Flank|TRUB2_ENST00000546104.1_5'Flank|COQ4_ENST00000300452.3_Silent_p.V70V|COQ4_ENST00000372875.3_Silent_p.V70V	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2						pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.V70V(1)		kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						CAGACATGGTCGCAGTTCTAG	0.537																																					p.V70V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C210T	9						.						70.0	63.0	66.0					9																	131087429		2203	4300	6503	130127250	SO:0001631	upstream_gene_variant	51117	exon3			AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741		9.37:g.131087429C>T	Exception_encountered		130127250	NM_016035	B7Z7G5	Silent	SNP	ENST00000372890.4	37	CCDS6897.1																																																																																				0.537	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	NM_015679	
SLC27A4	10999	hgsc.bcm.edu	37	9	131118031	131118031	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:131118031C>T	ENST00000300456.4	+	12	1847	c.1730C>T	c.(1729-1731)gCg>gTg	p.A577V	SLC27A4_ENST00000372870.1_Missense_Mutation_p.A171V	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	577					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.A577V(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						CCCCTGTATGCGCGCCCCATC	0.637																																					p.A577V	Pancreas(107;1554 2241 10946 12953)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1730T	9						.						93.0	82.0	86.0					9																	131118031		2203	4300	6503	130157852	SO:0001583	missense	10999	exon12			AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.1730C>T	9.37:g.131118031C>T	ENSP00000300456:p.Ala577Val		130157852	NM_005094	A8K2F7|O95186|Q96G53	Missense_Mutation	SNP	ENST00000300456.4	37	CCDS6899.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229311	0.79688	.	.	ENSG00000167114	ENST00000372870;ENST00000300456	T;T	0.63255	-0.03;-0.03	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.87541	0.6203	H	0.98559	4.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92404	0.5932	10	0.87932	D	0	-31.3721	17.3884	0.87423	0.0:1.0:0.0:0.0	.	171;577	Q96G53;Q6P1M0	.;S27A4_HUMAN	V	171;577	ENSP00000361961:A171V;ENSP00000300456:A577V	ENSP00000300456:A577V	A	+	2	0	SLC27A4	130157852	1.000000	0.71417	0.996000	0.52242	0.321000	0.28281	7.265000	0.78442	2.564000	0.86499	0.563000	0.77884	GCG		0.637	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2		
C9orf50	375759	hgsc.bcm.edu	37	9	132375762	132375762	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:132375762G>C	ENST00000372478.4	-	5	1196	c.995C>G	c.(994-996)gCc>gGc	p.A332G	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	332								p.A332G(1)		central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				CTCCTCCTTGGCCCCAGGGTA	0.642																																					p.A332G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C995G	9						.						51.0	50.0	50.0					9																	132375762		2203	4300	6503	131415583	SO:0001583	missense	375759	exon5			AK093122	CCDS35159.1	9q34.2	2012-03-15			ENSG00000179058	ENSG00000179058			23677	protein-coding gene	gene with protein product							Standard	NM_199350		Approved	FLJ35803	uc004byc.4	Q5SZB4	OTTHUMG00000020786	ENST00000372478.4:c.995C>G	9.37:g.132375762G>C	ENSP00000361556:p.Ala332Gly		131415583	NM_199350	Q2M1I2|Q8NA65	Missense_Mutation	SNP	ENST00000372478.4	37	CCDS35159.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294838	0.60086	.	.	ENSG00000179058	ENST00000372478	T	0.24151	1.87	3.27	1.99	0.26369	.	0.442916	0.16837	N	0.197486	T	0.24624	0.0597	L	0.27053	0.805	0.09310	N	1	D	0.58268	0.982	P	0.54965	0.765	T	0.04885	-1.0920	10	0.54805	T	0.06	-10.0377	4.8343	0.13456	0.2467:0.0:0.7533:0.0	.	332	Q5SZB4	CI050_HUMAN	G	332	ENSP00000361556:A332G	ENSP00000361556:A332G	A	-	2	0	C9orf50	131415583	0.002000	0.14202	0.010000	0.14722	0.371000	0.29859	0.492000	0.22435	0.640000	0.30582	0.456000	0.33151	GCC		0.642	C9orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054593.1	NM_199350	
ABL1	25	hgsc.bcm.edu	37	9	133759524	133759524	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:133759524A>G	ENST00000318560.5	+	11	2228	c.1847A>G	c.(1846-1848)aAa>aGa	p.K616R		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	616					actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.K616R(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	ACCCCTCCCAAACGCAGCAGC	0.597			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																p.K616R			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1847G	9						.						57.0	67.0	64.0					9																	133759524		2203	4300	6503	132749345	SO:0001583	missense	25	exon11			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1847A>G	9.37:g.133759524A>G	ENSP00000323315:p.Lys616Arg		132749345	NM_005157	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.222224	0.79464	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.13901	2.55;2.55	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	M	0.65975	2.015	0.80722	D	1	D;D	0.65815	0.995;0.995	D;P	0.63597	0.916;0.861	T	0.05053	-1.0909	10	0.72032	D	0.01	.	14.9117	0.70761	1.0:0.0:0.0:0.0	.	616;653	P00519;Q59FK4	ABL1_HUMAN;.	R	431;635;616	ENSP00000361423:K635R;ENSP00000323315:K616R	ENSP00000323315:K616R	K	+	2	0	ABL1	132749345	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	6.282000	0.72639	2.117000	0.64856	0.459000	0.35465	AAA		0.597	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313	
LAMC3	10319	hgsc.bcm.edu	37	9	133936445	133936445	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:133936445A>G	ENST00000361069.4	+	13	2315	c.2182A>G	c.(2182-2184)Acc>Gcc	p.T728A	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	728	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.T728A(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CAGCCACCATACCGAGGGCCC	0.617																																					p.T728A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2182G	9						.						86.0	79.0	81.0					9																	133936445		2203	4300	6503	132926266	SO:0001583	missense	10319	exon13			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.2182A>G	9.37:g.133936445A>G	ENSP00000354360:p.Thr728Ala		132926266	NM_006059	B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.560012	0.65538	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.63580	-0.05	4.79	4.79	0.61399	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.83317	0.5228	M	0.93375	3.41	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.87620	0.2509	10	0.87932	D	0	.	13.1553	0.59514	1.0:0.0:0.0:0.0	.	728	Q9Y6N6	LAMC3_HUMAN	A	728	ENSP00000354360:T728A	ENSP00000347156:T728A	T	+	1	0	LAMC3	132926266	1.000000	0.71417	1.000000	0.80357	0.275000	0.26752	8.873000	0.92357	1.798000	0.52647	0.455000	0.32223	ACC		0.617	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059	
SURF2	6835	hgsc.bcm.edu	37	9	136227994	136227994	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:136227994C>T	ENST00000371964.4	+	6	791	c.750C>T	c.(748-750)agC>agT	p.S250S	SURF4_ENST00000467910.1_5'Flank	NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	250						nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S250S(1)		breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		AGAGCTTCAGCTCCTGTAAAC	0.448																																					p.S250S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C750T	9						.						148.0	150.0	149.0					9																	136227994		2203	4300	6503	135217815	SO:0001819	synonymous_variant	6835	exon6				CCDS6967.1	9q33-q34	2008-07-21			ENSG00000148291	ENSG00000148291			11475	protein-coding gene	gene with protein product	"""surfeit locus protein 2"""	185630					Standard	NM_017503		Approved		uc004cdi.2	Q15527	OTTHUMG00000020867	ENST00000371964.4:c.750C>T	9.37:g.136227994C>T			135217815	NM_017503	Q6IBP9|Q96CD1	Silent	SNP	ENST00000371964.4	37	CCDS6967.1																																																																																				0.448	SURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054883.1	NM_017503	
SARDH	1757	hgsc.bcm.edu	37	9	136561450	136561450	+	Missense_Mutation	SNP	C	C	T	rs200850275		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:136561450C>T	ENST00000371872.4	-	14	1959	c.1702G>A	c.(1702-1704)Gcc>Acc	p.A568T	SARDH_ENST00000371868.1_5'UTR|SARDH_ENST00000439388.1_Missense_Mutation_p.A568T|SARDH_ENST00000422262.2_Missense_Mutation_p.A400T	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	568					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)	p.A568T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		AACACAGCGGCGGCCCCTCTG	0.587																																					p.A568T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1702A	9						.						78.0	74.0	75.0					9																	136561450		2203	4300	6503	135551271	SO:0001583	missense	1757	exon14				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1702G>A	9.37:g.136561450C>T	ENSP00000360938:p.Ala568Thr		135551271	NM_007101	B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653690	0.88056	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237	D;D;D	0.85484	-1.99;-1.99;-1.99	5.25	5.25	0.73442	.	0.187779	0.45867	D	0.000330	D	0.89230	0.6656	M	0.83774	2.66	0.80722	D	1	D	0.59357	0.985	P	0.50109	0.631	D	0.90529	0.4494	10	0.56958	D	0.05	-13.1823	14.9	0.70672	0.0:0.8559:0.144:0.0	.	568	Q9UL12	SARDH_HUMAN	T	568;568;400;568	ENSP00000360938:A568T;ENSP00000403084:A568T;ENSP00000415537:A400T	ENSP00000360938:A568T	A	-	1	0	SARDH	135551271	0.992000	0.36948	0.345000	0.25642	0.908000	0.53690	3.249000	0.51437	2.410000	0.81850	0.655000	0.94253	GCC		0.587	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1		
CAMSAP1	157922	hgsc.bcm.edu	37	9	138707777	138707777	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:138707777G>A	ENST00000389532.4	-	15	4410	c.4346C>T	c.(4345-4347)gCg>gTg	p.A1449V	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.A1171V|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.A1460V|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1449					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)	p.A1449V(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGCCGCCGACGCGGTCTCCCA	0.607																																					p.A1449V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4346T	9						.						99.0	84.0	89.0					9																	138707777		2203	4300	6503	137847598	SO:0001583	missense	157922	exon15			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.4346C>T	9.37:g.138707777G>A	ENSP00000374183:p.Ala1449Val		137847598	NM_015447	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475526	0.43942	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.16324	2.36;2.35;2.36	5.18	3.33	0.38152	.	0.109289	0.64402	D	0.000007	T	0.18215	0.0437	N	0.25485	0.75	0.33132	D	0.543225	P;P	0.50617	0.47;0.937	B;P	0.50825	0.03;0.651	T	0.17837	-1.0356	10	0.87932	D	0	-25.5592	10.6278	0.45519	0.072:0.1331:0.7949:0.0	.	1449;1460	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	V	1449;1171;1460	ENSP00000374183:A1449V;ENSP00000312463:A1171V;ENSP00000386420:A1460V	ENSP00000312463:A1171V	A	-	2	0	CAMSAP1	137847598	1.000000	0.71417	0.002000	0.10522	0.012000	0.07955	7.037000	0.76531	0.578000	0.29487	-0.175000	0.13238	GCG		0.607	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857	
CAMSAP1	157922	hgsc.bcm.edu	37	9	138707780	138707780	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:138707780G>A	ENST00000389532.4	-	15	4407	c.4343C>T	c.(4342-4344)aCc>aTc	p.T1448I	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.T1170I|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.T1459I|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1448					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)	p.T1448I(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CGCCGACGCGGTCTCCCAGTC	0.612																																					p.T1448I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4343T	9						.						105.0	87.0	93.0					9																	138707780		2203	4300	6503	137847601	SO:0001583	missense	157922	exon15			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.4343C>T	9.37:g.138707780G>A	ENSP00000374183:p.Thr1448Ile		137847601	NM_015447	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778990	0.31502	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.14766	2.49;2.48;2.49	5.18	2.02	0.26589	.	0.157360	0.56097	D	0.000040	T	0.08447	0.0210	N	0.14661	0.345	0.33965	D	0.646073	P;P	0.47841	0.901;0.545	P;B	0.44359	0.447;0.417	T	0.24225	-1.0166	10	0.87932	D	0	-30.5319	6.0868	0.19973	0.1848:0.0:0.5864:0.2288	.	1448;1459	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	I	1448;1170;1459	ENSP00000374183:T1448I;ENSP00000312463:T1170I;ENSP00000386420:T1459I	ENSP00000312463:T1170I	T	-	2	0	CAMSAP1	137847601	1.000000	0.71417	0.119000	0.21687	0.161000	0.22273	6.595000	0.74109	0.587000	0.29643	0.655000	0.94253	ACC		0.612	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857	
PHPT1	29085	hgsc.bcm.edu	37	9	139745255	139745255	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:139745255A>T	ENST00000247665.10	+	3	671	c.334A>T	c.(334-336)Aag>Tag	p.K112*	PHPT1_ENST00000492540.1_3'UTR|MAMDC4_ENST00000445819.1_5'Flank|MAMDC4_ENST00000317446.2_5'Flank|PHPT1_ENST00000371661.1_3'UTR|PHPT1_ENST00000545326.1_3'UTR	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1	112					negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)	p.K112*(1)		NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		AATCAAAGCCAAGTACCCCGA	0.602																																					p.K112X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.A334T	9						.						109.0	100.0	103.0					9																	139745255		2203	4300	6503	138865076	SO:0001587	stop_gained	29085	exon3			AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"""phosphohistidine phosphatase 14kDa"", "" sex-regulated protein janus-a"""	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950	ENST00000247665.10:c.334A>T	9.37:g.139745255A>T	ENSP00000247665:p.Lys112*		138865076	NM_014172	B1AMX0|B1AMX1|Q9H0Y3	Nonsense_Mutation	SNP	ENST00000247665.10	37	CCDS7009.1	.	.	.	.	.	.	.	.	.	.	.	37	6.342158	0.97489	.	.	ENSG00000054148	ENST00000247665	.	.	.	4.64	1.95	0.26073	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-0.0022	7.0109	0.24861	0.6427:0.276:0.0813:0.0	.	.	.	.	X	112	.	ENSP00000247665:K112X	K	+	1	0	PHPT1	138865076	0.000000	0.05858	0.997000	0.53966	0.685000	0.39939	0.119000	0.15626	0.680000	0.31366	0.379000	0.24179	AAG		0.602	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055150.1	NM_014172	
DPP7	29952	hgsc.bcm.edu	37	9	140005398	140005398	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:140005398C>T	ENST00000371579.2	-	12	1281	c.1277G>A	c.(1276-1278)cGg>cAg	p.R426Q		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	426						cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.R426Q(1)		endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		CAGGTTCCTCCGAATCTGTGG	0.652																																					p.R426Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1277A	9						.						87.0	56.0	66.0					9																	140005398		2197	4300	6497	139125219	SO:0001583	missense	29952	exon12			AF154502	CCDS7030.1	9q34.3	2008-02-05	2006-01-12		ENSG00000176978	ENSG00000176978			14892	protein-coding gene	gene with protein product		610537	"""dipeptidylpeptidase 7"""			10477574, 11139392	Standard	XM_005266075		Approved	DPPII	uc004clh.3	Q9UHL4	OTTHUMG00000020977	ENST00000371579.2:c.1277G>A	9.37:g.140005398C>T	ENSP00000360635:p.Arg426Gln		139125219	NM_013379	A8K7U7|Q5VSF1|Q969X4	Missense_Mutation	SNP	ENST00000371579.2	37	CCDS7030.1	.	.	.	.	.	.	.	.	.	.	C	9.020	0.984562	0.18889	.	.	ENSG00000176978	ENST00000371579	D	0.92249	-3.0	4.72	-9.44	0.00603	.	0.988395	0.08220	N	0.979309	T	0.81034	0.4739	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.01281	0.0	T	0.65034	-0.6266	10	0.20519	T	0.43	-3.1443	10.2324	0.43262	0.1682:0.1182:0.0:0.7136	.	426	Q9UHL4	DPP2_HUMAN	Q	426	ENSP00000360635:R426Q	ENSP00000360635:R426Q	R	-	2	0	DPP7	139125219	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.581000	0.02119	-3.096000	0.00246	-2.871000	0.00099	CGG		0.652	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055279.1	NM_013379	
VLDLR	7436	hgsc.bcm.edu	37	9	2648277	2648277	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:2648277G>A	ENST00000382100.3	+	13	2248	c.1892G>A	c.(1891-1893)gGc>gAc	p.G631D	VLDLR_ENST00000382099.2_Missense_Mutation_p.G631D	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	631					cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.G631D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GACTTGAATGGCCAAGATCGT	0.403																																					p.G631D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1892A	9						.						146.0	137.0	140.0					9																	2648277		2203	4300	6503	2638277	SO:0001583	missense	7436	exon13				CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.1892G>A	9.37:g.2648277G>A	ENSP00000371532:p.Gly631Asp		2638277	NM_001018056	B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	37	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	G	33	5.263630	0.95399	.	.	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	D;D	0.99176	-5.52;-5.52	5.79	5.79	0.91817	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.52532	D	0.000074	D	0.99521	0.9829	M	0.93763	3.455	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	0.98446	1.0589	10	0.72032	D	0.01	.	20.0371	0.97565	0.0:0.0:1.0:0.0	.	631;631;631	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	D	631;631;510	ENSP00000371532:G631D;ENSP00000371531:G631D	ENSP00000371524:G510D	G	+	2	0	VLDLR	2638277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.734000	0.93682	0.655000	0.94253	GGC		0.403	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383	
CCDC171	203238	hgsc.bcm.edu	37	9	15744434	15744434	+	Nonsense_Mutation	SNP	T	T	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:15744434T>G	ENST00000380701.3	+	17	2541	c.2213T>G	c.(2212-2214)tTa>tGa	p.L738*	CCDC171_ENST00000297641.3_Nonsense_Mutation_p.L738*	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	738								p.L738*(1)									GCTGGTGCCTTATATCCCCTC	0.443																																					p.L738X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T2213G	9						.						110.0	115.0	113.0					9																	15744434		2203	4300	6503	15734434	SO:0001587	stop_gained	203238	exon17			AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.2213T>G	9.37:g.15744434T>G	ENSP00000370077:p.Leu738*		15734434	NM_173550	B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Nonsense_Mutation	SNP	ENST00000380701.3	37	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	T	45	11.415915	0.99558	.	.	ENSG00000164989	ENST00000297641;ENST00000380689;ENST00000380701	.	.	.	5.62	5.62	0.85841	.	0.228802	0.37304	N	0.002155	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.1351	16.1135	0.81278	0.0:0.0:0.0:1.0	.	.	.	.	X	738;5;738	.	ENSP00000297641:L738X	L	+	2	0	C9orf93	15734434	0.568000	0.26635	0.112000	0.21494	0.995000	0.86356	5.433000	0.66520	2.267000	0.75376	0.383000	0.25322	TTA		0.443	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550	
ADAMTSL1	92949	hgsc.bcm.edu	37	9	18661951	18661951	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:18661951C>T	ENST00000380548.4	+	9	1304	c.965C>T	c.(964-966)gCt>gTt	p.A322V	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.A322V|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.A322V|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.A322V	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	322						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A322V(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTGACATCGGCTGAGTGCTAC	0.443																																					p.A322V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C965T	9						.						101.0	82.0	89.0					9																	18661951		2203	4300	6503	18651951	SO:0001583	missense	92949	exon9			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.965C>T	9.37:g.18661951C>T	ENSP00000369921:p.Ala322Val		18651951	NM_052866	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305708	0.40795	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000380566;ENST00000276935	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.49	5.49	0.81192	.	.	.	.	.	T	0.51415	0.1673	N	0.05383	-0.06	0.80722	D	1	D;B	0.89917	1.0;0.216	D;B	0.91635	0.999;0.237	T	0.43940	-0.9360	9	0.06365	T	0.9	.	19.3747	0.94503	0.0:1.0:0.0:0.0	.	322;322	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	V	322	ENSP00000369921:A322V;ENSP00000327887:A322V;ENSP00000369940:A322V;ENSP00000276935:A322V	ENSP00000276935:A322V	A	+	2	0	ADAMTSL1	18651951	1.000000	0.71417	0.996000	0.52242	0.867000	0.49689	7.770000	0.85390	2.593000	0.87608	0.655000	0.94253	GCT		0.443	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		
ELAVL2	1993	hgsc.bcm.edu	37	9	23701560	23701560	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:23701560A>C	ENST00000397312.2	-	5	804	c.530T>G	c.(529-531)aTt>aGt	p.I177S	ELAVL2_ENST00000380117.1_Missense_Mutation_p.I177S|ELAVL2_ENST00000380110.4_Missense_Mutation_p.I206S|ELAVL2_ENST00000544538.1_Missense_Mutation_p.I177S|ELAVL2_ENST00000223951.6_Missense_Mutation_p.I177S	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	177	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.I177S(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TTCTGCCTCAATTCGCTTGTC	0.448																																					p.I177S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T530G	9						.						197.0	199.0	198.0					9																	23701560		2203	4300	6503	23691560	SO:0001583	missense	1993	exon5			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.530T>G	9.37:g.23701560A>C	ENSP00000380479:p.Ile177Ser		23691560	NM_001171197	D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	A	10.87	1.472156	0.26423	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000423281;ENST00000440102	T;T;T;T;T;T	0.14640	2.49;3.5;3.5;3.5;2.49;2.49	5.92	5.92	0.95590	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.046936	0.85682	D	0.000000	T	0.05640	0.0148	N	0.01473	-0.845	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.14578	0.011;0.003	T	0.38950	-0.9637	10	0.09843	T	0.71	.	16.3663	0.83325	1.0:0.0:0.0:0.0	.	177;177	Q12926;Q12926-2	ELAV2_HUMAN;.	S	177;177;177;177;177;205;42;177	ENSP00000223951:I177S;ENSP00000380479:I177S;ENSP00000440998:I177S;ENSP00000369460:I177S;ENSP00000391757:I42S;ENSP00000412602:I177S	ENSP00000223951:I177S	I	-	2	0	ELAVL2	23691560	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.938000	0.92943	2.269000	0.75478	0.460000	0.39030	ATT		0.448	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432	
ARID3C	138715	hgsc.bcm.edu	37	9	34618742	34618742	+	IGR	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:34618742C>T	ENST00000378909.2	-	0	1411				DCTN3_ENST00000479399.1_5'Flank|DCTN3_ENST00000378913.2_Missense_Mutation_p.V38I|DCTN3_ENST00000378916.4_Missense_Mutation_p.V38I|DCTN3_ENST00000447983.2_Missense_Mutation_p.V38I|DCTN3_ENST00000477738.2_Missense_Mutation_p.V38I|DCTN3_ENST00000259632.7_Missense_Mutation_p.V38I|DCTN3_ENST00000341694.2_Missense_Mutation_p.V38I	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.V38I(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		TGCACCTTGACCAGGCCGTCA	0.498																																					p.V38I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G112A	9						.						139.0	114.0	123.0					9																	34618742		2203	4300	6503	34608742	SO:0001628	intergenic_variant	11258	exon2				CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143		"""-"""	21209	protein-coding gene	gene with protein product			"""AT rich interactive domain 3C (BRIGHT- like)"""				Standard	NM_001017363		Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445		9.37:g.34618742C>T			34608742	NM_024348		Missense_Mutation	SNP	ENST00000378909.2	37	CCDS35006.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970701	0.74246	.	.	ENSG00000137100	ENST00000421919;ENST00000259632;ENST00000341694;ENST00000378916;ENST00000447983;ENST00000378913;ENST00000378911	.	.	.	4.98	4.98	0.66077	.	0.132235	0.52532	D	0.000072	T	0.54806	0.1881	L	0.54323	1.7	0.31313	N	0.686898	P;P	0.51933	0.574;0.949	B;P	0.52881	0.366;0.712	T	0.58983	-0.7539	9	0.35671	T	0.21	-26.5041	15.1391	0.72595	0.0:1.0:0.0:0.0	.	38;38	O75935;O75935-2	DCTN3_HUMAN;.	I	31;38;38;38;38;38;38	.	ENSP00000259632:V38I	V	-	1	0	DCTN3	34608742	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	3.733000	0.55029	2.586000	0.87340	0.643000	0.83706	GTC		0.498	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348265.1	XM_071061	
TPM2	7169	hgsc.bcm.edu	37	9	35683182	35683182	+	Missense_Mutation	SNP	C	C	T	rs371325326		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:35683182C>T	ENST00000360958.2	-	9	933	c.829G>A	c.(829-831)Gca>Aca	p.A277T	TPM2_ENST00000329305.2_Intron|TPM2_ENST00000378300.5_Intron|TPM2_ENST00000378292.3_Intron	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	277					muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)	p.A277T(1)		NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCATTGAGTGCGTTGTCCAGT	0.582																																					p.A277T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G829A	9						.	C	THR/ALA,	0,4390		0,0,2195	258.0	176.0	204.0		829,	4.8	1.0	9		204	1,8547		0,1,4273	no	missense,intron	TPM2	NM_003289.3,NM_213674.1	58,	0,1,6468	TT,TC,CC		0.0117,0.0,0.0077	,	277/285,	35683182	1,12937	2195	4274	6469	35673182	SO:0001583	missense	7169	exon9				CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"""Tropomyosins"""	12011	protein-coding gene	gene with protein product	"""nemaline myopathy type 4"""	190990	"""arthrogryposis multiplex congenital, distal, type 1"""	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.829G>A	9.37:g.35683182C>T	ENSP00000354219:p.Ala277Thr		35673182	NM_003289	A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Missense_Mutation	SNP	ENST00000360958.2	37	CCDS6587.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595902	0.28445	0.0	1.17E-4	ENSG00000198467	ENST00000360958	D	0.96300	-3.97	4.77	4.77	0.60923	.	.	.	.	.	D	0.86100	0.5852	N	0.00894	-1.105	0.52501	D	0.999954	B;B	0.06786	0.001;0.0	B;B	0.14023	0.01;0.005	T	0.82786	-0.0285	9	0.02654	T	1	.	17.3132	0.87215	0.0:1.0:0.0:0.0	.	277;277	A7XZE4;P07951	.;TPM2_HUMAN	T	277	ENSP00000354219:A277T	ENSP00000354219:A277T	A	-	1	0	TPM2	35673182	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.606000	0.82863	2.645000	0.89757	0.655000	0.94253	GCA		0.582	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052376.1	NM_003289	
TLN1	7094	hgsc.bcm.edu	37	9	35733420	35733422	+	5'Flank	DEL	GAG	GAG	-	rs200356824		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	GAG	GAG	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:35733420_35733422delGAG	ENST00000314888.9	-	0	0				CREB3_ENST00000486056.1_3'UTR|CREB3_ENST00000353704.2_In_Frame_Del_p.E126del|TLN1_ENST00000540444.1_5'Flank	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1						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.E125delE(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)			ACTGACAGATGAGGAGAAGAGTC	0.493																																					p.125_125del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.373_375del	9						.																																			35723422	SO:0001631	upstream_gene_variant	10488	exon4			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		9.37:g.35733423_35733425delGAG	Exception_encountered		35723420	NM_006368	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	In_Frame_Del	DEL	ENST00000314888.9	37	CCDS35009.1																																																																																				0.493	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289	
CCIN	881	hgsc.bcm.edu	37	9	36169849	36169849	+	Missense_Mutation	SNP	G	G	A	rs547325705		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:36169849G>A	ENST00000335119.2	+	1	461	c.350G>A	c.(349-351)cGa>cAa	p.R117Q		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	117	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.R117L(1)|p.R117Q(1)		breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CCACGCCTTCGAGTTCACTGT	0.507																																					p.R117Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G350A	9						.						123.0	106.0	112.0					9																	36169849		2203	4300	6503	36159849	SO:0001583	missense	881	exon1			Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.350G>A	9.37:g.36169849G>A	ENSP00000334996:p.Arg117Gln		36159849	NM_005893	Q9BXG7	Missense_Mutation	SNP	ENST00000335119.2	37	CCDS6599.1	.	.	.	.	.	.	.	.	.	.	G	9.452	1.090890	0.20471	.	.	ENSG00000185972	ENST00000335119	T	0.70749	-0.51	5.26	3.4	0.38934	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.136685	0.32273	N	0.006338	T	0.51787	0.1695	L	0.28014	0.82	0.09310	N	0.999998	B	0.19331	0.035	B	0.09377	0.004	T	0.31336	-0.9947	10	0.25106	T	0.35	.	7.6467	0.28325	0.1909:0.0:0.8091:0.0	.	117	Q13939	CALI_HUMAN	Q	117	ENSP00000334996:R117Q	ENSP00000334996:R117Q	R	+	2	0	CCIN	36159849	0.121000	0.22262	0.890000	0.34922	0.900000	0.52787	0.886000	0.28241	1.358000	0.45922	-0.448000	0.05591	CGA		0.507	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893	
GNA14	9630	hgsc.bcm.edu	37	9	80040627	80040627	+	Missense_Mutation	SNP	C	C	T	rs532679687		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:80040627C>T	ENST00000341700.6	-	6	1241	c.728G>A	c.(727-729)cGc>cAc	p.R243H	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	243					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R243H(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						CTCTTCCATGCGATTCTAAGT	0.413																																					p.R243H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G728A	9						.						86.0	87.0	87.0					9																	80040627		2203	4300	6503	79230447	SO:0001583	missense	9630	exon6			AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.728G>A	9.37:g.80040627C>T	ENSP00000365807:p.Arg243His		79230447	NM_004297	B1ALW3	Missense_Mutation	SNP	ENST00000341700.6	37	CCDS6657.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799842	0.90538	.	.	ENSG00000156049	ENST00000341700	D	0.92249	-3.0	5.69	5.69	0.88448	.	0.050910	0.85682	D	0.000000	D	0.97393	0.9147	H	0.97265	3.97	0.48395	D	0.999643	D	0.71674	0.998	D	0.71184	0.972	D	0.98245	1.0490	10	0.87932	D	0	.	14.0528	0.64749	0.0:0.926:0.0:0.074	.	243	O95837	GNA14_HUMAN	H	243	ENSP00000365807:R243H	ENSP00000365807:R243H	R	-	2	0	GNA14	79230447	0.996000	0.38824	1.000000	0.80357	0.943000	0.58893	3.350000	0.52224	2.684000	0.91462	0.650000	0.86243	CGC		0.413	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1		
ZCCHC6	79670	hgsc.bcm.edu	37	9	88967722	88967722	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:88967722G>T	ENST00000375963.3	-	2	565	c.393C>A	c.(391-393)gaC>gaA	p.D131E	ZCCHC6_ENST00000375961.2_Missense_Mutation_p.D131E|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.D131E|ZCCHC6_ENST00000375947.1_5'Flank	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	131					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.D131E(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CTTGAAAGGAGTCTTTTCTTT	0.403																																					p.D131E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C393A	9						.						209.0	211.0	211.0					9																	88967722		2203	4300	6503	88157542	SO:0001583	missense	79670	exon2			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.393C>A	9.37:g.88967722G>T	ENSP00000365130:p.Asp131Glu		88157542	NM_024617	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.954551	0.34471	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963	T;T;T	0.55052	0.54;0.54;0.59	5.2	1.13	0.20643	.	0.151535	0.44688	N	0.000430	T	0.27629	0.0679	N	0.17082	0.46	0.22581	N	0.998969	B;B;B;B;B	0.24043	0.031;0.031;0.011;0.096;0.032	B;B;B;B;B	0.24155	0.026;0.026;0.016;0.051;0.012	T	0.08576	-1.0715	10	0.36615	T	0.2	-3.2414	1.1259	0.01735	0.215:0.1239:0.392:0.2691	.	131;131;131;131;131	Q5VYS8-3;Q5VYS8-5;Q5VYS8-2;Q5VYS8-4;Q5VYS8	.;.;.;.;TUT7_HUMAN	E	131	ENSP00000365127:D131E;ENSP00000365128:D131E;ENSP00000365130:D131E	ENSP00000365127:D131E	D	-	3	2	ZCCHC6	88157542	0.853000	0.29707	0.764000	0.31436	0.985000	0.73830	0.460000	0.21924	0.039000	0.15632	0.591000	0.81541	GAC		0.403	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617	
NFIL3	4783	hgsc.bcm.edu	37	9	94172201	94172201	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:94172201C>T	ENST00000297689.3	-	2	1210	c.816G>A	c.(814-816)ccG>ccA	p.P272P		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	272					cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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 sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.P272P(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						CCGACGTTCTCGGGGAGTTGC	0.507																																					p.P272P	Esophageal Squamous(152;732 1832 10053 26981 51762)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G816A	9						.						130.0	131.0	131.0					9																	94172201		2203	4300	6503	93212022	SO:0001819	synonymous_variant	4783	exon2			X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"""basic leucine zipper proteins"""	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.816G>A	9.37:g.94172201C>T			93212022	NM_005384	B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Silent	SNP	ENST00000297689.3	37	CCDS6690.1																																																																																				0.507	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384	
SPTLC1	10558	hgsc.bcm.edu	37	9	94797134	94797134	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:94797134G>A	ENST00000262554.2	-	14	1291	c.1286C>T	c.(1285-1287)gCg>gTg	p.A429V		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	429					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.A429V(1)		breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	CAAGTAGCGCGCCTGAGTTAA	0.433																																					p.A429V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1286T	9						.						175.0	156.0	162.0					9																	94797134		2203	4300	6503	93836955	SO:0001583	missense	10558	exon14			Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.1286C>T	9.37:g.94797134G>A	ENSP00000262554:p.Ala429Val		93836955	NM_006415	A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	ENST00000262554.2	37	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630041	0.67015	.	.	ENSG00000090054	ENST00000262554	D	0.90197	-2.63	5.02	5.02	0.67125	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.90222	0.6943	L	0.32530	0.975	0.80722	D	1	P;P	0.52577	0.902;0.954	P;P	0.52514	0.701;0.581	D	0.91118	0.4927	10	0.59425	D	0.04	-18.3643	17.2513	0.87043	0.0:0.0:1.0:0.0	.	429;429	Q6NUL7;O15269	.;SPTC1_HUMAN	V	429	ENSP00000262554:A429V	ENSP00000262554:A429V	A	-	2	0	SPTLC1	93836955	1.000000	0.71417	0.961000	0.40146	0.213000	0.24496	6.932000	0.75869	2.607000	0.88179	0.491000	0.48974	GCG		0.433	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415	
PHF2	5253	hgsc.bcm.edu	37	9	96438003	96438003	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:96438003C>T	ENST00000359246.4	+	20	3131	c.2764C>T	c.(2764-2766)Cgt>Tgt	p.R922C	PHF2_ENST00000375376.4_Missense_Mutation_p.R153C	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	922					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R922C(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CAGGCCTGTGCGTGAGGGTAC	0.652																																					p.R922C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2764T	9						.						88.0	77.0	81.0					9																	96438003		2203	4300	6503	95477824	SO:0001583	missense	5253	exon20			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.2764C>T	9.37:g.96438003C>T	ENSP00000352185:p.Arg922Cys		95477824	NM_005392	Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307070	0.81247	.	.	ENSG00000197724	ENST00000359246;ENST00000375376	T;T	0.60797	0.16;0.16	5.13	5.13	0.70059	.	0.058914	0.64402	D	0.000004	T	0.74107	0.3673	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	T	0.76926	-0.2778	10	0.87932	D	0	-14.0196	18.5636	0.91110	0.0:1.0:0.0:0.0	.	341;922	Q8N359;O75151	.;PHF2_HUMAN	C	922;153	ENSP00000352185:R922C;ENSP00000364525:R153C	ENSP00000352185:R922C	R	+	1	0	PHF2	95477824	1.000000	0.71417	0.995000	0.50966	0.962000	0.63368	3.821000	0.55700	2.375000	0.81037	0.561000	0.74099	CGT		0.652	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392	
ARRDC1-AS1	85026	hgsc.bcm.edu	37	9	140510176	140510176	+	Missense_Mutation	SNP	G	G	A	rs142758560		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr9:140510176G>A	ENST00000371417.3	-	3	1016	c.476C>T	c.(475-477)gCg>gTg	p.A159V	C9orf37_ENST00000496793.1_5'Flank	NM_032937.4	NP_116326.2	Q9H2J1	CI037_HUMAN		159								p.A159V(1)		breast(1)|large_intestine(2)	3	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		TGAGAAACCCGCTGGCGCGTG	0.632																																					p.A159V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C476T	9						.	G	VAL/ALA	2,4402	4.2+/-10.8	0,2,2200	40.0	35.0	37.0		476	-5.2	0.0	9	dbSNP_134	37	0,8600		0,0,4300	no	missense	C9orf37	NM_032937.4	64	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	benign	159/177	140510176	2,13002	2202	4300	6502	139629997	SO:0001583	missense	85026	exon3																														ENST00000371417.3:c.476C>T	9.37:g.140510176G>A	ENSP00000360471:p.Ala159Val		139629997	NM_032937	Q17RM5|Q5T368	Missense_Mutation	SNP	ENST00000371417.3	37	CCDS35189.1	.	.	.	.	.	.	.	.	.	.	g	2.369	-0.344836	0.05208	4.54E-4	0.0	ENSG00000203993	ENST00000371417	.	.	.	2.59	-5.18	0.02840	.	.	.	.	.	T	0.14743	0.0356	N	0.08118	0	0.09310	N	1	B	0.27932	0.194	B	0.24006	0.05	T	0.18209	-1.0344	8	0.87932	D	0	.	4.4199	0.11476	0.5551:0.0:0.1604:0.2845	.	159	Q9H2J1	CI037_HUMAN	V	159	.	ENSP00000360471:A159V	A	-	2	0	C9orf37	139629997	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.183000	0.00568	-2.008000	0.00955	-0.403000	0.06358	GCG		0.632	C9orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055328.1		
RAB20	55647	hgsc.bcm.edu	37	13	111176043	111176043	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr13:111176043G>T	ENST00000267328.3	-	2	887	c.674C>A	c.(673-675)cCc>cAc	p.P225H		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	225					phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)	p.P225H(1)		endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			GGTCCTCTTGGGTGGCTTATG	0.542																																					p.P225H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C674A	13						.						154.0	118.0	131.0					13																	111176043		2203	4300	6503	109974044	SO:0001583	missense	55647	exon2			AK000436	CCDS9512.1	13q34	2008-07-18			ENSG00000139832	ENSG00000139832		"""RAB, member RAS oncogene"""	18260	protein-coding gene	gene with protein product						11697911	Standard	NM_017817		Approved	FLJ20429	uc001vqy.3	Q9NX57	OTTHUMG00000017343	ENST00000267328.3:c.674C>A	13.37:g.111176043G>T	ENSP00000267328:p.Pro225His		109974044	NM_017817	Q5T9X5|Q9NX49	Missense_Mutation	SNP	ENST00000267328.3	37	CCDS9512.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699765	0.48307	.	.	ENSG00000139832	ENST00000267328	T	0.67698	-0.28	5.21	3.41	0.39046	.	0.747967	0.13553	N	0.379318	T	0.61123	0.2322	L	0.60455	1.87	0.09310	N	1	P	0.51653	0.947	B	0.40741	0.339	T	0.55166	-0.8183	10	0.59425	D	0.04	-29.0797	10.1345	0.42697	0.0722:0.0:0.7926:0.1352	.	225	Q9NX57	RAB20_HUMAN	H	225	ENSP00000267328:P225H	ENSP00000267328:P225H	P	-	2	0	RAB20	109974044	0.992000	0.36948	0.025000	0.17156	0.255000	0.26057	3.407000	0.52644	1.145000	0.42336	0.561000	0.74099	CCC		0.542	RAB20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045760.2	NM_017817	
ATP11A	23250	hgsc.bcm.edu	37	13	113473680	113473680	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr13:113473680C>T	ENST00000487903.1	+	7	721	c.633C>T	c.(631-633)caC>caT	p.H211H	ATP11A_ENST00000283558.8_Silent_p.H211H|ATP11A_ENST00000375630.2_Silent_p.H211H|ATP11A_ENST00000375645.3_Silent_p.H211H			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	211					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.H211H(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GCGGACTTCACGCCACCATCG	0.527																																					p.H211H												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C633T	13						.						101.0	89.0	93.0					13																	113473680		2203	4300	6503	112521681	SO:0001819	synonymous_variant	23250	exon7			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.633C>T	13.37:g.113473680C>T			112521681	NM_015205	Q5VXT2	Silent	SNP	ENST00000487903.1	37	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	C	1.240	-0.621592	0.03636	.	.	ENSG00000068650	ENST00000418678	.	.	.	5.34	-6.83	0.01693	.	.	.	.	.	T	0.45558	0.1348	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46261	-0.9204	4	.	.	.	.	5.6954	0.17853	0.0978:0.1367:0.0984:0.6671	.	.	.	.	M	186	.	.	T	+	2	0	ATP11A	112521681	0.095000	0.21747	0.005000	0.12908	0.096000	0.18686	-0.598000	0.05706	-1.683000	0.01444	-0.768000	0.03414	ACG		0.527	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205	
ATP11A	23250	hgsc.bcm.edu	37	13	113536270	113536270	+	3'UTR	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr13:113536270G>T	ENST00000487903.1	+	0	3646				ATP11A_ENST00000375630.2_Missense_Mutation_p.K1156N|ATP11A_ENST00000375645.3_3'UTR			P98196	AT11A_HUMAN	ATPase, class VI, type 11A						phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.K1156N(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CGGCCTGGAAGGAGAAGGTGT	0.647																																					p.K1156N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3468T	13						.						139.0	134.0	136.0					13																	113536270		2203	4300	6503	112584271	SO:0001624	3_prime_UTR_variant	23250	exon29			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.*153G>T	13.37:g.113536270G>T			112584271	NM_032189	Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	9.471	1.095505	0.20471	.	.	ENSG00000068650	ENST00000375630;ENST00000419631	T;T	0.43688	0.94;2.15	3.67	0.119	0.14685	.	6.252670	0.00397	N	0.000046	T	0.22551	0.0544	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18053	-1.0349	10	0.48119	T	0.1	.	1.405	0.02279	0.1719:0.4043:0.2199:0.204	.	1156	E9PEJ6	.	N	1156;148	ENSP00000364781:K1156N;ENSP00000410824:K148N	ENSP00000364781:K1156N	K	+	3	2	ATP11A	112584271	0.972000	0.33761	0.000000	0.03702	0.016000	0.09150	1.515000	0.35845	0.127000	0.18452	0.491000	0.48974	AAG		0.647	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205	
ZMYM5	9205	hgsc.bcm.edu	37	13	20413050	20413050	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr13:20413050G>A	ENST00000337963.4	-	5	926	c.662C>T	c.(661-663)gCc>gTc	p.A221V	ZMYM5_ENST00000382905.4_Missense_Mutation_p.A221V|RP11-61K9.2_ENST00000422148.2_RNA|ZMYM5_ENST00000382907.4_Intron	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	221						nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.A221V(2)		kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ACGAAGTAAGGCCACTGGTGA	0.398																																					p.A221V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C662T	13						.						156.0	160.0	159.0					13																	20413050		2203	4300	6503	19311050	SO:0001583	missense	9205	exon5			AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.662C>T	13.37:g.20413050G>A	ENSP00000337034:p.Ala221Val		19311050	NM_001039650	B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37		.	.	.	.	.	.	.	.	.	.	G	21.7	4.194321	0.78902	.	.	ENSG00000132950	ENST00000337963;ENST00000502168;ENST00000382905	T;T;T	0.25749	2.11;2.11;1.78	4.67	2.9	0.33743	.	0.107597	0.64402	D	0.000007	T	0.47395	0.1443	M	0.78637	2.42	0.48696	D	0.999695	D;D	0.69078	0.997;0.989	D;P	0.66084	0.941;0.836	T	0.47699	-0.9097	10	0.54805	T	0.06	-1.067	11.6632	0.51358	0.0:0.1344:0.7257:0.1399	.	221;221	Q9UJ78;Q9UJ78-1	ZMYM5_HUMAN;.	V	221;211;221	ENSP00000337034:A221V;ENSP00000445779:A211V;ENSP00000372361:A221V	ENSP00000337034:A221V	A	-	2	0	ZMYM5	19311050	1.000000	0.71417	0.993000	0.49108	0.859000	0.49053	4.081000	0.57627	0.666000	0.31087	0.555000	0.69702	GCC		0.398	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242	
SGCG	6445	hgsc.bcm.edu	37	13	23824815	23824815	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr13:23824815C>T	ENST00000218867.3	+	4	468	c.344C>T	c.(343-345)gCg>gTg	p.A115V	SGCG_ENST00000545013.1_Missense_Mutation_p.A115V|SGCG_ENST00000537476.1_Missense_Mutation_p.A115V	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	115					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.A115V(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		ACTGTAAATGCGCGCAACTCA	0.403																																					p.A115V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C344T	13						.						114.0	96.0	102.0					13																	23824815		2203	4300	6503	22722815	SO:0001583	missense	6445	exon4			U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"""Maghrebian myopathy (autosomal recessive)"", ""35kD dystrophin-associated glycoprotein"", ""limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)"", ""gamma sarcoglycan"""	608896	"""sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"""	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.344C>T	13.37:g.23824815C>T	ENSP00000218867:p.Ala115Val		22722815	NM_000231	Q32M32|Q5T9J6	Missense_Mutation	SNP	ENST00000218867.3	37	CCDS9299.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557908	0.45590	.	.	ENSG00000102683	ENST00000218867;ENST00000537476;ENST00000545013	D;D;D	0.94723	-3.5;-3.5;-3.5	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.96821	0.8962	M	0.79693	2.465	0.42842	D	0.994053	D	0.89917	1.0	D	0.74674	0.984	D	0.96006	0.8997	10	0.31617	T	0.26	0.245	14.6421	0.68732	0.0:1.0:0.0:0.0	.	115	Q13326	SGCG_HUMAN	V	115	ENSP00000218867:A115V;ENSP00000444100:A115V;ENSP00000442232:A115V	ENSP00000218867:A115V	A	+	2	0	SGCG	22722815	0.995000	0.38212	0.146000	0.22360	0.010000	0.07245	4.089000	0.57685	2.524000	0.85096	0.655000	0.94253	GCG		0.403	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044151.1	NM_000231	
SPATA13	221178	hgsc.bcm.edu	37	13	24868942	24868942	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr13:24868942G>A	ENST00000382095.4	+	9	1678	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	SPATA13_ENST00000399949.2_Missense_Mutation_p.R346H|SPATA13_ENST00000424834.2_Missense_Mutation_p.R1049H|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.R927H|SPATA13_ENST00000343003.6_Missense_Mutation_p.R368H|SPATA13_ENST00000382108.3_Missense_Mutation_p.R1049H|SPATA13_ENST00000409126.1_Missense_Mutation_p.R284H	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	424	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.R424H(1)		breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		ATCAACGAGCGCAAGCGCAAG	0.498																																					p.R1049H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3146A	13						.						136.0	111.0	120.0					13																	24868942		2203	4300	6503	23766942	SO:0001583	missense	221178	exon10			AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.1271G>A	13.37:g.24868942G>A	ENSP00000371527:p.Arg424His		23766942	NM_001166271	A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	ENST00000382095.4	37	CCDS9305.1	.	.	.	.	.	.	.	.	.	.	G	34	5.372786	0.95923	.	.	ENSG00000182957	ENST00000382108;ENST00000382095;ENST00000434675;ENST00000438694;ENST00000399949;ENST00000409126;ENST00000343003	T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	5.42	5.42	0.78866	Dbl homology (DH) domain (3);	0.000000	0.85682	D	0.000000	D	0.85066	0.5612	M	0.89287	3.02	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	0.999;0.996;0.999;0.998;0.998;0.991	D	0.87457	0.2405	10	0.66056	D	0.02	.	18.1945	0.89817	0.0:0.0:1.0:0.0	.	284;368;308;370;346;424	E9PFR9;Q96N96-3;Q96N96-5;Q96N96-4;Q96N96-2;Q96N96	.;.;.;.;.;SPT13_HUMAN	H	1049;424;322;370;346;284;368	ENSP00000371542:R1049H;ENSP00000371527:R424H;ENSP00000401605:R322H;ENSP00000382830:R346H;ENSP00000386471:R284H;ENSP00000343631:R368H	ENSP00000343631:R368H	R	+	2	0	SPATA13	23766942	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.591000	0.82666	2.558000	0.86282	0.561000	0.74099	CGC		0.498	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023	
RNF17	56163	hgsc.bcm.edu	37	13	25341487	25341487	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr13:25341487A>G	ENST00000255324.5	+	2	260	c.208A>G	c.(208-210)Ata>Gta	p.I70V	RNF17_ENST00000381921.1_Missense_Mutation_p.I70V|RNF17_ENST00000255325.6_Missense_Mutation_p.I70V|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	70					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.I70V(2)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CACCACAATTATATGCCCTGA	0.313																																					p.I70V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A208G	13						.						181.0	163.0	169.0					13																	25341487		2203	4300	6503	24239487	SO:0001583	missense	56163	exon2			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.208A>G	13.37:g.25341487A>G	ENSP00000255324:p.Ile70Val		24239487	NM_001184993	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.941469	0.00479	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000255325;ENST00000255326	D;D;D	0.85411	-1.98;-1.98;-1.98	4.78	-0.345	0.12624	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	1.226570	0.05625	N	0.580689	T	0.68449	0.3002	N	0.12182	0.205	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.55256	-0.8169	10	0.02654	T	1	.	8.5329	0.33346	0.6057:0.0:0.3943:0.0	.	70;70;70	B7Z7S1;Q9BXT8;Q9BXT8-2	.;RNF17_HUMAN;.	V	70	ENSP00000255324:I70V;ENSP00000371346:I70V;ENSP00000255325:I70V	ENSP00000255324:I70V	I	+	1	0	RNF17	24239487	0.018000	0.18449	0.008000	0.14137	0.827000	0.46813	0.098000	0.15189	-0.214000	0.10078	-1.463000	0.01021	ATA		0.313	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	
CCNA1	8900	hgsc.bcm.edu	37	13	37007314	37007314	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr13:37007314G>T	ENST00000255465.4	+	2	517	c.253G>T	c.(253-255)Ggg>Tgg	p.G85W	CCNA1_ENST00000440264.1_Missense_Mutation_p.G41W|CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000418263.1_Missense_Mutation_p.G84W|CCNA1_ENST00000449823.1_Missense_Mutation_p.G41W			P78396	CCNA1_HUMAN	cyclin A1	85					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)		p.G85W(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		GACAGTGCTAGGGCTGCTAAC	0.577																																					p.G41W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G121T	13						.						59.0	60.0	59.0					13																	37007314		2203	4300	6503	35905314	SO:0001583	missense	8900	exon2			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.253G>T	13.37:g.37007314G>T	ENSP00000255465:p.Gly85Trp		35905314	NM_001111047	B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461438	0.63513	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.21932	2.1;2.1;1.98;1.98	4.15	4.15	0.48705	.	0.112992	0.64402	D	0.000013	T	0.40645	0.1125	M	0.64997	1.995	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.27365	-1.0076	10	0.87932	D	0	.	10.1503	0.42788	0.1005:0.0:0.8995:0.0	.	84;85	P78396-2;P78396	.;CCNA1_HUMAN	W	41;41;84;85	ENSP00000400666:G41W;ENSP00000409873:G41W;ENSP00000396479:G84W;ENSP00000255465:G85W	ENSP00000255465:G85W	G	+	1	0	CCNA1	35905314	1.000000	0.71417	0.999000	0.59377	0.704000	0.40688	5.108000	0.64609	2.004000	0.58718	0.455000	0.32223	GGG		0.577	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914	
COG6	57511	hgsc.bcm.edu	37	13	40293402	40293402	+	Silent	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr13:40293402A>G	ENST00000455146.3	+	14	1364	c.1314A>G	c.(1312-1314)ccA>ccG	p.P438P	COG6_ENST00000416691.1_Silent_p.P438P	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	438					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.P438P(1)		NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ATCTTGGACCAAGTTCTGCAC	0.378																																					p.P438P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1314G	13						.						121.0	107.0	112.0					13																	40293402		2203	4300	6503	39191402	SO:0001819	synonymous_variant	57511	exon14			AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"""Components of oligomeric golgi complex"""	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.1314A>G	13.37:g.40293402A>G			39191402	NM_001145079	Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Silent	SNP	ENST00000455146.3	37	CCDS9370.1																																																																																				0.378	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3		
AKAP11	11215	hgsc.bcm.edu	37	13	42877610	42877610	+	Silent	SNP	A	A	G	rs148325309		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr13:42877610A>G	ENST00000025301.2	+	8	4903	c.4728A>G	c.(4726-4728)gcA>gcG	p.A1576A		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1576					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)	p.A1576A(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TCACTTATGCAGAAAAGTTGT	0.433																																					p.A1576A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A4728G	13						.						84.0	78.0	80.0					13																	42877610		2203	4300	6503	41775610	SO:0001819	synonymous_variant	11215	exon8			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.4728A>G	13.37:g.42877610A>G			41775610	NM_016248	O75124|Q9NUK7	Silent	SNP	ENST00000025301.2	37	CCDS9383.1																																																																																				0.433	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248	
ZC3H13	23091	hgsc.bcm.edu	37	13	46543189	46543189	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr13:46543189G>A	ENST00000242848.4	-	14	3838	c.3490C>T	c.(3490-3492)Cga>Tga	p.R1164*	ZC3H13_ENST00000378921.2_Nonsense_Mutation_p.R120*|ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R1164*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1164							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R1164*(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)		TTTTCTACTCGTGTTCTGTGG	0.488																																					p.R1164X	Esophageal Squamous(187;747 2077 11056 31291 44172)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3490T	13						.						187.0	181.0	183.0					13																	46543189		2203	4300	6503	45441190	SO:0001587	stop_gained	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.3490C>T	13.37:g.46543189G>A	ENSP00000242848:p.Arg1164*		45441190	NM_015070	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Nonsense_Mutation	SNP	ENST00000242848.4	37		.	.	.	.	.	.	.	.	.	.	G	43	10.293987	0.99377	.	.	ENSG00000123200	ENST00000242848;ENST00000378921;ENST00000282007	.	.	.	5.52	4.56	0.56223	.	0.000000	0.52532	D	0.000074	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3895	0.49806	0.0:0.0:0.6178:0.3821	.	.	.	.	X	1164;120;1164	.	ENSP00000242848:R1164X	R	-	1	2	ZC3H13	45441190	0.999000	0.42202	0.964000	0.40570	0.505000	0.33919	3.399000	0.52586	2.756000	0.94617	0.655000	0.94253	CGA		0.488	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070	
FNDC3A	22862	hgsc.bcm.edu	37	13	49762768	49762768	+	Splice_Site	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr13:49762768C>T	ENST00000492622.2	+	17	2248	c.1943C>T	c.(1942-1944)gCg>gTg	p.A648V	FNDC3A_ENST00000398316.3_Splice_Site_p.A592V|FNDC3A_ENST00000541916.1_Splice_Site_p.A648V	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	648	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)	p.A648V(1)		endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GGACAGAGTGCGGTAATACTT	0.403																																					p.A648V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1943T	13						.						266.0	249.0	255.0					13																	49762768		2203	4300	6503	48660769	SO:0001630	splice_region_variant	22862	exon17			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.1944+1C>T	13.37:g.49762768C>T			48660769	NM_001079673	B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545971	0.45280	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.57595	0.39;0.39;0.39	5.72	5.72	0.89469	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.517115	0.18995	N	0.125508	T	0.42337	0.1198	L	0.42686	1.345	0.40855	D	0.983784	B;B;B	0.27351	0.015;0.031;0.176	B;B;B	0.25405	0.015;0.009;0.06	T	0.31861	-0.9928	10	0.28530	T	0.3	-2.6601	9.0972	0.36647	0.1469:0.7772:0.0:0.0758	.	592;648;648	Q9Y2H6-2;G5E9X3;Q9Y2H6	.;.;FND3A_HUMAN	V	648;584;648;592	ENSP00000417257:A648V;ENSP00000441831:A648V;ENSP00000381362:A592V	ENSP00000338579:A584V	A	+	2	0	FNDC3A	48660769	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	3.373000	0.52394	2.698000	0.92095	0.591000	0.81541	GCG		0.403	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923	Missense_Mutation
FNDC3A	22862	hgsc.bcm.edu	37	13	49781444	49781444	+	Silent	SNP	C	C	T	rs145742724		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr13:49781444C>T	ENST00000492622.2	+	26	3815	c.3510C>T	c.(3508-3510)gaC>gaT	p.D1170D	FNDC3A_ENST00000398316.3_Silent_p.D1114D|FNDC3A_ENST00000541916.1_Silent_p.D1170D	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1170					fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)	p.D1170D(1)		endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CACTGAGTGACGAGCAGTGTG	0.463																																					p.D1170D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3510T	13						.	C	,	1,4405	2.1+/-5.4	0,1,2202	114.0	97.0	103.0		3510,3342	-0.5	0.9	13	dbSNP_134	103	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	FNDC3A	NM_001079673.1,NM_014923.3	,	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	,	1170/1199,1114/1143	49781444	3,13003	2203	4300	6503	48679445	SO:0001819	synonymous_variant	22862	exon26			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.3510C>T	13.37:g.49781444C>T			48679445	NM_001079673	B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Silent	SNP	ENST00000492622.2	37	CCDS41886.1																																																																																				0.463	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923	
RCBTB1	55213	hgsc.bcm.edu	37	13	50134090	50134090	+	Silent	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr13:50134090G>T	ENST00000378302.2	-	5	668	c.408C>A	c.(406-408)ggC>ggA	p.G136G	RCBTB1_ENST00000546015.1_Silent_p.G136G|RCBTB1_ENST00000258646.3_Silent_p.G136G	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	136					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G136G(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		AATGATGTGAGCCACAAGCTA	0.423																																					p.G136G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C408A	13						.						183.0	178.0	180.0					13																	50134090		2203	4300	6503	49032091	SO:0001819	synonymous_variant	55213	exon5			AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"""BTB/POZ domain containing"""	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.408C>A	13.37:g.50134090G>T			49032091	NM_018191	Q8IY29|Q969U9	Silent	SNP	ENST00000378302.2	37	CCDS9418.1																																																																																				0.423	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	NM_018191	
DIS3	22894	hgsc.bcm.edu	37	13	73349358	73349358	+	Silent	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr13:73349358T>C	ENST00000377767.4	-	6	1078	c.978A>G	c.(976-978)acA>acG	p.T326T	DIS3_ENST00000545453.1_Silent_p.T164T|DIS3_ENST00000377780.4_Silent_p.T296T	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	326			T -> R (in dbSNP:rs7332388). {ECO:0000269|PubMed:10231032, ECO:0000269|PubMed:15489334}.		CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)	p.T326T(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CCATTCGTTCTGTCTCTTCTT	0.378										Multiple Myeloma(4;0.011)																											p.T296T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A888G	13						.						103.0	107.0	105.0					13																	73349358		2203	4300	6503	72247359	SO:0001819	synonymous_variant	22894	exon6			AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.978A>G	13.37:g.73349358T>C			72247359	NM_001128226	A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Silent	SNP	ENST00000377767.4	37	CCDS9447.1																																																																																				0.378	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953	
DCT	1638	hgsc.bcm.edu	37	13	95117941	95117941	+	Missense_Mutation	SNP	G	G	A	rs200220737	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr13:95117941G>A	ENST00000377028.5	-	4	1222	c.809C>T	c.(808-810)cCg>cTg	p.P270L	DCT_ENST00000446125.1_Missense_Mutation_p.P270L|AL139318.1_ENST00000390768.1_RNA|DCT_ENST00000490854.1_5'UTR	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	270					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)	p.P270L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AATCAGAGTCGGATCGTCTGG	0.493													G|||	3	0.000599042	0.0	0.0	5008	,	,		12133	0.0		0.0	False		,,,				2504	0.0031				p.P270L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C809T	13						.						128.0	106.0	113.0					13																	95117941		2203	4300	6503	93915942	SO:0001583	missense	1638	exon4			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.809C>T	13.37:g.95117941G>A	ENSP00000366227:p.Pro270Leu		93915942	NM_001922	Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091358	0.76756	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.98889	-5.21;-5.21	5.95	5.95	0.96441	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.048043	0.85682	D	0.000000	D	0.97757	0.9264	M	0.63208	1.945	0.80722	D	1	P;B	0.35307	0.494;0.443	B;B	0.35114	0.196;0.103	D	0.97277	0.9915	10	0.49607	T	0.09	-15.3201	20.3931	0.98965	0.0:0.0:1.0:0.0	.	270;270	Q09GT4;P40126	.;TYRP2_HUMAN	L	270	ENSP00000366227:P270L;ENSP00000392762:P270L	ENSP00000366227:P270L	P	-	2	0	DCT	93915942	1.000000	0.71417	0.962000	0.40283	0.738000	0.42128	6.694000	0.74587	2.824000	0.97209	0.655000	0.94253	CCG		0.493	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3		
ABCC4	10257	hgsc.bcm.edu	37	13	95886992	95886992	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr13:95886992A>G	ENST00000376887.4	-	4	517	c.403T>C	c.(403-405)Tac>Cac	p.Y135H	ABCC4_ENST00000412704.1_Missense_Mutation_p.Y135H|ABCC4_ENST00000536256.1_Intron|ABCC4_ENST00000431522.1_Missense_Mutation_p.Y135H|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	135	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.Y135H(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	GCATAGGCGTACGCTGTGTTC	0.393																																					p.Y135H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T403C	13						.						82.0	71.0	75.0					13																	95886992		2203	4300	6503	94684993	SO:0001583	missense	10257	exon4			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.403T>C	13.37:g.95886992A>G	ENSP00000366084:p.Tyr135His		94684993	NM_001105515	A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	A	9.128	1.010584	0.19277	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000431522	D;D;D	0.90900	-2.75;-2.75;-2.75	5.27	4.1	0.47936	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.333305	0.32624	N	0.005842	D	0.94545	0.8243	M	0.90595	3.13	0.58432	D	0.999998	P;B;P;B	0.41232	0.743;0.086;0.743;0.245	P;B;P;B	0.53224	0.721;0.2;0.721;0.41	D	0.94090	0.7352	10	0.66056	D	0.02	.	10.9779	0.47478	0.9269:0.0:0.073:0.0	.	135;135;135;135	A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;MRP4_HUMAN	H	135	ENSP00000388657:Y135H;ENSP00000366084:Y135H;ENSP00000398562:Y135H	ENSP00000366084:Y135H	Y	-	1	0	ABCC4	94684993	0.993000	0.37304	0.007000	0.13788	0.038000	0.13279	4.615000	0.61190	0.851000	0.35264	0.533000	0.62120	TAC		0.393	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845	
IPO5	3843	hgsc.bcm.edu	37	13	98670892	98670892	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr13:98670892G>T	ENST00000490680.1	+	23	2835	c.2770G>T	c.(2770-2772)Gca>Tca	p.A924S	IPO5_ENST00000261574.5_Missense_Mutation_p.A942S|IPO5_ENST00000539640.1_Missense_Mutation_p.A799S			O00410	IPO5_HUMAN	importin 5	924					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)	p.A942S(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						AGTCAGGCAAGCAGCTGCATA	0.433																																					p.A942S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2824T	13						.						185.0	140.0	155.0					13																	98670892		2203	4300	6503	97468893	SO:0001583	missense	3843	exon26			U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.2770G>T	13.37:g.98670892G>T	ENSP00000418393:p.Ala924Ser		97468893	NM_002271	B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.436374|5.436374	0.96168|0.96168	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640|ENST00000469360	T;T;T;T|.	0.70282|.	-0.47;-0.47;-0.47;-0.47|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84442|0.84442	0.5473|0.5473	M|M	0.87038|0.87038	2.855|2.855	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.63877|.	0.919|.	D|D	0.85285|0.85285	0.1064|0.1064	10|5	0.54805|.	T|.	0.06|.	-41.4045|-41.4045	20.1142|20.1142	0.97922|0.97922	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	942|.	O00410-3|.	.|.	S|N	942;924;924;799|925	ENSP00000261574:A942S;ENSP00000350219:A924S;ENSP00000418393:A924S;ENSP00000445126:A799S|.	ENSP00000261574:A942S|.	A|K	+|+	1|3	0|2	IPO5|IPO5	97468893|97468893	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.985000|0.985000	0.73830|0.73830	9.581000|9.581000	0.98210|0.98210	2.765000|2.765000	0.95021|0.95021	0.650000|0.650000	0.86243|0.86243	GCA|AAG		0.433	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271	
FARP1	10160	hgsc.bcm.edu	37	13	99038038	99038038	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr13:99038038C>T	ENST00000319562.6	+	8	994	c.729C>T	c.(727-729)gcC>gcT	p.A243A	FARP1_ENST00000595437.1_Silent_p.A243A|FARP1_ENST00000376586.2_Silent_p.A243A	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	243	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A243A(2)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCAATCTGGCCGTTGCCAACA	0.537																																					p.A243A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C729T	13						.						107.0	93.0	98.0					13																	99038038		2203	4300	6503	97836039	SO:0001819	synonymous_variant	10160	exon8			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.729C>T	13.37:g.99038038C>T			97836039	NM_005766	Q5JVI9|Q6IQ29	Silent	SNP	ENST00000319562.6	37	CCDS9487.1																																																																																				0.537	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766	
CUL4A	8451	hgsc.bcm.edu	37	13	113893823	113893823	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr13:113893823C>T	ENST00000375440.4	+	10	1077	c.993C>T	c.(991-993)ggC>ggT	p.G331G	CUL4A_ENST00000375441.3_Silent_p.G231G|CUL4A_ENST00000451881.1_Silent_p.G231G|CUL4A_ENST00000326335.4_Silent_p.G231G	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	331					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)		p.G231G(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			GGGTGAGGGGCGGGCAGCAGG	0.637																																					p.G331G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C993T	13						.						64.0	62.0	63.0					13																	113893823		2203	4300	6503	112941824	SO:0001819	synonymous_variant	8451	exon10			U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.993C>T	13.37:g.113893823C>T			112941824	NM_001008895	A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Silent	SNP	ENST00000375440.4	37	CCDS41908.1																																																																																				0.637	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589	
DNMBP	23268	hgsc.bcm.edu	37	10	101715377	101715377	+	Silent	SNP	C	C	T	rs139408405	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:101715377C>T	ENST00000324109.4	-	4	1945	c.1854G>A	c.(1852-1854)ccG>ccA	p.P618P	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Silent_p.P618P	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	618	Pro-rich.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P618P(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AAGTGGATACCGGAGTACAGG	0.582													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17754	0.0		0.001	False		,,,				2504	0.0				p.P618P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1854A	10						.			3,4403	6.2+/-15.9	0,3,2200	56.0	52.0	53.0		1854	-1.1	0.0	10	dbSNP_134	53	0,8600		0,0,4300	no	coding-synonymous	DNMBP	NM_015221.2		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		618/1578	101715377	3,13003	2203	4300	6503	101705367	SO:0001819	synonymous_variant	23268	exon4			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.1854G>A	10.37:g.101715377C>T			101705367	NM_015221	Q8IVY3|Q9Y2L3	Silent	SNP	ENST00000324109.4	37	CCDS7485.1																																																																																				0.582	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221	
GBF1	8729	hgsc.bcm.edu	37	10	104140333	104140333	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:104140333C>T	ENST00000369983.3	+	38	5320	c.5060C>T	c.(5059-5061)gCa>gTa	p.A1687V		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1687					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.A1687V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TTCCACAGTGCAGATGCACGG	0.562																																					p.A1684V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5051T	10						.						229.0	248.0	242.0					10																	104140333		2203	4300	6503	104130323	SO:0001583	missense	8729	exon38			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.5060C>T	10.37:g.104140333C>T	ENSP00000359000:p.Ala1687Val		104130323	NM_001199378	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.235575	0.58886	.	.	ENSG00000107862	ENST00000369983	T	0.09817	2.94	5.91	5.91	0.95273	.	0.107780	0.64402	D	0.000006	T	0.15478	0.0373	L	0.57536	1.79	0.52099	D	0.999949	P;P;B	0.36577	0.558;0.558;0.002	B;B;B	0.33521	0.165;0.1;0.002	T	0.01269	-1.1400	10	0.39692	T	0.17	-7.0948	20.2985	0.98592	0.0:1.0:0.0:0.0	.	1683;1683;1687	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	V	1687	ENSP00000359000:A1687V	ENSP00000359000:A1687V	A	+	2	0	GBF1	104130323	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.960000	0.70348	2.793000	0.96121	0.655000	0.94253	GCA		0.562	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1		
PSD	5662	hgsc.bcm.edu	37	10	104163627	104163627	+	Missense_Mutation	SNP	C	C	T	rs140739855		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:104163627C>T	ENST00000020673.5	-	16	3342	c.2816G>A	c.(2815-2817)cGg>cAg	p.R939Q	PSD_ENST00000406432.1_Missense_Mutation_p.R939Q	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	939					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)	p.R724Q(1)|p.R939Q(1)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CTCCTTCTGCCGCTGCTCTTC	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		15812	0.0		0.001	False		,,,				2504	0.0				p.R939Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2816A	10						.	C	GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	54.0	44.0	47.0		2816	4.2	1.0	10	dbSNP_134	47	13,8583	7.7+/-29.5	0,13,4285	yes	missense	PSD	NM_002779.3	43	0,16,6485	TT,TC,CC		0.1512,0.0681,0.1231	probably-damaging	939/1025	104163627	16,12986	2203	4298	6501	104153617	SO:0001583	missense	5662	exon16			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.2816G>A	10.37:g.104163627C>T	ENSP00000020673:p.Arg939Gln		104153617	NM_002779	B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	CCDS31272.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	25.2	4.612690	0.87258	6.81E-4	0.001512	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.20332	2.08;2.08	5.12	4.18	0.49190	.	0.234789	0.34802	N	0.003664	T	0.37237	0.0996	M	0.66297	2.02	0.36404	D	0.863283	D;D;D	0.76494	0.986;0.999;0.998	P;P;D	0.67548	0.618;0.895;0.952	T	0.46843	-0.9162	10	0.72032	D	0.01	.	5.4447	0.16529	0.0:0.6218:0.0:0.3782	.	939;842;560	A5PKW4;Q86YI3;A5PKW4-2	PSD1_HUMAN;.;.	Q	939;842;939	ENSP00000020673:R939Q;ENSP00000384830:R939Q	ENSP00000020673:R939Q	R	-	2	0	PSD	104153617	0.997000	0.39634	1.000000	0.80357	0.990000	0.78478	1.110000	0.31147	1.294000	0.44707	0.462000	0.41574	CGG		0.637	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2		
TAF5	6877	hgsc.bcm.edu	37	10	105139718	105139718	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:105139718G>A	ENST00000369839.3	+	5	1378	c.1355G>A	c.(1354-1356)cGc>cAc	p.R452H	TAF5_ENST00000351396.4_Missense_Mutation_p.R452H	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	452					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|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)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R452H(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		AAACGAGTGCGCCTTGGGCCG	0.408																																					p.R452H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1355A	10						.						130.0	140.0	136.0					10																	105139718		2203	4300	6503	105129708	SO:0001583	missense	6877	exon5			X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.1355G>A	10.37:g.105139718G>A	ENSP00000358854:p.Arg452His		105129708	NM_006951	A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	ENST00000369839.3	37	CCDS7547.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139777	0.77775	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	T;T	0.60171	0.49;0.21	6.03	6.03	0.97812	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.49474	0.1559	L	0.44542	1.39	0.80722	D	1	P;B	0.37141	0.584;0.449	B;B	0.25291	0.059;0.027	T	0.47222	-0.9134	10	0.35671	T	0.21	-9.019	20.5666	0.99351	0.0:0.0:1.0:0.0	.	452;452	Q15542-2;Q15542	.;TAF5_HUMAN	H	452	ENSP00000358854:R452H;ENSP00000311024:R452H	ENSP00000311024:R452H	R	+	2	0	TAF5	105129708	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.854000	0.98071	0.655000	0.94253	CGC		0.408	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1		
CALHM1	255022	hgsc.bcm.edu	37	10	105218277	105218277	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:105218277G>A	ENST00000329905.5	-	1	368	c.232C>T	c.(232-234)Ctg>Ttg	p.L78L	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	78					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)	p.L78L(1)		large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						TCTTCGGCCAGCATGGACACG	0.667																																					p.L78L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C232T	10						.						32.0	37.0	35.0					10																	105218277		2203	4299	6502	105208267	SO:0001819	synonymous_variant	255022	exon1			BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"""family with sequence similarity 26, member C"""	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.232C>T	10.37:g.105218277G>A			105208267	NM_001001412	Q5W091	Silent	SNP	ENST00000329905.5	37	CCDS7550.1																																																																																				0.667	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	NM_001001412	
CFAP58	159686	hgsc.bcm.edu	37	10	106207499	106207499	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:106207499G>A	ENST00000369704.3	+	16	2434	c.2300G>A	c.(2299-2301)cGc>cAc	p.R767H		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		767						extracellular space (GO:0005615)		p.R767H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GTCTTGGCCCGCCAGCCTGGA	0.532																																					p.R767H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2300A	10						.						56.0	55.0	55.0					10																	106207499		2203	4300	6503	106197489	SO:0001583	missense	159686	exon16																														ENST00000369704.3:c.2300G>A	10.37:g.106207499G>A	ENSP00000358718:p.Arg767His		106197489	NM_001008723	D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168941	0.94768	.	.	ENSG00000120051	ENST00000369704	T	0.51574	0.7	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.68906	0.3052	M	0.81497	2.545	0.80722	D	1	D	0.69078	0.997	P	0.61592	0.891	T	0.71652	-0.4528	10	0.48119	T	0.1	-14.632	18.8541	0.92244	0.0:0.0:1.0:0.0	.	767	Q5T655	CC147_HUMAN	H	767	ENSP00000358718:R767H	ENSP00000358718:R767H	R	+	2	0	CCDC147	106197489	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.222000	0.89777	2.427000	0.82271	0.655000	0.94253	CGC		0.532	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1		
ACSL5	51703	hgsc.bcm.edu	37	10	114186050	114186050	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:114186050A>C	ENST00000393081.1	+	19	2079	c.1772A>C	c.(1771-1773)gAt>gCt	p.D591A	ACSL5_ENST00000354273.4_Missense_Mutation_p.D591A|ACSL5_ENST00000356116.1_Missense_Mutation_p.D647A|ACSL5_ENST00000433418.1_Missense_Mutation_p.D591A|ACSL5_ENST00000354655.4_Missense_Mutation_p.D591A|ACSL5_ENST00000369410.3_Missense_Mutation_p.D373A	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	591					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.D647A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CCTGACACAGATGTACTTCCC	0.473																																					p.D647A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1940C	10						.						220.0	181.0	194.0					10																	114186050		2203	4300	6503	114176040	SO:0001583	missense	51703	exon19			AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"""Acyl-CoA synthetase family"""	16526	protein-coding gene	gene with protein product	"""FACL5 for fatty acid coenzyme A ligase 5"", ""long-chain acyl-CoA synthetase 5"", ""long-chain fatty acid coenzyme A ligase 5"", ""fatty-acid-Coenzyme A ligase, long-chain 5"""	605677	"""fatty-acid-Coenzyme A ligase, long-chain 5"""	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.1772A>C	10.37:g.114186050A>C	ENSP00000376796:p.Asp591Ala		114176040	NM_016234	A6GV77|D3DRB3|Q6UX44|Q9UIU4	Missense_Mutation	SNP	ENST00000393081.1	37	CCDS7573.1	.	.	.	.	.	.	.	.	.	.	A	12.48	1.950217	0.34377	.	.	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273;ENST00000369410	T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76	5.69	5.69	0.88448	.	0.389709	0.30830	N	0.008790	T	0.18383	0.0441	M	0.72118	2.19	0.53005	D	0.999966	B;B;P;B	0.44429	0.435;0.265;0.835;0.307	B;B;B;B	0.42030	0.211;0.116;0.373;0.15	T	0.00950	-1.1503	10	0.62326	D	0.03	-2.4708	15.9451	0.79787	1.0:0.0:0.0:0.0	.	373;591;647;591	B4DX30;A6GV77;Q9ULC5-3;Q9ULC5	.;.;.;ACSL5_HUMAN	A	591;591;647;591;591;373	ENSP00000346680:D591A;ENSP00000376796:D591A;ENSP00000348429:D647A;ENSP00000403647:D591A;ENSP00000346223:D591A;ENSP00000358418:D373A	ENSP00000346223:D591A	D	+	2	0	ACSL5	114176040	1.000000	0.71417	0.574000	0.28523	0.002000	0.02628	8.817000	0.91985	2.177000	0.69029	0.533000	0.62120	GAT		0.473	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050386.1	NM_016234	
INPP5F	22876	hgsc.bcm.edu	37	10	121565943	121565943	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:121565943G>A	ENST00000361976.2	+	12	1557	c.1391G>A	c.(1390-1392)cGc>cAc	p.R464H		NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	773	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.R464H(1)		breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TGCCTGGATCGCACCAACGTG	0.393																																					p.R464H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1391A	10						.						101.0	99.0	100.0					10																	121565943		2203	4300	6503	121555933	SO:0001583	missense	22876	exon12			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.1391G>A	10.37:g.121565943G>A	ENSP00000354519:p.Arg464His		121555933	NM_014937	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	G	35	5.596922	0.96602	.	.	ENSG00000198825	ENST00000361976	T	0.41065	1.01	5.5	5.5	0.81552	Synaptojanin, N-terminal (1);	0.054223	0.64402	D	0.000001	T	0.79149	0.4397	H	0.98370	4.215	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	D	0.87581	0.2484	10	0.87932	D	0	-12.8834	19.425	0.94737	0.0:0.0:1.0:0.0	.	464	Q9Y2H2	SAC2_HUMAN	H	464	ENSP00000354519:R464H	ENSP00000354519:R464H	R	+	2	0	INPP5F	121555933	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.682000	0.98655	2.584000	0.87258	0.563000	0.77884	CGC		0.393	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937	
DHTKD1	55526	hgsc.bcm.edu	37	10	12142201	12142201	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:12142201G>A	ENST00000263035.4	+	9	1758	c.1696G>A	c.(1696-1698)Gga>Aga	p.G566R		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	566					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.G566R(1)|p.G566*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GATGATGGACGGAATCAAGCT	0.363																																					p.G566R												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|lung(1)	c.G1696A	10						.						136.0	151.0	146.0					10																	12142201		2203	4300	6503	12182207	SO:0001583	missense	55526	exon9			BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.1696G>A	10.37:g.12142201G>A	ENSP00000263035:p.Gly566Arg		12182207	NM_018706	Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	CCDS7087.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.06|19.06	3.754101|3.754101	0.69648|0.69648	.|.	.|.	ENSG00000181192|ENSG00000181192	ENST00000263035|ENST00000448829	D|.	0.91792|.	-2.91|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.051551|.	0.85682|.	D|.	0.000000|.	D|D	0.82430|0.82430	0.5035|0.5035	M|M	0.83774|0.83774	2.66|2.66	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.63793|.	0.918|.	D|D	0.83496|0.83496	0.0072|0.0072	10|5	0.72032|.	D|.	0.01|.	-9.506|-9.506	19.1825|19.1825	0.93629|0.93629	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	566|.	Q96HY7|.	DHTK1_HUMAN|.	R|Q	566|117	ENSP00000263035:G566R|.	ENSP00000263035:G566R|.	G|R	+|+	1|2	0|0	DHTKD1|DHTKD1	12182207|12182207	1.000000|1.000000	0.71417|0.71417	0.884000|0.884000	0.34674|0.34674	0.021000|0.021000	0.10359|0.10359	8.847000|8.847000	0.92166|0.92166	2.531000|2.531000	0.85337|0.85337	0.484000|0.484000	0.47621|0.47621	GGA|CGG		0.363	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706	
NUDT5	11164	hgsc.bcm.edu	37	10	12212732	12212732	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:12212732C>T	ENST00000491614.1	-	9	929	c.534G>A	c.(532-534)ctG>ctA	p.L178L	NUDT5_ENST00000537776.1_Silent_p.L178L|NUDT5_ENST00000378937.3_Silent_p.L191L|NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378940.3_Silent_p.L178L|NUDT5_ENST00000378927.3_3'UTR			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	178	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				D-ribose catabolic process (GO:0019303)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|ribonucleoside diphosphate catabolic process (GO:0009191)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)|magnesium ion binding (GO:0000287)|nucleoside-diphosphatase activity (GO:0017110)|snoRNA binding (GO:0030515)	p.L178L(1)		breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				GTCTCTGCAGCAGGTCATTCT	0.453																																					p.L178L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G534A	10						.						117.0	114.0	115.0					10																	12212732		2203	4300	6503	12252738	SO:0001819	synonymous_variant	11164	exon9			AF155832	CCDS7089.1	10p14	2008-05-14			ENSG00000165609	ENSG00000165609		"""Nudix motif containing"""	8052	protein-coding gene	gene with protein product		609230				10373642	Standard	NM_014142		Approved	hYSAH1, YSA1H	uc001ilj.3	Q9UKK9	OTTHUMG00000017682	ENST00000491614.1:c.534G>A	10.37:g.12212732C>T			12252738	NM_014142	A8K516|Q6IAG0|Q9UH49	Silent	SNP	ENST00000491614.1	37	CCDS7089.1																																																																																				0.453	NUDT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046811.1		
SEC23IP	11196	hgsc.bcm.edu	37	10	121678993	121678993	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:121678993A>G	ENST00000369075.3	+	11	1982	c.1910A>G	c.(1909-1911)tAt>tGt	p.Y637C	SEC23IP_ENST00000543134.1_Missense_Mutation_p.Y426C	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	637					acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.Y637C(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GATGAGTCGTATGACCTTGTT	0.348																																					p.Y637C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1910G	10						.						101.0	107.0	105.0					10																	121678993		2203	4300	6503	121668983	SO:0001583	missense	11196	exon11			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.1910A>G	10.37:g.121678993A>G	ENSP00000358071:p.Tyr637Cys		121668983	NM_007190	D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	A	3.574	-0.086980	0.07097	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.45668	0.89;0.89	5.31	4.41	0.53225	.	0.386732	0.31922	N	0.006844	T	0.17916	0.0430	N	0.01352	-0.895	0.23994	N	0.996238	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17592	-1.0364	10	0.45353	T	0.12	-7.8806	12.9203	0.58228	0.0763:0.0:0.9237:0.0	.	426;637	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	C	637;426	ENSP00000358071:Y637C;ENSP00000438773:Y426C	ENSP00000358071:Y637C	Y	+	2	0	SEC23IP	121668983	0.982000	0.34865	0.965000	0.40720	0.054000	0.15201	1.295000	0.33377	1.381000	0.46364	-0.220000	0.12472	TAT		0.348	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1		
CPXM2	119587	hgsc.bcm.edu	37	10	125528097	125528097	+	Missense_Mutation	SNP	C	C	T	rs139425659		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:125528097C>T	ENST00000241305.3	-	9	1398	c.1244G>A	c.(1243-1245)cGg>cAg	p.R415Q	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	415					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R415Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GACGTGAATCCGCGTCTCCTC	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		12209	0.0		0.0	False		,,,				2504	0.0				p.R415Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1244A	10						.	C	GLN/ARG	0,4406		0,0,2203	98.0	82.0	88.0		1244	4.1	0.8	10	dbSNP_134	88	4,8596	3.7+/-12.6	0,4,4296	yes	missense	CPXM2	NM_198148.2	43	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	415/757	125528097	4,13002	2203	4300	6503	125518087	SO:0001583	missense	119587	exon9			AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1244G>A	10.37:g.125528097C>T	ENSP00000241305:p.Arg415Gln		125518087	NM_198148	B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	CCDS7637.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	32	5.156176	0.94686	0.0	4.65E-4	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	T	0.11495	2.77	4.96	4.06	0.47325	Peptidase M14, carboxypeptidase A (1);	0.000000	0.85682	D	0.000000	T	0.42471	0.1204	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57447	-0.7810	10	0.87932	D	0	-12.4513	13.3956	0.60851	0.0:0.9249:0.0:0.0751	.	415	Q8N436	CPXM2_HUMAN	Q	415;248;415	ENSP00000241305:R415Q	ENSP00000241305:R415Q	R	-	2	0	CPXM2	125518087	0.993000	0.37304	0.823000	0.32752	0.977000	0.68977	7.537000	0.82033	1.316000	0.45131	-0.136000	0.14681	CGG		0.637	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148	
PFKP	5214	hgsc.bcm.edu	37	10	3151577	3151577	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:3151577G>A	ENST00000381125.4	+	10	1070	c.994G>A	c.(994-996)Gcc>Acc	p.A332T	PFKP_ENST00000381075.2_Missense_Mutation_p.A324T	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	332	N-terminal catalytic PFK domain 1.				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.A324T(1)|p.A332T(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)		GGCAGTCATCGCCTTGCTAGA	0.647																																					p.A332T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G994A	10						.						65.0	50.0	55.0					10																	3151577		2203	4300	6503	3141577	SO:0001583	missense	5214	exon10			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.994G>A	10.37:g.3151577G>A	ENSP00000370517:p.Ala332Thr		3141577	NM_002627	B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696707	0.88830	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000415005	D;D;D	0.81499	-1.5;-1.5;-1.5	5.34	5.34	0.76211	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.92218	0.7532	M	0.91818	3.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.998;1.0	D	0.93486	0.6831	10	0.87932	D	0	.	19.4155	0.94694	0.0:0.0:1.0:0.0	.	324;324;332	B3KS15;Q5VSR7;Q01813	.;.;K6PP_HUMAN	T	332;321;324;116	ENSP00000370517:A332T;ENSP00000370465:A324T;ENSP00000408858:A116T	ENSP00000370465:A324T	A	+	1	0	PFKP	3141577	1.000000	0.71417	0.974000	0.42286	0.024000	0.10985	9.515000	0.98015	2.681000	0.91329	0.561000	0.74099	GCC		0.647	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627	
ITIH5	80760	hgsc.bcm.edu	37	10	7608174	7608174	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:7608174C>T	ENST00000256861.6	-	13	2424	c.2346G>A	c.(2344-2346)ggG>ggA	p.G782G	ITIH5_ENST00000298441.6_Silent_p.G568G|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000446830.2_Silent_p.G564G	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	782					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G782G(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GCCCCCAGCTCCCCACCACCA	0.567																																					p.G782G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2346A	10						.						93.0	71.0	78.0					10																	7608174		2203	4300	6503	7648180	SO:0001819	synonymous_variant	80760	exon13					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.2346G>A	10.37:g.7608174C>T			7648180	NM_030569	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	ENST00000256861.6	37																																																																																					0.567	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569	
PTER	9317	hgsc.bcm.edu	37	10	16526453	16526453	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:16526453C>A	ENST00000378000.1	+	3	316	c.70C>A	c.(70-72)Ctg>Atg	p.L24M	PTER_ENST00000298942.3_Missense_Mutation_p.L24M|PTER_ENST00000423462.2_Missense_Mutation_p.L24M|PTER_ENST00000535784.2_Missense_Mutation_p.L24M	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	24					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)	p.L24M(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						GGGCCGTACCCTGACCCATGA	0.473																																					p.L24M	Ovarian(2;46 150 15648 38137 47908)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C70A	10						.						98.0	91.0	93.0					10																	16526453		2203	4300	6503	16566459	SO:0001583	missense	9317	exon3			BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.70C>A	10.37:g.16526453C>A	ENSP00000367239:p.Leu24Met		16566459	NM_001001484	B0YJ77|B3KTF5|D3DRU0|Q9BY46	Missense_Mutation	SNP	ENST00000378000.1	37	CCDS7111.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234247	0.58886	.	.	ENSG00000165983	ENST00000343656;ENST00000535784;ENST00000423462;ENST00000378000;ENST00000298942	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	6.08	2.84	0.33178	.	0.109403	0.64402	D	0.000010	T	0.64204	0.2577	L	0.54965	1.715	0.53688	D	0.999974	P;P	0.45396	0.857;0.73	P;P	0.51385	0.668;0.612	T	0.64474	-0.6399	10	0.56958	D	0.05	-13.8404	9.3112	0.37905	0.0:0.6394:0.0:0.3606	.	24;24	Q96BW5-2;Q96BW5	.;PTER_HUMAN	M	24	ENSP00000439485:L24M;ENSP00000389535:L24M;ENSP00000367239:L24M;ENSP00000298942:L24M	ENSP00000298942:L24M	L	+	1	2	PTER	16566459	0.001000	0.12720	0.993000	0.49108	0.987000	0.75469	-0.044000	0.12023	0.918000	0.36919	0.655000	0.94253	CTG		0.473	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047001.2	NM_030664	
NEBL	10529	hgsc.bcm.edu	37	10	21178852	21178852	+	Missense_Mutation	SNP	C	C	G	rs41277374	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:21178852C>G	ENST00000377122.4	-	3	576	c.180G>C	c.(178-180)aaG>aaC	p.K60N	NEBL_ENST00000377119.1_Missense_Mutation_p.K60N|NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	60				RYKEEFKK -> VIKKSLKS (in Ref. 2; AAF24858). {ECO:0000305}.	cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.K60N(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TATCCTTGGACTTTTTAAACT	0.299													C|||	7	0.00139776	0.0	0.0014	5008	,	,		17262	0.0		0.005	False		,,,				2504	0.001				p.K60N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G180C	10						.	C	,ASN/LYS,	6,4398	11.4+/-27.6	0,6,2196	91.0	93.0	92.0		,180,	1.9	1.0	10	dbSNP_127	92	61,8533	37.4+/-92.8	0,61,4236	yes	intron,missense,intron	NEBL	NM_001173484.1,NM_006393.2,NM_213569.2	,94,	0,67,6432	GG,GC,CC		0.7098,0.1362,0.5155	,probably-damaging,	,60/1015,	21178852	67,12931	2202	4297	6499	21218858	SO:0001583	missense	10529	exon3			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.180G>C	10.37:g.21178852C>G	ENSP00000366326:p.Lys60Asn		21218858	NM_006393	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	CCDS7134.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	C	15.69	2.907072	0.52333	0.001362	0.007098	ENSG00000078114	ENST00000377122;ENST00000377119;ENST00000434381	T;T;T	0.59638	0.25;0.25;0.25	5.93	1.9	0.25705	.	0.103713	0.64402	D	0.000005	T	0.64338	0.2589	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66348	-0.5946	10	0.62326	D	0.03	.	8.7397	0.34550	0.0:0.4559:0.0:0.5441	rs41277374	60	O76041	NEBL_HUMAN	N	60;60;44	ENSP00000366326:K60N;ENSP00000366323:K60N;ENSP00000396512:K44N	ENSP00000366323:K60N	K	-	3	2	NEBL	21218858	0.989000	0.36119	0.998000	0.56505	0.555000	0.35460	0.052000	0.14163	0.087000	0.17167	-0.140000	0.14226	AAG		0.299	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393	
GAD2	2572	hgsc.bcm.edu	37	10	26518595	26518595	+	Silent	SNP	C	C	T	rs149136572	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:26518595C>T	ENST00000376261.3	+	7	1232	c.729C>T	c.(727-729)ggC>ggT	p.G243G	GAD2_ENST00000259271.3_Silent_p.G243G	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	243					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.G243G(3)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTTTAGGTGGCGCCATATCTA	0.443													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		21933	0.0		0.0	False		,,,				2504	0.0				p.G243G												.	.	3	Substitution - coding silent(3)	large_intestine(2)|lung(1)	c.C729T	10						.	C	,	2,4404	4.2+/-10.8	0,2,2201	197.0	161.0	173.0		729,729	-0.5	1.0	10	dbSNP_134	173	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GAD2	NM_000818.2,NM_001134366.1	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	243/586,243/586	26518595	2,13004	2203	4300	6503	26558601	SO:0001819	synonymous_variant	2572	exon7			AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.729C>T	10.37:g.26518595C>T			26558601	NM_001134366	Q9UD87	Silent	SNP	ENST00000376261.3	37	CCDS7149.1																																																																																				0.443	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818	
ARMC4	55130	hgsc.bcm.edu	37	10	28224033	28224033	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:28224033G>A	ENST00000305242.5	-	16	2493	c.2401C>T	c.(2401-2403)Cca>Tca	p.P801S	ARMC4_ENST00000545014.1_Missense_Mutation_p.P326S|ARMC4_ENST00000537576.1_Missense_Mutation_p.P493S	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	801					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.P801S(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTCACAAGTGGTTGAATGCCA	0.448																																					p.P801S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2401T	10						.						177.0	168.0	171.0					10																	28224033		2203	4300	6503	28264039	SO:0001583	missense	55130	exon16			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2401C>T	10.37:g.28224033G>A	ENSP00000306410:p.Pro801Ser		28264039	NM_018076	A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	G	9.909	1.209000	0.22205	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	T;T;T	0.38240	1.15;1.15;1.15	5.78	4.87	0.63330	Armadillo-like helical (1);Armadillo-type fold (1);	0.259707	0.45361	D	0.000365	T	0.25901	0.0631	L	0.28274	0.84	0.80722	D	1	B;B	0.16166	0.008;0.016	B;B	0.24006	0.05;0.05	T	0.05869	-1.0859	10	0.22706	T	0.39	-13.5454	11.2672	0.49116	0.0688:0.1285:0.8027:0.0	.	326;801	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	S	493;801;326	ENSP00000443208:P493S;ENSP00000306410:P801S;ENSP00000441076:P326S	ENSP00000306410:P801S	P	-	1	0	ARMC4	28264039	1.000000	0.71417	0.154000	0.22540	0.992000	0.81027	3.292000	0.51772	1.408000	0.46895	0.655000	0.94253	CCA		0.448	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076	
WAC	51322	hgsc.bcm.edu	37	10	28897160	28897160	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:28897160C>A	ENST00000354911.4	+	8	1126	c.965C>A	c.(964-966)cCt>cAt	p.P322H	WAC_ENST00000375646.1_Missense_Mutation_p.P174H|WAC_ENST00000428935.1_Missense_Mutation_p.P277H|WAC_ENST00000347934.4_Missense_Mutation_p.P219H|WAC_ENST00000375664.4_Missense_Mutation_p.P277H	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	322					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)	p.P322H(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TGCACAACTCCTTCCACGTCT	0.453																																					p.P219H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C656A	10						.						170.0	157.0	161.0					10																	28897160		2203	4300	6503	28937166	SO:0001583	missense	51322	exon7			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.965C>A	10.37:g.28897160C>A	ENSP00000346986:p.Pro322His		28937166	NM_100486	A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	37	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537693	0.85917	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000428935;ENST00000424454;ENST00000538000	T;T;T;T;T	0.32988	1.88;1.85;1.82;1.88;1.43	5.38	5.38	0.77491	.	0.100432	0.64402	D	0.000001	T	0.42131	0.1189	L	0.36672	1.1	0.58432	D	0.999998	D;P;P	0.53745	0.962;0.899;0.937	P;P;P	0.54664	0.758;0.729;0.673	T	0.24764	-1.0151	10	0.66056	D	0.02	-11.5483	19.4817	0.95013	0.0:1.0:0.0:0.0	.	277;219;322	Q9BTA9-2;Q9BTA9-5;Q9BTA9	.;.;WAC_HUMAN	H	277;174;219;322;277;277;277	ENSP00000364816:P277H;ENSP00000364797:P174H;ENSP00000311106:P219H;ENSP00000346986:P322H;ENSP00000399706:P277H	ENSP00000311106:P219H	P	+	2	0	WAC	28937166	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.851000	0.55926	2.676000	0.91093	0.591000	0.81541	CCT		0.453	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264	
MTPAP	55149	hgsc.bcm.edu	37	10	30602591	30602591	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:30602591T>C	ENST00000263063.4	-	9	1739	c.1696A>G	c.(1696-1698)Aca>Gca	p.T566A	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000358107.4_Missense_Mutation_p.T696A	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	566					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)	p.T566A(1)|p.T696A(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						AAATTTTCTGTTCTGTTACCT	0.368																																					p.T566A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1696G	10						.						161.0	158.0	159.0					10																	30602591		2203	4300	6503	30642597	SO:0001583	missense	55149	exon9			AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.1696A>G	10.37:g.30602591T>C	ENSP00000263063:p.Thr566Ala		30642597	NM_018109	D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	ENST00000263063.4	37	CCDS7165.1	.	.	.	.	.	.	.	.	.	.	T	1.343	-0.593540	0.03771	.	.	ENSG00000107951	ENST00000358107;ENST00000263063	T;T	0.28666	2.29;1.6	5.64	-11.3	0.00108	.	1.768380	0.02566	N	0.097235	T	0.10809	0.0264	N	0.05383	-0.06	0.09310	N	1	B;B	0.13594	0.008;0.0	B;B	0.11329	0.006;0.001	T	0.08513	-1.0718	10	0.07990	T	0.79	-0.503	6.6802	0.23115	0.0749:0.3531:0.3891:0.183	.	696;566	Q9NVV4-2;Q9NVV4	.;PAPD1_HUMAN	A	696;566	ENSP00000350820:T696A;ENSP00000263063:T566A	ENSP00000263063:T566A	T	-	1	0	MTPAP	30642597	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	-3.245000	0.00542	-2.428000	0.00559	0.533000	0.62120	ACA		0.368	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109	
ZNF25	219749	hgsc.bcm.edu	37	10	38241529	38241529	+	Silent	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:38241529T>C	ENST00000302609.7	-	6	1109	c.897A>G	c.(895-897)tcA>tcG	p.S299S	AL117337.1_ENST00000582458.1_RNA|ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	299					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.S299S(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				TTTTGAGGTGTGAATTCCTAG	0.433																																					p.S299S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A897G	10						.						70.0	69.0	69.0					10																	38241529		2203	4300	6503	38281535	SO:0001819	synonymous_variant	219749	exon6			AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"""Zinc fingers, C2H2-type"", ""-"""	13043	protein-coding gene	gene with protein product		194528	"""zinc finger protein 25 (KOX 19)"""			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.897A>G	10.37:g.38241529T>C			38281535	NM_145011	A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Silent	SNP	ENST00000302609.7	37	CCDS7195.1																																																																																				0.433	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051214.1	NM_145011, NM_006966	
RASSF4	83937	hgsc.bcm.edu	37	10	45467249	45467249	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:45467249T>C	ENST00000340258.5	+	3	204	c.91T>C	c.(91-93)Tac>Cac	p.Y31H	RASSF4_ENST00000334940.6_Intron|C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000374417.2_Missense_Mutation_p.Y31H|RASSF4_ENST00000472561.1_3'UTR	NM_032023.3	NP_114412.2	Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	0					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)	p.Y31H(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCTGAAAACCTACAACTGCTA	0.562																																					p.Y31H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T91C	10						.						211.0	165.0	180.0					10																	45467249		2203	4300	6503	44787255	SO:0001583	missense	83937	exon3			BC032593	CCDS7208.1	10q11.1	2008-02-22	2008-02-22		ENSG00000107551	ENSG00000107551			20793	protein-coding gene	gene with protein product		610559					Standard	NM_032023		Approved	AD037, MGC44914	uc001jbo.3	Q9H2L5	OTTHUMG00000018060	ENST00000340258.5:c.91T>C	10.37:g.45467249T>C	ENSP00000339692:p.Tyr31His		44787255	NM_032023	Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000340258.5	37	CCDS7208.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.077621	0.76528	.	.	ENSG00000107551	ENST00000374417;ENST00000374414;ENST00000340258;ENST00000427758;ENST00000428466;ENST00000374411	T;T;T;T	0.39592	1.13;1.07;1.13;1.13	5.24	5.24	0.73138	.	0.262772	0.39274	N	0.001414	T	0.66636	0.2809	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.72297	-0.4335	10	0.87932	D	0	-17.434	11.821	0.52238	0.0:0.0:0.0:1.0	.	122;31	Q59FL4;Q9H2L5	.;RASF4_HUMAN	H	31;31;31;31;24;122	ENSP00000363538:Y31H;ENSP00000339692:Y31H;ENSP00000409767:Y31H;ENSP00000413468:Y24H	ENSP00000339692:Y31H	Y	+	1	0	RASSF4	44787255	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.953000	0.56699	2.109000	0.64355	0.533000	0.62120	TAC		0.562	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047745.2	NM_032023	
FRMPD2	143162	hgsc.bcm.edu	37	10	49440302	49440302	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:49440302T>C	ENST00000374201.3	-	10	1326	c.1024A>G	c.(1024-1026)Agg>Ggg	p.R342G	FRMPD2_ENST00000407470.4_Missense_Mutation_p.R311G|FRMPD2_ENST00000305531.3_Missense_Mutation_p.R318G	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	342	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.R342G(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CAGAGGTCCCTGAGAGCCAAA	0.438																																					p.R342G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1024G	10						.						82.0	77.0	79.0					10																	49440302		2203	4300	6503	49110308	SO:0001583	missense	143162	exon10			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1024A>G	10.37:g.49440302T>C	ENSP00000363317:p.Arg342Gly		49110308	NM_001018071	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.890426	0.72524	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.70986	-0.48;-0.52;-0.53	5.44	3.02	0.34903	Band 4.1 domain (1);FERM domain (1);	.	.	.	.	T	0.81206	0.4774	M	0.73217	2.22	0.36357	D	0.860471	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.989;0.997	T	0.83355	-0.0001	9	0.62326	D	0.03	.	10.9129	0.47118	0.0:0.0:0.2993:0.7007	.	318;342;311	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	G	342;318;311	ENSP00000363317:R342G;ENSP00000307079:R318G;ENSP00000384339:R311G	ENSP00000307079:R318G	R	-	1	2	FRMPD2	49110308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.113000	0.41902	0.336000	0.23639	0.533000	0.62120	AGG		0.438	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428	
CHAT	1103	hgsc.bcm.edu	37	10	50856570	50856570	+	Silent	SNP	C	C	T	rs146284420		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:50856570C>T	ENST00000337653.2	+	9	1452	c.1299C>T	c.(1297-1299)gaC>gaT	p.D433D	CHAT_ENST00000395559.2_Silent_p.D315D|CHAT_ENST00000351556.3_Silent_p.D315D|CHAT_ENST00000339797.1_Silent_p.D315D|CHAT_ENST00000395562.2_Silent_p.D351D|CHAT_ENST00000455728.2_Silent_p.D315D	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	433					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.D433D(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)	TGGGCCGAGACGGCACCTGCG	0.612																																					p.D315D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C945T	10						.	C	,,,,,,	0,4406		0,0,2203	117.0	71.0	86.0		945,1053,945,1299,945,945,945	-2.1	1.0	10	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CHAT	NM_001142929.1,NM_001142933.1,NM_001142934.1,NM_020549.4,NM_020984.3,NM_020985.3,NM_020986.3	,,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,	315/631,351/667,315/631,433/749,315/631,315/631,315/631	50856570	1,13005	2203	4300	6503	50526576	SO:0001819	synonymous_variant	1103	exon9			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.1299C>T	10.37:g.50856570C>T			50526576	NM_001142929	A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	ENST00000337653.2	37	CCDS7232.1																																																																																				0.612	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549	
PCDH15	65217	hgsc.bcm.edu	37	10	55582969	55582969	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:55582969T>A	ENST00000320301.6	-	33	4911	c.4517A>T	c.(4516-4518)aAa>aTa	p.K1506I	PCDH15_ENST00000395433.1_Missense_Mutation_p.K1483I|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.K1466I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.K1503I|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.K1508I|PCDH15_ENST00000437009.1_Missense_Mutation_p.K1437I|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1506					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.K1513I(1)|p.K1506I(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGACTTCAGTTTGTTGCTCTT	0.378										HNSCC(58;0.16)																											p.K1466I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A4397T	10						.						99.0	98.0	98.0					10																	55582969		2203	4300	6503	55252975	SO:0001583	missense	65217	exon31			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4517A>T	10.37:g.55582969T>A	ENSP00000322604:p.Lys1506Ile		55252975	NM_001142767	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	T	8.465	0.856111	0.17106	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.65916	0.52;0.49;0.52;0.5;0.5;-0.18	5.91	3.5	0.40072	.	.	.	.	.	T	0.37100	0.0991	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B	0.20368	0.044;0.017;0.017;0.017;0.017;0.036;0.044;0.036	B;B;B;B;B;B;B;B	0.23275	0.045;0.028;0.028;0.028;0.028;0.028;0.045;0.028	T	0.18967	-1.0320	9	0.26408	T	0.33	.	4.4011	0.11386	0.3836:0.1025:0.0:0.5138	.	1483;1506;1508;1513;1437;1466;1503;1506	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	I	1466;1508;1483;1506;1503;1513;1437	ENSP00000378820:K1466I;ENSP00000354950:K1508I;ENSP00000378821:K1483I;ENSP00000322604:K1506I;ENSP00000378818:K1503I;ENSP00000412628:K1437I	ENSP00000322604:K1506I	K	-	2	0	PCDH15	55252975	0.999000	0.42202	0.008000	0.14137	0.070000	0.16714	3.879000	0.56138	1.074000	0.40909	0.528000	0.53228	AAA		0.378	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
SGPL1	8879	hgsc.bcm.edu	37	10	72636402	72636402	+	Missense_Mutation	SNP	C	C	T	rs377662375		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:72636402C>T	ENST00000373202.3	+	14	1750	c.1550C>T	c.(1549-1551)gCg>gTg	p.A517V		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	517					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)	p.A517V(1)		large_intestine(4)	4						AATCCTAAAGCGAAGACCACA	0.418																																					p.A517V	Colon(151;1054 2458 6676 40971)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1550T	10						.	C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	123.0	117.0	119.0		1550	4.5	1.0	10		119	0,8600		0,0,4300	no	missense	SGPL1	NM_003901.3	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	517/569	72636402	1,13005	2203	4300	6503	72306408	SO:0001583	missense	8879	exon14			AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.1550C>T	10.37:g.72636402C>T	ENSP00000362298:p.Ala517Val		72306408	NM_003901	B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Missense_Mutation	SNP	ENST00000373202.3	37	CCDS31216.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712437	0.48517	2.27E-4	0.0	ENSG00000166224	ENST00000373202	T	0.46819	0.86	5.43	4.52	0.55395	.	0.096797	0.64402	D	0.000001	T	0.39384	0.1076	L	0.37850	1.14	0.52099	D	0.999949	B	0.16166	0.016	B	0.09377	0.004	T	0.12837	-1.0532	10	0.28530	T	0.3	-7.8173	16.1706	0.81812	0.0:0.8664:0.1336:0.0	.	517	O95470	SGPL1_HUMAN	V	517	ENSP00000362298:A517V	ENSP00000362298:A517V	A	+	2	0	SGPL1	72306408	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	4.114000	0.57858	1.273000	0.44346	0.557000	0.71058	GCG		0.418	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1	NM_003901	
POLR3A	11128	hgsc.bcm.edu	37	10	79769711	79769711	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:79769711G>A	ENST00000372371.3	-	13	1818	c.1681C>T	c.(1681-1683)Cga>Tga	p.R561*		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	561					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|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)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)	p.R561*(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GCCTTGGCTCGATCAAAGAAA	0.438																																					p.R561X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1681T	10						.						89.0	80.0	83.0					10																	79769711		2203	4300	6503	79439717	SO:0001587	stop_gained	11128	exon13			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.1681C>T	10.37:g.79769711G>A	ENSP00000361446:p.Arg561*		79439717	NM_007055	Q8IW34|Q8TCW5	Nonsense_Mutation	SNP	ENST00000372371.3	37	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	G	41	8.816537	0.98964	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	.	.	.	5.42	4.51	0.55191	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.3383	15.7823	0.78269	0.0:0.0:0.8625:0.1375	.	.	.	.	X	561	.	.	R	-	1	2	POLR3A	79439717	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.601000	0.46249	1.399000	0.46721	0.655000	0.94253	CGA		0.438	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055	
ANXA11	311	hgsc.bcm.edu	37	10	81918924	81918924	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:81918924C>A	ENST00000438331.1	-	14	1690	c.1208G>T	c.(1207-1209)gGc>gTc	p.G403V	ANXA11_ENST00000422982.3_Missense_Mutation_p.G403V|ANXA11_ENST00000372231.3_Missense_Mutation_p.G403V|ANXA11_ENST00000265447.4_Missense_Mutation_p.G403V|ANXA11_ENST00000537102.1_Missense_Mutation_p.G370V|ANXA11_ENST00000360615.4_Missense_Mutation_p.G403V|ANXA11_ENST00000535999.1_Missense_Mutation_p.G403V	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	403					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)	p.G403V(1)		endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			AATGTCCCGGCCTGTCATTCT	0.527																																					p.G403V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1208T	10						.						97.0	90.0	92.0					10																	81918924		2203	4300	6503	81908904	SO:0001583	missense	311	exon14			L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.1208G>T	10.37:g.81918924C>A	ENSP00000398610:p.Gly403Val		81908904	NM_145869	B4DVE7	Missense_Mutation	SNP	ENST00000438331.1	37	CCDS7364.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.28|17.28	3.350272|3.350272	0.61183|0.61183	.|.	.|.	ENSG00000122359|ENSG00000122359	ENST00000447489|ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000424188;ENST00000537102;ENST00000372219	.|T;T;T;T;T;T;T	.|0.05513	.|3.43;3.43;3.43;3.43;3.43;3.43;3.43	5.14|5.14	2.91|2.91	0.33838|0.33838	.|Annexin repeat, conserved site (1);	.|0.239529	.|0.43919	.|D	.|0.000504	T|T	0.26412|0.26412	0.0645|0.0645	M|M	0.92367|0.92367	3.3|3.3	0.39490|0.39490	D|D	0.968027|0.968027	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|D;D;D	.|0.81914	.|0.995;0.973;0.973	T|T	0.03423|0.03423	-1.1038|-1.1038	5|10	.|0.72032	.|D	.|0.01	.|.	5.2376|5.2376	0.15454|0.15454	0.0:0.651:0.0:0.349|0.0:0.651:0.0:0.349	.|.	.|503;403;403	.|B7Z6L0;Q5T0G8;P50995	.|.;.;ANX11_HUMAN	S|V	36|403;403;403;403;403;403;403;310;370;50	.|ENSP00000361305:G403V;ENSP00000404412:G403V;ENSP00000398610:G403V;ENSP00000353827:G403V;ENSP00000265447:G403V;ENSP00000441748:G403V;ENSP00000441400:G370V	.|ENSP00000265447:G403V	A|G	-|-	1|2	0|0	ANXA11|ANXA11	81908904|81908904	0.995000|0.995000	0.38212|0.38212	0.088000|0.088000	0.20740|0.20740	0.903000|0.903000	0.53119|0.53119	3.616000|3.616000	0.54174|0.54174	1.329000|1.329000	0.45376|0.45376	0.655000|0.655000	0.94253|0.94253	GCC|GGC		0.527	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869	
MAT1A	4143	hgsc.bcm.edu	37	10	82036321	82036321	+	Silent	SNP	G	G	A	rs142189986		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:82036321G>A	ENST00000372213.3	-	6	839	c.579C>T	c.(577-579)ggC>ggT	p.G193G	MAT1A_ENST00000485270.1_5'Flank	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	193					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)	p.G193G(1)		endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GGATGACTGCGCCATTGTCCT	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		22432	0.001		0.0	False		,,,				2504	0.0				p.G193G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C579T	10						.	G		1,4405	2.1+/-5.4	0,1,2202	187.0	148.0	161.0		579	-9.5	0.0	10	dbSNP_134	161	0,8600		0,0,4300	no	coding-synonymous	MAT1A	NM_000429.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		193/396	82036321	1,13005	2203	4300	6503	82026301	SO:0001819	synonymous_variant	4143	exon6				CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"""S-adenosylmethionine synthetase"""	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.579C>T	10.37:g.82036321G>A			82026301	NM_000429	D3DWD5|Q5QP09	Silent	SNP	ENST00000372213.3	37	CCDS7365.1																																																																																				0.577	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	NM_000429	
GRID1	2894	hgsc.bcm.edu	37	10	87484247	87484247	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:87484247G>T	ENST00000327946.7	-	11	1805	c.1720C>A	c.(1720-1722)Cct>Act	p.P574T	GRID1_ENST00000536331.1_Missense_Mutation_p.P145T	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	574					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.P574T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CCAACCACAGGGATGGCTGCT	0.532										Multiple Myeloma(13;0.14)																											p.P574T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1720A	10						.						80.0	74.0	76.0					10																	87484247		2203	4300	6503	87474227	SO:0001583	missense	2894	exon11			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1720C>A	10.37:g.87484247G>T	ENSP00000330148:p.Pro574Thr		87474227	NM_017551	B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237569	0.79800	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.51574	0.7;0.7	5.61	5.61	0.85477	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.64670	0.2619	L	0.48362	1.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65647	-0.6117	10	0.72032	D	0.01	.	18.5988	0.91240	0.0:0.0:1.0:0.0	.	574	Q9ULK0	GRID1_HUMAN	T	574;145	ENSP00000330148:P574T;ENSP00000444455:P145T	ENSP00000330148:P574T	P	-	1	0	GRID1	87474227	1.000000	0.71417	0.998000	0.56505	0.835000	0.47333	7.788000	0.85771	2.624000	0.88883	0.650000	0.86243	CCT		0.532	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613	
WAPAL	23063	hgsc.bcm.edu	37	10	88259887	88259887	+	Silent	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:88259887A>G	ENST00000298767.5	-	3	1585	c.1113T>C	c.(1111-1113)gtT>gtC	p.V371V		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	371	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)		p.V371V(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CCTGTATGGTAACATTACAAA	0.448																																					p.V371V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1113C	10						.						122.0	110.0	114.0					10																	88259887		2203	4300	6503	88249867	SO:0001819	synonymous_variant	23063	exon3			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.1113T>C	10.37:g.88259887A>G			88249867	NM_015045	A7E2B5|Q5VSK5|Q8IX10|Q92549	Silent	SNP	ENST00000298767.5	37	CCDS7375.1																																																																																				0.448	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045	
NOC3L	64318	hgsc.bcm.edu	37	10	96117944	96117944	+	Silent	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:96117944T>C	ENST00000371361.3	-	3	346	c.246A>G	c.(244-246)gaA>gaG	p.E82E	NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Silent_p.E82E	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	82					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.E82E(1)		endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				CTTCTTCTTCTTCCTCTTCTT	0.358																																					p.E82E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A246G	10						.						128.0	127.0	127.0					10																	96117944		2203	4298	6501	96107934	SO:0001819	synonymous_variant	64318	exon3			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.246A>G	10.37:g.96117944T>C			96107934	NM_022451	Q9H5M6|Q9H9D8	Silent	SNP	ENST00000371361.3	37	CCDS7433.1																																																																																				0.358	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451	
HELLS	3070	hgsc.bcm.edu	37	10	96333867	96333867	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:96333867G>A	ENST00000348459.5	+	8	733	c.628G>A	c.(628-630)Gta>Ata	p.V210I	HELLS_ENST00000371332.4_Missense_Mutation_p.V210I|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394045.1_Missense_Mutation_p.V210I|HELLS_ENST00000394044.1_Missense_Mutation_p.V210I	NM_018063.3	NP_060533.2			helicase, lymphoid-specific									p.V210I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TGGTCAGCCAGTACCTTTTCA	0.378																																					p.V210I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G628A	10						.						142.0	139.0	140.0					10																	96333867		2203	4300	6503	96323857	SO:0001583	missense	3070	exon8			AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.628G>A	10.37:g.96333867G>A	ENSP00000239027:p.Val210Ile		96323857	NM_018063		Missense_Mutation	SNP	ENST00000348459.5	37	CCDS7434.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.415245	0.42817	.	.	ENSG00000119969	ENST00000348459;ENST00000394045;ENST00000394044;ENST00000371332	T;T;D;T	0.93426	0.57;0.57;-3.22;0.57	5.82	3.98	0.46160	.	0.000000	0.85682	D	0.000000	D	0.93654	0.7973	L	0.34521	1.04	0.80722	D	1	P;B;B;D;D	0.89917	0.537;0.264;0.011;0.998;1.0	B;B;B;D;D	0.83275	0.343;0.119;0.017;0.995;0.996	D	0.91839	0.5482	9	.	.	.	-22.0232	11.9599	0.53003	0.1362:0.0:0.8638:0.0	.	194;210;210;210;210	Q9NRZ9-2;Q6I7N8;Q9NRZ9-6;Q9NRZ9-5;Q9NRZ9	.;.;.;.;HELLS_HUMAN	I	210	ENSP00000239027:V210I;ENSP00000377609:V210I;ENSP00000377608:V210I;ENSP00000360383:V210I	.	V	+	1	0	HELLS	96323857	1.000000	0.71417	0.996000	0.52242	0.004000	0.04260	5.733000	0.68571	0.806000	0.34183	-0.806000	0.03193	GTA		0.378	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063	
ENTPD1	953	hgsc.bcm.edu	37	10	97626094	97626094	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:97626094T>C	ENST00000371205.4	+	10	1770	c.1487T>C	c.(1486-1488)tTg>tCg	p.L496S	ENTPD1_ENST00000543964.1_Missense_Mutation_p.L388S|ENTPD1-AS1_ENST00000416301.1_RNA|RP11-248J23.7_ENST00000491114.1_Intron|ENTPD1_ENST00000371207.3_Missense_Mutation_p.L508S|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371203.5_Missense_Mutation_p.L358S|ENTPD1_ENST00000453258.2_Missense_Mutation_p.L503S|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1_ENST00000539125.1_Missense_Mutation_p.L358S			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	496					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)	p.L496S(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		ATCATAGGCTTGCTTATCTTT	0.468																																					p.L496S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1487C	10						.						177.0	159.0	165.0					10																	97626094		2203	4300	6503	97616084	SO:0001583	missense	953	exon10			S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.1487T>C	10.37:g.97626094T>C	ENSP00000360248:p.Leu496Ser		97616084	NM_001776	A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Missense_Mutation	SNP	ENST00000371205.4	37	CCDS7444.1	.	.	.	.	.	.	.	.	.	.	T	2.900	-0.227703	0.06022	.	.	ENSG00000138185	ENST00000453258;ENST00000371207;ENST00000543964;ENST00000539125;ENST00000371203;ENST00000371205	T;T;T;T;T;T	0.11277	2.79;2.79;3.48;3.21;3.21;2.8	6.01	3.73	0.42828	.	0.996520	0.08143	N	0.991256	T	0.06280	0.0162	N	0.08118	0	0.18873	N	0.999987	B;B;B;B	0.21309	0.031;0.053;0.054;0.011	B;B;B;B	0.23150	0.01;0.022;0.044;0.01	T	0.35475	-0.9787	10	0.46703	T	0.11	0.1483	5.4075	0.16330	0.0:0.111:0.3323:0.5566	.	508;508;503;496	B4DWB9;G3XAF6;P49961-2;P49961	.;.;.;ENTP1_HUMAN	S	503;508;388;358;358;496	ENSP00000390955:L503S;ENSP00000360250:L508S;ENSP00000442968:L388S;ENSP00000440027:L358S;ENSP00000360246:L358S;ENSP00000360248:L496S	ENSP00000360246:L358S	L	+	2	0	ENTPD1	97616084	0.004000	0.15560	0.001000	0.08648	0.004000	0.04260	1.458000	0.35223	1.095000	0.41419	0.533000	0.62120	TTG		0.468	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776	
FANK1	92565	hgsc.bcm.edu	37	10	127697110	127697110	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr10:127697110G>A	ENST00000368693.1	+	8	944	c.840G>A	c.(838-840)acG>acA	p.T280T	FANK1_ENST00000477963.1_3'UTR|FANK1_ENST00000368695.1_Silent_p.T274T			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	280						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T280T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				ATGGAAAGACGCCCCTTATGG	0.468																																					p.T280T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G840A	10						.						93.0	89.0	90.0					10																	127697110		2203	4300	6503	127687100	SO:0001819	synonymous_variant	92565	exon8			BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.840G>A	10.37:g.127697110G>A			127687100	NM_145235	Q6UXY9|Q6X7T6	Silent	SNP	ENST00000368693.1	37	CCDS31309.1	.	.	.	.	.	.	.	.	.	.	G	0.213	-1.035210	0.02029	.	.	ENSG00000203780	ENST00000456942	.	.	.	5.62	-11.2	0.00127	.	.	.	.	.	T	0.31071	0.0785	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39354	-0.9618	4	.	.	.	-27.3117	1.5061	0.02486	0.4166:0.1606:0.2323:0.1904	.	.	.	.	H	175	.	.	R	+	2	0	FANK1	127687100	0.000000	0.05858	0.050000	0.19076	0.153000	0.21895	-4.415000	0.00237	-2.390000	0.00586	-0.882000	0.02950	CGC		0.468	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235	
MAN2A1	4124	hgsc.bcm.edu	37	5	109120531	109120531	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:109120531C>T	ENST00000261483.4	+	10	2716	c.1664C>T	c.(1663-1665)gCa>gTa	p.A555V		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	555					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.A555V(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)		CTTTACACGGCACTGACAGAA	0.398																																					p.A555V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1664T	5						.						116.0	115.0	115.0					5																	109120531		2202	4300	6502	109148430	SO:0001583	missense	4124	exon10				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.1664C>T	5.37:g.109120531C>T	ENSP00000261483:p.Ala555Val		109148430	NM_002372	Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.917857	0.33815	.	.	ENSG00000112893	ENST00000261483	T	0.75367	-0.93	5.95	3.83	0.44106	Glycoside hydrolase, family 38, central domain (2);	0.852975	0.10677	N	0.646796	T	0.55847	0.1946	N	0.16656	0.425	0.09310	N	1	B	0.12630	0.006	B	0.19666	0.026	T	0.42032	-0.9475	10	0.30078	T	0.28	-0.7224	4.5563	0.12138	0.0:0.5342:0.0:0.4658	.	555	Q16706	MA2A1_HUMAN	V	555	ENSP00000261483:A555V	ENSP00000261483:A555V	A	+	2	0	MAN2A1	109148430	0.725000	0.28048	0.145000	0.22337	0.718000	0.41266	2.415000	0.44635	1.415000	0.47037	0.655000	0.94253	GCA		0.398	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1		
MAN2A1	4124	hgsc.bcm.edu	37	5	109159443	109159443	+	Missense_Mutation	SNP	C	C	T	rs372232390		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:109159443C>T	ENST00000261483.4	+	16	3523	c.2471C>T	c.(2470-2472)cCg>cTg	p.P824L		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	824					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.P824L(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)		TACACAACACCGCCCTTTGTC	0.328																																					p.P824L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2471T	5						.	C	LEU/PRO	1,4403	2.1+/-5.4	0,1,2201	111.0	103.0	105.0		2471	-2.4	0.0	5		105	0,8600		0,0,4300	no	missense	MAN2A1	NM_002372.2	98	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	824/1145	109159443	1,13003	2202	4300	6502	109187342	SO:0001583	missense	4124	exon16				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.2471C>T	5.37:g.109159443C>T	ENSP00000261483:p.Pro824Leu		109187342	NM_002372	Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	C	7.093	0.572645	0.13623	2.27E-4	0.0	ENSG00000112893	ENST00000261483	T	0.77750	-1.12	5.57	-2.44	0.06502	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.616433	0.17327	N	0.178248	T	0.66237	0.2769	L	0.41824	1.3	0.22648	N	0.998895	B	0.22746	0.074	B	0.27170	0.077	T	0.50233	-0.8852	10	0.11182	T	0.66	5.1785	15.285	0.73822	0.0:0.9021:0.0:0.0979	.	824	Q16706	MA2A1_HUMAN	L	824	ENSP00000261483:P824L	ENSP00000261483:P824L	P	+	2	0	MAN2A1	109187342	0.000000	0.05858	0.000000	0.03702	0.158000	0.22134	-0.006000	0.12833	-0.840000	0.04206	-0.259000	0.10710	CCG		0.328	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1		
FBN2	2201	hgsc.bcm.edu	37	5	127653924	127653924	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:127653924C>T	ENST00000508053.1	-	42	5608	c.4634G>A	c.(4633-4635)gGc>gAc	p.G1545D	FBN2_ENST00000262464.4_Missense_Mutation_p.G1545D			P35556	FBN2_HUMAN	fibrillin 2	1545	EGF-like 26; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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.G1545D(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)		GACACATAGGCCATTGACACA	0.428																																					p.G1545D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4634A	5						.						212.0	201.0	205.0					5																	127653924		2203	4300	6503	127681823	SO:0001583	missense	2201	exon36			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.4634G>A	5.37:g.127653924C>T	ENSP00000424571:p.Gly1545Asp		127681823	NM_001999	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	32	5.151762	0.94645	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.89196	-2.48;-2.48	5.16	5.16	0.70880	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000005	D	0.94938	0.8363	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95057	0.8192	10	0.72032	D	0.01	.	18.82	0.92092	0.0:1.0:0.0:0.0	.	1545	P35556	FBN2_HUMAN	D	1545	ENSP00000262464:G1545D;ENSP00000424571:G1545D	ENSP00000262464:G1545D	G	-	2	0	FBN2	127681823	1.000000	0.71417	0.964000	0.40570	0.989000	0.77384	7.609000	0.82925	2.840000	0.97914	0.655000	0.94253	GGC		0.428	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
RAPGEF6	51735	hgsc.bcm.edu	37	5	130769141	130769141	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:130769141T>C	ENST00000509018.1	-	25	4161	c.3956A>G	c.(3955-3957)cAt>cGt	p.H1319R	RAPGEF6_ENST00000507093.1_Missense_Mutation_p.H1327R|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.H1327R|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.H1332R|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.H1369R	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1319	Ser-rich.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)	p.H1332R(1)|p.H1319R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATGTTGACTATGATCTCCTAT	0.532																																					p.H1332R	Melanoma(168;435 1955 13113 13877 23213)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3995G	5						.						187.0	136.0	153.0					5																	130769141		2203	4300	6503	130797040	SO:0001583	missense	51735	exon27			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.3956A>G	5.37:g.130769141T>C	ENSP00000421684:p.His1319Arg		130797040	NM_001164387	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	T	10.78	1.447312	0.25987	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000514667	T;T;T;T;T	0.23552	2.0;1.9;1.9;2.0;2.09	5.84	4.69	0.59074	.	0.301525	0.40469	N	0.001093	T	0.22282	0.0537	L	0.44542	1.39	0.80722	D	1	B;B;B;B;B	0.26363	0.022;0.147;0.147;0.077;0.08	B;B;B;B;B	0.29077	0.045;0.084;0.045;0.098;0.045	T	0.04203	-1.0969	10	0.25106	T	0.35	.	11.3326	0.49485	0.0:0.0703:0.0:0.9297	.	1327;1327;1369;1332;1319	A3KN82;B7ZML2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;RPGF6_HUMAN	R	1319;1332;1327;1327;1332;1369	ENSP00000421684:H1319R;ENSP00000309298:H1332R;ENSP00000426081:H1327R;ENSP00000296859:H1327R;ENSP00000426948:H1369R	ENSP00000426948:H1369R	H	-	2	0	RAPGEF6;FNIP1	130797040	0.987000	0.35691	0.984000	0.44739	0.153000	0.21895	2.097000	0.41748	2.228000	0.72767	0.533000	0.62120	CAT		0.532	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340	
ACSL6	23305	hgsc.bcm.edu	37	5	131302211	131302211	+	Silent	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:131302211T>C	ENST00000379240.1	-	17	1689	c.1536A>G	c.(1534-1536)ggA>ggG	p.G512G	AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000379272.2_Silent_p.G527G|ACSL6_ENST00000379246.1_Silent_p.G523G|ACSL6_ENST00000379255.1_Silent_p.G437G|ACSL6_ENST00000544770.1_Silent_p.G421G|ACSL6_ENST00000379264.2_Silent_p.G537G|ACSL6_ENST00000357096.1_Silent_p.G437G|ACSL6_ENST00000379244.1_Silent_p.G512G|ACSL6_ENST00000431707.1_Silent_p.G492G|ACSL6_ENST00000296869.4_Silent_p.G537G|ACSL6_ENST00000543479.1_Silent_p.G512G|ACSL6_ENST00000379249.3_Silent_p.G512G			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	512					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)	p.G537G(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACACATTTGGTCCTCTCACAC	0.507																																					p.G537G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A1611G	5						.						161.0	154.0	156.0					5																	131302211		2203	4300	6503	131330110	SO:0001819	synonymous_variant	23305	exon17			AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.1536A>G	5.37:g.131302211T>C			131330110	NM_001009185	J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Silent	SNP	ENST00000379240.1	37																																																																																					0.507	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256	
PPP2CA	5515	hgsc.bcm.edu	37	5	133537691	133537691	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:133537691T>C	ENST00000481195.1	-	3	614	c.334A>G	c.(334-336)Acc>Gcc	p.T112A	CTD-2410N18.5_ENST00000519718.1_Intron|PPP2CA_ENST00000231504.5_5'Flank	NM_002715.2	NP_002706.1	P67775	PP2AA_HUMAN	protein phosphatase 2, catalytic subunit, alpha isozyme	112					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|meiotic nuclear division (GO:0007126)|mesoderm development (GO:0007498)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein dephosphorylation (GO:0006470)|protein heterotrimerization (GO:0070208)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of protein autophosphorylation (GO:0031952)|regulation of protein catabolic process (GO:0042176)|regulation of receptor activity (GO:0010469)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.T112A(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Vitamin E(DB00163)	CGAAGAATGGTGATGCGTTCA	0.318																																					p.T112A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A334G	5						.						106.0	103.0	104.0					5																	133537691		2203	4300	6503	133565590	SO:0001583	missense	5515	exon3				CCDS4173.1	5q31.1	2013-01-24	2010-03-05		ENSG00000113575	ENSG00000113575	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9299	protein-coding gene	gene with protein product	"""protein phosphatase 2A catalytic subunit, alpha isoform"""	176915	"""protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform"""			8383590	Standard	NM_002715		Approved	PP2Calpha		P67775	OTTHUMG00000129119	ENST00000481195.1:c.334A>G	5.37:g.133537691T>C	ENSP00000418447:p.Thr112Ala		133565590	NM_002715	P05323|P13197	Missense_Mutation	SNP	ENST00000481195.1	37	CCDS4173.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.311120	0.81358	.	.	ENSG00000113575	ENST00000481195;ENST00000522385;ENST00000523082	D;D;D	0.84146	-1.81;-1.81;-1.81	5.82	5.82	0.92795	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.90511	0.7027	H	0.95679	3.705	0.80722	D	1	B	0.23990	0.095	B	0.27170	0.077	D	0.89690	0.3897	10	0.87932	D	0	-3.2122	16.1777	0.81874	0.0:0.0:0.0:1.0	.	112	P67775	PP2AA_HUMAN	A	112;47;99	ENSP00000418447:T112A;ENSP00000430869:T47A;ENSP00000428816:T99A	ENSP00000418447:T112A	T	-	1	0	PPP2CA	133565590	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.040000	0.89188	2.222000	0.72286	0.383000	0.25322	ACC		0.318	PPP2CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251165.1	NM_002715	
CLPTM1L	81037	hgsc.bcm.edu	37	5	1341787	1341787	+	Splice_Site	SNP	T	T	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:1341787T>G	ENST00000320895.5	-	3	709	c.452A>C	c.(451-453)cAg>cCg	p.Q151P	CLPTM1L_ENST00000320927.6_Splice_Site_p.Q151P|CLPTM1L_ENST00000507807.1_Splice_Site_p.Q18P	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	151					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.Q151P(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GACCCTCACCTGTGTATCAGA	0.562																																					p.Q151P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A452C	5						.						108.0	98.0	102.0					5																	1341787		2203	4300	6503	1394787	SO:0001630	splice_region_variant	81037	exon3			AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"""cisplatin resistance related protein"""	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.453+1A>C	5.37:g.1341787T>G			1394787	NM_030782	D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Missense_Mutation	SNP	ENST00000320895.5	37	CCDS3862.1	.	.	.	.	.	.	.	.	.	.	T	8.323	0.824793	0.16678	.	.	ENSG00000049656	ENST00000320895;ENST00000507807;ENST00000320927	T;T;T	0.45668	0.9;0.89;0.89	4.65	4.65	0.58169	.	0.396093	0.28544	N	0.014963	T	0.32346	0.0826	L	0.31065	0.9	0.52099	D	0.999942	B;P	0.39717	0.012;0.684	B;B	0.37833	0.016;0.259	T	0.09862	-1.0655	10	0.33940	T	0.23	-27.9302	14.4004	0.67041	0.0:0.0:0.0:1.0	.	151;18	Q96KA5;G5E9Z2	CLP1L_HUMAN;.	P	151;18;151	ENSP00000313854:Q151P;ENSP00000423321:Q18P;ENSP00000315196:Q151P	ENSP00000313854:Q151P	Q	-	2	0	CLPTM1L	1394787	1.000000	0.71417	0.850000	0.33497	0.011000	0.07611	5.459000	0.66685	1.865000	0.54081	0.459000	0.35465	CAG		0.562	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782	Missense_Mutation
SLC23A1	9963	hgsc.bcm.edu	37	5	138717681	138717681	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:138717681G>T	ENST00000348729.3	-	3	254	c.208C>A	c.(208-210)Ctg>Atg	p.L70M	SLC23A1_ENST00000353963.3_Missense_Mutation_p.L70M|SLC23A1_ENST00000503919.1_5'UTR	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	70					brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)	p.L70M(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	CCCACACACAGCGCCTCAGCC	0.617																																					p.L70M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C208A	5						.						93.0	66.0	76.0					5																	138717681		2200	4300	6500	138745580	SO:0001583	missense	9963	exon3			AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"""Solute carriers"""	10974	protein-coding gene	gene with protein product		603790	"""solute carrier family 23 (nucleobase transporters), member 2"""	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.208C>A	5.37:g.138717681G>T	ENSP00000302701:p.Leu70Met		138745580	NM_005847	O95191|Q8WWB6|Q9UGH4|Q9UI39	Missense_Mutation	SNP	ENST00000348729.3	37	CCDS4212.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516034	0.44763	.	.	ENSG00000170482	ENST00000353963;ENST00000348729;ENST00000339881;ENST00000453898;ENST00000508270	T;T	0.21932	1.98;1.99	4.82	2.98	0.34508	.	0.240613	0.41823	N	0.000807	T	0.13200	0.0320	N	0.05199	-0.095	0.40450	D	0.980131	B;B	0.19935	0.005;0.04	B;B	0.33690	0.096;0.168	T	0.12426	-1.0548	10	0.37606	T	0.19	-0.9437	12.915	0.58200	0.0:0.0:0.4638:0.5362	.	70;70	Q9UHI7;Q9UHI7-2	S23A1_HUMAN;.	M	70;70;70;70;144	ENSP00000302851:L70M;ENSP00000302701:L70M	ENSP00000343584:L70M	L	-	1	2	SLC23A1	138745580	0.998000	0.40836	0.995000	0.50966	0.982000	0.71751	0.677000	0.25262	0.589000	0.29677	0.448000	0.29417	CTG		0.617	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374185.1	NM_152685	
HARS2	23438	hgsc.bcm.edu	37	5	140075196	140075196	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:140075196G>A	ENST00000230771.3	+	5	726	c.503G>A	c.(502-504)cGt>cAt	p.R168H	HARS2_ENST00000435019.2_Missense_Mutation_p.R128H|HARS2_ENST00000432671.2_Intron|HARS2_ENST00000437649.2_Intron|HARS2_ENST00000448069.2_Intron|HARS2_ENST00000508522.1_Missense_Mutation_p.R143H	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	168					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)|poly(A) RNA binding (GO:0044822)	p.R168H(2)		NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCAAGGCCGTTATAGGGAG	0.488																																					p.R168H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G503A	5						.						141.0	136.0	138.0					5																	140075196		2203	4300	6503	140055380	SO:0001583	missense	23438	exon5			U18937	CCDS4238.1, CCDS64267.1	5q31.3	2012-07-20	2012-07-20	2007-02-23	ENSG00000112855	ENSG00000112855	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4817	protein-coding gene	gene with protein product	"""histidine tRNA ligase 2, mitochondrial (putative)"""	600783	"""histidyl-tRNA synthetase-like"""	HARSL		7755634, 21464306	Standard	NM_012208		Approved	HO3, HARSR	uc003lgx.3	P49590	OTTHUMG00000129500	ENST00000230771.3:c.503G>A	5.37:g.140075196G>A	ENSP00000230771:p.Arg168His		140055380	NM_012208	B4DDY8	Missense_Mutation	SNP	ENST00000230771.3	37	CCDS4238.1	.	.	.	.	.	.	.	.	.	.	g	28.7	4.946222	0.92593	.	.	ENSG00000112855	ENST00000230771;ENST00000509299;ENST00000435019;ENST00000508522;ENST00000427675	T;D;T;T	0.96830	-0.48;-4.14;-0.48;-0.48	6.17	6.17	0.99709	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.99124	0.9698	H	0.98996	4.395	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.995;0.995;0.995	D	0.98667	1.0686	10	0.87932	D	0	-9.1108	20.8794	0.99867	0.0:0.0:1.0:0.0	.	54;143;168;168	E9PD60;B4DDY8;B2R7G6;P49590	.;.;.;SYHM_HUMAN	H	168;174;128;143;40	ENSP00000230771:R168H;ENSP00000425695:R174H;ENSP00000412887:R128H;ENSP00000423616:R143H	ENSP00000230771:R168H	R	+	2	0	HARS2	140055380	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	CGT		0.488	HARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251670.2	NM_012208	
PCDHA1	56147	hgsc.bcm.edu	37	5	140167430	140167430	+	Missense_Mutation	SNP	G	G	A	rs140204027		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:140167430G>A	ENST00000504120.2	+	1	1555	c.1555G>A	c.(1555-1557)Gca>Aca	p.A519T	PCDHA1_ENST00000394633.3_Missense_Mutation_p.A519T|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A519T	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	519	Cadherin 5. {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.A519T(4)		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)			CAAGGTGTACGCACTGCAGCC	0.682																																					p.A519T												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G1555A	5						.						75.0	77.0	77.0					5																	140167430		2203	4299	6502	140147614	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.1555G>A	5.37:g.140167430G>A	ENSP00000420840:p.Ala519Thr		140147614	NM_031410	O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	23.9	4.473564	0.84640	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.42513	0.97;0.97;0.97	3.63	2.75	0.32379	Cadherin (5);Cadherin-like (1);	0.000000	0.41097	U	0.000943	T	0.48447	0.1500	L	0.31476	0.935	0.39827	D	0.972913	D;D;D	0.89917	0.998;1.0;0.998	P;D;P	0.68943	0.737;0.961;0.766	T	0.51710	-0.8671	10	0.87932	D	0	.	11.3922	0.49822	0.0916:0.0:0.9084:0.0	.	519;519;519	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	T	519	ENSP00000420840:A519T;ENSP00000378129:A519T;ENSP00000367373:A519T	ENSP00000367373:A519T	A	+	1	0	PCDHA1	140147614	0.989000	0.36119	1.000000	0.80357	0.949000	0.60115	3.064000	0.49986	0.661000	0.30985	-0.273000	0.10243	GCA		0.682	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900	
PCDHB16	57717	hgsc.bcm.edu	37	5	140562929	140562929	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:140562929C>T	ENST00000361016.2	+	1	1950	c.795C>T	c.(793-795)tcC>tcT	p.S265S		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	265	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S265S(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCACCGTCTCCGCCAGGGATT	0.478																																					p.S265S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C795T	5						.						62.0	63.0	63.0					5																	140562929		2203	4300	6503	140543113	SO:0001819	synonymous_variant	57717	exon1			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.795C>T	5.37:g.140562929C>T			140543113	NM_020957	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	CCDS4251.1																																																																																				0.478	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957	
PCDHB11	56125	hgsc.bcm.edu	37	5	140580526	140580526	+	Silent	SNP	A	A	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:140580526A>T	ENST00000354757.3	+	1	1179	c.1179A>T	c.(1177-1179)ctA>ctT	p.L393L	PCDHB11_ENST00000536699.1_Silent_p.L28L	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	393	Cadherin 4. {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.L393L(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATTCGTGCTAAAATCTTCAG	0.468																																					p.L393L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1179T	5						.						114.0	114.0	114.0					5																	140580526		2203	4300	6503	140560710	SO:0001819	synonymous_variant	56125	exon1			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1179A>T	5.37:g.140580526A>T			140560710	NM_018931	B4DSF7|Q2M223	Silent	SNP	ENST00000354757.3	37	CCDS4253.1																																																																																				0.468	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931	
PCDHGA12	26025	hgsc.bcm.edu	37	5	140810777	140810777	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:140810777C>T	ENST00000252085.3	+	1	593	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	151	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R151W(2)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGAGATGCGGTTCCCTCT	0.473																																					p.R151W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C451T	5						.						92.0	105.0	101.0					5																	140810777		2203	4300	6503	140790961	SO:0001583	missense	26025	exon1			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.451C>T	5.37:g.140810777C>T	ENSP00000252085:p.Arg151Trp		140790961	NM_032094	O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	14.05	2.420411	0.42918	.	.	ENSG00000253159	ENST00000252085	T	0.53857	0.6	5.79	2.69	0.31865	Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.83083	0.5177	H	0.98314	4.2	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.979;0.989	T	0.78648	-0.2122	9	0.87932	D	0	.	16.35	0.83199	0.4112:0.5888:0.0:0.0	.	151;151	O60330-2;O60330	.;PCDGC_HUMAN	W	151	ENSP00000252085:R151W	ENSP00000252085:R151W	R	+	1	2	PCDHGA12	140790961	0.001000	0.12720	0.995000	0.50966	0.678000	0.39670	0.549000	0.23329	0.776000	0.33473	0.650000	0.86243	CGG		0.473	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735	
PCDHGC3	5098	hgsc.bcm.edu	37	5	140856344	140856344	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:140856344A>G	ENST00000308177.3	+	1	765	c.661A>G	c.(661-663)Acc>Gcc	p.T221A	PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	221	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T221A(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGGAGGGACCCCAGCTCT	0.627																																					p.T221A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A661G	5						.						39.0	30.0	33.0					5																	140856344		2203	4300	6503	140836528	SO:0001583	missense	5098	exon1			AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.661A>G	5.37:g.140856344A>G	ENSP00000312070:p.Thr221Ala		140836528	NM_032402	O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	A	3.602	-0.081308	0.07141	.	.	ENSG00000240184	ENST00000308177	T	0.51574	0.7	5.26	4.11	0.48088	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.39886	0.1095	L	0.39633	1.23	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.002	T	0.31916	-0.9926	9	0.52906	T	0.07	.	11.0218	0.47722	0.9277:0.0:0.0723:0.0	.	221;221	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	A	221	ENSP00000312070:T221A	ENSP00000312070:T221A	T	+	1	0	PCDHGC3	140836528	0.186000	0.23225	0.093000	0.20910	0.044000	0.14063	4.200000	0.58433	1.027000	0.39758	-0.250000	0.11733	ACC		0.627	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588	
PCDHGC4	56098	hgsc.bcm.edu	37	5	140865529	140865529	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:140865529G>A	ENST00000306593.1	+	1	789	c.789G>A	c.(787-789)caG>caA	p.Q263Q	PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	263	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.Q263Q(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)			TGCTCATCCAGCTCAATGCCT	0.547																																					p.Q263Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G789A	5						.						64.0	69.0	67.0					5																	140865529		2203	4300	6503	140845713	SO:0001819	synonymous_variant	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.789G>A	5.37:g.140865529G>A			140845713	NM_032406	Q495T2|Q9Y5C3	Silent	SNP	ENST00000306593.1	37	CCDS4262.1																																																																																				0.547	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928	
SPRY4	81848	hgsc.bcm.edu	37	5	141694540	141694540	+	Missense_Mutation	SNP	G	G	A	rs201367235		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:141694540G>A	ENST00000434127.2	-	2	377	c.134C>T	c.(133-135)aCc>aTc	p.T45I	SPRY4_ENST00000344120.4_Missense_Mutation_p.T68I|SPRY4_ENST00000503582.1_5'Flank	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	45					multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.T68I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACATGGCTGGTCTTCACCTG	0.642									Testicular Cancer, Familial Clustering of																												p.T68I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C203T	5						.						36.0	38.0	37.0					5																	141694540		2194	4280	6474	141674724	SO:0001583	missense	81848	exon3	Familial Cancer Database		AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.134C>T	5.37:g.141694540G>A	ENSP00000399468:p.Thr45Ile		141674724	NM_030964	A4FVB2|A4FVB3|Q6QIX2|Q9C003	Missense_Mutation	SNP	ENST00000434127.2	37	CCDS47296.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.668805	0.67814	.	.	ENSG00000187678	ENST00000344120;ENST00000434127;ENST00000359661;ENST00000511815	T;T	0.64085	-0.08;-0.08	5.77	5.77	0.91146	.	0.112127	0.64402	D	0.000010	T	0.57036	0.2026	L	0.36672	1.1	0.58432	D	0.999995	P;B	0.36909	0.573;0.077	B;B	0.35312	0.2;0.069	T	0.61287	-0.7093	10	0.87932	D	0	-23.1387	19.982	0.97329	0.0:0.0:1.0:0.0	.	45;45	Q9C004-2;Q9C004	.;SPY4_HUMAN	I	68;45;45;45	ENSP00000344967:T68I;ENSP00000399468:T45I	ENSP00000344967:T68I	T	-	2	0	SPRY4	141674724	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.596000	0.82721	2.737000	0.93849	0.561000	0.74099	ACC		0.642	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1		
TRIO	7204	hgsc.bcm.edu	37	5	14497066	14497066	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:14497066C>T	ENST00000344204.4	+	50	7983	c.7959C>T	c.(7957-7959)ggC>ggT	p.G2653G	TRIO_ENST00000344135.5_Silent_p.G152G|TRIO_ENST00000537187.1_Silent_p.G2477G	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2653					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.G2653G(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)					AAAGGGAAGGCAAGTTAGAGA	0.473																																					p.G2653G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7959T	5						.						148.0	128.0	135.0					5																	14497066		2203	4300	6503	14550066	SO:0001819	synonymous_variant	7204	exon50			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.7959C>T	5.37:g.14497066C>T			14550066	NM_007118	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	CCDS3883.1																																																																																				0.473	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118	
ARHGAP26	23092	hgsc.bcm.edu	37	5	142292801	142292801	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:142292801G>A	ENST00000274498.4	+	10	1349	c.971G>A	c.(970-972)cGg>cAg	p.R324Q	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.R324Q	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	324	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.R324Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCTGCACACGGCGGAAAACA	0.473																																					p.R324Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G971A	5						.						178.0	167.0	170.0					5																	142292801		2203	4300	6503	142272985	SO:0001583	missense	23092	exon10			AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.971G>A	5.37:g.142292801G>A	ENSP00000274498:p.Arg324Gln		142272985	NM_015071	O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	37	CCDS4277.1	.	.	.	.	.	.	.	.	.	.	G	36	5.770069	0.96914	.	.	ENSG00000145819	ENST00000274498;ENST00000378004;ENST00000451259	T;T;T	0.43688	0.94;0.94;0.94	5.99	5.99	0.97316	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.077766	0.64402	D	0.000003	T	0.63319	0.2501	M	0.83384	2.64	0.80722	D	1	D;P	0.56746	0.977;0.927	P;P	0.53760	0.567;0.734	T	0.64993	-0.6276	10	0.51188	T	0.08	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	324;324	Q9UNA1;Q9UNA1-2	RHG26_HUMAN;.	Q	324;324;25	ENSP00000274498:R324Q;ENSP00000367243:R324Q;ENSP00000411571:R25Q	ENSP00000274498:R324Q	R	+	2	0	ARHGAP26	142272985	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	8.969000	0.93411	2.840000	0.97914	0.655000	0.94253	CGG		0.473	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071	
SH3TC2	79628	hgsc.bcm.edu	37	5	148427439	148427439	+	Missense_Mutation	SNP	G	G	A	rs142488510		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:148427439G>A	ENST00000515425.1	-	3	366	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	SH3TC2_ENST00000512049.1_Missense_Mutation_p.R89C|SH3TC2_ENST00000394358.2_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	89					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)		p.R89C(3)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACAGCATGCGCACCTCCTGG	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		17872	0.0		0.001	False		,,,				2504	0.0				p.R89C												.	.	3	Substitution - Missense(3)	large_intestine(2)|lung(1)	c.C265T	5						.						114.0	105.0	108.0					5																	148427439		2203	4300	6503	148407632	SO:0001583	missense	79628	exon3			AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.265C>T	5.37:g.148427439G>A	ENSP00000423660:p.Arg89Cys		148407632	NM_024577	B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	CCDS4293.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	5.946	0.358618	0.11239	.	.	ENSG00000169247	ENST00000515425;ENST00000512049	T;T	0.75589	-0.94;-0.95	5.38	2.46	0.29980	.	0.705245	0.13816	N	0.360745	T	0.47655	0.1457	N	0.08118	0	0.09310	N	0.999998	B;B;B	0.18310	0.001;0.027;0.001	B;B;B	0.12837	0.0;0.008;0.0	T	0.23226	-1.0194	10	0.35671	T	0.21	.	1.8063	0.03082	0.1796:0.1588:0.4973:0.1644	.	89;89;89	Q14CC0;D6RFX2;Q8TF17	.;.;S3TC2_HUMAN	C	89	ENSP00000423660:R89C;ENSP00000421860:R89C	ENSP00000313025:R89C	R	-	1	0	SH3TC2	148407632	0.005000	0.15991	0.413000	0.26509	0.305000	0.27757	0.456000	0.21859	1.403000	0.46800	0.655000	0.94253	CGC		0.532	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577	
ABLIM3	22885	hgsc.bcm.edu	37	5	148596588	148596588	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:148596588G>T	ENST00000506113.1	+	7	1218	c.736G>T	c.(736-738)Gga>Tga	p.G246*	ABLIM3_ENST00000326685.7_Nonsense_Mutation_p.G246*|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000508983.1_Nonsense_Mutation_p.G246*|ABLIM3_ENST00000309868.7_Nonsense_Mutation_p.G246*|ABLIM3_ENST00000356541.3_Nonsense_Mutation_p.G246*|ABLIM3_ENST00000504238.1_Nonsense_Mutation_p.G246*			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	246	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)	p.G246*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCACCGAAGGAGAGGAAAT	0.502																																					p.G246X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G736T	5						.						94.0	78.0	83.0					5																	148596588		2203	4300	6503	148576781	SO:0001587	stop_gained	22885	exon8			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.736G>T	5.37:g.148596588G>T	ENSP00000425394:p.Gly246*		148576781	NM_014945	A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Nonsense_Mutation	SNP	ENST00000506113.1	37	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	G	38	7.052759	0.98029	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983	.	.	.	5.49	5.49	0.81192	.	0.052258	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.3417	0.94344	0.0:0.0:1.0:0.0	.	.	.	.	X	246	.	ENSP00000310309:G246X	G	+	1	0	ABLIM3	148576781	1.000000	0.71417	0.968000	0.41197	0.885000	0.51271	9.115000	0.94336	2.727000	0.93392	0.655000	0.94253	GGA		0.502	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945	
FAT2	2196	hgsc.bcm.edu	37	5	150913987	150913987	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:150913987G>T	ENST00000261800.5	-	12	9422	c.9410C>A	c.(9409-9411)gCc>gAc	p.A3137D		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3137	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A3137D(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGATCCCGGGCAAATACTAC	0.552																																					p.A3137D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9410A	5						.						43.0	41.0	41.0					5																	150913987		2203	4300	6503	150894180	SO:0001583	missense	2196	exon12			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.9410C>A	5.37:g.150913987G>T	ENSP00000261800:p.Ala3137Asp		150894180	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	31	5.079523	0.94050	.	.	ENSG00000086570	ENST00000261800	T	0.61980	0.06	5.75	5.75	0.90469	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000013	D	0.89378	0.6698	H	0.99379	4.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93609	0.6937	10	0.87932	D	0	.	19.9382	0.97149	0.0:0.0:1.0:0.0	.	3137	Q9NYQ8	FAT2_HUMAN	D	3137	ENSP00000261800:A3137D	ENSP00000261800:A3137D	A	-	2	0	FAT2	150894180	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.787000	0.99055	2.720000	0.93068	0.563000	0.77884	GCC		0.552	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FAT2	2196	hgsc.bcm.edu	37	5	150922320	150922320	+	Missense_Mutation	SNP	C	C	T	rs369823725		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:150922320C>T	ENST00000261800.5	-	9	8380	c.8368G>A	c.(8368-8370)Gtc>Atc	p.V2790I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2790	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V2790I(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGTCATTGACGTCTCCCACT	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		25013	0.001		0.0	False		,,,				2504	0.0				p.V2790I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8368A	5						.						175.0	161.0	166.0					5																	150922320		2203	4300	6503	150902513	SO:0001583	missense	2196	exon9			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8368G>A	5.37:g.150922320C>T	ENSP00000261800:p.Val2790Ile		150902513	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114656	0.37339	.	.	ENSG00000086570	ENST00000261800	T	0.39229	1.09	5.64	5.64	0.86602	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.107611	0.41194	D	0.000936	T	0.33818	0.0876	L	0.49778	1.585	0.48696	D	0.999693	P	0.49635	0.926	B	0.33454	0.164	T	0.29549	-1.0008	10	0.46703	T	0.11	.	14.9251	0.70871	0.0:0.9294:0.0:0.0706	.	2790	Q9NYQ8	FAT2_HUMAN	I	2790	ENSP00000261800:V2790I	ENSP00000261800:V2790I	V	-	1	0	FAT2	150902513	0.998000	0.40836	1.000000	0.80357	0.928000	0.56348	2.641000	0.46587	2.675000	0.91044	0.462000	0.41574	GTC		0.473	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FAT2	2196	hgsc.bcm.edu	37	5	150948227	150948227	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:150948227A>G	ENST00000261800.5	-	1	278	c.266T>C	c.(265-267)gTg>gCg	p.V89A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	89	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V89A(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAGTTGCCCACCACATACTC	0.507																																					p.V89A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T266C	5						.						242.0	247.0	246.0					5																	150948227		2203	4300	6503	150928420	SO:0001583	missense	2196	exon1			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.266T>C	5.37:g.150948227A>G	ENSP00000261800:p.Val89Ala		150928420	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.403595	0.83230	.	.	ENSG00000086570	ENST00000261800	T	0.60171	0.21	5.45	5.45	0.79879	Cadherin (3);Cadherin-like (1);	0.108992	0.41500	D	0.000861	T	0.69079	0.3071	M	0.85630	2.765	0.54753	D	0.999981	D	0.58268	0.982	P	0.53593	0.73	T	0.70930	-0.4738	10	0.07482	T	0.82	.	15.5309	0.75960	1.0:0.0:0.0:0.0	.	89	Q9NYQ8	FAT2_HUMAN	A	89	ENSP00000261800:V89A	ENSP00000261800:V89A	V	-	2	0	FAT2	150928420	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.262000	0.95591	2.065000	0.61736	0.454000	0.30748	GTG		0.507	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
GEMIN5	25929	hgsc.bcm.edu	37	5	154278000	154278000	+	Splice_Site	SNP	C	C	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:154278000C>A	ENST00000285873.7	-	23	3420	c.3345G>T	c.(3343-3345)caG>caT	p.Q1115H		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1115					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.Q1115H(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)			ACAGACTGACCTGTAGACTTT	0.493																																					p.Q1115H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3345T	5						.						100.0	107.0	105.0					5																	154278000		2203	4300	6503	154258193	SO:0001630	splice_region_variant	25929	exon23			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.3345+1G>T	5.37:g.154278000C>A			154258193	NM_015465	Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868605	0.32977	.	.	ENSG00000082516	ENST00000285873	T	0.70986	-0.53	5.63	4.58	0.56647	.	0.468479	0.22527	N	0.058895	T	0.52789	0.1756	N	0.22421	0.69	0.36091	D	0.843467	B;B	0.31859	0.343;0.343	B;B	0.28232	0.087;0.087	T	0.57952	-0.7722	9	.	.	.	-4.7022	11.1982	0.48726	0.1396:0.7814:0.0:0.079	.	1114;1115	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	H	1115	ENSP00000285873:Q1115H	.	Q	-	3	2	GEMIN5	154258193	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	3.415000	0.52700	2.652000	0.90054	0.655000	0.94253	CAG		0.493	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1		Missense_Mutation
MRPL22	29093	hgsc.bcm.edu	37	5	154320822	154320822	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:154320822T>C	ENST00000523037.1	+	2	115	c.74T>C	c.(73-75)tTg>tCg	p.L25S	MRPL22_ENST00000439747.3_Missense_Mutation_p.L51S|MRPL22_ENST00000522038.1_Missense_Mutation_p.L25S|MRPL22_ENST00000265229.8_5'UTR	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22	25					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.L25S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAGCTGGCCTTGGGGTGAGTC	0.537																																					p.L25S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T74C	5						.						104.0	105.0	104.0					5																	154320822		2203	4300	6503	154301015	SO:0001583	missense	29093	exon2			AB051622	CCDS4331.1, CCDS43391.1	5q33.2	2012-09-13			ENSG00000082515	ENSG00000082515		"""Mitochondrial ribosomal proteins / large subunits"""	14480	protein-coding gene	gene with protein product		611835					Standard	NM_014180		Approved	MRP-L25, RPML25, HSPC158	uc003lvy.4	Q9NWU5	OTTHUMG00000130190	ENST00000523037.1:c.74T>C	5.37:g.154320822T>C	ENSP00000431040:p.Leu25Ser		154301015	NM_014180	A6NGJ8|Q5H9Q1|Q96Q51|Q9P006	Missense_Mutation	SNP	ENST00000523037.1	37	CCDS4331.1	.	.	.	.	.	.	.	.	.	.	T	3.511	-0.099879	0.07010	.	.	ENSG00000082515	ENST00000523037;ENST00000439747;ENST00000522038	T;T;T	0.48836	0.83;0.8;0.95	4.79	3.63	0.41609	.	1.096800	0.06957	N	0.815712	T	0.35068	0.0919	N	0.25647	0.755	0.25679	N	0.985818	B	0.10296	0.003	B	0.09377	0.004	T	0.24368	-1.0162	10	0.21014	T	0.42	-15.196	8.8415	0.35144	0.0:0.0:0.1897:0.8103	.	25	Q9NWU5	RM22_HUMAN	S	25;51;25	ENSP00000431040:L25S;ENSP00000411177:L51S;ENSP00000429039:L25S	ENSP00000411177:L51S	L	+	2	0	MRPL22	154301015	0.361000	0.24972	0.659000	0.29680	0.082000	0.17680	0.298000	0.19120	0.965000	0.38133	-0.272000	0.10252	TTG		0.537	MRPL22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252508.2		
HAVCR2	84868	hgsc.bcm.edu	37	5	156535950	156535950	+	Silent	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:156535950C>T	ENST00000307851.4	-	1	775	c.45G>A	c.(43-45)ctG>ctA	p.L15L	CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000522593.1_Silent_p.L15L|HAVCR2_ENST00000517358.1_5'Flank	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	15						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L18delL(1)|p.L15L(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAAGTAGTAGCAGCAGCAGCA	0.443																																					p.L15L												.	.	2	Substitution - coding silent(1)|Deletion - In frame(1)	large_intestine(2)	c.G45A	5						.						135.0	120.0	126.0					5																	156535950		2203	4300	6503	156468528	SO:0001819	synonymous_variant	84868	exon1			AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"""Immunoglobulin superfamily / V-set domain containing"""	18437	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 3"""	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.45G>A	5.37:g.156535950C>T			156468528	NM_032782	B2RAY2|Q8WW60|Q96K94	Silent	SNP	ENST00000307851.4	37	CCDS4333.1																																																																																				0.443	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252574.2		
TTC1	7265	hgsc.bcm.edu	37	5	159492052	159492052	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:159492052A>G	ENST00000231238.5	+	8	969	c.859A>G	c.(859-861)Aat>Gat	p.N287D	TTC1_ENST00000520274.1_3'UTR|TTC1_ENST00000522793.1_Missense_Mutation_p.N287D	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	287					protein folding (GO:0006457)	peroxisomal membrane (GO:0005778)	unfolded protein binding (GO:0051082)	p.N287D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		TTTCGTTCAAAATCCAAATAA	0.433																																					p.N287D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A859G	5						.						55.0	55.0	55.0					5																	159492052		2203	4300	6503	159424630	SO:0001583	missense	7265	exon8			U46570	CCDS4348.1	5q32-q33.2	2013-01-10			ENSG00000113312	ENSG00000113312		"""Tetratricopeptide (TTC) repeat domain containing"""	12391	protein-coding gene	gene with protein product		601963				8836031	Standard	NM_003314		Approved	TPR1	uc003lxu.3	Q99614	OTTHUMG00000130326	ENST00000231238.5:c.859A>G	5.37:g.159492052A>G	ENSP00000231238:p.Asn287Asp		159424630	NM_003314	B2RCT2|D3DQJ8|Q9BVT3	Missense_Mutation	SNP	ENST00000231238.5	37	CCDS4348.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.891832	0.91889	.	.	ENSG00000113312	ENST00000231238;ENST00000522793	T;T	0.23552	1.9;1.9	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.51958	0.1705	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.55503	-0.8131	10	0.56958	D	0.05	-25.5414	15.4446	0.75220	1.0:0.0:0.0:0.0	.	287	Q99614	TTC1_HUMAN	D	287	ENSP00000231238:N287D;ENSP00000429225:N287D	ENSP00000231238:N287D	N	+	1	0	TTC1	159424630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.723000	0.74742	2.187000	0.69744	0.533000	0.62120	AAT		0.433	TTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252675.3	NM_003314	
RMND5B	64777	hgsc.bcm.edu	37	5	177574554	177574554	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:177574554C>T	ENST00000515098.1	+	10	1232	c.881C>T	c.(880-882)gCg>gTg	p.A294V	RMND5B_ENST00000542098.1_Missense_Mutation_p.A281V|RMND5B_ENST00000313386.4_Missense_Mutation_p.A294V			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	294								p.A294V(1)		endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCTGTGTGGCGCTGCCTGTG	0.582																																					p.A294V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C881T	5						.						90.0	77.0	82.0					5																	177574554		2203	4300	6503	177507160	SO:0001583	missense	64777	exon9			BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog B"""					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.881C>T	5.37:g.177574554C>T	ENSP00000420875:p.Ala294Val		177507160	NM_022762	Q1HE27|Q6UVY7|Q9H6F6	Missense_Mutation	SNP	ENST00000515098.1	37	CCDS4431.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581689	0.86748	.	.	ENSG00000145916	ENST00000313386;ENST00000515098;ENST00000542098	.	.	.	5.78	4.9	0.64082	Ran binding protein-like, CRA domain (1);	0.060456	0.64402	D	0.000003	T	0.76659	0.4018	M	0.76328	2.33	0.80722	D	1	D;D;D	0.67145	0.996;0.995;0.988	P;P;D	0.63957	0.879;0.808;0.92	T	0.79065	-0.1956	9	0.54805	T	0.06	-14.697	14.6849	0.69042	0.0:0.854:0.146:0.0	.	281;281;294	B3KSG5;F5H6G4;Q96G75	.;.;RMD5B_HUMAN	V	294;294;281	.	ENSP00000320623:A294V	A	+	2	0	RMND5B	177507160	1.000000	0.71417	0.972000	0.41901	0.986000	0.74619	5.883000	0.69721	1.426000	0.47256	0.563000	0.77884	GCG		0.582	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373542.1	NM_022762	
SCGB3A1	92304	hgsc.bcm.edu	37	5	180017676	180017676	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:180017676A>G	ENST00000292641.3	-	2	292	c.215T>C	c.(214-216)aTa>aCa	p.I72T		NM_052863.2	NP_443095.2	Q96QR1	SG3A1_HUMAN	secretoglobin, family 3A, member 1	72					negative regulation of cell growth (GO:0030308)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)	p.I72T(1)		large_intestine(1)|lung(2)	3	all_cancers(89;7.5e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00658)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGCCCTCTATGAGGTGGTT	0.711																																					p.I72T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T215C	5						.						16.0	21.0	19.0					5																	180017676		2180	4279	6459	179950282	SO:0001583	missense	92304	exon2			AF313458	CCDS4456.1	5q35.3	2013-09-19			ENSG00000161055	ENSG00000161055		"""Secretoglobins"""	18384	protein-coding gene	gene with protein product	"""cytokine high in normal-1"", ""pneumo secretory protein 2"""	606500				11682631, 11481438, 22155607	Standard	NM_052863		Approved	UGRP2, HIN-1, HIN1, LU105, PnSP-2	uc003mly.3	Q96QR1	OTTHUMG00000130936	ENST00000292641.3:c.215T>C	5.37:g.180017676A>G	ENSP00000292641:p.Ile72Thr		179950282	NM_052863	Q96PL0	Missense_Mutation	SNP	ENST00000292641.3	37	CCDS4456.1	.	.	.	.	.	.	.	.	.	.	a	11.25	1.584535	0.28268	.	.	ENSG00000161055	ENST00000292641	T	0.00327	8.09	4.7	2.08	0.27032	.	0.894418	0.09229	N	0.830766	T	0.00210	0.0006	L	0.34521	1.04	0.09310	N	1	B	0.29037	0.231	B	0.25405	0.06	T	0.37197	-0.9716	10	0.87932	D	0	-1.5765	4.4962	0.11839	0.6977:0.1979:0.1044:0.0	.	72	Q96QR1	SG3A1_HUMAN	T	72	ENSP00000292641:I72T	ENSP00000292641:I72T	I	-	2	0	SCGB3A1	179950282	0.000000	0.05858	0.001000	0.08648	0.204000	0.24138	0.783000	0.26802	0.751000	0.32900	0.454000	0.30748	ATA		0.711	SCGB3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253533.2	NM_052863	
IRX1	79192	hgsc.bcm.edu	37	5	3599344	3599344	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:3599344G>A	ENST00000302006.3	+	2	334	c.282G>A	c.(280-282)tcG>tcA	p.S94S	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	94					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.S94S(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTCAGGGCTCGCAGTATGAAC	0.607																																					p.S94S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G282A	5						.						27.0	29.0	28.0					5																	3599344		2203	4299	6502	3652344	SO:0001819	synonymous_variant	79192	exon2			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.282G>A	5.37:g.3599344G>A			3652344	NM_024337	Q7Z2F8|Q8N312	Silent	SNP	ENST00000302006.3	37	CCDS34132.1																																																																																				0.607	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337	
PAPD7	11044	hgsc.bcm.edu	37	5	6746519	6746519	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:6746519A>G	ENST00000230859.6	+	7	817	c.688A>G	c.(688-690)Att>Gtt	p.I230V		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	460					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)	p.I230V(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GATGCTGTGCATTGAGGACCC	0.577																																					p.I230V	NSCLC(7;212 333 5667 23379 46547)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A688G	5						.						70.0	72.0	71.0					5																	6746519		2203	4300	6503	6799519	SO:0001583	missense	11044	exon7			AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.688A>G	5.37:g.6746519A>G	ENSP00000230859:p.Ile230Val		6799519	NM_001171805	A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.126623	0.77549	.	.	ENSG00000112941	ENST00000230859	D	0.83419	-1.72	5.06	5.06	0.68205	PAP/25A-associated (1);	0.000000	0.85682	D	0.000000	D	0.89667	0.6781	M	0.70842	2.15	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.982	D	0.88800	0.3284	10	0.34782	T	0.22	-0.4241	15.1213	0.72443	1.0:0.0:0.0:0.0	.	230;230	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	V	230	ENSP00000230859:I230V	ENSP00000230859:I230V	I	+	1	0	PAPD7	6799519	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.949000	0.75971	2.030000	0.59900	0.459000	0.35465	ATT		0.577	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999	
MTRR	4552	hgsc.bcm.edu	37	5	7900161	7900161	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:7900161T>C	ENST00000264668.2	+	15	2198	c.2168T>C	c.(2167-2169)aTt>aCt	p.I723T	MTRR_ENST00000440940.2_Missense_Mutation_p.I696T	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	723					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|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)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)	p.I723T(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CTTCAGGATATTTGGTCATAA	0.338																																					p.I696T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2087C	5						.						62.0	66.0	65.0					5																	7900161		2202	4300	6502	7953161	SO:0001583	missense	4552	exon15			AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.2168T>C	5.37:g.7900161T>C	ENSP00000264668:p.Ile723Thr		7953161	NM_002454	O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	37	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.249073	0.80024	.	.	ENSG00000124275	ENST00000264668;ENST00000440940	T;T	0.77750	-1.12;-1.12	5.71	5.71	0.89125	.	0.193981	0.53938	D	0.000048	T	0.77980	0.4212	L	0.37466	1.105	0.80722	D	1	D	0.61080	0.989	P	0.51516	0.672	T	0.80986	-0.1137	10	0.87932	D	0	-20.5977	15.9924	0.80217	0.0:0.0:0.0:1.0	.	723	Q9UBK8	MTRR_HUMAN	T	723;696	ENSP00000264668:I723T;ENSP00000402510:I696T	ENSP00000264668:I723T	I	+	2	0	MTRR	7953161	1.000000	0.71417	0.986000	0.45419	0.987000	0.75469	7.215000	0.77966	2.187000	0.69744	0.533000	0.62120	ATT		0.338	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1		
SEMA5A	9037	hgsc.bcm.edu	37	5	9054255	9054255	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:9054255T>C	ENST00000382496.5	-	19	3298	c.2633A>G	c.(2632-2634)gAc>gGc	p.D878G	MIR4636_ENST00000582271.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	878	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.D878G(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CAGGCAGATGTCCCCTCCATA	0.587																																					p.D878G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2633G	5						.						65.0	62.0	63.0					5																	9054255		2203	4300	6503	9107255	SO:0001583	missense	9037	exon19			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2633A>G	5.37:g.9054255T>C	ENSP00000371936:p.Asp878Gly		9107255	NM_003966	D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.693558	0.88735	.	.	ENSG00000112902	ENST00000382496	T	0.50001	0.76	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.49575	0.1565	L	0.33245	0.995	0.80722	D	1	P	0.49447	0.924	P	0.53760	0.734	T	0.41215	-0.9521	10	0.33141	T	0.24	.	14.0127	0.64507	0.0:0.0:0.0:1.0	.	878	Q13591	SEM5A_HUMAN	G	878	ENSP00000371936:D878G	ENSP00000371936:D878G	D	-	2	0	SEMA5A	9107255	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.633000	0.83260	2.254000	0.74563	0.459000	0.35465	GAC		0.587	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2		
SEMA5A	9037	hgsc.bcm.edu	37	5	9154717	9154717	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:9154717C>T	ENST00000382496.5	-	12	2029	c.1364G>A	c.(1363-1365)cGg>cAg	p.R455Q		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	455	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.R455Q(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GGGCTCCCTCCGCCTCTCAGG	0.567																																					p.R455Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1364A	5						.						90.0	88.0	89.0					5																	9154717		2203	4300	6503	9207717	SO:0001583	missense	9037	exon12			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1364G>A	5.37:g.9154717C>T	ENSP00000371936:p.Arg455Gln		9207717	NM_003966	D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	9.549	1.115428	0.20795	.	.	ENSG00000112902	ENST00000382496	T	0.35236	1.32	5.47	1.09	0.20402	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.304968	0.35838	N	0.002946	T	0.21145	0.0509	L	0.28556	0.865	0.30411	N	0.779046	B	0.06786	0.001	B	0.13407	0.009	T	0.15350	-1.0440	10	0.21540	T	0.41	.	6.8106	0.23802	0.0:0.4734:0.0:0.5266	.	455	Q13591	SEM5A_HUMAN	Q	455	ENSP00000371936:R455Q	ENSP00000371936:R455Q	R	-	2	0	SEMA5A	9207717	0.569000	0.26643	0.543000	0.28128	0.510000	0.34073	0.814000	0.27239	0.285000	0.22329	-0.186000	0.12905	CGG		0.567	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2		
SEMA5A	9037	hgsc.bcm.edu	37	5	9226982	9226982	+	Splice_Site	SNP	G	G	A	rs200596771		TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:9226982G>A	ENST00000382496.5	-	7	1096	c.431C>T	c.(430-432)tCg>tTg	p.S144L		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	144	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.S144L(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AAGCCATACCGAGCGGTTGGT	0.443																																					p.S144L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C431T	5						.	G	LEU/SER	0,4406		0,0,2203	57.0	61.0	60.0		431	4.9	1.0	5		60	1,8599	1.2+/-3.3	0,1,4299	yes	missense-near-splice	SEMA5A	NM_003966.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	144/1075	9226982	1,13005	2203	4300	6503	9279982	SO:0001630	splice_region_variant	9037	exon7			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.432+1C>T	5.37:g.9226982G>A			9279982	NM_003966	D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560400	0.65538	0.0	1.16E-4	ENSG00000112902	ENST00000382496;ENST00000513968	T;T	0.11063	2.81;2.81	4.93	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.111073	0.64402	D	0.000009	T	0.12603	0.0306	L	0.42245	1.32	0.47183	D	0.999349	B	0.24132	0.098	B	0.29663	0.105	T	0.04041	-1.0982	10	0.51188	T	0.08	.	14.0076	0.64473	0.0:0.0:1.0:0.0	.	144	Q13591	SEM5A_HUMAN	L	144	ENSP00000371936:S144L;ENSP00000421961:S144L	ENSP00000371936:S144L	S	-	2	0	SEMA5A	9279982	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.972000	0.70448	2.450000	0.82876	0.655000	0.94253	TCG		0.443	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2		Missense_Mutation
SLC1A3	6507	hgsc.bcm.edu	37	5	36679899	36679899	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:36679899A>C	ENST00000265113.4	+	7	1507	c.1031A>C	c.(1030-1032)aAc>aCc	p.N344T	SLC1A3_ENST00000381918.3_Missense_Mutation_p.N344T|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	344					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.N344T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACACGGAAAAACCCTTGGGTT	0.483																																					p.N344T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1031C	5						.						138.0	121.0	127.0					5																	36679899		2203	4300	6503	36715656	SO:0001583	missense	6507	exon6				CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.1031A>C	5.37:g.36679899A>C	ENSP00000265113:p.Asn344Thr		36715656	NM_001166695	B2R5T3|Q4JCQ8	Missense_Mutation	SNP	ENST00000265113.4	37	CCDS3919.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.732204	0.89482	.	.	ENSG00000079215	ENST00000265113;ENST00000427100;ENST00000381918	T;T	0.63417	-0.04;-0.04	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.81870	0.4914	M	0.86343	2.81	0.58432	D	0.999999	P;D	0.76494	0.767;0.999	P;D	0.79108	0.574;0.992	D	0.85345	0.1098	10	0.87932	D	0	-23.1393	15.9844	0.80138	1.0:0.0:0.0:0.0	.	344;344	Q4JCQ8;P43003	.;EAA1_HUMAN	T	344;292;344	ENSP00000265113:N344T;ENSP00000371343:N344T	ENSP00000265113:N344T	N	+	2	0	SLC1A3	36715656	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.332000	0.96446	2.179000	0.69175	0.459000	0.35465	AAC		0.483	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172	
C6	729	hgsc.bcm.edu	37	5	41154097	41154097	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:41154097G>A	ENST00000263413.3	-	15	2369	c.2105C>T	c.(2104-2106)aCg>aTg	p.T702M	C6_ENST00000337836.5_Missense_Mutation_p.T702M	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	702	C5b-binding domain.|CCP 2.|Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.T702M(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GATGCACTCCGTCCCTGCAAG	0.403																																					p.T702M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2105T	5						.						89.0	81.0	84.0					5																	41154097		2203	4300	6503	41189854	SO:0001583	missense	729	exon15			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2105C>T	5.37:g.41154097G>A	ENSP00000263413:p.Thr702Met		41189854	NM_000065		Missense_Mutation	SNP	ENST00000263413.3	37	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	g	10.11	1.259809	0.23051	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.42900	0.96;0.96	5.59	-0.32	0.12721	Complement control module (3);Sushi/SCR/CCP (1);	0.748493	0.13116	N	0.412588	T	0.32496	0.0831	M	0.71581	2.175	0.09310	N	1	P	0.38767	0.646	B	0.24269	0.052	T	0.17561	-1.0365	10	0.66056	D	0.02	-0.9918	7.3148	0.26495	0.3523:0.1163:0.5314:0.0	.	702	P13671	CO6_HUMAN	M	702	ENSP00000338861:T702M;ENSP00000263413:T702M	ENSP00000263413:T702M	T	-	2	0	C6	41189854	0.000000	0.05858	0.031000	0.17742	0.734000	0.41952	0.378000	0.20569	0.010000	0.14839	-0.127000	0.14921	ACG		0.403	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1		
ITGA1	3672	hgsc.bcm.edu	37	5	52211303	52211303	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:52211303T>A	ENST00000282588.6	+	15	2325	c.1867T>A	c.(1867-1869)Tca>Aca	p.S623T		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	623					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)	p.S623T(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GCGTATTCCATCAGGTGGGGA	0.373																																					p.S623T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1867A	5						.						136.0	139.0	138.0					5																	52211303		2203	4300	6503	52247060	SO:0001583	missense	3672	exon15			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1867T>A	5.37:g.52211303T>A	ENSP00000282588:p.Ser623Thr		52247060	NM_181501	B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	T	13.75	2.329251	0.41197	.	.	ENSG00000213949	ENST00000282588	T	0.29655	1.56	5.31	5.31	0.75309	.	0.202510	0.44483	D	0.000444	T	0.29817	0.0745	L	0.46157	1.445	0.48395	D	0.999649	P	0.36789	0.57	B	0.34452	0.183	T	0.13602	-1.0503	10	0.87932	D	0	.	15.5561	0.76196	0.0:0.0:0.0:1.0	.	623	P56199	ITA1_HUMAN	T	623	ENSP00000282588:S623T	ENSP00000282588:S623T	S	+	1	0	ITGA1	52247060	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	5.632000	0.67819	2.135000	0.66039	0.528000	0.53228	TCA		0.373	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501	
CDC20B	166979	hgsc.bcm.edu	37	5	54468827	54468827	+	Start_Codon_SNP	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:54468827A>G	ENST00000381375.2	-	1	147	c.2T>C	c.(1-3)aTg>aCg	p.M1T	CDC20B_ENST00000296733.1_Start_Codon_SNP_p.M1T|MIR449B_ENST00000384995.1_RNA|CDC20B_ENST00000322374.6_Start_Codon_SNP_p.M1T|MIR449A_ENST00000362113.1_RNA|CDC20B_ENST00000334206.5_Start_Codon_SNP_p.M1T|MIR449C_ENST00000516047.1_RNA|CDC20B_ENST00000331730.3_Start_Codon_SNP_p.M1T			Q86Y33	CD20B_HUMAN	cell division cycle 20B	1								p.M1T(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)			TTTCCACTCCATCTCCGGCTG	0.567																																					p.M1T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2C	5						.						45.0	37.0	40.0					5																	54468827		2203	4300	6503	54504584	SO:0001582	initiator_codon_variant	166979	exon1			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.2T>C	5.37:g.54468827A>G	ENSP00000370781:p.Met1Thr		54504584	NM_001170402	B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	ENST00000381375.2	37	CCDS54852.1	.	.	.	.	.	.	.	.	.	.	A	15.92	2.974484	0.53720	.	.	ENSG00000164287	ENST00000334206;ENST00000296733;ENST00000381375;ENST00000322374;ENST00000331730	D;D;D;D;T	0.89196	-2.48;-2.48;-2.48;-2.48;1.57	4.89	3.73	0.42828	.	0.000000	0.51477	D	0.000098	D	0.82802	0.5116	.	.	.	0.35189	D	0.773219	P;B;B;B	0.37101	0.582;0.22;0.141;0.22	B;B;B;B	0.31686	0.134;0.062;0.028;0.062	D	0.85280	0.1061	9	0.87932	D	0	8.6789	9.603	0.39617	0.9153:0.0:0.0847:0.0	.	1;1;1;1	Q86Y33-4;Q86Y33-3;Q86Y33;Q86Y33-2	.;.;CD20B_HUMAN;.	T	1	ENSP00000335664:M1T;ENSP00000296733:M1T;ENSP00000370781:M1T;ENSP00000315720:M1T;ENSP00000330566:M1T	ENSP00000296733:M1T	M	-	2	0	CDC20B	54504584	1.000000	0.71417	0.972000	0.41901	0.262000	0.26303	2.749000	0.47492	0.885000	0.36088	0.477000	0.44152	ATG		0.567	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623	Missense_Mutation
SETD9	133383	hgsc.bcm.edu	37	5	56205482	56205482	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:56205482C>T	ENST00000285947.2	+	1	396	c.10C>T	c.(10-12)Cgt>Tgt	p.R4C	SETD9_ENST00000475908.1_Intron|SETD9_ENST00000541720.1_Missense_Mutation_p.R4C|AC008937.3_ENST00000453721.1_RNA	NM_153706.3	NP_714917.2	Q8NE22	SETD9_HUMAN	SET domain containing 9	4							methyltransferase activity (GO:0008168)	p.R4C(1)									CATGCCTGGCCGTCTGCTGCG	0.736																																					p.R4C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C10T	5						.						22.0	17.0	19.0					5																	56205482		2191	4281	6472	56241239	SO:0001583	missense	133383	exon1			BC036528	CCDS3972.1	5q11.2	2012-02-23	2012-02-23	2012-02-23	ENSG00000155542	ENSG00000155542			28508	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 35"""	C5orf35		20930037	Standard	NM_153706		Approved	MGC33648	uc003jqx.3	Q8NE22	OTTHUMG00000059485	ENST00000285947.2:c.10C>T	5.37:g.56205482C>T	ENSP00000285947:p.Arg4Cys		56241239	NM_001171990	F5H713	Missense_Mutation	SNP	ENST00000285947.2	37	CCDS3972.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845227	0.32606	.	.	ENSG00000155542	ENST00000285947;ENST00000541720	T;T	0.32988	1.43;1.43	4.71	-1.68	0.08212	.	0.737586	0.12999	N	0.421828	T	0.17152	0.0412	L	0.36672	1.1	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.22243	-1.0222	10	0.49607	T	0.09	2.7651	0.541	0.00645	0.2356:0.2276:0.2976:0.2392	.	4	Q8NE22	CE035_HUMAN	C	4	ENSP00000285947:R4C;ENSP00000442886:R4C	ENSP00000285947:R4C	R	+	1	0	C5orf35	56241239	0.201000	0.23410	0.056000	0.19401	0.164000	0.22412	0.337000	0.19841	-0.206000	0.10203	0.561000	0.74099	CGT		0.736	SETD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132304.2	NM_153706	
PLK2	10769	hgsc.bcm.edu	37	5	57751168	57751168	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:57751168T>C	ENST00000274289.3	-	12	1999	c.1699A>G	c.(1699-1701)Agt>Ggt	p.S567G	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	567	POLO box 1. {ECO:0000255|PROSITE- ProRule:PRU00154}.				G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.S567G(1)		endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GTCACTTGACTAATAAATTGC	0.433																																					p.S567G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1699G	5						.						116.0	116.0	116.0					5																	57751168		2203	4300	6503	57786925	SO:0001583	missense	10769	exon12				CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1699A>G	5.37:g.57751168T>C	ENSP00000274289:p.Ser567Gly		57786925	NM_006622	O60679|Q96CV7|Q9UE61	Missense_Mutation	SNP	ENST00000274289.3	37	CCDS3974.1	.	.	.	.	.	.	.	.	.	.	T	8.930	0.963169	0.18583	.	.	ENSG00000145632	ENST00000274289	T	0.12255	2.7	5.8	5.8	0.92144	POLO box duplicated domain (2);	0.038026	0.85682	D	0.000000	T	0.08044	0.0201	N	0.05467	-0.045	0.48341	D	0.999637	B	0.02656	0.0	B	0.11329	0.006	T	0.31364	-0.9946	10	0.12430	T	0.62	-19.0152	16.1499	0.81605	0.0:0.0:0.0:1.0	.	567	Q9NYY3	PLK2_HUMAN	G	567	ENSP00000274289:S567G	ENSP00000274289:S567G	S	-	1	0	PLK2	57786925	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.687000	0.68219	2.220000	0.72140	0.533000	0.62120	AGT		0.433	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622	
CWC27	10283	hgsc.bcm.edu	37	5	64100159	64100159	+	Missense_Mutation	SNP	C	C	T	rs149929520	byFrequency	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:64100159C>T	ENST00000381070.3	+	10	1101	c.884C>T	c.(883-885)gCg>gTg	p.A295V	CWC27_ENST00000508024.1_Missense_Mutation_p.A295V	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	295					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.A295V(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						GACACAAGTGCGAATGTTAAA	0.378																																					p.A295V												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C884T	5						.	C	VAL/ALA	0,4406		0,0,2203	70.0	71.0	71.0		884	1.1	0.0	5	dbSNP_134	71	3,8597	3.0+/-9.4	0,3,4297	yes	missense	CWC27	NM_005869.2	64	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign	295/473	64100159	3,13003	2203	4300	6503	64135915	SO:0001583	missense	10283	exon10			AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 10"""	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.884C>T	5.37:g.64100159C>T	ENSP00000370460:p.Ala295Val		64135915	NM_005869	O60529|O60530|Q96EM3	Missense_Mutation	SNP	ENST00000381070.3	37	CCDS3982.2	.	.	.	.	.	.	.	.	.	.	C	5.539	0.284408	0.10513	0.0	3.49E-4	ENSG00000153015	ENST00000381070;ENST00000508024;ENST00000538793	T;T	0.47528	0.84;0.84	5.65	1.07	0.20283	.	0.708988	0.14012	N	0.347368	T	0.20333	0.0489	N	0.08118	0	0.09310	N	1	B;B;B;B	0.26975	0.165;0.001;0.129;0.093	B;B;B;B	0.18561	0.014;0.001;0.022;0.008	T	0.10753	-1.0616	10	0.30078	T	0.28	.	3.1218	0.06393	0.3485:0.3143:0.257:0.0803	.	295;295;295;295	Q6UX04-2;Q6UX04;F5H636;D6REK3	.;CWC27_HUMAN;.;.	V	295	ENSP00000370460:A295V;ENSP00000426802:A295V	ENSP00000370460:A295V	A	+	2	0	CWC27	64135915	0.017000	0.18338	0.015000	0.15790	0.121000	0.20230	-0.190000	0.09615	0.383000	0.24910	0.563000	0.77884	GCG		0.378	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	NM_005869	
HEXB	3074	hgsc.bcm.edu	37	5	74009342	74009342	+	Silent	SNP	T	T	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:74009342T>G	ENST00000261416.7	+	7	900	c.783T>G	c.(781-783)tcT>tcG	p.S261S	HEXB_ENST00000511181.1_Silent_p.S36S	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	261					astrocyte cell migration (GO:0043615)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|ganglioside catabolic process (GO:0006689)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|lipid storage (GO:0019915)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|male courtship behavior (GO:0008049)|myelination (GO:0042552)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|oogenesis (GO:0048477)|penetration of zona pellucida (GO:0007341)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S261S(1)		endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		GAAGCTATTCTTTGTCTCATG	0.363																																					p.S261S	Melanoma(66;841 1270 13391 18706 27225)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T783G	5						.						145.0	144.0	144.0					5																	74009342		2203	4300	6503	74045098	SO:0001819	synonymous_variant	3074	exon7			M13519	CCDS4022.1	5q13.3	2012-10-02			ENSG00000049860	ENSG00000049860	3.2.1.52		4879	protein-coding gene	gene with protein product		606873				2579389, 3013851	Standard	NM_000521		Approved		uc003kdf.4	P07686	OTTHUMG00000102057	ENST00000261416.7:c.783T>G	5.37:g.74009342T>G			74045098	NM_000521		Silent	SNP	ENST00000261416.7	37	CCDS4022.1																																																																																				0.363	HEXB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219859.6	NM_000521	
CAST	831	hgsc.bcm.edu	37	5	96082060	96082060	+	Silent	SNP	A	A	G			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:96082060A>G	ENST00000341926.3	+	15	1128	c.966A>G	c.(964-966)gaA>gaG	p.E322E	CAST_ENST00000508830.1_Silent_p.E405E|CAST_ENST00000309190.5_Silent_p.E300E|CAST_ENST00000510756.1_Silent_p.E383E|CAST_ENST00000508608.1_Silent_p.E368E|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000338252.3_Silent_p.E309E|CAST_ENST00000511782.1_Silent_p.E308E|CAST_ENST00000504465.1_Silent_p.E250E|CAST_ENST00000359176.4_Silent_p.E386E|CAST_ENST00000325674.7_Silent_p.E370E|CAST_ENST00000395812.2_Silent_p.E364E|CAST_ENST00000395813.1_Silent_p.E405E|CAST_ENST00000508579.1_Silent_p.E37E|CAST_ENST00000509903.1_Silent_p.E287E|CAST_ENST00000515663.1_Silent_p.E45E|CAST_ENST00000511049.1_Silent_p.E308E			P20810	ICAL_HUMAN	calpastatin	322					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)	p.E300E(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		AAGCTAAAGAAGAAAAACTAG	0.388																																					p.E300E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A900G	5						.						101.0	102.0	101.0					5																	96082060		2203	4300	6503	96107816	SO:0001819	synonymous_variant	831	exon14			AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.966A>G	5.37:g.96082060A>G			96107816	NM_173060	B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Silent	SNP	ENST00000341926.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.674|9.674	1.147372|1.147372	0.21288|0.21288	.|.	.|.	ENSG00000153113|ENSG00000153113	ENST00000437034|ENST00000510500	.|.	.|.	.|.	6.17|6.17	1.22|1.22	0.21188|0.21188	.|.	.|.	.|.	.|.	.|.	T|T	0.55832|0.55832	0.1945|0.1945	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.47699|0.47699	-0.9097|-0.9097	4|4	.|.	.|.	.|.	-35.0566|-35.0566	8.5894|8.5894	0.33677|0.33677	0.7022:0.0:0.2978:0.0|0.7022:0.0:0.2978:0.0	.|.	.|.	.|.	.|.	R|G	74|80	.|.	.|.	K|R	+|+	2|1	0|2	CAST|CAST	96107816|96107816	0.994000|0.994000	0.37717|0.37717	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	0.186000|0.186000	0.16978|0.16978	0.225000|0.225000	0.20959|0.20959	0.533000|0.533000	0.62120|0.62120	AAG|AGA		0.388	CAST-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000250199.2	NM_173062	
BTNL9	153579	hgsc.bcm.edu	37	5	180472534	180472534	+	Silent	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr5:180472534G>A	ENST00000327705.9	+	2	276	c.45G>A	c.(43-45)tcG>tcA	p.S15S	BTNL9_ENST00000515271.1_Intron|BTNL9_ENST00000376842.3_Silent_p.S15S|BTNL9_ENST00000376841.2_Silent_p.S15S	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	15						integral component of membrane (GO:0016021)		p.S15S(1)		breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCCAGTATCGCTGACCAGCA	0.597																																					p.S15S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G45A	5						.						127.0	108.0	114.0					5																	180472534		2203	4299	6502	180405140	SO:0001819	synonymous_variant	153579	exon2			AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.45G>A	5.37:g.180472534G>A			180405140	NM_152547	A6NL42|Q6P660|Q96DM5	Silent	SNP	ENST00000327705.9	37	CCDS4460.2																																																																																				0.597	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547	
BROX	148362	hgsc.bcm.edu	37	1	222902084	222902084	+	Splice_Site	SNP	G	G	T			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr1:222902084G>T	ENST00000340934.5	+	9	1076		c.e9-1		BROX_ENST00000537020.1_Splice_Site|BROX_ENST00000539697.1_Splice_Site	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing							extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.?(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						TGTAACTTTAGATCATACTTT	0.328																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						80.0	81.0	81.0					1																	222902084		2203	4297	6500	220968707	SO:0001630	splice_region_variant	148362	.				CCDS1534.1, CCDS73036.1, CCDS73037.1	1q41	2010-11-30	2010-11-30	2010-11-30	ENSG00000162819	ENSG00000162819			26512	protein-coding gene	gene with protein product	"""BRO1 domain containing protein"""		"""chromosome 1 open reading frame 58"""	C1orf58		18190528	Standard	XM_005273065		Approved	FLJ32421	uc001hnq.1	Q5VW32	OTTHUMG00000037650	ENST00000340934.5:c.671-1G>T	1.37:g.222902084G>T			220968707	.	B7Z9G5|Q96MG1	Splice_Site	SNP	ENST00000340934.5	37	CCDS1534.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589962	0.86851	.	.	ENSG00000162819	ENST00000340934;ENST00000537020;ENST00000539697	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1951	0.98241	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BROX	220968707	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.320000	0.96346	2.780000	0.95670	0.585000	0.79938	.		0.328	BROX-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091815.2	NM_144695	Intron
THOC6	79228	hgsc.bcm.edu	37	16	3077075	3077075	+	Splice_Site	SNP	G	G	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr16:3077075G>A	ENST00000326266.8	+	10	995		c.e10+1		THOC6_ENST00000253952.9_Splice_Site|THOC6_ENST00000575576.1_Splice_Site|HCFC1R1_ENST00000354679.3_5'Flank|HCFC1R1_ENST00000248089.3_5'Flank|HCFC1R1_ENST00000574980.1_5'Flank|HCFC1R1_ENST00000572355.1_5'Flank|HCFC1R1_ENST00000396916.1_5'Flank|THOC6_ENST00000574549.1_Splice_Site	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)						apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	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.?(1)		central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						CGACTGGATGGTGAGCTGGGC	0.617																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	16						.						92.0	90.0	91.0					16																	3077075		2198	4300	6498	3017076	SO:0001630	splice_region_variant	79228	.			BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"""WD repeat domain containing"", ""THO complex subunits"""	28369	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 35"""	615403	"""WD repeat domain 58"""	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.699+1G>A	16.37:g.3077075G>A			3017076	.	B2RA85|Q8NBR1|Q9BTV9	Splice_Site	SNP	ENST00000326266.8	37	CCDS10491.1	.	.	.	.	.	.	.	.	.	.	G	9.924	1.213091	0.22289	.	.	ENSG00000131652	ENST00000326266;ENST00000253952	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3052	0.73987	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	THOC6	3017076	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	8.148000	0.89630	2.215000	0.71742	0.462000	0.41574	.		0.617	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1	NM_024339	Intron
CFAP54	144535	hgsc.bcm.edu	37	12	97136255	97136255	+	Silent	SNP	T	T	A			TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3516-01A-02W-0833-10	TCGA-AA-3516-10A-01W-0833-10	g.chr12:97136255T>A	ENST00000524981.4	+	52	7133	c.7110T>A	c.(7108-7110)ccT>ccA	p.P2370P				Q96N23	CL055_HUMAN		0								p.P795P(1)									TTTTAGATCCTATTTCCCTAA	0.363																																					.												.	.	1	Substitution - coding silent(1)	large_intestine(1)	.	12						.						77.0	75.0	76.0					12																	97136255		2202	4299	6501	95660386	SO:0001819	synonymous_variant	374467	.																														ENST00000524981.4:c.7110T>A	12.37:g.97136255T>A			95660386	.		Silent	SNP	ENST00000524981.4	37																																																																																					0.363	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4		
