#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_TranscriptID	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
CELA1	1990	hgsc.bcm.edu	37	12	51723598	51723599	+	Frame_Shift_Ins	INS	-	-	G	rs398102298|rs76813052|rs17860363|rs75442020	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:51723598_51723599insG	ENST00000293636.1	-	7	668_669	c.628_629insC	c.(628-630)ctcfs	p.L210fs		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	210	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.L210fs*24(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CAAGCAATGGAGGGGGCCCCCA	0.564													GGGGG|GGGGG|GGGGGG|insertion	729	0.145567	0.084	0.1772	5008	,	,		16900	0.0407		0.2863	False		,,,				2504	0.1697				p.L210fs												.	.	1	Insertion - Frameshift(1)	ovary(1)	c.629_630insC	12						.			562,3700		35,492,1604						5.4	0.2		dbSNP_123	63	2566,5688		406,1754,1967	no	frameshift	CELA1	NM_001971.5		441,2246,3571	A1A1,A1R,RR		31.088,13.1863,24.992				3128,9388				50009866	SO:0001589	frameshift_variant	1990	exon7				CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610			3308	protein-coding gene	gene with protein product		130120	"""elastase 1, pancreatic"""	ELA1			Standard	NM_001971		Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523	ENST00000293636.1:c.629dupC	12.37:g.51723603_51723603dupG	ENSP00000293636:p.Leu210fs	Somatic		Capture	SOLID	Phase_I	50009865	NM_001971	Q5MLF0|Q6DJT0|Q6ISM6	Frame_Shift_Ins	INS	ENST00000293636.1	37	CCDS8812.1																																																																																				0.564	CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394901.1	NM_001971	
ETNK2	55224	hgsc.bcm.edu	37	1	204106328	204106329	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:204106328_204106329insA	ENST00000367202.4	-	6	1067_1068	c.917_918insT	c.(916-918)ctgfs	p.L306fs	ETNK2_ENST00000477125.1_5'Flank|ETNK2_ENST00000367201.3_Frame_Shift_Ins_p.L306fs|ETNK2_ENST00000367198.2_Frame_Shift_Ins_p.L128fs|ETNK2_ENST00000367197.1_5'UTR|ETNK2_ENST00000367199.2_Frame_Shift_Ins_p.L237fs	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	306					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)	p.Q307fs*35(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GCAGCCACTGCAGCTGGGTCTC	0.609																																					p.L306fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.918_919insT	1						.																																			202372952	SO:0001589	frameshift_variant	55224	exon6			AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845			25575	protein-coding gene	gene with protein product		609859				12477932	Standard	XM_005245302		Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.918dupT	1.37:g.204106329_204106329dupA	ENSP00000356170:p.Leu306fs	Somatic		Capture	SOLID	Phase_I	202372951	NM_018208	B7Z7K1|Q5SXX5|Q68CK3|Q96G05	Frame_Shift_Ins	INS	ENST00000367202.4	37	CCDS1442.2																																																																																				0.609	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087893.1	NM_018208	
FAM73A	374986	hgsc.bcm.edu	37	1	78332058	78332059	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:78332058_78332059insA	ENST00000370791.3	+	14	1577_1578	c.1545_1546insA	c.(1546-1548)aaafs	p.K516fs	FAM73A_ENST00000443751.2_Frame_Shift_Ins_p.K478fs	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	516						integral component of membrane (GO:0016021)		p.R517fs*19(1)		breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TGCTGAAACAGAAAAGACAACA	0.351																																					p.Q515fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1545_1546insA	1						.																																			78104647	SO:0001589	frameshift_variant	374986	exon14				CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.1549dupA	1.37:g.78332062_78332062dupA	ENSP00000359827:p.Lys516fs	Somatic		Capture	SOLID	Phase_I	78104646	NM_198549	Q6MZG0	Frame_Shift_Ins	INS	ENST00000370791.3	37	CCDS681.1																																																																																				0.351	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549	
RAI2	10742	hgsc.bcm.edu	37	X	17819302	17819303	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:17819302_17819303insA	ENST00000545871.1	-	3	1288_1289	c.828_829insT	c.(826-831)tttaaafs	p.K277fs	RAI2_ENST00000415486.3_Frame_Shift_Ins_p.K227fs|RAI2_ENST00000451717.1_Frame_Shift_Ins_p.K277fs|RAI2_ENST00000360011.1_Frame_Shift_Ins_p.K277fs|RAI2_ENST00000331511.1_Frame_Shift_Ins_p.K277fs	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	277					embryo development (GO:0009790)			p.K277fs*1(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					TGGGTGCCTTTAAAGGGGTGCA	0.535																																					p.K277_G278delinsX												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.829_830insT	X						.																																			17729224	SO:0001589	frameshift_variant	10742	exon2			Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.829dupT	X.37:g.17819305_17819305dupA	ENSP00000444210:p.Lys277fs	Somatic		Capture	SOLID	Phase_I	17729223	NM_021785	B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Frame_Shift_Ins	INS	ENST00000545871.1	37	CCDS14183.1																																																																																				0.535	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785	
GCKR	2646	hgsc.bcm.edu	37	2	27730169	27730170	+	Frame_Shift_Ins	INS	-	-	A	rs573498430	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:27730169_27730170insA	ENST00000264717.2	+	13	1197_1198	c.1134_1135insA	c.(1135-1137)accfs	p.T379fs	GCKR_ENST00000424318.2_Frame_Shift_Ins_p.T189fs	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	379	SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					AGGCTGAGCTCACCAACCAGGT	0.52													A|A|AA|insertion	3	0.000599042	0.0008	0.0	5008	,	,		20054	0.0		0.002	False		,,,				2504	0.0				p.L378fs												.	.	0			c.1134_1135insA	2						.			1,4265		0,1,2132						0.6	0.7			159	27,8223		0,27,4098	no	frameshift	GCKR	NM_001486.3		0,28,6230	A1A1,A1R,RR		0.3273,0.0234,0.2237				28,12488				27583674	SO:0001589	frameshift_variant	2646	exon13			Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.1135dupA	2.37:g.27730170_27730170dupA	ENSP00000264717:p.Thr379fs	Somatic		Capture	SOLID	Phase_I	27583673	NM_001486	A1L4C2|B4DPQ2|Q53RY6|Q99522	Frame_Shift_Ins	INS	ENST00000264717.2	37	CCDS1757.1																																																																																				0.520	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486	
ADAM28	10863	hgsc.bcm.edu	37	8	24167472	24167473	+	Frame_Shift_Ins	INS	-	-	A	rs570442888	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:24167472_24167473insA	ENST00000265769.4	+	3	326_327	c.216_217insA	c.(217-219)aaafs	p.K73fs	ADAM28_ENST00000437154.2_Frame_Shift_Ins_p.K73fs|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000523700.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	73					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N75fs*15(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGCTTTATTTGAAAAAAAACAA	0.332													AAAAAAAA|AAAAAAAA|AAAAAAAAA|insertion	2	0.000399361	0.0	0.0	5008	,	,		18919	0.0		0.0	False		,,,				2504	0.002				p.L72fs	NSCLC(193;488 2149 22258 34798 40734)											.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.216_217insA	8						.																																			24223418	SO:0001589	frameshift_variant	10863	exon3			AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.224dupA	8.37:g.24167480_24167480dupA	ENSP00000265769:p.Lys73fs	Somatic		Capture	SOLID	Phase_I	24223417	NM_014265	B2RMV5|Q9Y339|Q9Y3S0	Frame_Shift_Ins	INS	ENST00000265769.4	37	CCDS34865.1																																																																																				0.332	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778	
RELN	5649	hgsc.bcm.edu	37	7	103185592	103185592	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr7:103185592A>C	ENST00000428762.1	-	42	6661	c.6502T>G	c.(6502-6504)Ttt>Gtt	p.F2168V	RELN_ENST00000424685.2_Missense_Mutation_p.F2168V|RELN_ENST00000343529.5_Missense_Mutation_p.F2168V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2168					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.F2168V(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)		TCTTTGAGAAAATCAGGATTT	0.353																																					p.F2168V	NSCLC(146;835 1944 15585 22231 52158)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T6502G	7						.						116.0	118.0	118.0					7																	103185592		2203	4300	6503	102972828	SO:0001583	missense	5649	exon42				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.6502T>G	7.37:g.103185592A>C	ENSP00000392423:p.Phe2168Val	Somatic		Capture	SOLID	Phase_I	102972828	NM_005045	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	18.61	3.660767	0.67700	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.24723	1.84;1.84;1.84	5.5	5.5	0.81552	Neuraminidase (1);	0.104410	0.64402	D	0.000002	T	0.31606	0.0802	L	0.53249	1.67	0.58432	D	0.999999	B;B	0.33379	0.156;0.41	B;B	0.39840	0.311;0.175	T	0.04242	-1.0966	10	0.29301	T	0.29	.	15.8953	0.79329	1.0:0.0:0.0:0.0	.	2168;2168	P78509-2;P78509	.;RELN_HUMAN	V	2168	ENSP00000392423:F2168V;ENSP00000345694:F2168V;ENSP00000388446:F2168V	ENSP00000345694:F2168V	F	-	1	0	RELN	102972828	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.637000	0.91014	2.216000	0.71823	0.402000	0.26972	TTT		0.353	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
SLC26A4	5172	hgsc.bcm.edu	37	7	107334925	107334925	+	Splice_Site	SNP	G	G	A	rs397516417		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr7:107334925G>A	ENST00000265715.3	+	11	1565	c.1341G>A	c.(1339-1341)aaG>aaA	p.K447K	SLC26A4_ENST00000541474.1_Intron|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000544569.1_Splice_Site_p.K34K|SLC26A4_ENST00000543100.1_Splice_Site_p.K16K	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	447					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.K447K(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CCTTGCAGAAGGTATAACCCT	0.463									Pendred syndrome																												p.K447K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1341A	7						.						173.0	153.0	160.0					7																	107334925		2203	4300	6503	107122161	SO:0001630	splice_region_variant	5172	exon11	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1341+1G>A	7.37:g.107334925G>A		Somatic		Capture	SOLID	Phase_I	107122161	NM_000441	B7Z266|O43170	Silent	SNP	ENST00000265715.3	37	CCDS5746.1																																																																																				0.463	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441	Silent
LAMB4	22798	hgsc.bcm.edu	37	7	107678014	107678014	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr7:107678014C>T	ENST00000388781.3	-	30	4581	c.4498G>A	c.(4498-4500)Gag>Aag	p.E1500K	LAMB4_ENST00000483484.1_5'Flank|LAMB4_ENST00000205386.4_Missense_Mutation_p.E1500K|AC005048.1_ENST00000401266.1_RNA|LAMB4_ENST00000388780.3_Missense_Mutation_p.E1500K	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1500	Domain I.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.E1500K(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GCAACCTTCTCGATGTCTTCT	0.383																																					p.E1500K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4498A	7						.						190.0	178.0	182.0					7																	107678014		2203	4300	6503	107465250	SO:0001583	missense	22798	exon30			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.4498G>A	7.37:g.107678014C>T	ENSP00000373433:p.Glu1500Lys	Somatic		Capture	SOLID	Phase_I	107465250	NM_007356	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922815	0.92319	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.33654	1.4;1.4;1.75;1.43	4.85	4.85	0.62838	.	0.000000	0.48767	D	0.000168	T	0.52075	0.1712	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.83275	0.875;0.996	T	0.39981	-0.9587	10	0.34782	T	0.22	.	15.3359	0.74255	0.0:1.0:0.0:0.0	.	1500;1500	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	K	1500;1500;526;1500	ENSP00000205386:E1500K;ENSP00000373433:E1500K;ENSP00000416562:E526K;ENSP00000373432:E1500K	ENSP00000205386:E1500K	E	-	1	0	LAMB4	107465250	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.361000	0.34136	2.674000	0.91012	0.655000	0.94253	GAG		0.383	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	
LAMB4	22798	hgsc.bcm.edu	37	7	107706318	107706318	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr7:107706318G>A	ENST00000388781.3	-	21	2808	c.2725C>T	c.(2725-2727)Cgt>Tgt	p.R909C	LAMB4_ENST00000205386.4_Missense_Mutation_p.R909C|LAMB4_ENST00000388780.3_Missense_Mutation_p.R909C	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	909	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.R909C(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AGGCAAGGACGACAGGGCTGT	0.418																																					p.R909C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2725T	7						.						158.0	152.0	154.0					7																	107706318		2203	4300	6503	107493554	SO:0001583	missense	22798	exon21			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.2725C>T	7.37:g.107706318G>A	ENSP00000373433:p.Arg909Cys	Somatic		Capture	SOLID	Phase_I	107493554	NM_007356	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634964	0.67130	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780	T;T;T	0.64991	-0.13;-0.13;-0.13	4.91	2.0	0.26442	EGF-like, laminin (3);	0.430470	0.19454	N	0.113869	T	0.60881	0.2303	M	0.83118	2.625	0.40336	D	0.978989	B	0.22346	0.068	B	0.15052	0.012	T	0.62937	-0.6748	10	0.87932	D	0	.	7.9857	0.30210	0.1465:0.1313:0.7222:0.0	.	909	A4D0S4	LAMB4_HUMAN	C	909	ENSP00000205386:R909C;ENSP00000373433:R909C;ENSP00000373432:R909C	ENSP00000205386:R909C	R	-	1	0	LAMB4	107493554	0.773000	0.28580	0.604000	0.28916	0.981000	0.71138	1.816000	0.38992	0.676000	0.31285	0.563000	0.77884	CGT		0.418	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	
THAP5	168451	hgsc.bcm.edu	37	7	108204963	108204963	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr7:108204963G>T	ENST00000415914.3	-	3	1013	c.860C>A	c.(859-861)tCt>tAt	p.S287Y	THAP5_ENST00000313516.5_Missense_Mutation_p.S245Y|THAP5_ENST00000493722.1_5'UTR	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	287					cell cycle (GO:0007049)|negative regulation of cell cycle (GO:0045786)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protease binding (GO:0002020)	p.S125Y(2)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						AGATATAAAAGAATTAACTGA	0.328																																					p.S245Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C734A	7						.						88.0	93.0	91.0					7																	108204963		2203	4300	6503	107992199	SO:0001583	missense	168451	exon3			AL833137	CCDS34734.2, CCDS47687.1	7q22.3	2013-01-25			ENSG00000177683	ENSG00000177683		"""THAP (C2CH-type zinc finger) domain containing"""	23188	protein-coding gene	gene with protein product		612534				12575992	Standard	NM_001287598		Approved	DKFZp313O1132	uc003vfm.3	Q7Z6K1	OTTHUMG00000154951	ENST00000415914.3:c.860C>A	7.37:g.108204963G>T	ENSP00000400500:p.Ser287Tyr	Somatic		Capture	SOLID	Phase_I	107992199	NM_182529		Missense_Mutation	SNP	ENST00000415914.3	37	CCDS47687.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855547	0.51376	.	.	ENSG00000177683	ENST00000415914;ENST00000313516	D;D	0.97811	-4.55;-3.09	4.6	2.73	0.32206	.	0.560318	0.13536	U	0.380562	D	0.96984	0.9015	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.93623	0.6949	9	.	.	.	.	7.6582	0.28388	0.0898:0.1642:0.746:0.0	.	287	Q7Z6K1	THAP5_HUMAN	Y	287;245	ENSP00000400500:S287Y;ENSP00000322440:S245Y	.	S	-	2	0	THAP5	107992199	1.000000	0.71417	0.892000	0.35008	0.943000	0.58893	3.391000	0.52530	0.457000	0.26962	0.650000	0.86243	TCT		0.328	THAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337777.2	NM_182529	
PTPRZ1	5803	hgsc.bcm.edu	37	7	121682775	121682775	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr7:121682775G>T	ENST00000393386.2	+	22	6326	c.5915G>T	c.(5914-5916)aGa>aTa	p.R1972I	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.R1105I	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1972	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R1972I(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						CGTTCACAAAGAAATTATTTG	0.338																																					p.R1972I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5915T	7						.						105.0	99.0	101.0					7																	121682775		2203	4300	6503	121470011	SO:0001583	missense	5803	exon22			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.5915G>T	7.37:g.121682775G>T	ENSP00000377047:p.Arg1972Ile	Somatic		Capture	SOLID	Phase_I	121470011	NM_002851	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	33	5.291224	0.95546	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.53640	0.61;0.61	5.73	5.73	0.89815	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	D	0.000001	D	0.84370	0.5457	H	0.99682	4.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	D	0.91282	0.5052	10	0.87932	D	0	.	19.914	0.97034	0.0:0.0:1.0:0.0	.	1111;1105;1972	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	I	1972;1105	ENSP00000377047:R1972I;ENSP00000410000:R1105I	ENSP00000377047:R1972I	R	+	2	0	PTPRZ1	121470011	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.869000	0.99810	2.712000	0.92718	0.557000	0.71058	AGA		0.338	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851	
GPR37	2861	hgsc.bcm.edu	37	7	124386702	124386702	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr7:124386702C>T	ENST00000303921.2	-	2	2369	c.1719G>A	c.(1717-1719)caG>caA	p.Q573Q		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	573					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.Q573Q(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						TTGAAGACTTCTGAATGCATT	0.502																																					p.Q573Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1719A	7						.						149.0	125.0	133.0					7																	124386702		2203	4300	6503	124173938	SO:0001819	synonymous_variant	2861	exon2				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.1719G>A	7.37:g.124386702C>T		Somatic		Capture	SOLID	Phase_I	124173938	NM_005302	A4D0Y6|O00348|O14768|Q8TD39	Silent	SNP	ENST00000303921.2	37	CCDS5792.1																																																																																				0.502	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302	
POT1	25913	hgsc.bcm.edu	37	7	124482868	124482868	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr7:124482868G>T	ENST00000357628.3	-	13	1754	c.1156C>A	c.(1156-1158)Cat>Aat	p.H386N	POT1_ENST00000393329.1_Missense_Mutation_p.H255N	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	386					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)	p.H386N(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CACAGCAAATGACATTTAGGG	0.318																																					p.H255N	Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C763A	7						.						101.0	92.0	96.0					7																	124482868		2203	4300	6503	124270104	SO:0001583	missense	25913	exon12			AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.1156C>A	7.37:g.124482868G>T	ENSP00000350249:p.His386Asn	Somatic		Capture	SOLID	Phase_I	124270104	NM_001042594	O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	ENST00000357628.3	37	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	G	8.912	0.959056	0.18507	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000265391	T;T	0.41400	1.0;1.01	5.55	3.73	0.42828	.	0.457952	0.23881	N	0.043647	T	0.29321	0.0730	L	0.47716	1.5	0.26901	N	0.967101	B	0.11235	0.004	B	0.09377	0.004	T	0.29027	-1.0025	10	0.07990	T	0.79	-10.7703	7.2086	0.25921	0.0788:0.0:0.5162:0.405	.	386	Q9NUX5	POTE1_HUMAN	N	386;255;386;386;385	ENSP00000350249:H386N;ENSP00000377002:H255N	ENSP00000265391:H385N	H	-	1	0	POT1	124270104	1.000000	0.71417	0.987000	0.45799	0.985000	0.73830	1.517000	0.35867	0.686000	0.31488	0.591000	0.81541	CAT		0.318	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1		
SND1	27044	hgsc.bcm.edu	37	7	127334917	127334917	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr7:127334917G>T	ENST00000354725.3	+	3	458	c.264G>T	c.(262-264)aaG>aaT	p.K88N		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	88	TNase-like 1. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)	p.K88N(1)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TCCTTCGAAAGAAGCTGATTG	0.473																																					p.K88N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G264T	7						.						112.0	110.0	111.0					7																	127334917		2203	4300	6503	127122153	SO:0001583	missense	27044	exon3				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.264G>T	7.37:g.127334917G>T	ENSP00000346762:p.Lys88Asn	Somatic		Capture	SOLID	Phase_I	127122153	NM_014390	Q13122|Q96AG0	Missense_Mutation	SNP	ENST00000354725.3	37	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252617	0.80135	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.31510	1.49	5.64	5.64	0.86602	Staphylococcal nuclease (SNase-like) (4);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.043138	0.85682	D	0.000000	T	0.43919	0.1269	M	0.75150	2.29	0.80722	D	1	P	0.40681	0.727	P	0.49085	0.6	T	0.31251	-0.9950	10	0.42905	T	0.14	-27.898	10.6114	0.45423	0.087:0.0:0.913:0.0	.	88	Q7KZF4	SND1_HUMAN	N	88;78	ENSP00000346762:K88N	ENSP00000346762:K88N	K	+	3	2	SND1	127122153	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.712000	0.61888	2.676000	0.91093	0.563000	0.77884	AAG		0.473	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390	
FAM71F1	84691	hgsc.bcm.edu	37	7	128358910	128358910	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr7:128358910C>T	ENST00000315184.5	+	3	513	c.460C>T	c.(460-462)Ctc>Ttc	p.L154F	FAM71F1_ENST00000485070.1_Intron|FAM71F1_ENST00000469348.1_Intron	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	154								p.L154F(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						GTTTGTGGAGCTCCAGGTATG	0.478																																					p.L154F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C460T	7						.						249.0	222.0	231.0					7																	128358910		2203	4300	6503	128146146	SO:0001583	missense	84691	exon3			AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member A"""	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.460C>T	7.37:g.128358910C>T	ENSP00000326652:p.Leu154Phe	Somatic		Capture	SOLID	Phase_I	128146146	NM_032599	Q8IY75|Q8NA48	Missense_Mutation	SNP	ENST00000315184.5	37	CCDS5804.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636580	0.67130	.	.	ENSG00000135248	ENST00000315184;ENST00000466842	T;T	0.28666	1.6;1.6	4.58	3.7	0.42460	.	0.000000	0.47093	D	0.000260	T	0.50463	0.1617	M	0.71581	2.175	0.32708	N	0.512014	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.63088	-0.6715	10	0.87932	D	0	-11.3143	8.7834	0.34804	0.0:0.8965:0.0:0.1035	.	154;154;154	F8WC62;Q96KD3-2;Q96KD3	.;.;F71F1_HUMAN	F	154;10	ENSP00000326652:L154F;ENSP00000417930:L10F	ENSP00000326652:L154F	L	+	1	0	FAM71F1	128146146	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.594000	0.24014	1.291000	0.44653	0.585000	0.79938	CTC		0.478	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2	NM_032599	
OPN1SW	611	hgsc.bcm.edu	37	7	128414632	128414632	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr7:128414632A>G	ENST00000249389.2	-	3	606	c.607T>C	c.(607-609)Ttc>Ctc	p.F203L		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	203					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)	p.F203L(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						ATGAAGAGGAACCACGTATAG	0.542																																					p.F203L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T607C	7						.						156.0	131.0	139.0					7																	128414632		2203	4300	6503	128201868	SO:0001583	missense	611	exon3			U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"""GPCR / Class A : Opsin receptors"""	1012	protein-coding gene	gene with protein product	"""color blindness, tritan"", ""blue-sensitive opsin"""	613522	"""blue cone photoreceptor pigment"""	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.607T>C	7.37:g.128414632A>G	ENSP00000249389:p.Phe203Leu	Somatic		Capture	SOLID	Phase_I	128201868	NM_001708	Q13877	Missense_Mutation	SNP	ENST00000249389.2	37	CCDS5806.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.232260	0.79688	.	.	ENSG00000128617	ENST00000249389	T	0.36340	1.26	5.38	5.38	0.77491	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.38453	0.1041	L	0.56199	1.76	0.80722	D	1	B	0.22541	0.071	B	0.29785	0.107	T	0.30179	-0.9987	10	0.72032	D	0.01	.	13.3968	0.60858	1.0:0.0:0.0:0.0	.	203	P03999	OPSB_HUMAN	L	203	ENSP00000249389:F203L	ENSP00000249389:F203L	F	-	1	0	OPN1SW	128201868	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.096000	0.94182	2.261000	0.74972	0.533000	0.62120	TTC		0.542	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1	NM_001708	
STRIP2	57464	hgsc.bcm.edu	37	7	129122797	129122797	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr7:129122797C>T	ENST00000249344.2	+	20	2204	c.2164C>T	c.(2164-2166)Cgc>Tgc	p.R722C	RNU1-72P_ENST00000362976.1_RNA|STRIP2_ENST00000435494.2_Missense_Mutation_p.R722C	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	722					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)		p.R722C(1)									GTACCTGGGGCGCCAATGGAG	0.483																																					p.R722C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2164T	7						.						96.0	84.0	88.0					7																	129122797		2203	4300	6503	128910033	SO:0001583	missense	57464	exon20			AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.2164C>T	7.37:g.129122797C>T	ENSP00000249344:p.Arg722Cys	Somatic		Capture	SOLID	Phase_I	128910033	NM_001134336	Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524713	0.85600	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.62498	0.03;0.02	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.82921	0.5142	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.86451	0.1773	10	0.87932	D	0	-19.1221	13.3299	0.60480	0.1578:0.8422:0.0:0.0	.	722;722	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	C	722	ENSP00000249344:R722C;ENSP00000392393:R722C	ENSP00000249344:R722C	R	+	1	0	FAM40B	128910033	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.775000	0.62346	2.662000	0.90505	0.655000	0.94253	CGC		0.483	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336	
LRGUK	136332	hgsc.bcm.edu	37	7	133881756	133881756	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr7:133881756C>A	ENST00000285928.2	+	13	1513	c.1444C>A	c.(1444-1446)Cta>Ata	p.L482I		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	482	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.L482I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GAAATTCATTCTAACATTTAG	0.338																																					p.L482I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1444A	7						.						117.0	113.0	115.0					7																	133881756		2203	4300	6503	133532296	SO:0001583	missense	136332	exon13			AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.1444C>A	7.37:g.133881756C>A	ENSP00000285928:p.Leu482Ile	Somatic		Capture	SOLID	Phase_I	133532296	NM_144648	Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807838	0.31961	.	.	ENSG00000155530	ENST00000285928	T	0.41758	0.99	5.6	0.419	0.16438	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.472885	0.19152	N	0.121414	T	0.31796	0.0808	L	0.36672	1.1	0.20926	N	0.999828	B	0.31548	0.328	B	0.38921	0.285	T	0.27365	-1.0076	10	0.19147	T	0.46	-6.8062	8.7643	0.34694	0.0:0.5071:0.2777:0.2151	.	482	Q96M69	LRGUK_HUMAN	I	482	ENSP00000285928:L482I	ENSP00000285928:L482I	L	+	1	2	LRGUK	133532296	0.991000	0.36638	0.996000	0.52242	0.922000	0.55478	0.546000	0.23284	0.119000	0.18210	-1.938000	0.00498	CTA		0.338	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648	
SSBP1	6742	hgsc.bcm.edu	37	7	141445301	141445301	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr7:141445301G>A	ENST00000481508.1	+	6	755	c.320G>A	c.(319-321)cGa>cAa	p.R107Q	SSBP1_ENST00000265304.6_Missense_Mutation_p.R107Q|SSBP1_ENST00000465582.1_Missense_Mutation_p.R107Q|SSBP1_ENST00000498107.1_Missense_Mutation_p.R107Q|SSBP1_ENST00000469123.1_3'UTR|SSBP1_ENST00000484178.1_Missense_Mutation_p.R107Q	NM_001256510.1	NP_001243439.1	Q04837	SSBP_HUMAN	single-stranded DNA binding protein 1, mitochondrial	107	SSB.				DNA replication (GO:0006260)|mitochondrion morphogenesis (GO:0070584)|positive regulation of helicase activity (GO:0051096)	extracellular vesicular exosome (GO:0070062)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)	p.R107Q(1)		large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|skin(1)	7	Melanoma(164;0.0171)					ATCAGGTCTCGAATTTATTTG	0.338																																					p.R107Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G320A	7						.						90.0	100.0	96.0					7																	141445301		2203	4300	6503	141091770	SO:0001583	missense	6742	exon6			M94556	CCDS5866.1	7q34	2012-05-25	2012-05-25		ENSG00000106028	ENSG00000106028			11317	protein-coding gene	gene with protein product		600439	"""single-stranded DNA-binding protein"", ""single-stranded DNA binding protein 1"""			7789991	Standard	NM_001256510		Approved	SSBP, mtSSB	uc031szi.1	Q04837	OTTHUMG00000157572	ENST00000481508.1:c.320G>A	7.37:g.141445301G>A	ENSP00000419665:p.Arg107Gln	Somatic		Capture	SOLID	Phase_I	141091770	NM_003143		Missense_Mutation	SNP	ENST00000481508.1	37	CCDS5866.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462281	0.84425	.	.	ENSG00000106028	ENST00000265304;ENST00000498107;ENST00000467681;ENST00000465582;ENST00000463093;ENST00000484178;ENST00000481508	.	.	.	5.47	5.47	0.80525	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.41465	0.1160	N	0.21194	0.64	0.80722	D	1	D;D	0.67145	0.996;0.977	P;B	0.45610	0.487;0.337	T	0.35051	-0.9804	9	0.02654	T	1	-11.5216	19.3324	0.94297	0.0:0.0:1.0:0.0	.	107;107	B7Z268;Q04837	.;SSBP_HUMAN	Q	107	.	ENSP00000265304:R107Q	R	+	2	0	SSBP1	141091770	1.000000	0.71417	0.998000	0.56505	0.851000	0.48451	8.547000	0.90665	2.571000	0.86741	0.655000	0.94253	CGA		0.338	SSBP1-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349187.1	NM_003143	
PDIA4	9601	hgsc.bcm.edu	37	7	148701114	148701114	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr7:148701114C>A	ENST00000286091.4	-	10	1942	c.1710G>T	c.(1708-1710)aaG>aaT	p.K570N		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	570	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)	p.K570N(1)		large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CCTTGTACTTCTTGGCCAGGC	0.597																																					p.K570N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1710T	7						.						121.0	118.0	119.0					7																	148701114		2203	4300	6503	148332047	SO:0001583	missense	9601	exon10			BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1710G>T	7.37:g.148701114C>A	ENSP00000286091:p.Lys570Asn	Somatic		Capture	SOLID	Phase_I	148332047	NM_004911	A8K4K6|Q549T6	Missense_Mutation	SNP	ENST00000286091.4	37	CCDS5893.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200447	0.79015	.	.	ENSG00000155660	ENST00000286091	T	0.24350	1.86	5.81	5.81	0.92471	Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.000000	0.85682	D	0.000000	T	0.37625	0.1010	L	0.49513	1.565	0.80722	D	1	B	0.31290	0.318	P	0.50162	0.633	T	0.34900	-0.9810	10	0.54805	T	0.06	.	7.608	0.28113	0.0:0.8067:0.0:0.1933	.	570	P13667	PDIA4_HUMAN	N	570	ENSP00000286091:K570N	ENSP00000286091:K570N	K	-	3	2	PDIA4	148332047	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.714000	0.47202	2.751000	0.94390	0.555000	0.69702	AAG		0.597	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911	
IL6	3569	hgsc.bcm.edu	37	7	22767230	22767230	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr7:22767230G>A	ENST00000404625.1	+	3	646	c.187G>A	c.(187-189)Ggc>Agc	p.G63S	IL6_ENST00000407492.1_Intron|IL6_ENST00000401630.3_Missense_Mutation_p.G40S|IL6_ENST00000258743.5_Missense_Mutation_p.G63S|IL6_ENST00000420258.2_Missense_Mutation_p.G117S|AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000401651.1_Intron|IL6_ENST00000406575.1_Missense_Mutation_p.G63S			P05231	IL6_HUMAN	interleukin 6	63					acute-phase response (GO:0006953)|aging (GO:0007568)|bone remodeling (GO:0046849)|branching involved in salivary gland morphogenesis (GO:0060445)|cell growth (GO:0016049)|cell redox homeostasis (GO:0045454)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endocrine pancreas development (GO:0031018)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|glucagon secretion (GO:0070091)|hepatic immune response (GO:0002384)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of hormone secretion (GO:0046888)|negative regulation of lipid storage (GO:0010888)|negative regulation of muscle organ development (GO:0048635)|negative regulation of neuron death (GO:1901215)|negative regulation of protein kinase activity (GO:0006469)|neuron projection development (GO:0031175)|neutrophil apoptotic process (GO:0001781)|neutrophil mediated immunity (GO:0002446)|platelet activation (GO:0030168)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell activation (GO:0050871)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of angiogenesis (GO:0045765)|regulation of cell shape (GO:0008360)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of vascular endothelial growth factor production (GO:0010574)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to caffeine (GO:0031000)|response to calcium ion (GO:0051592)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to peptidoglycan (GO:0032494)|T-helper 17 cell lineage commitment (GO:0072540)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)	p.G63S(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Ginseng(DB01404)	CATCCTCGACGGCATCTCAGC	0.592																																					p.G63S	Esophageal Squamous(47;342 1214 13936 33513)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G187A	7						.						93.0	88.0	90.0					7																	22767230		2203	4300	6503	22733755	SO:0001583	missense	3569	exon2			M18403	CCDS5375.1	7p21-p15	2014-04-04	2014-04-04		ENSG00000136244	ENSG00000136244		"""Interleukins and interleukin receptors"", ""Interferons"""	6018	protein-coding gene	gene with protein product	"""interferon, beta 2"""	147620	"""interleukin 6 (interferon, beta 2)"""	IFNB2		3294161	Standard	NM_000600		Approved	IL-6, BSF2, HGF, HSF	uc003svj.4	P05231	OTTHUMG00000023178	ENST00000404625.1:c.187G>A	7.37:g.22767230G>A	ENSP00000385675:p.Gly63Ser	Somatic		Capture	SOLID	Phase_I	22733755	NM_000600	Q9UCU2|Q9UCU3|Q9UCU4	Missense_Mutation	SNP	ENST00000404625.1	37	CCDS5375.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624986	0.66901	.	.	ENSG00000136244	ENST00000404625;ENST00000426291;ENST00000258743;ENST00000420258;ENST00000401630;ENST00000406575	T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37;2.37	5.73	-7.63	0.01290	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.051350	0.07276	N	0.869904	T	0.11623	0.0283	N	0.14661	0.345	0.09310	N	1	D;D;P	0.58970	0.983;0.984;0.933	P;P;B	0.52758	0.708;0.645;0.43	T	0.16689	-1.0394	10	0.22706	T	0.39	-0.2201	7.1005	0.25333	0.4851:0.2042:0.3107:0.0	.	117;63;63	B4DNQ5;B5MC14;P05231	.;.;IL6_HUMAN	S	63;63;63;117;40;63	ENSP00000385675:G63S;ENSP00000405150:G63S;ENSP00000258743:G63S;ENSP00000405994:G117S;ENSP00000384928:G40S;ENSP00000385227:G63S	ENSP00000258743:G63S	G	+	1	0	IL6	22733755	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.387000	0.07361	-1.013000	0.03383	-0.300000	0.09419	GGC		0.592	IL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250225.2	NM_000600	
NPVF	64111	hgsc.bcm.edu	37	7	25264782	25264782	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr7:25264782A>C	ENST00000222674.2	-	3	596	c.550T>G	c.(550-552)Ttc>Gtc	p.F184V		NM_022150.3	NP_071433	Q9HCQ7	NPVF_HUMAN	neuropeptide VF precursor	184					negative regulation of gonadotropin secretion (GO:0032277)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.F184V(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						ATTTTCTTGAATAGCAGTCTC	0.388																																					p.F184V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T550G	7						.						190.0	180.0	183.0					7																	25264782		2203	4300	6503	25231307	SO:0001583	missense	64111	exon3			AB040290	CCDS5395.1	7p21-p15	2013-02-28	2006-10-06	2006-10-06	ENSG00000105954	ENSG00000105954		"""Endogenous ligands"""	13782	protein-coding gene	gene with protein product	"""RFamide-related peptide precursor"", ""FMRFamide-related peptide precursor"""		"""chromosome 7 open reading frame 9"""	C7orf9		11951088, 11173868	Standard	NM_022150		Approved	RFRP	uc003sxo.3	Q9HCQ7	OTTHUMG00000128509	ENST00000222674.2:c.550T>G	7.37:g.25264782A>C	ENSP00000222674:p.Phe184Val	Somatic		Capture	SOLID	Phase_I	25231307	NM_022150	A4D164|Q7LE27|Q96PI9	Missense_Mutation	SNP	ENST00000222674.2	37	CCDS5395.1	.	.	.	.	.	.	.	.	.	.	A	11.63	1.695725	0.30052	.	.	ENSG00000105954	ENST00000222674	T	0.33865	1.39	4.44	2.02	0.26589	.	0.204764	0.35291	N	0.003316	T	0.37128	0.0992	L	0.59436	1.845	0.09310	N	1	P	0.45957	0.869	P	0.47827	0.558	T	0.20874	-1.0262	10	0.72032	D	0.01	-11.9068	5.8209	0.18526	0.7743:0.0:0.2257:0.0	.	184	Q9HCQ7	RFRP_HUMAN	V	184	ENSP00000222674:F184V	ENSP00000222674:F184V	F	-	1	0	NPVF	25231307	0.138000	0.22547	0.014000	0.15608	0.749000	0.42624	0.830000	0.27462	0.442000	0.26555	0.528000	0.53228	TTC		0.388	NPVF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250315.1	NM_022150	
TAX1BP1	8887	hgsc.bcm.edu	37	7	27831747	27831747	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr7:27831747G>A	ENST00000396319.2	+	9	1249	c.1161G>A	c.(1159-1161)acG>acA	p.T387T	TAX1BP1_ENST00000543117.1_Silent_p.T387T|TAX1BP1_ENST00000265393.6_Silent_p.T387T|TAX1BP1_ENST00000409980.1_Silent_p.T387T|TAX1BP1_ENST00000433216.2_Silent_p.T230T	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	387	Oligomerization.				apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)	p.T387T(2)		breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GAGACAGAACGATGGCAGACC	0.443																																					p.T387T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1161A	7						.						106.0	96.0	99.0					7																	27831747		2203	4300	6503	27798272	SO:0001819	synonymous_variant	8887	exon9			U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.1161G>A	7.37:g.27831747G>A		Somatic		Capture	SOLID	Phase_I	27798272	NM_001079864	B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Silent	SNP	ENST00000396319.2	37	CCDS5415.1																																																																																				0.443	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024	
GGCT	79017	hgsc.bcm.edu	37	7	30540161	30540161	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr7:30540161G>T	ENST00000275428.4	-	2	412	c.278C>A	c.(277-279)tCt>tAt	p.S93Y	GGCT_ENST00000005374.6_Missense_Mutation_p.S93Y|GGCT_ENST00000409144.1_Intron|GGCT_ENST00000409390.1_Missense_Mutation_p.S93Y|GGCT_ENST00000598361.1_Missense_Mutation_p.S8Y|GGCT_ENST00000409436.1_Missense_Mutation_p.S93Y	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN	gamma-glutamylcyclotransferase	93					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|release of cytochrome c from mitochondria (GO:0001836)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	gamma-glutamylcyclotransferase activity (GO:0003839)|protein homodimerization activity (GO:0042803)	p.S93Y(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						CTCATCCAGAGAATTTAAATT	0.373																																					p.S93Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C278A	7						.						144.0	136.0	139.0					7																	30540161		2202	4300	6502	30506686	SO:0001583	missense	79017	exon2			BC019243	CCDS5428.1, CCDS56474.1, CCDS56475.1, CCDS56476.1	7p15-p14	2010-04-23	2010-04-23	2008-08-04	ENSG00000006625	ENSG00000006625	2.3.2.4		21705	protein-coding gene	gene with protein product		137170	"""chromosome 7 open reading frame 24"""	C7orf24, GCTG		17932939, 18515354	Standard	NM_024051		Approved	MGC3077, CRF21, Ggc	uc003tba.3	O75223	OTTHUMG00000128593	ENST00000275428.4:c.278C>A	7.37:g.30540161G>T	ENSP00000275428:p.Ser93Tyr	Somatic		Capture	SOLID	Phase_I	30506686	NM_001199815	B2RDN0|B8ZZN4|B8ZZR8|Q9BS37	Missense_Mutation	SNP	ENST00000275428.4	37	CCDS5428.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520013	0.85495	.	.	ENSG00000006625	ENST00000275428;ENST00000005374;ENST00000409390;ENST00000409436	.	.	.	5.86	5.86	0.93980	Butirosin biosynthesis, BtrG-like (1);AIG2-like (1);	0.106825	0.64402	D	0.000003	D	0.82912	0.5140	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.75020	0.937;0.985	D	0.83441	0.0043	9	0.72032	D	0.01	-12.6221	19.5509	0.95319	0.0:0.0:1.0:0.0	.	93;93	O75223-2;O75223	.;GGCT_HUMAN	Y	93	.	ENSP00000005374:S93Y	S	-	2	0	GGCT	30506686	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.889000	0.75627	2.937000	0.99478	0.650000	0.86243	TCT		0.373	GGCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250447.2	NM_024051	
ANLN	54443	hgsc.bcm.edu	37	7	36435907	36435907	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr7:36435907G>T	ENST00000265748.2	+	2	272	c.51G>T	c.(49-51)gaG>gaT	p.E17D	ANLN_ENST00000396068.2_Missense_Mutation_p.E17D	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	17	Interaction with CD2AP.|Nuclear localization.|Required for ubiquitination.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.E17D(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CCAGGCGAGAGAATCTTCAGA	0.428																																					p.E17D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G51T	7						.						59.0	62.0	61.0					7																	36435907		2203	4300	6503	36402432	SO:0001583	missense	54443	exon2			AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.51G>T	7.37:g.36435907G>T	ENSP00000265748:p.Glu17Asp	Somatic		Capture	SOLID	Phase_I	36402432	NM_018685	Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353626	0.82243	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.42131	0.98;0.98	5.67	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.61689	0.2367	M	0.75264	2.295	0.49213	D	0.99976	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	T	0.63368	-0.6653	10	0.87932	D	0	-21.2995	10.3039	0.43670	0.2106:0.0:0.7894:0.0	.	17;17;17	A8K5D9;Q9NQW6-2;Q9NQW6	.;.;ANLN_HUMAN	D	17	ENSP00000265748:E17D;ENSP00000379380:E17D	ENSP00000265748:E17D	E	+	3	2	ANLN	36402432	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.270000	0.43355	0.764000	0.33197	0.591000	0.81541	GAG		0.428	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685	
AMPH	273	hgsc.bcm.edu	37	7	38433732	38433732	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr7:38433732G>A	ENST00000356264.2	-	18	1696	c.1481C>T	c.(1480-1482)gCg>gTg	p.A494V	AMPH_ENST00000325590.5_Missense_Mutation_p.A452V|AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000428293.2_Missense_Mutation_p.A452V	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	494					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.A494V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GGCCTTCTCCGCCTCTGCTTC	0.572																																					p.A452V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1355T	7						.						109.0	102.0	105.0					7																	38433732		2203	4300	6503	38400257	SO:0001583	missense	273	exon17				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1481C>T	7.37:g.38433732G>A	ENSP00000348602:p.Ala494Val	Somatic		Capture	SOLID	Phase_I	38400257	NM_139316	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835446	0.32421	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242	T;T;T	0.60171	0.22;0.3;0.21	5.93	0.668	0.17912	.	1.081980	0.07041	N	0.830105	T	0.32102	0.0818	N	0.24115	0.695	0.24906	N	0.992075	P;B;B;B	0.47841	0.901;0.001;0.005;0.154	B;B;B;B	0.34418	0.182;0.003;0.003;0.01	T	0.19160	-1.0314	10	0.25751	T	0.34	-0.2186	1.661	0.02792	0.1579:0.1403:0.4129:0.2889	.	540;452;494;382	Q8NFL6;P49418-2;P49418;Q8NFL4	.;.;AMPH_HUMAN;.	V	452;494;452;396	ENSP00000317441:A452V;ENSP00000348602:A494V;ENSP00000390734:A452V	ENSP00000317441:A452V	A	-	2	0	AMPH	38400257	0.000000	0.05858	0.829000	0.32907	0.590000	0.36582	-0.510000	0.06328	0.098000	0.17522	0.563000	0.77884	GCG		0.572	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635	
VPS41	27072	hgsc.bcm.edu	37	7	38805245	38805245	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr7:38805245G>T	ENST00000310301.4	-	16	1318	c.1264C>A	c.(1264-1266)Ctt>Att	p.L422I	VPS41_ENST00000395969.2_Missense_Mutation_p.L397I	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	422					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)	p.L422I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TTTTTCCCAAGAATTTTCTGG	0.318																																					p.L397I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1189A	7						.						61.0	65.0	63.0					7																	38805245		2203	4298	6501	38771770	SO:0001583	missense	27072	exon15			U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1264C>A	7.37:g.38805245G>T	ENSP00000309457:p.Leu422Ile	Somatic		Capture	SOLID	Phase_I	38771770	NM_080631	E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768623	0.90020	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.23950	1.88;1.89	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.52885	0.1762	M	0.73753	2.245	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.991;0.991	T	0.46652	-0.9176	10	0.35671	T	0.21	-17.6046	19.3294	0.94280	0.0:0.0:1.0:0.0	.	422;397;422	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	I	422;397	ENSP00000309457:L422I;ENSP00000379297:L397I	ENSP00000309457:L422I	L	-	1	0	VPS41	38771770	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.556000	0.98127	2.584000	0.87258	0.460000	0.39030	CTT		0.318	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3		
BLVRA	644	hgsc.bcm.edu	37	7	43827621	43827621	+	Missense_Mutation	SNP	C	C	T	rs387906596		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr7:43827621C>T	ENST00000402924.1	+	4	294	c.131C>T	c.(130-132)tCg>tTg	p.S44L	BLVRA_ENST00000265523.4_Missense_Mutation_p.S44L	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	44					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)	p.S44L(2)		endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						GGCTTCGTGTCGAGGTGGCTC	0.567																																					p.S44L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C131T	7						.						212.0	165.0	181.0					7																	43827621		2203	4300	6503	43794146	SO:0001583	missense	644	exon3			BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.131C>T	7.37:g.43827621C>T	ENSP00000385757:p.Ser44Leu	Somatic		Capture	SOLID	Phase_I	43794146	NM_000712	A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Missense_Mutation	SNP	ENST00000402924.1	37	CCDS5472.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054595	0.75960	.	.	ENSG00000106605	ENST00000265523;ENST00000402924;ENST00000424330	T;T;T	0.26518	1.73;1.73;1.73	5.05	5.05	0.67936	Oxidoreductase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.53769	0.1817	M	0.89214	3.015	0.58432	D	0.999991	D	0.76494	0.999	P	0.62014	0.897	T	0.57734	-0.7760	10	0.33141	T	0.24	-18.2224	16.2838	0.82709	0.0:1.0:0.0:0.0	.	44	P53004	BIEA_HUMAN	L	44	ENSP00000265523:S44L;ENSP00000385757:S44L;ENSP00000412005:S44L	ENSP00000265523:S44L	S	+	2	0	BLVRA	43794146	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	3.865000	0.56033	2.522000	0.85027	0.555000	0.69702	TCG		0.567	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339006.1	NM_000712	
HGF	3082	hgsc.bcm.edu	37	7	81386600	81386600	+	Silent	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr7:81386600G>T	ENST00000222390.5	-	4	613	c.387C>A	c.(385-387)atC>atA	p.I129I	HGF_ENST00000444829.2_Silent_p.I129I|HGF_ENST00000423064.2_Silent_p.I129I|HGF_ENST00000453411.1_Silent_p.I129I|HGF_ENST00000457544.2_Silent_p.I129I|HGF_ENST00000453018.1_Silent_p.I26I|HGF_ENST00000354224.6_Silent_p.I129I	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	129	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.I129I(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CTTTACCAATGATGCAGTTTC	0.373																																					p.I129I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C387A	7						.						145.0	130.0	135.0					7																	81386600		2203	4300	6503	81224536	SO:0001819	synonymous_variant	3082	exon4				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.387C>A	7.37:g.81386600G>T		Somatic		Capture	SOLID	Phase_I	81224536	NM_001010934	A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Silent	SNP	ENST00000222390.5	37	CCDS5597.1																																																																																				0.373	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601	
CACNA2D1	781	hgsc.bcm.edu	37	7	81662122	81662122	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr7:81662122T>G	ENST00000356253.5	-	12	1389	c.1134A>C	c.(1132-1134)aaA>aaC	p.K378N	MIR1255B1_ENST00000439234.1_RNA|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.K378N|CACNA2D1_ENST00000464354.1_5'UTR			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	378	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.K378N(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CTTTTTTATCTTTATTGTATT	0.308																																					p.K378N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1134C	7						.						55.0	56.0	56.0					7																	81662122		2201	4299	6500	81500058	SO:0001583	missense	781	exon12			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1134A>C	7.37:g.81662122T>G	ENSP00000348589:p.Lys378Asn	Somatic		Capture	SOLID	Phase_I	81500058	NM_000722	Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37		.	.	.	.	.	.	.	.	.	.	T	13.73	2.323914	0.41096	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	D;D	0.83755	-1.76;-1.76	5.65	3.27	0.37495	.	0.304838	0.38058	N	0.001825	T	0.65668	0.2713	N	0.08118	0	0.80722	D	1	B	0.10296	0.003	B	0.19666	0.026	T	0.55724	-0.8096	10	0.44086	T	0.13	-28.3949	8.2291	0.31587	0.0:0.2904:0.0:0.7096	.	378	P54289-2	.	N	378	ENSP00000349320:K378N;ENSP00000348589:K378N	ENSP00000284088:K378N	K	-	3	2	CACNA2D1	81500058	0.987000	0.35691	0.999000	0.59377	0.986000	0.74619	0.172000	0.16704	0.423000	0.26033	0.477000	0.44152	AAA		0.308	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			
ABCB1	5243	hgsc.bcm.edu	37	7	87183196	87183196	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr7:87183196T>C	ENST00000265724.3	-	10	1297	c.880A>G	c.(880-882)Aca>Gca	p.T294A	ABCB1_ENST00000543898.1_Missense_Mutation_p.T230A	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	294	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.T294A(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	ATATTGGCTGTAATAGCTTTC	0.368																																					p.T294A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A880G	7						.						178.0	169.0	172.0					7																	87183196		2203	4300	6503	87021132	SO:0001583	missense	5243	exon10			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.880A>G	7.37:g.87183196T>C	ENSP00000265724:p.Thr294Ala	Somatic		Capture	SOLID	Phase_I	87021132	NM_000927	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	T	9.297	1.052214	0.19827	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.89681	-2.55;-2.55	5.55	5.55	0.83447	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.160309	0.53938	D	0.000051	D	0.82893	0.5136	N	0.13198	0.31	0.41078	D	0.985503	B;B	0.29212	0.017;0.237	B;B	0.40782	0.002;0.34	T	0.77864	-0.2429	10	0.07325	T	0.83	-22.0895	15.9963	0.80250	0.0:0.0:0.0:1.0	.	230;294	B5AK60;P08183	.;MDR1_HUMAN	A	75;294;230	ENSP00000265724:T294A;ENSP00000444095:T230A	ENSP00000265724:T294A	T	-	1	0	ABCB1	87021132	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	2.735000	0.47377	2.234000	0.73211	0.533000	0.62120	ACA		0.368	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	
AKAP9	10142	hgsc.bcm.edu	37	7	91631650	91631650	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr7:91631650G>A	ENST00000359028.2	+	9	2680	c.2455G>A	c.(2455-2457)Gac>Aac	p.D819N	AKAP9_ENST00000356239.3_Missense_Mutation_p.D807N|AKAP9_ENST00000358100.2_Missense_Mutation_p.D819N			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	819	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.D819N(1)|p.D807N(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GATTTTCTTAGACTCCATTAA	0.333			T	BRAF	papillary thyroid																																p.D807N			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2419A	7						.						68.0	75.0	73.0					7																	91631650		2203	4296	6499	91469586	SO:0001583	missense	10142	exon8			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.2455G>A	7.37:g.91631650G>A	ENSP00000351922:p.Asp819Asn	Somatic		Capture	SOLID	Phase_I	91469586	NM_147185	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	G	13.65	2.300467	0.40694	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.03860	3.79;3.79;3.78	5.64	5.64	0.86602	.	0.000000	0.43919	D	0.000516	T	0.19765	0.0475	M	0.65975	2.015	0.31218	N	0.69782	D;D;D;D	0.89917	0.999;0.999;0.998;1.0	D;D;D;D	0.85130	0.941;0.973;0.995;0.997	T	0.00546	-1.1678	10	0.59425	D	0.04	.	15.199	0.73120	0.0694:0.0:0.9306:0.0	.	819;807;807;819	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	N	807;819;819;819;819	ENSP00000348573:D807N;ENSP00000351922:D819N;ENSP00000350813:D819N	ENSP00000348573:D807N	D	+	1	0	AKAP9	91469586	0.816000	0.29132	0.574000	0.28523	0.976000	0.68499	5.328000	0.65887	2.816000	0.96949	0.561000	0.74099	GAC		0.333	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	
CALCR	799	hgsc.bcm.edu	37	7	93072940	93072940	+	Missense_Mutation	SNP	G	G	A	rs144902080		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr7:93072940G>A	ENST00000394441.1	-	8	1093	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	CALCR_ENST00000360249.4_Missense_Mutation_p.R276W|CALCR_ENST00000426151.1_Missense_Mutation_p.R260W|CALCR_ENST00000359558.2_Missense_Mutation_p.R294W|CALCR_ENST00000421592.1_Missense_Mutation_p.R276W	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	294					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.R260W(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	TAATACCACCGCAAGCGTTGC	0.448													G|||	1	0.000199681	0.0	0.0014	5008	,	,		22134	0.0		0.0	False		,,,				2504	0.0				p.R294W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C880T	7						.	G	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	121.0	113.0	116.0		880,778,778	-1.8	0.0	7	dbSNP_134	116	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CALCR	NM_001164737.1,NM_001164738.1,NM_001742.3	101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	294/509,260/475,260/475	93072940	1,13005	2203	4300	6503	92910876	SO:0001583	missense	799	exon11			L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.778C>T	7.37:g.93072940G>A	ENSP00000377959:p.Arg260Trp	Somatic		Capture	SOLID	Phase_I	92910876	NM_001164737	A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	CCDS5631.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	11.32	1.603547	0.28534	0.0	1.16E-4	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	4.94	-1.76	0.08006	.	.	.	.	.	T	0.09512	0.0234	N	0.02266	-0.62	0.32615	N	0.524104	B;B	0.24920	0.011;0.114	B;B	0.24269	0.008;0.052	T	0.41197	-0.9522	9	0.02654	T	1	.	2.5625	0.04775	0.2759:0.1131:0.4946:0.1164	.	294;260	F5H605;A4D1G6	.;.	W	294;276;276;260;260	ENSP00000352561:R294W;ENSP00000353385:R276W;ENSP00000399552:R276W;ENSP00000377959:R260W;ENSP00000389295:R260W	ENSP00000352561:R294W	R	-	1	2	CALCR	92910876	0.032000	0.19561	0.001000	0.08648	0.050000	0.14768	0.578000	0.23773	-0.448000	0.07128	-0.262000	0.10625	CGG		0.448	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742	
COL1A2	1278	hgsc.bcm.edu	37	7	94056578	94056578	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr7:94056578C>T	ENST00000297268.6	+	48	3709	c.3238C>T	c.(3238-3240)Cga>Tga	p.R1080*		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1080					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.R1080*(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGCTGGCATTCGAGGCCCTCA	0.512										HNSCC(75;0.22)																											p.R1080X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3238T	7						.						57.0	52.0	54.0					7																	94056578		2203	4300	6503	93894514	SO:0001587	stop_gained	1278	exon48			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3238C>T	7.37:g.94056578C>T	ENSP00000297268:p.Arg1080*	Somatic		Capture	SOLID	Phase_I	93894514	NM_000089	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Nonsense_Mutation	SNP	ENST00000297268.6	37	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	47	13.134766	0.99722	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5787	0.95455	0.0:1.0:0.0:0.0	.	.	.	.	X	1080;1081	.	ENSP00000297268:R1080X	R	+	1	2	COL1A2	93894514	1.000000	0.71417	0.987000	0.45799	0.964000	0.63967	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	CGA		0.512	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089	
DYNC1I1	1780	hgsc.bcm.edu	37	7	95434091	95434091	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr7:95434091G>A	ENST00000324972.6	+	2	243	c.50G>A	c.(49-51)cGc>cAc	p.R17H	DYNC1I1_ENST00000447467.2_Missense_Mutation_p.R17H|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.R17H|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.R17H|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.R17H|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.R17H|DYNC1I1_ENST00000413338.1_Missense_Mutation_p.R17H	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	17	Interaction with DCTN1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)	p.R17H(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			AAAAAGCAGCGCTTAGCACag	0.393																																					p.R17H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G50A	7						.						89.0	98.0	95.0					7																	95434091		2202	4299	6501	95272027	SO:0001583	missense	1780	exon2			AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.50G>A	7.37:g.95434091G>A	ENSP00000320130:p.Arg17His	Somatic		Capture	SOLID	Phase_I	95272027	NM_004411	B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	G	32	5.143128	0.94560	.	.	ENSG00000158560	ENST00000447467;ENST00000524053;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000413338;ENST00000518089;ENST00000457059	T;T;T;T;T;T;T	0.78003	-0.91;2.29;-1.14;-0.93;-0.93;2.29;-0.91	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.86602	0.5972	L	0.61218	1.895	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	0.79784	0.985;0.993;0.993;0.991;0.993	D	0.88041	0.2781	10	0.87932	D	0	0.4868	18.0447	0.89328	0.0:0.0:1.0:0.0	.	17;17;17;17;17	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	H	17	ENSP00000392337:R17H;ENSP00000320130:R17H;ENSP00000438377:R17H;ENSP00000398118:R17H;ENSP00000352348:R17H;ENSP00000428273:R17H;ENSP00000412444:R17H	ENSP00000320130:R17H	R	+	2	0	DYNC1I1	95272027	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.424000	0.97464	2.570000	0.86706	0.563000	0.77884	CGC		0.393	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411	
FAM200A	221786	hgsc.bcm.edu	37	7	99145140	99145140	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr7:99145140A>T	ENST00000449309.1	-	2	1270	c.891T>A	c.(889-891)ttT>ttA	p.F297L		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	297						integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.F297L(1)		endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						cttctgtatgaaacaataagt	0.358																																					p.F297L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T891A	7						.						23.0	22.0	22.0					7																	99145140		1536	2698	4234	98983076	SO:0001583	missense	221786	exon2				CCDS5668.1	7q22.1	2010-02-22	2010-02-22	2010-02-22	ENSG00000221909	ENSG00000221909			25401	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 38"""	C7orf38		10607616	Standard	NM_145111		Approved	FLJ36794, DKFZp727G131	uc003ura.3	Q8TCP9	OTTHUMG00000156723	ENST00000449309.1:c.891T>A	7.37:g.99145140A>T	ENSP00000411372:p.Phe297Leu	Somatic		Capture	SOLID	Phase_I	98983076	NM_145111	A4D293|A8K3V9|B2RD92|C9J6A8|D6W5T2|Q8N9P3	Missense_Mutation	SNP	ENST00000449309.1	37	CCDS5668.1	.	.	.	.	.	.	.	.	.	.	A	0.030	-1.343685	0.01277	.	.	ENSG00000221909	ENST00000449309;ENST00000408938	D;D	0.82893	-1.66;-1.66	1.88	1.88	0.25563	Ribonuclease H-like (1);	1.536960	0.04727	N	0.420427	T	0.66567	0.2802	N	0.12502	0.225	0.22684	N	0.998853	B	0.06786	0.001	B	0.14578	0.011	T	0.55108	-0.8192	10	0.09843	T	0.71	.	5.7783	0.18292	1.0:0.0:0.0:0.0	.	297	Q8TCP9	F200A_HUMAN	L	297	ENSP00000411372:F297L;ENSP00000386191:F297L	ENSP00000386191:F297L	F	-	3	2	FAM200A	98983076	1.000000	0.71417	0.708000	0.30435	0.565000	0.35776	2.045000	0.41250	1.114000	0.41781	0.383000	0.25322	TTT		0.358	FAM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345467.1	NM_145111	
GIMAP5	55340	hgsc.bcm.edu	37	7	150440145	150440145	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr7:150440145C>A	ENST00000358647.3	+	3	1285	c.918C>A	c.(916-918)taC>taA	p.Y306*	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	306					myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)	p.Y306*(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCTTTCATTACATTTAAATCT	0.353																																					p.Y510X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1530A	7						.						39.0	37.0	38.0					7																	150440145		2184	4283	6467	150071078	SO:0001587	stop_gained	55340	exon6			AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"""GTPases, IMAP"""	18005	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 5"""	608086	"""immune associated nucleotide 4 like 1 (mouse)"""	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.918C>A	7.37:g.150440145C>A	ENSP00000351473:p.Tyr306*	Somatic		Capture	SOLID	Phase_I	150071078	NM_001199577	D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Nonsense_Mutation	SNP	ENST00000358647.3	37	CCDS5907.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166399	0.78339	.	.	ENSG00000196329	ENST00000358647;ENST00000447239	.	.	.	1.88	0.676	0.17958	.	2.527550	0.02187	U	0.061049	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.6574	0.08226	0.0:0.2081:0.0:0.7919	.	.	.	.	X	306;342	.	ENSP00000351473:Y306X	Y	+	3	2	GIMAP5	150071078	0.000000	0.05858	0.001000	0.08648	0.058000	0.15608	-0.258000	0.08733	0.200000	0.20447	-0.786000	0.03341	TAC		0.353	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384	
TASP1	55617	hgsc.bcm.edu	37	20	13567966	13567966	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr20:13567966C>A	ENST00000337743.4	-	5	454	c.334G>T	c.(334-336)Gaa>Taa	p.E112*	TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_Intron	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	112					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)	p.E112*(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						CACTCAATTTCACCTAACAGA	0.338																																					p.E112X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G334T	20						.						158.0	144.0	149.0					20																	13567966		2203	4300	6503	13515966	SO:0001587	stop_gained	55617	exon5			AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"""chromosome 20 open reading frame 13"""	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.334G>T	20.37:g.13567966C>A	ENSP00000338624:p.Glu112*	Somatic		Capture	SOLID	Phase_I	13515966	NM_017714	B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Nonsense_Mutation	SNP	ENST00000337743.4	37	CCDS13116.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793280	0.90453	.	.	ENSG00000089123	ENST00000378157;ENST00000337743;ENST00000455532	.	.	.	5.44	5.44	0.79542	.	0.091491	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-18.6363	12.5943	0.56459	0.0:0.9239:0.0:0.0761	.	.	.	.	X	89;112;89	.	ENSP00000338624:E112X	E	-	1	0	TASP1	13515966	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.796000	0.47869	2.540000	0.85666	0.655000	0.94253	GAA		0.338	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	NM_017714	
FLRT3	23767	hgsc.bcm.edu	37	20	14306375	14306375	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr20:14306375G>T	ENST00000378053.3	-	2	2034	c.1778C>A	c.(1777-1779)tCt>tAt	p.S593Y	FLRT3_ENST00000341420.4_Missense_Mutation_p.S593Y|MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	593					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.S593Y(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CATCTGAAAAGAAGTTTCCCT	0.398																																					p.S593Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1778A	20						.						184.0	166.0	172.0					20																	14306375		2203	4300	6503	14254375	SO:0001583	missense	23767	exon3			AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.1778C>A	20.37:g.14306375G>T	ENSP00000367292:p.Ser593Tyr	Somatic		Capture	SOLID	Phase_I	14254375	NM_198391	D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.528995	0.64860	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.65732	-0.17;-0.17	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.74351	0.3705	L	0.39898	1.24	0.80722	D	1	D	0.65815	0.995	D	0.68353	0.957	T	0.73814	-0.3864	10	0.72032	D	0.01	-12.6686	20.8598	0.99761	0.0:0.0:1.0:0.0	.	593	Q9NZU0	FLRT3_HUMAN	Y	593	ENSP00000367292:S593Y;ENSP00000339912:S593Y	ENSP00000339912:S593Y	S	-	2	0	FLRT3	14254375	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	TCT		0.398	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281	
SNX5	27131	hgsc.bcm.edu	37	20	17932210	17932210	+	Silent	SNP	C	C	T	rs2273448	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr20:17932210C>T	ENST00000377768.3	-	7	855	c.543G>A	c.(541-543)gaG>gaA	p.E181E	SNX5_ENST00000377759.4_Silent_p.E181E|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	181					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)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						CACCAAACATCTCTTTAGTAT	0.343													C|||	1488	0.297125	0.115	0.232	5008	,	,		18237	0.4375		0.2634	False		,,,				2504	0.4796				p.E181E												.	.	0			c.G543A	20						.	C	,	710,3696	291.8+/-281.7	64,582,1557	111.0	106.0	108.0		543,543	4.3	1.0	20	dbSNP_100	108	2500,6100	407.9+/-349.3	353,1794,2153	no	coding-synonymous,coding-synonymous	SNX5	NM_014426.2,NM_152227.1	,	417,2376,3710	TT,TC,CC		29.0698,16.1144,24.6809	,	181/405,181/405	17932210	3210,9796	2203	4300	6503	17880210	SO:0001819	synonymous_variant	27131	exon7			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.543G>A	20.37:g.17932210C>T		Somatic		Capture	SOLID	Phase_I	17880210	NM_152227	B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Silent	SNP	ENST00000377768.3	37	CCDS13130.1																																																																																				0.343	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078137.4		
NINL	22981	hgsc.bcm.edu	37	20	25434140	25434140	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr20:25434140G>A	ENST00000278886.6	-	24	4169	c.4096C>T	c.(4096-4098)Cgc>Tgc	p.R1366C	NINL_ENST00000422516.1_Missense_Mutation_p.R1017C|NINL_ENST00000464285.1_5'UTR	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1366			R -> H (in dbSNP:rs17857107). {ECO:0000269|PubMed:15489334}.		G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)	p.R1366C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TTGAGAGCGCGAACTTTTTCT	0.507																																					p.R1366C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4096T	20						.						103.0	105.0	104.0					20																	25434140		2203	4300	6503	25382140	SO:0001583	missense	22981	exon24				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.4096C>T	20.37:g.25434140G>A	ENSP00000278886:p.Arg1366Cys	Somatic		Capture	SOLID	Phase_I	25382140	NM_025176	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826572	0.50739	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.35605	1.3;1.3	5.04	0.263	0.15602	.	1.477320	0.04350	N	0.355413	T	0.56108	0.1963	M	0.65975	2.015	0.09310	N	1	D;D;D	0.89917	0.998;0.997;1.0	P;D;D	0.65010	0.804;0.926;0.931	T	0.44050	-0.9353	10	0.72032	D	0.01	-2.1281	9.1677	0.37060	0.0:0.0908:0.3894:0.5198	.	1017;1366;157	Q9Y2I6-2;Q9Y2I6;Q9HAD5	.;NINL_HUMAN;.	C	1366;1017	ENSP00000278886:R1366C;ENSP00000410431:R1017C	ENSP00000278886:R1366C	R	-	1	0	NINL	25382140	0.000000	0.05858	0.001000	0.08648	0.594000	0.36715	-0.593000	0.05740	0.148000	0.19059	0.655000	0.94253	CGC		0.507	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176	
ZNF337	26152	hgsc.bcm.edu	37	20	25656432	25656432	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr20:25656432G>A	ENST00000376436.1	-	4	2031	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W	ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.R466W|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.R498W			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	498					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.R498W(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GACTTATCCCGAAACCTTCGC	0.498																																					p.R498W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1492T	20						.						108.0	107.0	107.0					20																	25656432		2203	4300	6503	25604432	SO:0001583	missense	26152	exon5				CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.1492C>T	20.37:g.25656432G>A	ENSP00000365619:p.Arg498Trp	Somatic		Capture	SOLID	Phase_I	25604432	NM_015655	B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.757325	0.49468	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	T;T;T	0.54071	0.59;0.59;0.59	1.29	-2.57	0.06248	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.54062	0.1835	M	0.81802	2.56	0.09310	N	1	D;D	0.69078	0.997;0.997	P;P	0.50659	0.647;0.647	T	0.49293	-0.8955	9	0.72032	D	0.01	.	0.6769	0.00868	0.1934:0.344:0.2147:0.248	.	466;498	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	W	498;498;498;466	ENSP00000365619:R498W;ENSP00000252979:R498W;ENSP00000442181:R466W	ENSP00000252979:R498W	R	-	1	2	ZNF337	25604432	0.008000	0.16893	0.000000	0.03702	0.914000	0.54420	-0.121000	0.10643	-1.076000	0.03125	0.298000	0.19748	CGG		0.498	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1		
HM13	81502	hgsc.bcm.edu	37	20	30132790	30132790	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr20:30132790C>T	ENST00000340852.5	+	4	530	c.406C>T	c.(406-408)Cga>Tga	p.R136*	HM13_ENST00000398174.3_Nonsense_Mutation_p.R136*|HM13_ENST00000376127.3_Nonsense_Mutation_p.R136*|HM13_ENST00000335574.5_Nonsense_Mutation_p.R136*|HM13_ENST00000492709.1_3'UTR	NM_030789.2	NP_110416.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	136					membrane protein proteolysis (GO:0033619)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)	p.R136*(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CTTTCCAAATCGACAGTACCA	0.512																																					p.R136X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C406T	20						.						116.0	107.0	110.0					20																	30132790		2203	4300	6503	29596451	SO:0001587	stop_gained	81502	exon4			AL110115	CCDS13182.1, CCDS13183.1, CCDS42861.1	20q11.21	2012-02-21			ENSG00000101294	ENSG00000101294			16435	protein-coding gene	gene with protein product	"""signal peptide peptidase beta"", ""presenilin-like protein 3"", ""intramembrane protease"", ""signal peptide peptidase like 1"""	607106				12077416, 14704149	Standard	NM_030789		Approved	H13, dJ324O17.1, SPP, PSL3, IMP1, IMPAS, PSENL3, SPPL1	uc002wwc.3	Q8TCT9	OTTHUMG00000032175	ENST00000340852.5:c.406C>T	20.37:g.30132790C>T	ENSP00000343032:p.Arg136*	Somatic		Capture	SOLID	Phase_I	29596451	NM_030789	B2RAY5|E1P5L3|Q15K36|Q540H8|Q5JWP2|Q5JWP3|Q5JWP4|Q5JWP5|Q7Z4F2|Q86Y35|Q95H87|Q9H110|Q9H111	Nonsense_Mutation	SNP	ENST00000340852.5	37	CCDS13182.1	.	.	.	.	.	.	.	.	.	.	C	37	6.498435	0.97616	.	.	ENSG00000101294	ENST00000335574;ENST00000340852;ENST00000398174;ENST00000376127;ENST00000344042	.	.	.	5.04	4.03	0.46877	.	0.198055	0.42821	D	0.000645	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	0.0183	10.1263	0.42652	0.266:0.734:0.0:0.0	.	.	.	.	X	136	.	ENSP00000335294:R136X	R	+	1	2	HM13	29596451	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.717000	0.61923	2.640000	0.89533	0.655000	0.94253	CGA		0.512	HM13-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078527.2	NM_178580	
ASXL1	171023	hgsc.bcm.edu	37	20	31016150	31016150	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr20:31016150G>A	ENST00000375687.4	+	6	820	c.396G>A	c.(394-396)tcG>tcA	p.S132S	ASXL1_ENST00000306058.5_Silent_p.S127S|ASXL1_ENST00000542461.1_3'UTR|ASXL1_ENST00000470145.1_3'UTR	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	132					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.S132S(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AAACATCTTCGAACGCATCCT	0.488			"""F, N, Mis"""		"""MDS, CMML"""																																p.S132S			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G396A	20						.						221.0	203.0	209.0					20																	31016150		2203	4300	6503	30479811	SO:0001819	synonymous_variant	171023	exon5			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.396G>A	20.37:g.31016150G>A		Somatic		Capture	SOLID	Phase_I	30479811	NM_015338	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	CCDS13201.1																																																																																				0.488	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338	
BPIFB1	92747	hgsc.bcm.edu	37	20	31892660	31892660	+	Missense_Mutation	SNP	G	G	A	rs200329226		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr20:31892660G>A	ENST00000253354.1	+	13	1378	c.1217G>A	c.(1216-1218)cGg>cAg	p.R406Q	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	406					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)	p.R406Q(1)									AGCTCTGATCGGATCCAGCTG	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		15063	0.0		0.001	False		,,,				2504	0.0				p.R406Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1217A	20						.						121.0	97.0	105.0					20																	31892660		2203	4300	6503	31356321	SO:0001583	missense	92747	exon13			BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"""BPI fold containing"""	16108	protein-coding gene	gene with protein product	"""von Ebner minor salivary gland protein"""		"""chromosome 20 open reading frame 114"""	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.1217G>A	20.37:g.31892660G>A	ENSP00000253354:p.Arg406Gln	Somatic		Capture	SOLID	Phase_I	31356321	NM_033197	A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	ENST00000253354.1	37	CCDS13218.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	19.47	3.833556	0.71258	.	.	ENSG00000125999	ENST00000253354	T	0.06449	3.3	5.26	4.31	0.51392	.	0.000000	0.56097	D	0.000034	T	0.18257	0.0438	M	0.62723	1.935	0.28231	N	0.926091	D	0.89917	1.0	D	0.83275	0.996	T	0.03157	-1.1066	10	0.28530	T	0.3	-17.2325	9.7642	0.40550	0.0936:0.0:0.9064:0.0	.	406	Q8TDL5	BPIB1_HUMAN	Q	406	ENSP00000253354:R406Q	ENSP00000253354:R406Q	R	+	2	0	BPIFB1	31356321	0.918000	0.31147	0.696000	0.30242	0.022000	0.10575	1.299000	0.33424	1.451000	0.47736	0.561000	0.74099	CGG		0.517	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197	
ITCH	83737	hgsc.bcm.edu	37	20	33095508	33095508	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr20:33095508G>A	ENST00000262650.6	+	26	2757	c.2621G>A	c.(2620-2622)cGc>cAc	p.R874H	ITCH_ENST00000374864.4_Missense_Mutation_p.R833H|ITCH_ENST00000535650.1_Missense_Mutation_p.R723H			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	874	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)	p.R833H(1)		NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						AGTTTTAATCGCCTGGACCTG	0.363																																					p.R833H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2498A	20						.						94.0	88.0	90.0					20																	33095508		2203	4300	6503	32559169	SO:0001583	missense	83737	exon25			AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.2621G>A	20.37:g.33095508G>A	ENSP00000262650:p.Arg874His	Somatic		Capture	SOLID	Phase_I	32559169	NM_031483	A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	ENST00000262650.6	37	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465217	0.84425	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	T;T;T	0.59083	0.29;0.29;0.29	4.96	4.01	0.46588	HECT (4);	0.000000	0.85682	D	0.000000	T	0.79269	0.4417	M	0.90814	3.15	0.80722	D	1	B;D;D	0.89917	0.078;1.0;1.0	B;D;D	0.87578	0.006;0.998;0.997	D	0.84060	0.0374	10	0.87932	D	0	.	13.4946	0.61416	0.0763:0.0:0.9237:0.0	.	785;874;833	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	H	833;723;874	ENSP00000363998:R833H;ENSP00000445608:R723H;ENSP00000262650:R874H	ENSP00000262650:R874H	R	+	2	0	ITCH	32559169	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.601000	0.98297	1.453000	0.47775	0.650000	0.86243	CGC		0.363	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2		
EPB41L1	2036	hgsc.bcm.edu	37	20	34797644	34797644	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr20:34797644G>T	ENST00000338074.2	+	15	2064	c.1903G>T	c.(1903-1905)Gac>Tac	p.D635Y	EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373950.2_Missense_Mutation_p.D526Y|EPB41L1_ENST00000373941.1_Missense_Mutation_p.D635Y|EPB41L1_ENST00000441639.1_Missense_Mutation_p.D561Y|EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000202028.5_Missense_Mutation_p.D561Y	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	635					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.D924Y(1)|p.D635Y(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CGCCTTCGAAGACTTCTCCCG	0.617																																					p.D635Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1903T	20						.						76.0	63.0	67.0					20																	34797644		2203	4300	6503	34261058	SO:0001583	missense	2036	exon15			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1903G>T	20.37:g.34797644G>T	ENSP00000337168:p.Asp635Tyr	Somatic		Capture	SOLID	Phase_I	34261058	NM_012156	O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971773	0.74246	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000344237;ENST00000338074;ENST00000373941	D;D;D;D;D	0.85861	-2.04;-1.91;-2.04;-1.96;-1.96	5.87	4.87	0.63330	.	0.057628	0.64402	D	0.000002	D	0.87317	0.6147	L	0.29908	0.895	0.48830	D	0.999712	D;D;D;D;P;P	0.89917	0.998;1.0;1.0;0.999;0.731;0.688	D;D;D;D;B;B	0.70016	0.921;0.967;0.956;0.948;0.311;0.332	D	0.87287	0.2296	10	0.54805	T	0.06	-11.3731	15.2685	0.73681	0.0:0.0:0.8595:0.1405	.	635;924;635;526;526;561	B7Z653;E9PCJ3;Q9H4G0;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;.;E41L1_HUMAN;.;.;.	Y	561;526;635;526;561;924;635;635	ENSP00000202028:D561Y;ENSP00000363061:D526Y;ENSP00000399214:D561Y;ENSP00000337168:D635Y;ENSP00000363052:D635Y	ENSP00000202028:D561Y	D	+	1	0	EPB41L1	34261058	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.248000	0.78268	2.941000	0.99782	0.655000	0.94253	GAC		0.617	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156	
SERINC3	10955	hgsc.bcm.edu	37	20	43128971	43128971	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr20:43128971G>A	ENST00000342374.4	-	10	1545	c.1388C>T	c.(1387-1389)gCt>gTt	p.A463V	SERINC3_ENST00000255175.1_Missense_Mutation_p.A463V|SERINC3_ENST00000541235.1_Missense_Mutation_p.A408V	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	463					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)	p.A463V(1)		endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GACAAGTGGAGCCACAAGGGT	0.542																																					p.A463V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1388T	20						.						62.0	46.0	52.0					20																	43128971		2203	4300	6503	42562385	SO:0001583	missense	10955	exon10			U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.1388C>T	20.37:g.43128971G>A	ENSP00000340243:p.Ala463Val	Somatic		Capture	SOLID	Phase_I	42562385	NM_006811	B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	ENST00000342374.4	37	CCDS13333.1	.	.	.	.	.	.	.	.	.	.	G	34	5.397168	0.96009	.	.	ENSG00000132824	ENST00000411544;ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.6	5.6	0.85130	.	0.049436	0.85682	N	0.000000	T	0.64918	0.2642	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.71255	-0.4647	10	0.87932	D	0	.	19.6202	0.95653	0.0:0.0:1.0:0.0	.	463;463	Q53GK8;Q13530	.;SERC3_HUMAN	V	202;463;463;430;408	ENSP00000414197:A202V;ENSP00000255175:A463V;ENSP00000340243:A463V;ENSP00000440966:A408V	ENSP00000255175:A463V	A	-	2	0	SERINC3	42562385	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.869000	0.99810	2.649000	0.89929	0.650000	0.86243	GCT		0.542	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	NM_006811	
SLC12A5	57468	hgsc.bcm.edu	37	20	44670123	44670123	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr20:44670123G>A	ENST00000454036.2	+	8	1128	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q	SLC12A5_ENST00000243964.3_Missense_Mutation_p.R337Q	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	360					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.R337Q(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TACTTCACCCGAAACAATGTC	0.577																																					p.R360Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1079A	20						.						87.0	80.0	83.0					20																	44670123		2203	4300	6503	44103530	SO:0001583	missense	57468	exon8			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1079G>A	20.37:g.44670123G>A	ENSP00000387694:p.Arg360Gln	Somatic		Capture	SOLID	Phase_I	44103530	NM_001134771	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	4.521	0.096680	0.08681	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	T;T	0.62788	-0.0;-0.0	4.77	1.61	0.23674	.	0.871020	0.10110	N	0.714844	T	0.40247	0.1109	N	0.24115	0.695	0.19775	N	0.999954	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.23154	-1.0196	10	0.12766	T	0.61	.	3.9039	0.09174	0.2607:0.0:0.4862:0.2531	.	360;337	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	Q	360;337	ENSP00000387694:R360Q;ENSP00000243964:R337Q	ENSP00000243964:R337Q	R	+	2	0	SLC12A5	44103530	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.079000	0.11357	0.619000	0.30197	0.655000	0.94253	CGA		0.577	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1		
CDS2	8760	hgsc.bcm.edu	37	20	5159548	5159548	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr20:5159548T>G	ENST00000460006.1	+	5	782	c.475T>G	c.(475-477)Ttg>Gtg	p.L159V	CDS2_ENST00000535100.1_5'UTR|CDS2_ENST00000379062.4_Missense_Mutation_p.L39V|CDS2_ENST00000379070.3_3'UTR	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	159					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)	p.L159V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						AGAAGAGCCTTTGCGGATTCT	0.398																																					p.L159V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T475G	20						.						179.0	165.0	170.0					20																	5159548		2203	4300	6503	5107548	SO:0001583	missense	8760	exon5			AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.475T>G	20.37:g.5159548T>G	ENSP00000419879:p.Leu159Val	Somatic		Capture	SOLID	Phase_I	5107548	NM_003818	B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Missense_Mutation	SNP	ENST00000460006.1	37	CCDS13088.1	.	.	.	.	.	.	.	.	.	.	T	19.23	3.788219	0.70337	.	.	ENSG00000101290	ENST00000460006;ENST00000450570;ENST00000379062	T;T;T	0.47869	0.83;0.83;0.83	4.94	1.47	0.22746	.	0.000000	0.85682	D	0.000000	T	0.60366	0.2263	M	0.74467	2.265	0.80722	D	1	P;D;P;P	0.59767	0.857;0.986;0.932;0.932	P;D;P;P	0.63283	0.458;0.913;0.859;0.859	T	0.58312	-0.7658	10	0.62326	D	0.03	-4.2688	7.9601	0.30066	0.0:0.4496:0.0:0.5504	.	39;159;159;159	E7EQ83;B3KM95;O95674;B3KNK4	.;.;CDS2_HUMAN;.	V	159;104;39	ENSP00000419879:L159V;ENSP00000403205:L104V;ENSP00000368352:L39V	ENSP00000368352:L39V	L	+	1	2	CDS2	5107548	0.220000	0.23631	0.998000	0.56505	0.997000	0.91878	0.613000	0.24299	0.069000	0.16605	0.533000	0.62120	TTG		0.398	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077858.2		
PTGIS	5740	hgsc.bcm.edu	37	20	48166609	48166609	+	Silent	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr20:48166609G>T	ENST00000244043.4	-	2	221	c.192C>A	c.(190-192)atC>atA	p.I64I	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	64					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)	p.I64I(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	TTACAGTAAAGATGTCACCGT	0.537																																					p.I64I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C192A	20						.						137.0	102.0	114.0					20																	48166609		2203	4300	6503	47600016	SO:0001819	synonymous_variant	5740	exon2				CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"""Cytochrome P450s"""	9603	protein-coding gene	gene with protein product	"""cytochrome P450, family 8, subfamily A, polypeptide 1"""	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.192C>A	20.37:g.48166609G>T		Somatic		Capture	SOLID	Phase_I	47600016	NM_000961	Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Silent	SNP	ENST00000244043.4	37	CCDS13419.1																																																																																				0.537	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2		
MCM8	84515	hgsc.bcm.edu	37	20	5948530	5948530	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr20:5948530C>T	ENST00000378896.3	+	10	1459	c.1082C>T	c.(1081-1083)tCt>tTt	p.S361F	MCM8_ENST00000265187.4_Missense_Mutation_p.S345F|MCM8_ENST00000378886.2_Missense_Mutation_p.S361F|MCM8_ENST00000378883.1_Missense_Mutation_p.S361F	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	361					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.S345F(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						GAAGCAAATTCTATTAGTAAT	0.323																																					p.S345F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1034T	20						.						86.0	92.0	90.0					20																	5948530		2203	4300	6503	5896530	SO:0001583	missense	84515	exon10			AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.1082C>T	20.37:g.5948530C>T	ENSP00000368174:p.Ser361Phe	Somatic		Capture	SOLID	Phase_I	5896530	NM_182802	B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.429763	0.83776	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.03689	4.01;3.84;3.91;4.03	5.75	5.75	0.90469	Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.16171	0.0389	M	0.76328	2.33	0.80722	D	1	D;D;D;P	0.63046	0.983;0.992;0.964;0.949	D;P;P;P	0.63488	0.915;0.861;0.864;0.758	T	0.14035	-1.0487	10	0.13470	T	0.59	-16.9961	19.9525	0.97208	0.0:1.0:0.0:0.0	.	361;361;345;361	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	F	361;361;361;345	ENSP00000368174:S361F;ENSP00000368161:S361F;ENSP00000368164:S361F;ENSP00000265187:S345F	ENSP00000265187:S345F	S	+	2	0	MCM8	5896530	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.811000	0.55620	2.719000	0.93026	0.655000	0.94253	TCT		0.323	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485	
SYCP2	10388	hgsc.bcm.edu	37	20	58489189	58489189	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr20:58489189C>A	ENST00000357552.3	-	11	977	c.752G>T	c.(751-753)aGa>aTa	p.R251I	SYCP2_ENST00000371001.2_Missense_Mutation_p.R251I			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	251					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.R251I(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GTCCTTAATTCTTTTAAATGC	0.284																																					p.R251I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G752T	20						.						70.0	70.0	70.0					20																	58489189		2201	4295	6496	57922584	SO:0001583	missense	10388	exon10			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.752G>T	20.37:g.58489189C>A	ENSP00000350162:p.Arg251Ile	Somatic		Capture	SOLID	Phase_I	57922584	NM_014258	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068819	0.36470	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.04083	3.71;3.71;3.71	4.78	-3.17	0.05202	.	1.077370	0.07089	N	0.838392	T	0.03564	0.0102	N	0.22421	0.69	0.30609	N	0.759717	B;P	0.45348	0.34;0.856	B;B	0.37198	0.178;0.243	T	0.43393	-0.9394	10	0.56958	D	0.05	-0.1757	10.4843	0.44713	0.0:0.5106:0.0:0.4894	.	251;251	A2A341;Q9BX26	.;SYCP2_HUMAN	I	251	ENSP00000360040:R251I;ENSP00000350162:R251I;ENSP00000402456:R251I	ENSP00000350162:R251I	R	-	2	0	SYCP2	57922584	0.262000	0.24073	0.924000	0.36721	0.760000	0.43138	-0.072000	0.11486	-0.559000	0.06110	-0.136000	0.14681	AGA		0.284	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258	
ZNF70	7621	hgsc.bcm.edu	37	22	24086597	24086597	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr22:24086597C>A	ENST00000341976.3	-	2	1191	c.731G>T	c.(730-732)aGa>aTa	p.R244I		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	244					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.R244I(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TGTATGAATTCTCTCGTGTTT	0.517																																					p.R244I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G731T	22						.						66.0	64.0	64.0					22																	24086597		2203	4300	6503	22416597	SO:0001583	missense	7621	exon2			X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.731G>T	22.37:g.24086597C>A	ENSP00000339314:p.Arg244Ile	Somatic		Capture	SOLID	Phase_I	22416597	NM_021916		Missense_Mutation	SNP	ENST00000341976.3	37	CCDS13812.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815916	0.50527	.	.	ENSG00000187792	ENST00000341976	T	0.24908	1.83	3.34	3.34	0.38264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40719	0.1128	M	0.69463	2.115	0.32029	N	0.599817	D	0.76494	0.999	P	0.61397	0.888	T	0.48948	-0.8989	9	0.59425	D	0.04	-17.2837	6.7019	0.23230	0.0:0.8724:0.0:0.1276	.	244	Q9UC06	ZNF70_HUMAN	I	244	ENSP00000339314:R244I	ENSP00000339314:R244I	R	-	2	0	ZNF70	22416597	0.000000	0.05858	0.050000	0.19076	0.859000	0.49053	0.957000	0.29215	2.175000	0.68902	0.456000	0.33151	AGA		0.517	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916	
RHBDD3	25807	hgsc.bcm.edu	37	22	29656389	29656389	+	Silent	SNP	G	G	T	rs2231398	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr22:29656389G>T	ENST00000216085.7	-	6	1333	c.909C>A	c.(907-909)gcC>gcA	p.A303A	CTA-984G1.5_ENST00000433125.1_RNA	NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3	303					liver development (GO:0001889)|MAPK cascade (GO:0000165)|negative regulation of natural killer cell activation (GO:0032815)|positive regulation of protein catabolic process (GO:0045732)|regulation of acute inflammatory response (GO:0002673)|regulation of protein secretion (GO:0050708)|response to xenobiotic stimulus (GO:0009410)	integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			lung(1)|ovary(1)	2						CAAGAAGCGAGGCCTGGATGC	0.667													G|||	858	0.171326	0.1006	0.245	5008	,	,		17314	0.0397		0.3608	False		,,,				2504	0.1554				p.A303A												.	.	0			c.C909A	22						.	G		631,3775		46,539,1618	24.0	23.0	23.0		909	0.6	1.0	22	dbSNP_98	23	3246,5352		622,2002,1675	no	coding-synonymous	RHBDD3	NM_012265.1		668,2541,3293	TT,TG,GG		37.753,14.3214,29.8139		303/387	29656389	3877,9127	2203	4299	6502	27986389	SO:0001819	synonymous_variant	25807	exon6			AL050346	CCDS13850.1	22q12.2	2006-02-22	2006-02-22	2006-02-22	ENSG00000100263	ENSG00000100263			1308	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 3"""	C22orf3		10591208, 15105437	Standard	NM_012265		Approved	PTAG	uc003aeq.1	Q9Y3P4	OTTHUMG00000151032	ENST00000216085.7:c.909C>A	22.37:g.29656389G>T		Somatic		Capture	SOLID	Phase_I	27986389	NM_012265	Q6I9X3|Q9UGQ7	Silent	SNP	ENST00000216085.7	37	CCDS13850.1																																																																																				0.667	RHBDD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321085.1	NM_012265	
SEC14L3	266629	hgsc.bcm.edu	37	22	30856116	30856116	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr22:30856116G>A	ENST00000215812.4	-	12	1185	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	SEC14L3_ENST00000415957.2_Intron|SEC14L3_ENST00000539629.1_Silent_p.F306F|SEC14L3_ENST00000401751.1_Silent_p.F306F|SEC14L3_ENST00000540910.1_Silent_p.F288F|SEC14L3_ENST00000402286.1_Silent_p.F288F|SEC14L3_ENST00000403066.1_Intron	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	365	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.F365F(1)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	AGGTGTTGTCGAAGCGTAGGA	0.542																																					p.F365F	Esophageal Squamous(108;290 1516 3584 23771 37333)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1095T	22						.						126.0	110.0	115.0					22																	30856116		2203	4300	6503	29186116	SO:0001819	synonymous_variant	266629	exon12			AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.1095C>T	22.37:g.30856116G>A		Somatic		Capture	SOLID	Phase_I	29186116	NM_174975	E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Silent	SNP	ENST00000215812.4	37	CCDS13877.1																																																																																				0.542	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975	
GRAP2	9402	hgsc.bcm.edu	37	22	40356095	40356095	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr22:40356095G>T	ENST00000344138.4	+	4	470	c.207G>T	c.(205-207)gaG>gaT	p.E69D	RP3-370M22.8_ENST00000424496.1_RNA|GRAP2_ENST00000543252.1_Intron|GRAP2_ENST00000399090.2_Nonsense_Mutation_p.E13*|GRAP2_ENST00000407075.3_Missense_Mutation_p.E69D|GRAP2_ENST00000540310.1_Intron|GRAP2_ENST00000478445.1_3'UTR|GRAP2_ENST00000544756.1_5'UTR	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	69	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)	p.E69D(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						ACCAGGCAGAGAACTTACTCA	0.547																																					p.E69D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G207T	22						.						255.0	263.0	260.0					22																	40356095		2203	4300	6503	38686041	SO:0001583	missense	9402	exon4			AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"""SH2 domain containing"""	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.207G>T	22.37:g.40356095G>T	ENSP00000339186:p.Glu69Asp	Somatic		Capture	SOLID	Phase_I	38686041	NM_004810	B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP	ENST00000344138.4	37	CCDS13999.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.187696|6.187696	0.97357|0.97357	.|.	.|.	ENSG00000100351|ENSG00000100351	ENST00000344138;ENST00000544006;ENST00000420971;ENST00000407075|ENST00000399090	D;D;D|.	0.91894|.	-2.93;-2.93;-2.93|.	5.31|5.31	3.22|3.22	0.36961|0.36961	SH2 motif (5);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.73458|.	0.3589|.	M|M	0.83483|0.83483	2.645|2.645	0.80722|0.80722	D|D	1|1	D;P|.	0.89917|.	1.0;0.845|.	D;B|.	0.87578|.	0.998;0.346|.	T|.	0.76152|.	-0.3064|.	10|.	0.87932|0.87932	D|D	0|0	-27.6342|-27.6342	9.0202|9.0202	0.36195|0.36195	0.2372:0.0:0.7628:0.0|0.2372:0.0:0.7628:0.0	.|.	43;69|.	B7Z8F8;O75791|.	.;GRAP2_HUMAN|.	D|X	69;43;69;69|13	ENSP00000339186:E69D;ENSP00000396355:E69D;ENSP00000385607:E69D|.	ENSP00000339186:E69D|ENSP00000382040:E13X	E|E	+|+	3|1	2|0	GRAP2|GRAP2	38686041|38686041	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.375000|2.375000	0.44283|0.44283	1.208000|1.208000	0.43306|0.43306	0.655000|0.655000	0.94253|0.94253	GAG|GAA		0.547	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321295.1	NM_004810	
EP300	2033	hgsc.bcm.edu	37	22	41533736	41533736	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr22:41533736C>T	ENST00000263253.7	+	8	2921	c.1702C>T	c.(1702-1704)Cgg>Tgg	p.R568W		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	568	KIX. {ECO:0000255|PROSITE- ProRule:PRU00311}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.R568W(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TACTGGAATTCGGAAACAGTG	0.448			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																												p.R568W			Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1702T	22						.						112.0	95.0	101.0					22																	41533736		2203	4300	6503	39863682	SO:0001583	missense	2033	exon8	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.1702C>T	22.37:g.41533736C>T	ENSP00000263253:p.Arg568Trp	Somatic		Capture	SOLID	Phase_I	39863682	NM_001429	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723598	0.89298	.	.	ENSG00000100393	ENST00000263253	D	0.84516	-1.86	5.85	4.81	0.61882	Coactivator CBP, KIX (4);	0.000000	0.41605	D	0.000855	D	0.89269	0.6667	L	0.40543	1.245	0.50039	D	0.999843	D	0.89917	1.0	D	0.87578	0.998	D	0.90560	0.4515	10	0.87932	D	0	-16.4666	16.1619	0.81727	0.1345:0.8655:0.0:0.0	.	568	Q09472	EP300_HUMAN	W	568	ENSP00000263253:R568W	ENSP00000263253:R568W	R	+	1	2	EP300	39863682	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.324000	0.52022	1.435000	0.47434	0.557000	0.71058	CGG		0.448	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
CPT1B	1375	hgsc.bcm.edu	37	22	51014508	51014508	+	Nonsense_Mutation	SNP	G	G	A	rs374942225		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr22:51014508G>A	ENST00000360719.2	-	7	870	c.733C>T	c.(733-735)Cga>Tga	p.R245*	CPT1B_ENST00000457250.1_Nonsense_Mutation_p.R211*|CPT1B_ENST00000312108.7_Nonsense_Mutation_p.R245*|CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000405237.3_Nonsense_Mutation_p.R245*|CPT1B_ENST00000395650.2_Nonsense_Mutation_p.R245*|CPT1B_ENST00000440709.1_Nonsense_Mutation_p.R245*|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Nonsense_Mutation_p.R42*	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	245					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.R245*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CTCCTGCCTCGAAGGTAGATG	0.582											OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R245X	Esophageal Squamous(170;988 1933 25577 30295 48163)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C733T	22						.	G	stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	102.0	89.0	93.0		631,733,733,733,733,733,733	3.8	1.0	22		93	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained	CPT1B	NM_001145134.1,NM_001145135.1,NM_001145136.1,NM_001145137.1,NM_004377.3,NM_152245.2,NM_152246.2	,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	211/739,245/773,245/692,245/773,245/773,245/773,245/773	51014508	1,13005	2203	4300	6503	49361374	SO:0001587	stop_gained	1375	exon7			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.733C>T	22.37:g.51014508G>A	ENSP00000353945:p.Arg245*	Somatic	974	Capture	SOLID	Phase_I	49361374	NM_001145136	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Nonsense_Mutation	SNP	ENST00000360719.2	37	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	G	36	5.597902	0.96602	0.0	1.16E-4	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	.	.	.	4.81	3.76	0.43208	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4107	9.9502	0.41634	0.0:0.0:0.63:0.37	.	.	.	.	X	245;245;245;211;245;42;245	.	ENSP00000312189:R245X	R	-	1	2	CPT1B	49361374	0.582000	0.26749	0.967000	0.41034	0.997000	0.91878	1.018000	0.30002	1.210000	0.43336	0.561000	0.74099	CGA		0.582	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246	
SUPT16H	11198	hgsc.bcm.edu	37	14	21826486	21826486	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr14:21826486A>C	ENST00000216297.2	-	20	2740	c.2402T>G	c.(2401-2403)tTt>tGt	p.F801C		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	801					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.F801C(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CAAGTCCCTAAAAGGCACTTC	0.338																																					p.F801C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2402G	14						.						71.0	65.0	67.0					14																	21826486		2202	4300	6502	20896326	SO:0001583	missense	11198	exon20			AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.2402T>G	14.37:g.21826486A>C	ENSP00000216297:p.Phe801Cys	Somatic		Capture	SOLID	Phase_I	20896326	NM_007192	Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.179673	0.78564	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.85137	0.5628	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.88394	0.3010	9	0.72032	D	0.01	-11.6632	14.9874	0.71359	1.0:0.0:0.0:0.0	.	801	Q9Y5B9	SP16H_HUMAN	C	801	.	ENSP00000216297:F801C	F	-	2	0	SUPT16H	20896326	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.325000	0.90007	2.190000	0.69967	0.533000	0.62120	TTT		0.338	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2		
PCK2	5106	hgsc.bcm.edu	37	14	24567560	24567560	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr14:24567560C>T	ENST00000216780.4	+	3	692	c.424C>T	c.(424-426)Cga>Tga	p.R142*	PCK2_ENST00000561286.1_Nonsense_Mutation_p.R8*|PCK2_ENST00000559250.1_Nonsense_Mutation_p.R154*|PCK2_ENST00000558096.1_Nonsense_Mutation_p.R8*|NRL_ENST00000561028.1_Intron|PCK2_ENST00000545054.2_Nonsense_Mutation_p.R8*|PCK2_ENST00000396973.4_Nonsense_Mutation_p.R142*	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	142					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)	p.R142*(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		TGATTTCCAGCGAGCTGTGGA	0.597																																					p.R142X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C424T	14						.						51.0	44.0	47.0					14																	24567560		2203	4300	6503	23637400	SO:0001587	stop_gained	5106	exon3			AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.424C>T	14.37:g.24567560C>T	ENSP00000216780:p.Arg142*	Somatic		Capture	SOLID	Phase_I	23637400	NM_001018073	O43253|Q86U01|Q9BV62	Nonsense_Mutation	SNP	ENST00000216780.4	37	CCDS9609.1	.	.	.	.	.	.	.	.	.	.	C	38	6.678185	0.97755	.	.	ENSG00000100889	ENST00000216780;ENST00000396973;ENST00000545054	.	.	.	5.4	3.33	0.38152	.	0.537282	0.20108	N	0.099066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-15.159	10.5017	0.44810	0.5536:0.4464:0.0:0.0	.	.	.	.	X	142;142;8	.	ENSP00000216780:R142X	R	+	1	2	PCK2	23637400	0.967000	0.33354	0.911000	0.35937	0.932000	0.56968	1.386000	0.34419	1.213000	0.43380	0.462000	0.41574	CGA		0.597	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073	
PCK2	5106	hgsc.bcm.edu	37	14	24572432	24572432	+	Missense_Mutation	SNP	G	G	A	rs148839304		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr14:24572432G>A	ENST00000216780.4	+	9	1704	c.1436G>A	c.(1435-1437)cGc>cAc	p.R479H	PCK2_ENST00000561286.1_Missense_Mutation_p.R345H|PCK2_ENST00000559250.1_Missense_Mutation_p.R491H|PCK2_ENST00000558096.1_Intron|NRL_ENST00000561028.1_Intron|PCK2_ENST00000545054.2_Missense_Mutation_p.R345H	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	479					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)	p.R479H(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		AGCGCCATGCGCTCTGAGTCC	0.577																																					p.R479H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1436A	14						.	G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	114.0	87.0	96.0		1436	5.6	1.0	14	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PCK2	NM_004563.2	29	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	probably-damaging	479/641	24572432	3,13003	2203	4300	6503	23642272	SO:0001583	missense	5106	exon9			AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1436G>A	14.37:g.24572432G>A	ENSP00000216780:p.Arg479His	Somatic		Capture	SOLID	Phase_I	23642272	NM_004563	O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	ENST00000216780.4	37	CCDS9609.1	.	.	.	.	.	.	.	.	.	.	G	33	5.262998	0.95399	4.54E-4	1.16E-4	ENSG00000100889	ENST00000216780;ENST00000545054	T;T	0.04502	3.61;3.61	5.61	5.61	0.85477	Phosphoenolpyruvate carboxykinase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.32071	0.0817	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	T	0.30707	-0.9969	10	0.87932	D	0	-10.1778	17.4888	0.87696	0.0:0.0:1.0:0.0	.	479;479	Q16822;Q6IB91	PCKGM_HUMAN;.	H	479;345	ENSP00000216780:R479H;ENSP00000441826:R345H	ENSP00000216780:R479H	R	+	2	0	PCK2	23642272	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.792000	0.85828	2.813000	0.96785	0.655000	0.94253	CGC		0.577	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073	
PRKD1	5587	hgsc.bcm.edu	37	14	30105546	30105546	+	Silent	SNP	G	G	A	rs55831426	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr14:30105546G>A	ENST00000331968.5	-	7	1369	c.1140C>T	c.(1138-1140)ggC>ggT	p.G380G	PRKD1_ENST00000551644.1_5'Flank|PRKD1_ENST00000415220.2_Silent_p.G388G	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	380					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|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 histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.G380G(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CTTGCATCTCGCCACTGTCGT	0.537													G|||	11	0.00219649	0.0068	0.0029	5008	,	,		15997	0.0		0.0	False		,,,				2504	0.0				p.G380G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1140T	14						.	G		29,4377	34.3+/-65.2	1,27,2175	369.0	279.0	309.0		1140	-1.4	0.9	14	dbSNP_129	309	0,8600		0,0,4300	no	coding-synonymous	PRKD1	NM_002742.2		1,27,6475	AA,AG,GG		0.0,0.6582,0.223		380/913	30105546	29,12977	2203	4300	6503	29175297	SO:0001819	synonymous_variant	5587	exon7				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1140C>T	14.37:g.30105546G>A		Somatic		Capture	SOLID	Phase_I	29175297	NM_002742	A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	CCDS9637.1																																																																																				0.537	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742	
ARHGAP5	394	hgsc.bcm.edu	37	14	32563038	32563038	+	Missense_Mutation	SNP	G	G	A	rs193025304		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr14:32563038G>A	ENST00000345122.3	+	2	3478	c.3163G>A	c.(3163-3165)Gat>Aat	p.D1055N	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.D1055N|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.D1055N|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.D1055N	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1055					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.D1055N(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GAAAAAACTCGATCCAAACCT	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		18640	0.001		0.0	False		,,,				2504	0.0				p.D1055N	NSCLC(9;77 350 3443 29227 41353)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3163A	14						.						68.0	67.0	68.0					14																	32563038		2202	4299	6501	31632789	SO:0001583	missense	394	exon2			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.3163G>A	14.37:g.32563038G>A	ENSP00000371897:p.Asp1055Asn	Somatic		Capture	SOLID	Phase_I	31632789	NM_001173	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	CCDS32062.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	14.49	2.550767	0.45383	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.09630	2.96;2.96;2.96;2.96	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.13884	0.0336	L	0.51422	1.61	0.80722	D	1	P;B	0.36282	0.546;0.41	B;B	0.35278	0.199;0.098	T	0.05305	-1.0893	10	0.25106	T	0.35	.	19.9348	0.97133	0.0:0.0:1.0:0.0	.	1055;1055	Q13017-2;Q13017	.;RHG05_HUMAN	N	1055	ENSP00000452222:D1055N;ENSP00000441692:D1055N;ENSP00000371897:D1055N;ENSP00000393307:D1055N	ENSP00000371897:D1055N	D	+	1	0	ARHGAP5	31632789	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.789000	0.95967	0.591000	0.81541	GAT		0.408	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055	
AKAP6	9472	hgsc.bcm.edu	37	14	33292209	33292209	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr14:33292209C>T	ENST00000280979.4	+	13	5360	c.5190C>T	c.(5188-5190)agC>agT	p.S1730S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1730					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.S1730S(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTGATGAAAGCGATGTCAATG	0.468																																					p.S1730S	Melanoma(49;821 1200 7288 13647 42351)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5190T	14						.						182.0	151.0	161.0					14																	33292209		2203	4300	6503	32361960	SO:0001819	synonymous_variant	9472	exon13			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5190C>T	14.37:g.33292209C>T		Somatic		Capture	SOLID	Phase_I	32361960	NM_004274	A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	CCDS9644.1																																																																																				0.468	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274	
PPP2R3C	55012	hgsc.bcm.edu	37	14	35554883	35554883	+	Silent	SNP	G	G	A	rs369628097		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr14:35554883G>A	ENST00000261475.5	-	13	1628	c.1275C>T	c.(1273-1275)atC>atT	p.I425I		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	425					activation of protein kinase activity (GO:0032147)|B cell homeostasis (GO:0001782)|positive regulation of B cell differentiation (GO:0045579)|regulation of antimicrobial humoral response (GO:0002759)|regulation of mitochondrial depolarization (GO:0051900)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.I425I(1)		central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		CATTCAAATCGATTAGAATGG	0.383																																					p.I425I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1275T	14						.	G		0,4406		0,0,2203	136.0	128.0	131.0		1275	-4.7	1.0	14		131	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PPP2R3C	NM_017917.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		425/454	35554883	1,13005	2203	4300	6503	34624634	SO:0001819	synonymous_variant	55012	exon13			AK000651	CCDS9654.1	14q13.2	2010-06-18	2010-06-18	2007-01-22	ENSG00000092020	ENSG00000092020		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	17485	protein-coding gene	gene with protein product		615902	"""chromosome 14 open reading frame 10"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma"""	C14orf10		12167160, 16129705	Standard	NM_017917		Approved	FLJ20644, G4-1, G5PR	uc001wss.3	Q969Q6	OTTHUMG00000140224	ENST00000261475.5:c.1275C>T	14.37:g.35554883G>A		Somatic		Capture	SOLID	Phase_I	34624634	NM_017917	B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9	Silent	SNP	ENST00000261475.5	37	CCDS9654.1																																																																																				0.383	PPP2R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276687.1	NM_017917	
LRFN5	145581	hgsc.bcm.edu	37	14	42356404	42356404	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr14:42356404C>T	ENST00000298119.4	+	3	1765	c.576C>T	c.(574-576)tcC>tcT	p.S192S	LRFN5_ENST00000554120.1_Silent_p.S192S|LRFN5_ENST00000554171.1_Silent_p.S192S	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	192						integral component of membrane (GO:0016021)		p.S192S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GGACCTTCTCCCATTTGCACA	0.438										HNSCC(30;0.082)																											p.S192S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C576T	14						.						70.0	62.0	65.0					14																	42356404		2203	4300	6503	41426154	SO:0001819	synonymous_variant	145581	exon3			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.576C>T	14.37:g.42356404C>T		Somatic		Capture	SOLID	Phase_I	41426154	NM_152447	B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	37	CCDS9678.1																																																																																				0.438	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447	
FSCB	84075	hgsc.bcm.edu	37	14	44976048	44976048	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr14:44976048G>T	ENST00000340446.4	-	1	434	c.143C>A	c.(142-144)tCt>tAt	p.S48Y	RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	48						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.S48Y(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TACTCTAATAGACTCATAGGC	0.433																																					p.S48Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C143A	14						.						170.0	167.0	168.0					14																	44976048		2203	4300	6503	44045798	SO:0001583	missense	84075	exon1			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.143C>A	14.37:g.44976048G>T	ENSP00000344579:p.Ser48Tyr	Somatic		Capture	SOLID	Phase_I	44045798	NM_032135	Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.337403	0.24253	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.16073	2.37	5.49	0.722	0.18225	.	.	.	.	.	T	0.30541	0.0768	L	0.50333	1.59	0.09310	N	1	D	0.89917	1.0	D	0.69479	0.964	T	0.08889	-1.0700	9	0.72032	D	0.01	-4.6615	8.6398	0.33970	0.0:0.4169:0.3901:0.193	.	48	Q5H9T9	FSCB_HUMAN	Y	48	ENSP00000344579:S48Y	ENSP00000344579:S48Y	S	-	2	0	FSCB	44045798	0.000000	0.05858	0.031000	0.17742	0.094000	0.18550	0.372000	0.20467	0.331000	0.23511	0.555000	0.69702	TCT		0.433	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135	
MIS18BP1	55320	hgsc.bcm.edu	37	14	45687589	45687589	+	Missense_Mutation	SNP	C	C	T	rs377170034		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr14:45687589C>T	ENST00000310806.4	-	12	3196	c.2738G>A	c.(2737-2739)cGa>cAa	p.R913Q		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	913	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R913Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TTCAGGAGATCGAGAACCTAC	0.438																																					p.R913Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2738A	14						.	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	89.0	88.0	88.0		2738	4.6	1.0	14		88	0,8600		0,0,4300	no	missense	MIS18BP1	NM_018353.4	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	913/1133	45687589	1,13005	2203	4300	6503	44757339	SO:0001583	missense	55320	exon12			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2738G>A	14.37:g.45687589C>T	ENSP00000309790:p.Arg913Gln	Somatic		Capture	SOLID	Phase_I	44757339	NM_018353	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801694	0.70682	2.27E-4	0.0	ENSG00000129534	ENST00000310806	T	0.66995	-0.24	5.53	4.63	0.57726	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.053682	0.85682	D	0.000000	T	0.75874	0.3909	L	0.52126	1.63	0.45867	D	0.998728	D	0.89917	1.0	D	0.80764	0.994	T	0.77507	-0.2562	10	0.87932	D	0	-9.3841	12.4978	0.55937	0.0:0.9169:0.0:0.0831	.	913	Q6P0N0	M18BP_HUMAN	Q	913	ENSP00000309790:R913Q	ENSP00000309790:R913Q	R	-	2	0	MIS18BP1	44757339	1.000000	0.71417	1.000000	0.80357	0.432000	0.31715	2.606000	0.46291	2.618000	0.88619	0.585000	0.79938	CGA		0.438	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2		
SOS2	6655	hgsc.bcm.edu	37	14	50612252	50612252	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr14:50612252G>T	ENST00000216373.5	-	15	2721	c.2447C>A	c.(2446-2448)tCt>tAt	p.S816Y	SOS2_ENST00000543680.1_Missense_Mutation_p.S783Y	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	816	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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 small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S816Y(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TAAATTTGGAGAATTTATTTC	0.333																																					p.S816Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2447A	14						.						102.0	103.0	103.0					14																	50612252		2203	4300	6503	49682002	SO:0001583	missense	6655	exon15			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.2447C>A	14.37:g.50612252G>T	ENSP00000216373:p.Ser816Tyr	Somatic		Capture	SOLID	Phase_I	49682002	NM_006939	B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696081	0.88830	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.33865	1.39;1.39	5.73	5.73	0.89815	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.73187	0.3555	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.989	T	0.81400	-0.0950	10	0.87932	D	0	.	19.5163	0.95167	0.0:0.0:1.0:0.0	.	783;816	B7ZKT6;Q07890	.;SOS2_HUMAN	Y	816;783	ENSP00000216373:S816Y;ENSP00000445328:S783Y	ENSP00000216373:S816Y	S	-	2	0	SOS2	49682002	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.937000	0.87672	2.693000	0.91896	0.655000	0.94253	TCT		0.333	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2		
SOS2	6655	hgsc.bcm.edu	37	14	50626379	50626379	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr14:50626379G>T	ENST00000216373.5	-	10	1896	c.1622C>A	c.(1621-1623)tCt>tAt	p.S541Y	SOS2_ENST00000543680.1_Missense_Mutation_p.S508Y|SOS2_ENST00000555794.1_5'UTR	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	541	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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 small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S541Y(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					ATAATGAAGAGAAATAAGGGC	0.358																																					p.S541Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1622A	14						.						102.0	107.0	105.0					14																	50626379		2203	4300	6503	49696129	SO:0001583	missense	6655	exon10			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1622C>A	14.37:g.50626379G>T	ENSP00000216373:p.Ser541Tyr	Somatic		Capture	SOLID	Phase_I	49696129	NM_006939	B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331754	0.60853	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	D;D	0.87966	-2.32;-2.32	5.48	5.48	0.80851	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.094118	0.85682	D	0.000000	D	0.90611	0.7056	L	0.51422	1.61	0.58432	D	0.999999	D;P;D	0.71674	0.973;0.77;0.998	P;B;P	0.58210	0.793;0.265;0.835	D	0.90710	0.4627	10	0.59425	D	0.04	.	19.6951	0.96022	0.0:0.0:1.0:0.0	.	508;571;541	B7ZKT6;Q59G32;Q07890	.;.;SOS2_HUMAN	Y	541;508	ENSP00000216373:S541Y;ENSP00000445328:S508Y	ENSP00000216373:S541Y	S	-	2	0	SOS2	49696129	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.743000	0.98849	2.728000	0.93425	0.585000	0.79938	TCT		0.358	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2		
ATP5S	27109	hgsc.bcm.edu	37	14	50790762	50790762	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr14:50790762C>A	ENST00000311459.7	+	4	841	c.461C>A	c.(460-462)aCc>aAc	p.T154N	RP11-247L20.4_ENST00000555403.1_lincRNA|ATP5S_ENST00000554438.1_3'UTR|ATP5S_ENST00000358473.1_Missense_Mutation_p.T126N|ATP5S_ENST00000245448.6_Intron	NM_001003803.2	NP_001003803.1	Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)	154					ATP biosynthetic process (GO:0006754)|hydrogen ion transmembrane transport (GO:1902600)|proton transport (GO:0015992)	mitochondrial inner membrane (GO:0005743)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|metal ion binding (GO:0046872)	p.T154N(1)		breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		TTACAAAAAACCATATTGGAA	0.373																																					p.T154N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C461A	14						.						92.0	91.0	92.0					14																	50790762		2203	4300	6503	49860512	SO:0001583	missense	27109	exon4			U79253	CCDS32075.1, CCDS32076.1, CCDS45102.1	14q21.3	2011-04-13	2010-06-11			ENSG00000125375			18799	protein-coding gene	gene with protein product			"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B)"""			11744738, 8619474	Standard	NM_015684		Approved	HSU79253, ATPW	uc001wxw.2	Q99766		ENST00000311459.7:c.461C>A	14.37:g.50790762C>A	ENSP00000308334:p.Thr154Asn	Somatic		Capture	SOLID	Phase_I	49860512	NM_001003803	A8K1U3|D9N156|Q8WWX3|Q96F77	Missense_Mutation	SNP	ENST00000311459.7	37	CCDS32075.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898176	0.72639	.	.	ENSG00000125375;ENSG00000125375;ENSG00000258447	ENST00000311459;ENST00000358473;ENST00000553905	T;T	0.29917	1.55;1.55	5.92	5.03	0.67393	.	0.073772	0.85682	D	0.000000	T	0.27278	0.0669	N	0.25485	0.75	0.39833	D	0.972995	P;P	0.47762	0.9;0.575	B;B	0.42386	0.386;0.156	T	0.08513	-1.0718	10	0.54805	T	0.06	-31.348	17.2283	0.86977	0.0:0.1268:0.8731:0.0	.	126;154	Q8WXQ4;Q99766	.;ATP5S_HUMAN	N	154;126;126	ENSP00000308334:T154N;ENSP00000351258:T126N	ENSP00000308334:T154N	T	+	2	0	RP11-247L20.2;ATP5S	49860512	1.000000	0.71417	0.972000	0.41901	0.932000	0.56968	4.319000	0.59197	1.525000	0.49052	-0.211000	0.12701	ACC		0.373	ATP5S-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410761.1	NM_015684	
WDHD1	11169	hgsc.bcm.edu	37	14	55429796	55429796	+	Missense_Mutation	SNP	C	C	T	rs139751226		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr14:55429796C>T	ENST00000360586.3	-	19	2470	c.2405G>A	c.(2404-2406)cGc>cAc	p.R802H	WDHD1_ENST00000420358.2_Missense_Mutation_p.R679H|WDHD1_ENST00000359167.4_Missense_Mutation_p.R320H|WDHD1_ENST00000421192.1_Missense_Mutation_p.R679H	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	802					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.R802H(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TTTCCGAGAGCGAGAAGCATA	0.418																																					p.R802H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2405A	14						.	C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	65.0	65.0	65.0		2036,2405	5.3	1.0	14	dbSNP_134	65	0,8600		0,0,4300	no	missense,missense	WDHD1	NM_001008396.2,NM_007086.3	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	679/1007,802/1130	55429796	1,13005	2203	4300	6503	54499546	SO:0001583	missense	11169	exon19			AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.2405G>A	14.37:g.55429796C>T	ENSP00000353793:p.Arg802His	Somatic		Capture	SOLID	Phase_I	54499546	NM_007086	C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961800	0.92791	2.27E-4	0.0	ENSG00000198554	ENST00000360586;ENST00000359167;ENST00000421192	T;T;T	0.68181	0.05;0.6;-0.31	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.82875	0.5132	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.91635	0.999;0.81	T	0.82587	-0.0383	10	0.39692	T	0.17	.	18.8498	0.92224	0.0:1.0:0.0:0.0	.	320;802	F8W7P7;O75717	.;WDHD1_HUMAN	H	802;320;679	ENSP00000353793:R802H;ENSP00000352085:R320H;ENSP00000391049:R679H	ENSP00000352085:R320H	R	-	2	0	WDHD1	54499546	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.497000	0.66924	2.466000	0.83321	0.462000	0.41574	CGC		0.418	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086	
KCNH5	27133	hgsc.bcm.edu	37	14	63174940	63174940	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr14:63174940G>T	ENST00000322893.7	-	11	2521	c.2253C>A	c.(2251-2253)agC>agA	p.S751R	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	751					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.S751R(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CAGTCACCACGCTGGTTCCGG	0.532																																					p.S751R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2253A	14						.						111.0	96.0	101.0					14																	63174940		2203	4300	6503	62244693	SO:0001583	missense	27133	exon11			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2253C>A	14.37:g.63174940G>T	ENSP00000321427:p.Ser751Arg	Somatic		Capture	SOLID	Phase_I	62244693	NM_139318	C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.446727	0.25987	.	.	ENSG00000140015	ENST00000322893	D	0.98987	-5.3	5.52	-7.63	0.01290	.	0.054303	0.64402	D	0.000001	D	0.96393	0.8823	L	0.40543	1.245	0.80722	D	1	B	0.17667	0.023	B	0.12156	0.007	T	0.73040	-0.4108	10	0.24483	T	0.36	.	20.6776	0.99705	0.269:0.0:0.731:0.0	.	751	Q8NCM2	KCNH5_HUMAN	R	751	ENSP00000321427:S751R	ENSP00000321427:S751R	S	-	3	2	KCNH5	62244693	0.009000	0.17119	0.910000	0.35882	0.923000	0.55619	-1.245000	0.02899	-1.219000	0.02597	-1.170000	0.01741	AGC		0.532	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318	
MTHFD1	4522	hgsc.bcm.edu	37	14	64894152	64894152	+	Missense_Mutation	SNP	G	G	A	rs373176746		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr14:64894152G>A	ENST00000545908.1	+	12	1622	c.1393G>A	c.(1393-1395)Gtg>Atg	p.V465M	MTHFD1_ENST00000216605.8_Missense_Mutation_p.V409M|CTD-2555O16.2_ENST00000556640.1_RNA			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	409	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)	p.V409M(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	CTTTGCGTGTGTGCGACAGCC	0.532																																					p.V409M	Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1225A	14						.	G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	149.0	130.0	136.0		1225	5.9	1.0	14		136	0,8600		0,0,4300	no	missense	MTHFD1	NM_005956.3	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	409/936	64894152	1,13005	2203	4300	6503	63963905	SO:0001583	missense	4522	exon12			J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.1393G>A	14.37:g.64894152G>A	ENSP00000438588:p.Val465Met	Somatic		Capture	SOLID	Phase_I	63963905	NM_005956	B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37		.	.	.	.	.	.	.	.	.	.	G	30	5.057527	0.93846	2.27E-4	0.0	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.53481	0.1799	M	0.75150	2.29	0.80722	D	1	P;P;D	0.59767	0.939;0.923;0.986	P;P;D	0.65987	0.591;0.513;0.94	T	0.52124	-0.8617	10	0.66056	D	0.02	-20.3103	20.2983	0.98569	0.0:0.0:1.0:0.0	.	465;409;409	F5H2F4;P11586;G3V2B8	.;C1TC_HUMAN;.	M	465;409;465;389	ENSP00000438588:V465M;ENSP00000450560:V409M;ENSP00000216605:V465M;ENSP00000451309:V389M	ENSP00000216605:V409M	V	+	1	0	MTHFD1	63963905	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.872000	0.87187	2.802000	0.96397	0.655000	0.94253	GTG		0.532	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1		
MTHFD1	4522	hgsc.bcm.edu	37	14	64905828	64905828	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr14:64905828G>T	ENST00000545908.1	+	17	2009	c.1780G>T	c.(1780-1782)Gat>Tat	p.D594Y	CTD-2555O16.4_ENST00000609125.1_RNA|MTHFD1_ENST00000216605.8_Missense_Mutation_p.D538Y|CTD-2555O16.2_ENST00000556640.1_RNA			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	538	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)	p.D538Y(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	GGATACCAATGATAGATTCCT	0.423																																					p.D538Y	Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1612T	14						.						110.0	100.0	103.0					14																	64905828		2203	4300	6503	63975581	SO:0001583	missense	4522	exon17			J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.1780G>T	14.37:g.64905828G>T	ENSP00000438588:p.Asp594Tyr	Somatic		Capture	SOLID	Phase_I	63975581	NM_005956	B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37		.	.	.	.	.	.	.	.	.	.	G	27.0	4.792106	0.90453	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.77572	0.4150	H	0.98682	4.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.997	D	0.85463	0.1168	10	0.87932	D	0	-27.2189	20.5827	0.99408	0.0:0.0:1.0:0.0	.	594;538;538	F5H2F4;P11586;G3V2B8	.;C1TC_HUMAN;.	Y	594;538;594;518	ENSP00000438588:D594Y;ENSP00000450560:D538Y;ENSP00000216605:D594Y;ENSP00000451309:D518Y	ENSP00000216605:D538Y	D	+	1	0	MTHFD1	63975581	1.000000	0.71417	0.892000	0.35008	0.841000	0.47740	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	GAT		0.423	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1		
SPTB	6710	hgsc.bcm.edu	37	14	65241933	65241933	+	Silent	SNP	G	G	A	rs4902311	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr14:65241933G>A	ENST00000389721.5	-	22	4784	c.4752C>T	c.(4750-4752)aaC>aaT	p.N1584N	SPTB_ENST00000556626.1_Silent_p.N1584N|SPTB_ENST00000542895.1_Silent_p.N1584N|SPTB_ENST00000389720.3_Silent_p.N1584N|SPTB_ENST00000389722.3_Silent_p.N1584N	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1584					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)			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)		GCTGTGCCTCGTTGGCGTCCC	0.652													G|||	160	0.0319489	0.0083	0.0461	5008	,	,		18831	0.0258		0.0746	False		,,,				2504	0.0164				p.N1584N												.	.	0			c.C4752T	14						.	G	,	72,4334	64.7+/-102.0	1,70,2132	95.0	67.0	76.0		4752,4752	0.6	1.0	14	dbSNP_111	76	644,7956	164.3+/-216.7	24,596,3680	no	coding-synonymous,coding-synonymous	SPTB	NM_000347.5,NM_001024858.2	,	25,666,5812	AA,AG,GG		7.4884,1.6341,5.5052	,	1584/2138,1584/2329	65241933	716,12290	2203	4300	6503	64311686	SO:0001819	synonymous_variant	6710	exon22				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.4752C>T	14.37:g.65241933G>A		Somatic		Capture	SOLID	Phase_I	64311686	NM_000347	Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	CCDS32100.1																																																																																				0.652	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1		
FUT8	2530	hgsc.bcm.edu	37	14	66028324	66028324	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr14:66028324C>A	ENST00000360689.5	+	3	1770	c.43C>A	c.(43-45)Ctt>Att	p.L15I	FUT8_ENST00000394585.1_Missense_Mutation_p.L15I|FUT8_ENST00000394586.2_Missense_Mutation_p.L15I|FUT8_ENST00000358307.2_Intron|FUT8_ENST00000557164.1_Intron	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	15					cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)	p.L15I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TATGCTCATTCTTTTTGCCTG	0.463																																					p.L15I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C43A	14						.						179.0	173.0	175.0					14																	66028324		2203	4300	6503	65098077	SO:0001583	missense	2530	exon3			AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.43C>A	14.37:g.66028324C>A	ENSP00000353910:p.Leu15Ile	Somatic		Capture	SOLID	Phase_I	65098077	NM_178154	B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	ENST00000360689.5	37	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290912	0.59976	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000556518;ENST00000555559;ENST00000394585;ENST00000553924;ENST00000557338;ENST00000554610;ENST00000554667	T;T;T	0.26067	1.76;1.76;1.76	5.65	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.34774	0.0909	L	0.27053	0.805	0.80722	D	1	D	0.56035	0.974	D	0.67725	0.953	T	0.07046	-1.0793	10	0.42905	T	0.14	-9.9307	12.1237	0.53905	0.0:0.9172:0.0:0.0828	.	15	Q9BYC5	FUT8_HUMAN	I	15	ENSP00000353910:L15I;ENSP00000378087:L15I;ENSP00000378086:L15I	ENSP00000345865:L15I	L	+	1	0	FUT8	65098077	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.779000	0.68948	1.391000	0.46566	0.655000	0.94253	CTT		0.463	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480	
ZFYVE26	23503	hgsc.bcm.edu	37	14	68220437	68220437	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr14:68220437A>G	ENST00000347230.4	-	39	7313	c.7175T>C	c.(7174-7176)tTc>tCc	p.F2392S	RN7SL213P_ENST00000463482.2_RNA|ZFYVE26_ENST00000557306.1_Missense_Mutation_p.F238S	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2392					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.F2392S(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CAGAACACGGAAAGCAATTCC	0.398																																					p.F2392S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T7175C	14						.						79.0	68.0	71.0					14																	68220437		2203	4300	6503	67290190	SO:0001583	missense	23503	exon39			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.7175T>C	14.37:g.68220437A>G	ENSP00000251119:p.Phe2392Ser	Somatic		Capture	SOLID	Phase_I	67290190	NM_015346	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	A	19.76	3.887835	0.72410	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000557306	T;T	0.57595	1.06;0.39	5.41	5.41	0.78517	.	0.059063	0.64402	D	0.000002	T	0.63965	0.2556	L	0.42245	1.32	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.63877	0.919;0.915	T	0.67074	-0.5762	10	0.87932	D	0	-24.024	15.6156	0.76764	1.0:0.0:0.0:0.0	.	238;2392	Q96H43;Q68DK2	.;ZFY26_HUMAN	S	2392;2371;238	ENSP00000251119:F2392S;ENSP00000452142:F238S	ENSP00000251119:F2392S	F	-	2	0	ZFYVE26	67290190	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.367000	0.66127	2.279000	0.76181	0.459000	0.35465	TTC		0.398	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346	
SIPA1L1	26037	hgsc.bcm.edu	37	14	72171471	72171471	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr14:72171471C>A	ENST00000555818.1	+	13	4028	c.3680C>A	c.(3679-3681)tCt>tAt	p.S1227Y	SIPA1L1_ENST00000554874.1_Intron|SIPA1L1_ENST00000537413.1_Intron|SIPA1L1_ENST00000381232.3_Intron|SIPA1L1_ENST00000358550.2_Intron	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1227					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.S1227Y(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GATTTCAATTCTTTTGTCCTC	0.393																																					p.S1227Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3680A	14						.						111.0	106.0	108.0					14																	72171471		2203	4300	6503	71241224	SO:0001583	missense	26037	exon13			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3680C>A	14.37:g.72171471C>A	ENSP00000450832:p.Ser1227Tyr	Somatic		Capture	SOLID	Phase_I	71241224	NM_015556	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292623	0.40594	.	.	ENSG00000197555	ENST00000555818	T	0.54071	0.59	5.73	5.73	0.89815	.	0.230842	0.30134	N	0.010329	T	0.58452	0.2123	N	0.22421	0.69	0.80722	D	1	D;D	0.61697	0.99;0.99	D;D	0.69142	0.962;0.962	T	0.56438	-0.7979	10	0.38643	T	0.18	-13.2603	15.402	0.74849	0.0:1.0:0.0:0.0	.	1227;1227	A6H8W6;O43166	.;SI1L1_HUMAN	Y	1227	ENSP00000450832:S1227Y	ENSP00000351352:S1227Y	S	+	2	0	SIPA1L1	71241224	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.676000	0.37565	2.706000	0.92434	0.563000	0.77884	TCT		0.393	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556	
ENTPD5	957	hgsc.bcm.edu	37	14	74444005	74444005	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr14:74444005C>T	ENST00000334696.6	-	7	833	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	ENTPD5_ENST00000557325.1_Missense_Mutation_p.E172K	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	172					'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)	p.E172K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		CTCCCACCTTCGTCGGATCCA	0.453																																					p.E172K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G514A	14						.						113.0	98.0	103.0					14																	74444005		2203	4300	6503	73513758	SO:0001583	missense	957	exon7			AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"""proto-oncogene CPH"""	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.514G>A	14.37:g.74444005C>T	ENSP00000335246:p.Glu172Lys	Somatic		Capture	SOLID	Phase_I	73513758	NM_001249	A1L4C5|Q96RX0	Missense_Mutation	SNP	ENST00000334696.6	37	CCDS9825.1	.	.	.	.	.	.	.	.	.	.	C	36	5.752131	0.96890	.	.	ENSG00000187097	ENST00000557325;ENST00000334696;ENST00000553284	T;T;T	0.37584	1.19;1.19;1.19	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.75895	0.3912	H	0.97940	4.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85027	0.0915	10	0.87932	D	0	.	18.926	0.92544	0.0:1.0:0.0:0.0	.	172;172	O75356;G3V4I0	ENTP5_HUMAN;.	K	172	ENSP00000451810:E172K;ENSP00000335246:E172K;ENSP00000451591:E172K	ENSP00000335246:E172K	E	-	1	0	ENTPD5	73513758	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.646000	0.74348	2.793000	0.96121	0.655000	0.94253	GAA		0.453	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412637.1	NM_001249	
FLVCR2	55640	hgsc.bcm.edu	37	14	76105698	76105698	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr14:76105698G>A	ENST00000238667.4	+	6	1484	c.1128G>A	c.(1126-1128)gaG>gaA	p.E376E	FLVCR2_ENST00000539311.1_Silent_p.E171E|FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000555027.1_Silent_p.E91E	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	376					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)	p.E376E(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CTTGTAGAGAGACAACCCTGG	0.433																																					p.E376E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1128A	14						.						151.0	126.0	135.0					14																	76105698		2203	4300	6503	75175451	SO:0001819	synonymous_variant	55640	exon6			AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.1128G>A	14.37:g.76105698G>A		Somatic		Capture	SOLID	Phase_I	75175451	NM_017791	B7Z485|Q53ZT9|Q96JY3|Q9NX90	Silent	SNP	ENST00000238667.4	37	CCDS9844.1																																																																																				0.433	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791	
GSTZ1	2954	hgsc.bcm.edu	37	14	77791258	77791258	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr14:77791258C>T	ENST00000556627.1	+	2	192	c.61C>T	c.(61-63)Cga>Tga	p.R21*	GSTZ1_ENST00000349555.3_Nonsense_Mutation_p.R21*|GSTZ1_ENST00000557053.1_Intron|GSTZ1_ENST00000554279.1_Nonsense_Mutation_p.R21*|GSTZ1_ENST00000216465.5_Nonsense_Mutation_p.R21*|GSTZ1_ENST00000393734.1_5'UTR|GSTZ1_ENST00000557639.1_Intron|GSTZ1_ENST00000553586.1_Nonsense_Mutation_p.R22*|GSTZ1_ENST00000361389.4_5'UTR			O43708	MAAI_HUMAN	glutathione S-transferase zeta 1	21	GST N-terminal.				cellular nitrogen compound metabolic process (GO:0034641)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|L-phenylalanine catabolic process (GO:0006559)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|maleylacetoacetate isomerase activity (GO:0016034)|protein homodimerization activity (GO:0042803)	p.R21*(1)		lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	ATGGAGAGTTCGAATTGGTAA	0.577																																					p.R21X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C61T	14						.						136.0	102.0	113.0					14																	77791258		2203	4300	6503	76861011	SO:0001587	stop_gained	2954	exon2			U86529	CCDS9858.1, CCDS9859.1, CCDS9860.1	14q24.3	2012-06-22	2012-06-22		ENSG00000100577	ENSG00000100577	5.2.1.2, 2.5.1.18	"""Glutathione S-transferases / Soluble"""	4643	protein-coding gene	gene with protein product	"""maleylacetoacetate isomerase"""	603758	"""glutathione transferase zeta 1"""			9396740, 9417084	Standard	NM_001513		Approved	GSTZ1-1, MAAI, MAI	uc001xtj.3	O43708	OTTHUMG00000171551	ENST00000556627.1:c.61C>T	14.37:g.77791258C>T	ENSP00000450487:p.Arg21*	Somatic		Capture	SOLID	Phase_I	76861011	NM_145870	A6NED0|A6NNB8|A8MWD7|B2RCK3|O15308|O75430|Q6IB17|Q7Z610|Q9BV63	Nonsense_Mutation	SNP	ENST00000556627.1	37		.	.	.	.	.	.	.	.	.	.	C	37	6.554139	0.97658	.	.	ENSG00000100577	ENST00000216465;ENST00000554279;ENST00000349555;ENST00000556627;ENST00000553586	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0547	16.5049	0.84268	0.0:1.0:0.0:0.0	.	.	.	.	X	21;21;21;21;22	.	ENSP00000216465:R21X	R	+	1	2	GSTZ1	76861011	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.422000	0.44696	2.631000	0.89168	0.655000	0.94253	CGA		0.577	GSTZ1-012	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000414090.1	NM_145870	
SAMD15	161394	hgsc.bcm.edu	37	14	77845069	77845069	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr14:77845069C>T	ENST00000216471.4	+	1	1594	c.1308C>T	c.(1306-1308)aaC>aaT	p.N436N	SAMD15_ENST00000533095.2_Intron|TMED8_ENST00000216468.7_5'Flank	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	436								p.N436N(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGTAGGAAACGATGAGCTAG	0.393																																					p.N436N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1308T	14						.						69.0	66.0	67.0					14																	77845069		2203	4300	6503	76914822	SO:0001819	synonymous_variant	161394	exon1			AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.1308C>T	14.37:g.77845069C>T		Somatic		Capture	SOLID	Phase_I	76914822	NM_001010860	Q2M3P3	Silent	SNP	ENST00000216471.4	37	CCDS32126.1																																																																																				0.393	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860	
TSHR	7253	hgsc.bcm.edu	37	14	81574736	81574736	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr14:81574736A>C	ENST00000541158.2	+	9	954	c.632A>C	c.(631-633)aAa>aCa	p.K211T	TSHR_ENST00000554263.1_Missense_Mutation_p.K211T|TSHR_ENST00000554435.1_Missense_Mutation_p.K211T|TSHR_ENST00000298171.2_Missense_Mutation_p.K211T|TSHR_ENST00000342443.6_Missense_Mutation_p.K211T|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	211					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.K211T(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)	AACAAGAATAAATACCTGACA	0.323			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																														p.K211T		yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A632C	14						.						98.0	101.0	100.0					14																	81574736		2203	4300	6503	80644489	SO:0001583	missense	7253	exon8			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.632A>C	14.37:g.81574736A>C	ENSP00000441235:p.Lys211Thr	Somatic		Capture	SOLID	Phase_I	80644489	NM_001018036	A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.412547	0.42817	.	.	ENSG00000165409	ENST00000541158;ENST00000342443;ENST00000298171;ENST00000554263;ENST00000554435	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	5.39	4.24	0.50183	.	0.226763	0.52532	D	0.000076	D	0.83954	0.5366	M	0.72479	2.2	0.39462	D	0.967576	B;B;B;B	0.30281	0.275;0.113;0.275;0.068	B;B;B;B	0.42771	0.397;0.253;0.248;0.171	T	0.80281	-0.1448	10	0.36615	T	0.2	.	7.8628	0.29520	0.906:0.0:0.094:0.0	.	211;211;211;211	G3V2A9;F5GYU5;P16473-2;P16473	.;.;.;TSHR_HUMAN	T	211	ENSP00000441235:K211T;ENSP00000340113:K211T;ENSP00000298171:K211T;ENSP00000451202:K211T;ENSP00000450549:K211T	ENSP00000298171:K211T	K	+	2	0	TSHR	80644489	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.301000	0.43628	0.892000	0.36259	0.482000	0.46254	AAA		0.323	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369	
STON2	85439	hgsc.bcm.edu	37	14	81743998	81743998	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr14:81743998G>A	ENST00000267540.2	-	4	1857	c.1657C>T	c.(1657-1659)Cca>Tca	p.P553S	STON2_ENST00000556280.1_5'Flank|STON2_ENST00000555447.1_Missense_Mutation_p.P553S	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	553	SHD. {ECO:0000255|PROSITE- ProRule:PRU00403}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)		p.P553S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GACAACACTGGCAGATCCATG	0.488																																					p.P553S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1657T	14						.						92.0	86.0	88.0					14																	81743998		2203	4300	6503	80813751	SO:0001583	missense	85439	exon4			AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.1657C>T	14.37:g.81743998G>A	ENSP00000267540:p.Pro553Ser	Somatic		Capture	SOLID	Phase_I	80813751	NM_033104	G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318700	0.41096	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.13538	2.58;2.58	5.91	5.91	0.95273	Stonin homology (1);	0.063541	0.64402	D	0.000004	T	0.23014	0.0556	L	0.37561	1.115	0.48830	D	0.999718	D;D	0.57571	0.966;0.98	P;P	0.52109	0.493;0.69	T	0.00070	-1.2134	10	0.51188	T	0.08	-16.0479	20.2985	0.98592	0.0:0.0:1.0:0.0	.	553;553	Q8WXE9;G3V2T7	STON2_HUMAN;.	S	553;565;553	ENSP00000450857:P553S;ENSP00000267540:P553S	ENSP00000267540:P553S	P	-	1	0	STON2	80813751	1.000000	0.71417	0.991000	0.47740	0.572000	0.35998	3.080000	0.50112	2.793000	0.96121	0.655000	0.94253	CCA		0.488	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104	
NRDE2	55051	hgsc.bcm.edu	37	14	90755319	90755319	+	Silent	SNP	T	T	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr14:90755319T>C	ENST00000354366.3	-	11	2632	c.2400A>G	c.(2398-2400)agA>agG	p.R800R	NRDE2_ENST00000357904.3_Silent_p.R569R	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	800								p.R800R(1)									CAAAAACTTTTCTGGCATCCT	0.502																																					p.R569R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1707G	14						.						125.0	123.0	124.0					14																	90755319		2203	4300	6503	89825072	SO:0001819	synonymous_variant	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.2400A>G	14.37:g.90755319T>C		Somatic		Capture	SOLID	Phase_I	89825072	NM_199043	B4DH71|Q4G0A7|Q9NWH6	Silent	SNP	ENST00000354366.3	37	CCDS9890.1																																																																																				0.502	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970	
PPP4R4	57718	hgsc.bcm.edu	37	14	94716540	94716540	+	Missense_Mutation	SNP	G	G	A	rs149950607		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr14:94716540G>A	ENST00000304338.3	+	15	1797	c.1643G>A	c.(1642-1644)cGa>cAa	p.R548Q		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	548					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)	p.R548Q(2)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						GCGGCTTCACGAACTCTATGC	0.353																																					p.R548Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G1643A	14						.						136.0	122.0	127.0					14																	94716540		2203	4300	6503	93786293	SO:0001583	missense	57718	exon15			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.1643G>A	14.37:g.94716540G>A	ENSP00000305924:p.Arg548Gln	Somatic		Capture	SOLID	Phase_I	93786293	NM_058237	Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768094	0.90020	.	.	ENSG00000119698	ENST00000304338	T	0.32988	1.43	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.069408	0.64402	D	0.000017	T	0.45357	0.1338	M	0.70275	2.135	0.80722	D	1	D	0.59357	0.985	P	0.49252	0.604	T	0.45760	-0.9239	10	0.62326	D	0.03	-10.3534	18.0208	0.89253	0.0:0.0:1.0:0.0	.	548	Q6NUP7	PP4R4_HUMAN	Q	548	ENSP00000305924:R548Q	ENSP00000305924:R548Q	R	+	2	0	PPP4R4	93786293	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	6.844000	0.75390	2.692000	0.91855	0.455000	0.32223	CGA		0.353	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237	
SERPINA4	5267	hgsc.bcm.edu	37	14	95033338	95033338	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr14:95033338G>A	ENST00000557004.1	+	3	1102	c.681G>A	c.(679-681)agG>agA	p.R227R	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Silent_p.R227R|SERPINA4_ENST00000298841.5_Silent_p.R227R			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	227					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R227R(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TTTCCTCAAGGACCACTCCCA	0.502																																					p.R227R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G681A	14						.						115.0	108.0	110.0					14																	95033338		2203	4300	6503	94103091	SO:0001819	synonymous_variant	5267	exon3			L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.681G>A	14.37:g.95033338G>A		Somatic		Capture	SOLID	Phase_I	94103091	NM_006215	Q53XB5|Q86TR9|Q96BZ5	Silent	SNP	ENST00000557004.1	37	CCDS9927.1																																																																																				0.502	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215	
EML1	2009	hgsc.bcm.edu	37	14	100317232	100317232	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr14:100317232G>A	ENST00000262233.6	+	2	249	c.110G>A	c.(109-111)cGc>cAc	p.R37H	EML1_ENST00000334192.4_Missense_Mutation_p.R37H|EML1_ENST00000327921.9_Missense_Mutation_p.R6H|EML1_ENST00000556758.1_3'UTR	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	37					brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.R37H(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GTGACAGACCGCATTGCTTCA	0.483																																					p.R37H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G110A	14						.						132.0	119.0	123.0					14																	100317232		2203	4300	6503	99386985	SO:0001583	missense	2009	exon2			AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.110G>A	14.37:g.100317232G>A	ENSP00000262233:p.Arg37His	Somatic		Capture	SOLID	Phase_I	99386985	NM_004434	Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.949871	0.92660	.	.	ENSG00000066629	ENST00000554479;ENST00000555145;ENST00000327921;ENST00000556199;ENST00000556835;ENST00000262233;ENST00000334192;ENST00000542138;ENST00000556714;ENST00000553720;ENST00000556947	T;T;T;T;T;T;T	0.81330	2.14;0.66;-1.48;0.82;0.51;0.79;-1.48	5.45	4.57	0.56435	.	0.049933	0.85682	N	0.000000	D	0.88883	0.6558	M	0.76170	2.325	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	0.87578	0.997;0.994;0.993;0.998;0.996	D	0.90239	0.4285	10	0.87932	D	0	-19.9458	14.4896	0.67642	0.0706:0.0:0.9294:0.0	.	6;6;37;37;37	F8W717;B7Z650;O00423;O00423-3;B3KXA3	.;.;EMAL1_HUMAN;.;.	H	24;24;6;6;6;37;37;37;6;18;43	ENSP00000451346:R24H;ENSP00000327384:R6H;ENSP00000451991:R6H;ENSP00000262233:R37H;ENSP00000334314:R37H;ENSP00000452089:R6H;ENSP00000452292:R18H	ENSP00000262233:R37H	R	+	2	0	EML1	99386985	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.133000	0.94460	1.443000	0.47586	0.655000	0.94253	CGC		0.483	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707	
VPS13B	157680	hgsc.bcm.edu	37	8	100779104	100779104	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:100779104G>A	ENST00000358544.2	+	40	7339	c.7228G>A	c.(7228-7230)Gat>Aat	p.D2410N	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.D2385N	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2410					protein transport (GO:0015031)			p.D2410N(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)			GCAGTTGCCGGATATCAATCT	0.383																																					p.D2410N	Colon(161;2205 2542 7338 31318)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7228A	8						.						81.0	79.0	80.0					8																	100779104		2203	4300	6503	100848280	SO:0001583	missense	157680	exon40			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.7228G>A	8.37:g.100779104G>A	ENSP00000351346:p.Asp2410Asn	Somatic		Capture	SOLID	Phase_I	100848280	NM_017890	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465751	0.84425	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.69561	-0.41;-0.41	5.95	5.07	0.68467	.	0.125797	0.51477	D	0.000085	T	0.40448	0.1117	N	0.04959	-0.14	0.80722	D	1	B;B	0.12013	0.005;0.003	B;B	0.09377	0.004;0.002	T	0.34453	-0.9828	10	0.38643	T	0.18	.	5.7273	0.18020	0.2525:0.0:0.7475:0.0	.	2385;2410	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	N	2385;2410	ENSP00000349685:D2385N;ENSP00000351346:D2410N	ENSP00000349685:D2385N	D	+	1	0	VPS13B	100848280	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.683000	0.68189	2.827000	0.97445	0.650000	0.86243	GAT		0.383	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
RNF19A	25897	hgsc.bcm.edu	37	8	101271192	101271192	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:101271192C>T	ENST00000519449.1	-	11	2425	c.2109G>A	c.(2107-2109)acG>acA	p.T703T	RNF19A_ENST00000523255.1_5'Flank|RNF19A_ENST00000341084.2_Silent_p.T703T	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	703	Interaction with CASR.				microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.T703T(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CACTTGAGTTCGTGCTTTGTT	0.398											OREG0018897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T703T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2109A	8						.						304.0	258.0	273.0					8																	101271192		2203	4300	6503	101340368	SO:0001819	synonymous_variant	25897	exon10			AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.2109G>A	8.37:g.101271192C>T		Somatic	1357	Capture	SOLID	Phase_I	101340368	NM_183419	A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Silent	SNP	ENST00000519449.1	37	CCDS6286.1																																																																																				0.398	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435	
ANGPT1	284	hgsc.bcm.edu	37	8	108264120	108264120	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:108264120C>T	ENST00000520734.1	-	8	1145	c.860G>A	c.(859-861)cGt>cAt	p.R287H	ANGPT1_ENST00000520052.1_Missense_Mutation_p.R286H|ANGPT1_ENST00000518386.1_5'UTR|AP000428.1_ENST00000390706.1_RNA			Q15389	ANGP1_HUMAN	angiopoietin 1	487	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|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 protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)	p.R487H(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			AGTTGTGGAACGTAAGGAGTA	0.428																																					p.R487H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1460A	8						.						185.0	171.0	176.0					8																	108264120		2203	4300	6503	108333296	SO:0001583	missense	284	exon9			D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.860G>A	8.37:g.108264120C>T	ENSP00000430750:p.Arg287His	Somatic		Capture	SOLID	Phase_I	108333296	NM_001146	Q5HYA0	Missense_Mutation	SNP	ENST00000520734.1	37		.	.	.	.	.	.	.	.	.	.	C	14.55	2.568795	0.45798	.	.	ENSG00000154188	ENST00000517746;ENST00000297450;ENST00000520734;ENST00000520052	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.9	4.97	0.65823	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.046380	0.85682	N	0.000000	T	0.32734	0.0839	L	0.54965	1.715	0.80722	D	1	B;B	0.28419	0.211;0.211	B;B	0.30572	0.117;0.117	T	0.11421	-1.0588	10	0.59425	D	0.04	.	13.8354	0.63406	0.0:0.921:0.0:0.079	.	487;487	Q5HYA0;Q15389	.;ANGP1_HUMAN	H	487;486;287;286	ENSP00000428340:R487H;ENSP00000297450:R486H;ENSP00000430750:R287H;ENSP00000429349:R286H	ENSP00000297450:R486H	R	-	2	0	ANGPT1	108333296	0.999000	0.42202	1.000000	0.80357	0.395000	0.30598	2.645000	0.46621	1.377000	0.46286	0.650000	0.86243	CGT		0.428	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290	
CSMD3	114788	hgsc.bcm.edu	37	8	113243804	113243804	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:113243804C>A	ENST00000297405.5	-	69	11042	c.10798G>T	c.(10798-10800)Gat>Tat	p.D3600Y	CSMD3_ENST00000352409.3_Missense_Mutation_p.D3530Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.D3560Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.D3431Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3600						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D3600Y(2)|p.D3560Y(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						TGTCCATAATCTTTGCCTTGA	0.338										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.D3560Y												.	.	3	Substitution - Missense(3)	endometrium(2)|large_intestine(1)	c.G10678T	8						.						128.0	138.0	135.0					8																	113243804		2203	4300	6503	113312980	SO:0001583	missense	114788	exon70			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.10798G>T	8.37:g.113243804C>A	ENSP00000297405:p.Asp3600Tyr	Somatic		Capture	SOLID	Phase_I	113312980	NM_198124	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501188	0.85176	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.30981	1.8;1.8;1.86;1.51;1.84	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.56366	0.1980	M	0.65498	2.005	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.85130	0.997;0.994;0.946	T	0.56294	-0.8003	10	0.62326	D	0.03	.	19.1714	0.93580	0.0:1.0:0.0:0.0	.	3431;3600;3560	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	3560;3600;2870;3431;3530	ENSP00000345799:D3560Y;ENSP00000297405:D3600Y;ENSP00000341558:D2870Y;ENSP00000412263:D3431Y;ENSP00000343124:D3530Y	ENSP00000297405:D3600Y	D	-	1	0	CSMD3	113312980	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.510000	0.81708	2.843000	0.97960	0.585000	0.79938	GAT		0.338	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CSMD3	114788	hgsc.bcm.edu	37	8	114186072	114186072	+	Silent	SNP	G	G	A	rs141398828		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:114186072G>A	ENST00000297405.5	-	4	832	c.588C>T	c.(586-588)gtC>gtT	p.V196V	CSMD3_ENST00000352409.3_Silent_p.V196V|CSMD3_ENST00000343508.3_Silent_p.V156V|CSMD3_ENST00000519485.1_5'Flank|CSMD3_ENST00000455883.2_Silent_p.V196V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	196	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V196V(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						TCTTGTCCCCGACGTCGAATC	0.458										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G|||	1	0.000199681	0.0	0.0	5008	,	,		15280	0.001		0.0	False		,,,				2504	0.0				p.V156V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C468T	8						.						123.0	111.0	116.0					8																	114186072		2203	4300	6503	114255248	SO:0001819	synonymous_variant	114788	exon5			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.588C>T	8.37:g.114186072G>A		Somatic		Capture	SOLID	Phase_I	114255248	NM_198124	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.458	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
RAD21	5885	hgsc.bcm.edu	37	8	117859879	117859879	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:117859879G>A	ENST00000297338.2	-	14	2043	c.1756C>T	c.(1756-1758)Cga>Tga	p.R586*	RAD21_ENST00000517749.1_Nonsense_Mutation_p.R24*|UTP23_ENST00000517820.1_Intron|RAD21_ENST00000518055.1_Nonsense_Mutation_p.R131*|RAD21_ENST00000523986.1_Nonsense_Mutation_p.R90*|UTP23_ENST00000520733.1_Intron	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	586					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.R586*(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)					TTCGTATTTCGACATAACTCA	0.383																																					p.R586X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1756T	8						.						85.0	78.0	80.0					8																	117859879		2203	4300	6503	117929060	SO:0001587	stop_gained	5885	exon14			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.1756C>T	8.37:g.117859879G>A	ENSP00000297338:p.Arg586*	Somatic		Capture	SOLID	Phase_I	117929060	NM_006265	A8K0E0|Q15001|Q99568	Nonsense_Mutation	SNP	ENST00000297338.2	37	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	G	39	7.715978	0.98450	.	.	ENSG00000164754	ENST00000297338;ENST00000523986;ENST00000517749;ENST00000518055	.	.	.	6.06	4.11	0.48088	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-11.5172	13.6521	0.62316	0.0:0.0:0.687:0.313	.	.	.	.	X	586;90;24;131	.	ENSP00000297338:R586X	R	-	1	2	RAD21	117929060	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.486000	0.45259	2.880000	0.98712	0.650000	0.86243	CGA		0.383	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265	
EXT1	2131	hgsc.bcm.edu	37	8	118847703	118847703	+	Missense_Mutation	SNP	C	C	T	rs146983754		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:118847703C>T	ENST00000378204.2	-	3	1950	c.1144G>A	c.(1144-1146)Gat>Aat	p.D382N		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	382					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)	p.D382N(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			AATCTCTCATCGCCTATGACG	0.478			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																												p.D382N		yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1144A	8						.	C	ASN/ASP	0,4406		0,0,2203	117.0	103.0	108.0		1144	5.8	1.0	8	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	missense	EXT1	NM_000127.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	382/747	118847703	1,13005	2203	4300	6503	118916884	SO:0001583	missense	2131	exon3	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1144G>A	8.37:g.118847703C>T	ENSP00000367446:p.Asp382Asn	Somatic		Capture	SOLID	Phase_I	118916884	NM_000127	B2R7V2|Q9BVI9	Missense_Mutation	SNP	ENST00000378204.2	37	CCDS6324.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	35|35	5.515576|5.515576	0.96402|0.96402	0.0|0.0	1.16E-4|1.16E-4	ENSG00000182197|ENSG00000182197	ENST00000378204|ENST00000436216	D|.	0.97831|.	-4.56|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83018|0.83018	0.5163|0.5163	M|M	0.84082|0.84082	2.675|2.675	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.76575|.	0.988|.	T|T	0.82961|0.82961	-0.0197|-0.0197	10|5	0.32370|.	T|.	0.25|.	-21.0133|-21.0133	20.3627|20.3627	0.98863|0.98863	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	382|.	Q16394|.	EXT1_HUMAN|.	N|Q	382|171	ENSP00000367446:D382N|.	ENSP00000367446:D382N|.	D|R	-|-	1|2	0|0	EXT1|EXT1	118916884|118916884	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.772000|7.772000	0.85439|0.85439	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.478	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127	
EXT1	2131	hgsc.bcm.edu	37	8	119122368	119122368	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:119122368C>A	ENST00000378204.2	-	1	1724	c.918G>T	c.(916-918)aaG>aaT	p.K306N		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	306					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)	p.K306N(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			AATCCTTGTGCTTTTGCCAGT	0.542			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																												p.K306N		yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G918T	8						.						165.0	153.0	157.0					8																	119122368		2203	4300	6503	119191549	SO:0001583	missense	2131	exon1	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.918G>T	8.37:g.119122368C>A	ENSP00000367446:p.Lys306Asn	Somatic		Capture	SOLID	Phase_I	119191549	NM_000127	B2R7V2|Q9BVI9	Missense_Mutation	SNP	ENST00000378204.2	37	CCDS6324.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.27|14.27	2.484814|2.484814	0.44147|0.44147	.|.	.|.	ENSG00000182197|ENSG00000182197	ENST00000436216|ENST00000378204	.|D	.|0.97598	.|-4.45	5.43|5.43	4.55|4.55	0.56014|0.56014	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96156|0.96156	0.8747|0.8747	L|L	0.39085|0.39085	1.19|1.19	0.58432|0.58432	D|D	0.999999|0.999999	.|P	.|0.49447	.|0.924	.|P	.|0.55161	.|0.77	D|D	0.94638|0.94638	0.7828|0.7828	5|10	.|0.27082	.|T	.|0.32	-6.3723|-6.3723	13.9005|13.9005	0.63799|0.63799	0.0:0.9267:0.0:0.0733|0.0:0.9267:0.0:0.0733	.|.	.|306	.|Q16394	.|EXT1_HUMAN	S|N	96|306	.|ENSP00000367446:K306N	.|ENSP00000367446:K306N	A|K	-|-	1|3	0|2	EXT1|EXT1	119191549|119191549	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.107000|3.107000	0.50329|0.50329	1.284000|1.284000	0.44531|0.44531	0.462000|0.462000	0.41574|0.41574	GCA|AAG		0.542	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127	
ENPP2	5168	hgsc.bcm.edu	37	8	120606076	120606076	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:120606076C>T	ENST00000075322.6	-	12	1055	c.997G>A	c.(997-999)Gac>Aac	p.D333N	ENPP2_ENST00000522826.1_Missense_Mutation_p.D333N|ENPP2_ENST00000259486.6_Missense_Mutation_p.D385N|ENPP2_ENST00000522167.1_5'Flank|ENPP2_ENST00000427067.2_Missense_Mutation_p.D329N	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	333					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.D385N(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACAATTTTGTCGATTTCCCTC	0.418																																					p.D333N	Melanoma(20;305 879 2501 4818 31020)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G997A	8						.						268.0	250.0	256.0					8																	120606076		2203	4300	6503	120675257	SO:0001583	missense	5168	exon12			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.997G>A	8.37:g.120606076C>T	ENSP00000075322:p.Asp333Asn	Somatic		Capture	SOLID	Phase_I	120675257	NM_001040092	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	35	5.477913	0.96291	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322	D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2	5.5	5.5	0.81552	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.96685	0.8918	M	0.73430	2.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.96789	0.9581	10	0.87932	D	0	.	19.7739	0.96383	0.0:1.0:0.0:0.0	.	333;333;385	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	N	385;329;333;333	ENSP00000259486:D385N;ENSP00000403315:D329N;ENSP00000428291:D333N;ENSP00000075322:D333N	ENSP00000075322:D333N	D	-	1	0	ENPP2	120675257	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.750000	0.85110	2.744000	0.94065	0.655000	0.94253	GAC		0.418	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1		
TAF2	6873	hgsc.bcm.edu	37	8	120801046	120801046	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:120801046C>T	ENST00000378164.2	-	13	1965	c.1667G>A	c.(1666-1668)gGa>gAa	p.G556E		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	556					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G556E(2)		NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTTCTGAGTTCCAGGAGATGT	0.373																																					p.G556E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1667A	8						.						143.0	142.0	142.0					8																	120801046		2203	4299	6502	120870227	SO:0001583	missense	6873	exon13			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.1667G>A	8.37:g.120801046C>T	ENSP00000367406:p.Gly556Glu	Somatic		Capture	SOLID	Phase_I	120870227	NM_003184	B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	CCDS34937.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.834614|4.834614	0.91036|0.91036	.|.	.|.	ENSG00000064313|ENSG00000064313	ENST00000523904|ENST00000378164	.|T	.|0.49720	.|0.77	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69672|0.69672	0.3137|0.3137	M|M	0.72353|0.72353	2.195|2.195	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.75484	.|0.986	T|T	0.69654|0.69654	-0.5087|-0.5087	5|10	.|0.52906	.|T	.|0.07	-32.7773|-32.7773	19.6655|19.6655	0.95891|0.95891	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|556	.|Q6P1X5	.|TAF2_HUMAN	K|E	249|556	.|ENSP00000367406:G556E	.|ENSP00000367406:G556E	E|G	-|-	1|2	0|0	TAF2|TAF2	120870227|120870227	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	6.092000|6.092000	0.71414|0.71414	2.652000|2.652000	0.90054|0.90054	0.491000|0.491000	0.48974|0.48974	GAA|GGA		0.373	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184	
KCNQ3	3786	hgsc.bcm.edu	37	8	133192492	133192492	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:133192492C>T	ENST00000388996.4	-	4	1109	c.689G>A	c.(688-690)cGc>cAc	p.R230H	KCNQ3_ENST00000521134.1_Missense_Mutation_p.R110H|KCNQ3_ENST00000519445.1_Missense_Mutation_p.R230H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	230					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.R230H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CTGCAGGAAGCGCAGGCTTCG	0.587																																					p.R230H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G689A	8						.						105.0	94.0	98.0					8																	133192492		2203	4300	6503	133261674	SO:0001583	missense	3786	exon4			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.689G>A	8.37:g.133192492C>T	ENSP00000373648:p.Arg230His	Somatic		Capture	SOLID	Phase_I	133261674	NM_004519	A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792695	0.90453	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.98617	-5.03;-5.03;-5.03	5.52	5.52	0.82312	Ion transport (1);	0.049783	0.85682	D	0.000000	D	0.99272	0.9746	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99368	1.0919	10	0.87932	D	0	-18.9515	18.4101	0.90549	0.0:1.0:0.0:0.0	.	230;230	E7ET42;O43525	.;KCNQ3_HUMAN	H	230;110;230;219;109	ENSP00000373648:R230H;ENSP00000429799:R110H;ENSP00000428790:R230H	ENSP00000373648:R230H	R	-	2	0	KCNQ3	133261674	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.729000	0.84864	2.610000	0.88304	0.561000	0.74099	CGC		0.587	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519	
TMEM71	137835	hgsc.bcm.edu	37	8	133734298	133734298	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:133734298G>T	ENST00000356838.3	-	7	825	c.683C>A	c.(682-684)tCt>tAt	p.S228Y	TMEM71_ENST00000523829.1_Missense_Mutation_p.S247Y|TMEM71_ENST00000377901.4_Missense_Mutation_p.S184Y	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	247						integral component of membrane (GO:0016021)		p.S228Y(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TGCACATGCAGAAATGATTAA	0.348																																					p.S228Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C683A	8						.						117.0	113.0	114.0					8																	133734298		2203	4300	6503	133803480	SO:0001583	missense	137835	exon7			AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.683C>A	8.37:g.133734298G>T	ENSP00000349296:p.Ser228Tyr	Somatic		Capture	SOLID	Phase_I	133803480	NM_144649	Q3KRC2|Q8WVZ4|Q96LX9	Missense_Mutation	SNP	ENST00000356838.3	37	CCDS6366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.29|14.29	2.491047|2.491047	0.44249|0.44249	.|.	.|.	ENSG00000165071|ENSG00000165071	ENST00000522780|ENST00000523829;ENST00000356838;ENST00000377901	.|.	.|.	.|.	5.56|5.56	0.239|0.239	0.15484|0.15484	.|.	.|0.455513	.|0.23894	.|N	.|0.043516	T|T	0.33147|0.33147	0.0853|0.0853	M|M	0.67953|0.67953	2.075|2.075	0.27119|0.27119	N|N	0.962194|0.962194	.|B;B;B	.|0.25390	.|0.125;0.047;0.082	.|B;B;B	.|0.25140	.|0.037;0.021;0.058	T|T	0.24083|0.24083	-1.0170|-1.0170	5|9	.|0.44086	.|T	.|0.13	-2.8936|-2.8936	2.3479|2.3479	0.04276|0.04276	0.1693:0.2857:0.4098:0.1351|0.1693:0.2857:0.4098:0.1351	.|.	.|247;184;228	.|Q6P5X7;Q6P5X7-3;Q6P5X7-2	.|TMM71_HUMAN;.;.	M|Y	85|247;228;184	.|.	.|ENSP00000349296:S228Y	L|S	-|-	1|2	2|0	TMEM71|TMEM71	133803480|133803480	0.934000|0.934000	0.31675|0.31675	0.568000|0.568000	0.28447|0.28447	0.926000|0.926000	0.56050|0.56050	0.602000|0.602000	0.24134|0.24134	-0.170000|-0.170000	0.10816|0.10816	-1.131000|-1.131000	0.01979|0.01979	CTG|TCT		0.348	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379591.1	NM_144649	
TG	7038	hgsc.bcm.edu	37	8	133911137	133911137	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:133911137C>T	ENST00000220616.4	+	14	3352	c.3312C>T	c.(3310-3312)ttC>ttT	p.F1104F	TG_ENST00000377869.1_Silent_p.F1104F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1104	Thyroglobulin type-1 9. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.F1104F(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AAGACCTGTTCGTCCCAGCCT	0.517																																					p.F1104F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3312T	8						.						62.0	52.0	55.0					8																	133911137		2203	4300	6503	133980319	SO:0001819	synonymous_variant	7038	exon14			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3312C>T	8.37:g.133911137C>T		Somatic		Capture	SOLID	Phase_I	133980319	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.065|8.065	0.768898|0.768898	0.15983|0.15983	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000543313|ENST00000518505	.|.	.|.	.|.	5.74|5.74	4.86|4.86	0.63082|0.63082	.|.	.|.	.|.	.|.	.|.	T|T	0.60170|0.60170	0.2248|0.2248	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.58387|0.58387	-0.7645|-0.7645	4|4	.|.	.|.	.|.	.|.	9.2938|9.2938	0.37802|0.37802	0.0:0.8342:0.0:0.1658|0.0:0.8342:0.0:0.1658	.|.	.|.	.|.	.|.	C|L	12|71	.|.	.|.	R|S	+|+	1|2	0|0	TG|TG	133980319|133980319	0.956000|0.956000	0.32656|0.32656	0.972000|0.972000	0.41901|0.41901	0.815000|0.815000	0.46073|0.46073	0.916000|0.916000	0.28651|0.28651	1.394000|1.394000	0.46624|0.46624	0.655000|0.655000	0.94253|0.94253	CGT|TCG		0.517	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
COL22A1	169044	hgsc.bcm.edu	37	8	139737643	139737643	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:139737643G>A	ENST00000303045.6	-	24	2626	c.2180C>T	c.(2179-2181)cCg>cTg	p.P727L	COL22A1_ENST00000435777.1_Missense_Mutation_p.P727L	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	727	Collagen-like 5.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.P727L(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGAACCTCCCGGTCCAGGGGG	0.587										HNSCC(7;0.00092)																											p.P727L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2180T	8						.						58.0	64.0	62.0					8																	139737643		2203	4300	6503	139806825	SO:0001583	missense	169044	exon24			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2180C>T	8.37:g.139737643G>A	ENSP00000303153:p.Pro727Leu	Somatic		Capture	SOLID	Phase_I	139806825	NM_152888	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	9.153	1.016670	0.19355	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.96885	-4.16;-4.16	4.94	4.07	0.47477	.	0.000000	0.49916	D	0.000133	D	0.90174	0.6929	N	0.21583	0.68	0.47584	D	0.999466	B;B	0.23990	0.078;0.095	B;B	0.20577	0.012;0.03	D	0.84904	0.0844	10	0.08837	T	0.75	.	10.1535	0.42809	0.0945:0.0:0.9055:0.0	.	727;727	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	L	727;727;440	ENSP00000303153:P727L;ENSP00000387655:P727L	ENSP00000303153:P727L	P	-	2	0	COL22A1	139806825	0.982000	0.34865	0.947000	0.38551	0.640000	0.38277	2.001000	0.40825	1.403000	0.46800	-0.119000	0.15052	CCG		0.587	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	
COL22A1	169044	hgsc.bcm.edu	37	8	139833570	139833570	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:139833570G>A	ENST00000303045.6	-	7	1500	c.1054C>T	c.(1054-1056)Cga>Tga	p.R352*	COL22A1_ENST00000435777.1_Nonsense_Mutation_p.R352*	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	352	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.R352*(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CGAGAACCTCGGAAGACCACC	0.577										HNSCC(7;0.00092)																											p.R352X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1054T	8						.						145.0	139.0	141.0					8																	139833570		2203	4300	6503	139902752	SO:0001587	stop_gained	169044	exon7			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1054C>T	8.37:g.139833570G>A	ENSP00000303153:p.Arg352*	Somatic		Capture	SOLID	Phase_I	139902752	NM_152888	B7ZMH0|C9K0G4|Q8IVT9	Nonsense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	43	10.262549	0.99370	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	.	.	.	5.21	5.21	0.72293	.	0.167757	0.28241	N	0.016078	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1827	0.89783	0.0:0.0:1.0:0.0	.	.	.	.	X	352	.	.	R	-	1	2	COL22A1	139902752	1.000000	0.71417	0.997000	0.53966	0.907000	0.53573	4.781000	0.62389	2.616000	0.88540	0.558000	0.71614	CGA		0.577	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	
TNKS	8658	hgsc.bcm.edu	37	8	9584165	9584165	+	Missense_Mutation	SNP	C	C	T	rs144610024	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:9584165C>T	ENST00000310430.6	+	13	1962	c.1936C>T	c.(1936-1938)Cgt>Tgt	p.R646C	TNKS_ENST00000518281.1_Missense_Mutation_p.R409C	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	646					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)	p.R646C(2)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TACACCTATACGTACTTCTGA	0.368																																					p.R646C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1936T	8						.	C	CYS/ARG	0,4406		0,0,2203	260.0	262.0	261.0		1936	5.5	0.9	8	dbSNP_134	261	3,8597	3.0+/-9.4	0,3,4297	yes	missense	TNKS	NM_003747.2	180	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	646/1328	9584165	3,13003	2203	4300	6503	9621575	SO:0001583	missense	8658	exon13			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.1936C>T	8.37:g.9584165C>T	ENSP00000311579:p.Arg646Cys	Somatic		Capture	SOLID	Phase_I	9621575	NM_003747	O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.756920	0.69648	0.0	3.49E-4	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.63744	-0.06;0.0	5.48	5.48	0.80851	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.62085	0.2399	L	0.29908	0.895	0.80722	D	1	D	0.56968	0.978	P	0.49361	0.608	T	0.65520	-0.6148	10	0.62326	D	0.03	.	19.7133	0.96105	0.0:1.0:0.0:0.0	.	646	O95271	TNKS1_HUMAN	C	646;409	ENSP00000311579:R646C;ENSP00000429890:R409C	ENSP00000311579:R646C	R	+	1	0	TNKS	9621575	0.966000	0.33281	0.949000	0.38748	0.995000	0.86356	2.246000	0.43142	2.725000	0.93324	0.655000	0.94253	CGT		0.368	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747	
PPP3CC	5533	hgsc.bcm.edu	37	8	22368601	22368601	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:22368601C>T	ENST00000240139.5	+	5	814	c.487C>T	c.(487-489)Cga>Tga	p.R163*	PPP3CC_ENST00000518852.1_Nonsense_Mutation_p.R163*|PPP3CC_ENST00000397775.3_Nonsense_Mutation_p.R163*|PPP3CC_ENST00000289963.8_Nonsense_Mutation_p.R163*	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	163					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.R163*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TTTGTTAGGTCGAATCAAATA	0.398																																					p.R163X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C487T	8						.						173.0	155.0	161.0					8																	22368601		2203	4300	6503	22424546	SO:0001587	stop_gained	5533	exon5				CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9316	protein-coding gene	gene with protein product	"""calcineurin A gamma"", ""protein phosphatase 2B, catalytic subunit, gamma isoform"""	114107	"""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"""			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.487C>T	8.37:g.22368601C>T	ENSP00000240139:p.Arg163*	Somatic		Capture	SOLID	Phase_I	22424546	NM_005605	B4DRT5|Q9BSS6|Q9H4M5	Nonsense_Mutation	SNP	ENST00000240139.5	37	CCDS34859.1	.	.	.	.	.	.	.	.	.	.	C	41	8.953789	0.99016	.	.	ENSG00000120910	ENST00000518852;ENST00000240139;ENST00000289963;ENST00000397775	.	.	.	5.91	5.91	0.95273	.	0.189068	0.45606	D	0.000348	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-1.2201	13.9766	0.64277	0.1517:0.8483:0.0:0.0	.	.	.	.	X	163	.	ENSP00000240139:R163X	R	+	1	2	PPP3CC	22424546	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.300000	0.59079	2.791000	0.96007	0.655000	0.94253	CGA		0.398	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375652.1	NM_005605	
ADAMDEC1	27299	hgsc.bcm.edu	37	8	24254936	24254936	+	Silent	SNP	A	A	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:24254936A>G	ENST00000256412.4	+	6	814	c.594A>G	c.(592-594)ccA>ccG	p.P198P	RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000538205.1_Silent_p.P119P|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Silent_p.P119P	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	198					immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P198P(1)		NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AACAAGGCCCAATTCGAATCT	0.438																																					p.P119P	Ovarian(147;687 1849 3699 25981 31337)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A357G	8						.						186.0	181.0	183.0					8																	24254936		2203	4300	6503	24310881	SO:0001819	synonymous_variant	27299	exon5			Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.594A>G	8.37:g.24254936A>G		Somatic		Capture	SOLID	Phase_I	24310881	NM_001145272	B7ZAK5	Silent	SNP	ENST00000256412.4	37	CCDS6044.1																																																																																				0.438	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479	
ADAM7	8756	hgsc.bcm.edu	37	8	24350720	24350720	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:24350720G>A	ENST00000175238.6	+	16	1903	c.1820G>A	c.(1819-1821)gGa>gAa	p.G607E	RP11-624C23.1_ENST00000519689.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.G607E|ADAM7_ENST00000520720.1_Missense_Mutation_p.G379E|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	607	Cys-rich.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G607E(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GTGGCGTCAGGAACAAAATGT	0.358																																					p.G607E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1820A	8						.						79.0	79.0	79.0					8																	24350720		2203	4299	6502	24406610	SO:0001583	missense	8756	exon16			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1820G>A	8.37:g.24350720G>A	ENSP00000175238:p.Gly607Glu	Somatic		Capture	SOLID	Phase_I	24406610	NM_003817	A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075895	0.55646	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.79454	-0.78;-0.8;-1.27	5.64	5.64	0.86602	ADAM, cysteine-rich (1);	0.000000	0.53938	D	0.000058	D	0.90584	0.7048	M	0.92649	3.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69142	0.962;0.962	D	0.92467	0.5982	10	0.87932	D	0	.	17.2021	0.86908	0.0:0.0:1.0:0.0	.	379;607	E5RK87;Q9H2U9	.;ADAM7_HUMAN	E	607;607;379;422	ENSP00000175238:G607E;ENSP00000370166:G607E;ENSP00000430400:G379E	ENSP00000175238:G607E	G	+	2	0	ADAM7	24406610	1.000000	0.71417	1.000000	0.80357	0.117000	0.20001	6.716000	0.74702	2.676000	0.91093	0.557000	0.71058	GGA		0.358	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817	
DOCK5	80005	hgsc.bcm.edu	37	8	25178496	25178496	+	Splice_Site	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:25178496G>A	ENST00000276440.7	+	16	1587	c.1543G>A	c.(1543-1545)Gta>Ata	p.V515I		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	515	DHR-1.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.V515I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TATGACACAGGTATCCATTGC	0.358																																					p.V515I	Pancreas(145;34 1887 3271 10937 30165)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1543A	8						.						77.0	71.0	73.0					8																	25178496		2203	4300	6503	25234413	SO:0001630	splice_region_variant	80005	exon16				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.1543-1G>A	8.37:g.25178496G>A		Somatic		Capture	SOLID	Phase_I	25234413	NM_024940	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.93|15.93	2.979089|2.979089	0.53827|0.53827	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000444569|ENST00000276440	.|T	.|0.13089	.|2.62	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.22399|0.22399	0.0540|0.0540	L|L	0.50993|0.50993	1.605|1.605	0.80722|0.80722	D|D	1|1	.|P;B;P	.|0.38280	.|0.625;0.412;0.625	.|B;B;B	.|0.43445	.|0.42;0.31;0.42	T|T	0.00238|0.00238	-1.1889|-1.1889	5|9	.|.	.|.	.|.	.|.	20.8598|20.8598	0.99761|0.99761	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|505;290;515	.|D3DSS6;Q68DL4;Q9H7D0	.|.;.;DOCK5_HUMAN	D|I	286|515	.|ENSP00000276440:V515I	.|.	G|V	+|+	2|1	0|0	DOCK5|DOCK5	25234413|25234413	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.332000|0.332000	0.28634|0.28634	9.189000|9.189000	0.94928|0.94928	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GGT|GTA		0.358	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	Missense_Mutation
ADRA1A	148	hgsc.bcm.edu	37	8	26722391	26722391	+	Silent	SNP	G	G	T	rs562504142		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:26722391G>T	ENST00000519229.1	-	1	102	c.96C>A	c.(94-96)atC>atA	p.I32I	ADRA1A_ENST00000380587.1_Silent_p.I32I|ADRA1A_ENST00000276393.4_Silent_p.I32I|ADRA1A_ENST00000380586.1_Silent_p.I32I|ADRA1A_ENST00000380572.3_Silent_p.I32I|ADRA1A_ENST00000358857.5_Silent_p.I32I|ADRA1A_ENST00000380582.3_Silent_p.I32I|ADRA1A_ENST00000380581.2_Silent_p.I32I|ADRA1A_ENST00000354550.4_Silent_p.I32I|ADRA1A_ENST00000380573.3_Silent_p.I32I			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	102				MTFRDLLSVSFEGPRPDSSAGGSSAGGGGGSAGGAAPSEGP AVGGVPGGAGGGGGVVGAGSGEDNRSSAGEPGSAGAGGDVN G -> MAAALRSVMMAGYLSEWRTPTYRSTEMVQRLRMEAV QHSTS (in Ref. 1). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)	p.I32I(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	GGCCCCCCAAGATCACCCCGA	0.572																																					p.I32I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C96A	8						.						165.0	189.0	180.0					8																	26722391		2203	4300	6503	26778308	SO:0001819	synonymous_variant	148	exon1			L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.96C>A	8.37:g.26722391G>T		Somatic		Capture	SOLID	Phase_I	26778308	NM_033304	Q9NPY0	Silent	SNP	ENST00000519229.1	37																																																																																					0.572	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303	
ELP3	55140	hgsc.bcm.edu	37	8	28017878	28017878	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:28017878G>A	ENST00000256398.8	+	13	1767	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K	ELP3_ENST00000524103.1_Missense_Mutation_p.E392K|ELP3_ENST00000380353.4_Missense_Mutation_p.E372K|ELP3_ENST00000542181.1_Missense_Mutation_p.E335K|ELP3_ENST00000537665.1_Missense_Mutation_p.E345K|ELP3_ENST00000521015.1_Missense_Mutation_p.E450K	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	464	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)	p.E464K(1)		kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		TTTCCGTTTCGAATTGGGTGG	0.478																																					p.E464K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1390A	8						.						162.0	138.0	146.0					8																	28017878		2203	4300	6503	28073797	SO:0001583	missense	55140	exon13				CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Elongator acetyltransferase complex subunits"""	20696	protein-coding gene	gene with protein product		612722	"""elongation protein 3 homolog (S. cerevisiae)"""			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.1390G>A	8.37:g.28017878G>A	ENSP00000256398:p.Glu464Lys	Somatic		Capture	SOLID	Phase_I	28073797	NM_018091	B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Missense_Mutation	SNP	ENST00000256398.8	37	CCDS6065.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388163	0.82902	.	.	ENSG00000134014	ENST00000521015;ENST00000256398;ENST00000542181;ENST00000524103;ENST00000537665;ENST00000380353;ENST00000523357;ENST00000517975	.	.	.	5.17	5.17	0.71159	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.80465	0.4628	H	0.95982	3.75	0.80722	D	1	B;P	0.38148	0.157;0.62	B;B	0.41723	0.159;0.365	D	0.85565	0.1230	9	0.59425	D	0.04	-24.9829	16.5174	0.84304	0.0:0.0:1.0:0.0	.	345;464	B4DE19;Q9H9T3	.;ELP3_HUMAN	K	450;464;335;392;345;372;63;57	.	ENSP00000256398:E464K	E	+	1	0	ELP3	28073797	1.000000	0.71417	0.817000	0.32601	0.756000	0.42949	9.785000	0.99042	2.543000	0.85770	0.655000	0.94253	GAA		0.478	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2	NM_018091	
FUT10	84750	hgsc.bcm.edu	37	8	33310837	33310837	+	Silent	SNP	C	C	T	rs118096515	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:33310837C>T	ENST00000327671.5	-	3	904	c.273G>A	c.(271-273)acG>acA	p.T91T	FUT10_ENST00000524021.1_Silent_p.T63T|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000518672.1_Silent_p.T63T|FUT10_ENST00000335589.3_Missense_Mutation_p.G17R	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	91					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)	p.T91T(1)		cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		CAGTCTCCCCCGTCAGCGGGG	0.468													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19897	0.0		0.001	False		,,,				2504	0.0				p.T91T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G273A	8						.	C		0,4406		0,0,2203	118.0	107.0	110.0		273	-3.9	1.0	8	dbSNP_133	110	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	FUT10	NM_032664.3		0,5,6498	TT,TC,CC		0.0581,0.0,0.0384		91/480	33310837	5,13001	2203	4300	6503	33430379	SO:0001819	synonymous_variant	84750	exon3			AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"""Fucosyltransferases"""	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.273G>A	8.37:g.33310837C>T		Somatic		Capture	SOLID	Phase_I	33430379	NM_032664	A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Silent	SNP	ENST00000327671.5	37	CCDS6088.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.493	0.459154	0.12342	0.0	5.81E-4	ENSG00000172728	ENST00000335589	T	0.36520	1.25	5.73	-3.9	0.04181	.	.	.	.	.	T	0.19287	0.0463	.	.	.	0.24352	N	0.994914	B	0.10296	0.003	B	0.10450	0.005	T	0.21895	-1.0232	8	0.42905	T	0.14	-9.3672	2.7308	0.05226	0.3164:0.329:0.26:0.0946	.	17	Q6P4F1-3	.	R	17	ENSP00000334997:G17R	ENSP00000334997:G17R	G	-	1	0	FUT10	33430379	0.003000	0.15002	0.965000	0.40720	0.108000	0.19459	-1.662000	0.01970	-0.730000	0.04869	-2.944000	0.00085	GGG		0.468	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1	NM_032664	
BAG4	9530	hgsc.bcm.edu	37	8	38065040	38065040	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:38065040C>A	ENST00000287322.4	+	3	660	c.389C>A	c.(388-390)tCt>tAt	p.S130Y	BAG4_ENST00000432471.2_Missense_Mutation_p.S94Y|BAG4_ENST00000521282.1_3'UTR	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	130					cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to tumor necrosis factor (GO:0071356)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA modification (GO:0090367)|negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:2001145)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein localization to plasma membrane (GO:0072659)|ruffle assembly (GO:0097178)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)	p.S130Y(1)		breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				AGTTTGAATTCTTATACAAAT	0.413																																					p.S130Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C389A	8						.						67.0	62.0	64.0					8																	38065040		2203	4300	6503	38184197	SO:0001583	missense	9530	exon3			AF095194	CCDS6104.1, CCDS56533.1	8p11.23	2008-08-07			ENSG00000156735	ENSG00000156735			940	protein-coding gene	gene with protein product	"""silencer of death domains"""	603884				9873016, 9915703	Standard	NM_004874		Approved	SODD	uc003xky.2	O95429	OTTHUMG00000164064	ENST00000287322.4:c.389C>A	8.37:g.38065040C>A	ENSP00000287322:p.Ser130Tyr	Somatic		Capture	SOLID	Phase_I	38184197	NM_004874	B4E217|O95818	Missense_Mutation	SNP	ENST00000287322.4	37	CCDS6104.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030202	0.75504	.	.	ENSG00000156735	ENST00000432471;ENST00000287322	D;D	0.84660	-1.57;-1.88	5.21	5.21	0.72293	.	0.201137	0.42294	D	0.000724	D	0.91405	0.7288	M	0.67953	2.075	0.43275	D	0.995236	D;D	0.71674	0.997;0.998	D;D	0.80764	0.98;0.994	D	0.91279	0.5050	10	0.48119	T	0.1	-21.2879	17.7353	0.88391	0.0:1.0:0.0:0.0	.	94;130	B4E217;O95429	.;BAG4_HUMAN	Y	94;130	ENSP00000393298:S94Y;ENSP00000287322:S130Y	ENSP00000287322:S130Y	S	+	2	0	BAG4	38184197	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	5.026000	0.64103	2.406000	0.81754	0.650000	0.86243	TCT		0.413	BAG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377038.2	NM_004874	
DDHD2	23259	hgsc.bcm.edu	37	8	38103793	38103793	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:38103793C>A	ENST00000397166.2	+	9	1625	c.1100C>A	c.(1099-1101)tCt>tAt	p.S367Y	DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000520272.2_Missense_Mutation_p.S367Y|DDHD2_ENST00000517385.1_5'Flank	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	367					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.S367Y(1)|p.S367F(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			CAGAAAGATTCTTTGGGGGAT	0.313																																					p.S367Y												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C1100A	8						.						108.0	115.0	112.0					8																	38103793		2202	4299	6501	38222950	SO:0001583	missense	23259	exon9			AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.1100C>A	8.37:g.38103793C>A	ENSP00000380352:p.Ser367Tyr	Somatic		Capture	SOLID	Phase_I	38222950	NM_015214	B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	37	CCDS34883.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.613|1.613	-0.523423|-0.523423	0.04141|0.04141	.|.	.|.	ENSG00000085788|ENSG00000085788	ENST00000532106|ENST00000397166;ENST00000520272;ENST00000440212	.|T;T	.|0.33216	.|1.42;1.42	5.44|5.44	4.54|4.54	0.55810|0.55810	.|.	.|0.636954	.|0.15398	.|N	.|0.264470	T|T	0.23014|0.23014	0.0556|0.0556	L|L	0.46741|0.46741	1.465|1.465	0.80722|0.80722	D|D	1|1	.|B;B	.|0.20988	.|0.05;0.018	.|B;B	.|0.20184	.|0.021;0.028	T|T	0.03684|0.03684	-1.1013|-1.1013	5|10	.|0.02654	.|T	.|1	-11.2663|-11.2663	10.6667|10.6667	0.45734|0.45734	0.134:0.7917:0.0:0.0742|0.134:0.7917:0.0:0.0742	.|.	.|179;367	.|B4DSR3;O94830	.|.;DDHD2_HUMAN	I|Y	160|367;367;179	.|ENSP00000380352:S367Y;ENSP00000429932:S367Y	.|ENSP00000380352:S367Y	L|S	+|+	1|2	0|0	DDHD2|DDHD2	38222950|38222950	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.577000|2.577000	0.46042|0.46042	2.714000|2.714000	0.92807|0.92807	0.585000|0.585000	0.79938|0.79938	CTT|TCT		0.313	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291	
WHSC1L1	54904	hgsc.bcm.edu	37	8	38186924	38186924	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:38186924A>C	ENST00000317025.8	-	6	2070	c.1553T>G	c.(1552-1554)tTt>tGt	p.F518C	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.F518C|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.F518C|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.F518C	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	518					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.F518C(2)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TTGATCGATAAATTTCCCATC	0.383			T	NUP98	AML																																p.F518C			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1553G	8						.						76.0	75.0	75.0					8																	38186924		2203	4300	6503	38306081	SO:0001583	missense	54904	exon6			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.1553T>G	8.37:g.38186924A>C	ENSP00000313983:p.Phe518Cys	Somatic		Capture	SOLID	Phase_I	38306081	NM_023034	B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.987698	0.74589	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502;ENST00000316985	D;D;D;T	0.95035	-3.58;-3.59;-3.59;-0.1	5.76	5.76	0.90799	.	0.132994	0.33980	U	0.004378	D	0.90188	0.6933	N	0.22421	0.69	0.35964	D	0.83478	P;P;B;P	0.48016	0.761;0.904;0.037;0.761	B;B;B;B	0.42653	0.221;0.394;0.008;0.221	D	0.92512	0.6017	10	0.39692	T	0.17	.	14.6506	0.68794	1.0:0.0:0.0:0.0	.	518;518;518;518	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	C	518;518;455;518;518	ENSP00000393284:F518C;ENSP00000313983:F518C;ENSP00000434730:F518C;ENSP00000313410:F518C	ENSP00000313410:F518C	F	-	2	0	WHSC1L1	38306081	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.802000	0.62539	2.195000	0.70347	0.528000	0.53228	TTT		0.383	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034	
ANK1	286	hgsc.bcm.edu	37	8	41513261	41513261	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:41513261C>T	ENST00000347528.4	-	42	5714	c.5631G>A	c.(5629-5631)tcG>tcA	p.S1877S	ANK1_ENST00000396942.1_3'UTR|ANK1_ENST00000265709.8_Silent_p.S1893S|ANK1_ENST00000457297.1_Silent_p.S105S|ANK1_ENST00000522543.1_Silent_p.S152S|ANK1_ENST00000289734.7_3'UTR|ANK1_ENST00000314214.8_3'UTR|ANK1_ENST00000379758.2_Silent_p.S1830S|ANK1_ENST00000522231.1_Silent_p.S127S|ANK1_ENST00000352337.4_3'UTR|ANK1_ENST00000396945.1_Silent_p.S1802S	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1877	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.S1877S(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGTTGGGTGTCGAGGTGTGAT	0.567																																					p.S152S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G456A	8						.						158.0	141.0	147.0					8																	41513261		2203	4300	6503	41632418	SO:0001819	synonymous_variant	286	exon4			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5631G>A	8.37:g.41513261C>T		Somatic		Capture	SOLID	Phase_I	41632418	NM_001142445	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	CCDS6119.1																																																																																				0.567	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475	
SNTG1	54212	hgsc.bcm.edu	37	8	51363267	51363267	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:51363267G>A	ENST00000522124.1	+	8	1002	c.341G>A	c.(340-342)aGa>aAa	p.R114K	SNTG1_ENST00000518864.1_Missense_Mutation_p.R114K|SNTG1_ENST00000276467.5_Missense_Mutation_p.R114K|SNTG1_ENST00000517473.1_Missense_Mutation_p.R114K	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	114	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)	p.R114K(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ATTAATGTGAGAAAATGTAGA	0.323																																					p.R114K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G341A	8						.						142.0	134.0	137.0					8																	51363267		2203	4299	6502	51525820	SO:0001583	missense	54212	exon8			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.341G>A	8.37:g.51363267G>A	ENSP00000429842:p.Arg114Lys	Somatic		Capture	SOLID	Phase_I	51525820	NM_018967	Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547496	0.65311	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	5.62	5.62	0.85841	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.40094	0.1103	N	0.13098	0.295	0.58432	D	0.999996	P;P	0.49185	0.56;0.92	B;D	0.66716	0.195;0.946	T	0.40175	-0.9577	10	0.66056	D	0.02	.	17.1564	0.86792	0.0:0.0:1.0:0.0	.	114;114	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	K	114	ENSP00000429276:R114K;ENSP00000429842:R114K;ENSP00000431123:R114K;ENSP00000276467:R114K	ENSP00000276467:R114K	R	+	2	0	SNTG1	51525820	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.791000	0.75120	2.643000	0.89663	0.655000	0.94253	AGA		0.323	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1		
RP1	6101	hgsc.bcm.edu	37	8	55542638	55542638	+	Missense_Mutation	SNP	G	G	A	rs149282954	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:55542638G>A	ENST00000220676.1	+	4	6344	c.6196G>A	c.(6196-6198)Gat>Aat	p.D2066N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2066			D -> N (in dbSNP:rs149282954). {ECO:0000269|PubMed:11527933}.		axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.D2066N(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAAAGCAGTCGATGAGAATAA	0.338													G|||	2	0.000399361	0.0	0.0	5008	,	,		17732	0.0		0.001	False		,,,				2504	0.001				p.D2066N	Colon(91;1014 1389 7634 14542 40420)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6196A	8						.	G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	52.0	53.0	53.0		6196	5.8	1.0	8	dbSNP_134	53	5,8595	4.3+/-15.6	0,5,4295	yes	missense	RP1	NM_006269.1	23	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	probably-damaging	2066/2157	55542638	6,13000	2203	4300	6503	55705191	SO:0001583	missense	6101	exon4			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.6196G>A	8.37:g.55542638G>A	ENSP00000220676:p.Asp2066Asn	Somatic		Capture	SOLID	Phase_I	55705191	NM_006269		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	19.93	3.918691	0.73098	2.27E-4	5.81E-4	ENSG00000104237	ENST00000220676	T	0.44881	0.91	5.76	5.76	0.90799	.	0.111105	0.40064	N	0.001190	T	0.58963	0.2159	M	0.66939	2.045	0.34926	D	0.748903	D	0.76494	0.999	P	0.56088	0.791	T	0.70085	-0.4969	10	0.87932	D	0	.	18.1401	0.89637	0.0:0.0:1.0:0.0	.	2066	P56715	RP1_HUMAN	N	2066	ENSP00000220676:D2066N	ENSP00000220676:D2066N	D	+	1	0	RP1	55705191	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	4.597000	0.61062	2.726000	0.93360	0.655000	0.94253	GAT		0.338	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269	
ARFGEF1	10565	hgsc.bcm.edu	37	8	68152480	68152480	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:68152480C>T	ENST00000262215.3	-	20	3285	c.2896G>A	c.(2896-2898)Gat>Aat	p.D966N	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.D420N|ARFGEF1_ENST00000518230.1_5'Flank	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	966					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.D966N(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCATCACAATCTTGTAGACCC	0.343																																					p.D966N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2896A	8						.						110.0	100.0	103.0					8																	68152480		2203	4300	6503	68315034	SO:0001583	missense	10565	exon20			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.2896G>A	8.37:g.68152480C>T	ENSP00000262215:p.Asp966Asn	Somatic		Capture	SOLID	Phase_I	68315034	NM_006421	Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454515	0.63290	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.52057	0.68;0.68	5.84	5.84	0.93424	Armadillo-type fold (1);	0.047993	0.85682	D	0.000000	T	0.43809	0.1264	L	0.41415	1.275	0.80722	D	1	B;B	0.17038	0.02;0.012	B;B	0.19666	0.026;0.009	T	0.19353	-1.0308	10	0.23302	T	0.38	.	20.1466	0.98079	0.0:1.0:0.0:0.0	.	966;420	Q9Y6D6;E5RIF2	BIG1_HUMAN;.	N	420;966	ENSP00000428429:D420N;ENSP00000262215:D966N	ENSP00000262215:D966N	D	-	1	0	ARFGEF1	68315034	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.779000	0.95612	0.591000	0.81541	GAT		0.343	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421	
KCNB2	9312	hgsc.bcm.edu	37	8	73480333	73480333	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:73480333G>T	ENST00000523207.1	+	2	952	c.364G>T	c.(364-366)Gaa>Taa	p.E122*		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	122					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.E122*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GTTTGGCCAAGAACTTGATTA	0.443																																					p.E122X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G364T	8						.						95.0	99.0	98.0					8																	73480333		2203	4300	6503	73642887	SO:0001587	stop_gained	9312	exon2			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.364G>T	8.37:g.73480333G>T	ENSP00000430846:p.Glu122*	Somatic		Capture	SOLID	Phase_I	73642887	NM_004770	Q7Z7D0|Q9BXD3	Nonsense_Mutation	SNP	ENST00000523207.1	37	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	44	10.581693	0.99431	.	.	ENSG00000182674	ENST00000523207	.	.	.	6.07	6.07	0.98685	.	0.000000	0.33875	U	0.004470	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.2697	0.98465	0.0:0.0:1.0:0.0	.	.	.	.	X	122	.	ENSP00000430846:E122X	E	+	1	0	KCNB2	73642887	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	GAA		0.443	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770	
KCNB2	9312	hgsc.bcm.edu	37	8	73480447	73480447	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:73480447C>T	ENST00000523207.1	+	2	1066	c.478C>T	c.(478-480)Cga>Tga	p.R160*		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	160					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.R160*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AGAGACTATGCGAGAGCGAGA	0.463																																					p.R160X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C478T	8						.						134.0	141.0	139.0					8																	73480447		2203	4300	6503	73643001	SO:0001587	stop_gained	9312	exon2			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.478C>T	8.37:g.73480447C>T	ENSP00000430846:p.Arg160*	Somatic		Capture	SOLID	Phase_I	73643001	NM_004770	Q7Z7D0|Q9BXD3	Nonsense_Mutation	SNP	ENST00000523207.1	37	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	41	8.732450	0.98933	.	.	ENSG00000182674	ENST00000523207	.	.	.	6.07	4.09	0.47781	.	0.000000	0.29767	U	0.011252	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8951	0.63766	0.518:0.482:0.0:0.0	.	.	.	.	X	160	.	ENSP00000430846:R160X	R	+	1	2	KCNB2	73643001	1.000000	0.71417	0.991000	0.47740	0.419000	0.31324	1.848000	0.39309	0.822000	0.34565	-0.181000	0.13052	CGA		0.463	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770	
ATP6V0D2	245972	hgsc.bcm.edu	37	8	87165172	87165172	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:87165172G>A	ENST00000285393.3	+	8	1161	c.1019G>A	c.(1018-1020)cGa>cAa	p.R340Q	CTD-3118D11.2_ENST00000522679.1_RNA|CTD-3118D11.2_ENST00000524253.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	340					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)	p.R340Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						CAGAGGCATCGAACTAAAATC	0.308																																					p.R340Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1019A	8						.						110.0	105.0	107.0					8																	87165172		2203	4300	6503	87234288	SO:0001583	missense	245972	exon8			AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"""ATPases / V-type"""	18266	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"""			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	ENST00000285393.3:c.1019G>A	8.37:g.87165172G>A	ENSP00000285393:p.Arg340Gln	Somatic		Capture	SOLID	Phase_I	87234288	NM_152565		Missense_Mutation	SNP	ENST00000285393.3	37	CCDS6241.1	.	.	.	.	.	.	.	.	.	.	G	31	5.067679	0.93898	.	.	ENSG00000147614	ENST00000285393	T	0.29917	1.55	6.16	5.29	0.74685	.	0.066308	0.56097	D	0.000021	T	0.51312	0.1667	M	0.92923	3.36	0.80722	D	1	P	0.50528	0.936	P	0.46585	0.521	T	0.66324	-0.5952	10	0.72032	D	0.01	-20.0013	14.6377	0.68702	0.0689:0.0:0.9311:0.0	.	340	Q8N8Y2	VA0D2_HUMAN	Q	340	ENSP00000285393:R340Q	ENSP00000285393:R340Q	R	+	2	0	ATP6V0D2	87234288	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.683000	0.74533	1.632000	0.50472	-0.142000	0.14014	CGA		0.308	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565	
CNGB3	54714	hgsc.bcm.edu	37	8	87641195	87641195	+	Nonsense_Mutation	SNP	G	G	A	rs201320564		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:87641195G>A	ENST00000320005.5	-	12	1479	c.1432C>T	c.(1432-1434)Cga>Tga	p.R478*		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	478					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.R478*(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GTCCGAACTCGCTTTTGCACA	0.428																																					p.R478X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1432T	8	GRCh37	CM050557	CNGB3	M		.	G	stop/ARG	0,4406		0,0,2203	236.0	220.0	225.0		1432	3.1	0.1	8		225	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	CNGB3	NM_019098.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		478/810	87641195	1,13005	2203	4300	6503	87710311	SO:0001587	stop_gained	54714	exon12			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1432C>T	8.37:g.87641195G>A	ENSP00000316605:p.Arg478*	Somatic		Capture	SOLID	Phase_I	87710311	NM_019098	C9JA51|Q9NRE9	Nonsense_Mutation	SNP	ENST00000320005.5	37	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	G	38	6.920430	0.97936	0.0	1.16E-4	ENSG00000170289	ENST00000320005	.	.	.	5.92	3.06	0.35304	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.132	0.72533	0.0:0.0:0.6302:0.3698	.	.	.	.	X	478	.	ENSP00000316605:R478X	R	-	1	2	CNGB3	87710311	1.000000	0.71417	0.126000	0.21872	0.953000	0.61014	3.056000	0.49923	0.354000	0.24105	-0.324000	0.08512	CGA		0.428	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098	
CYP11B1	1584	hgsc.bcm.edu	37	8	143961005	143961005	+	Silent	SNP	T	T	C	rs6410	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr8:143961005T>C	ENST00000292427.4	-	1	257	c.225A>G	c.(223-225)ctA>ctG	p.L75L	CYP11B1_ENST00000517471.1_Silent_p.L75L|CYP11B1_ENST00000377675.3_Silent_p.L75L	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	75					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	AAATGGGCCCTAGTTCCTGGA	0.632									Familial Hyperaldosteronism type I				.|||	2925	0.584065	0.4175	0.6268	5008	,	,		19296	0.752		0.5557	False		,,,				2504	0.635				p.L75L												.	.	0			c.A225G	8						.	C	,	1949,2457	621.9+/-393.8	461,1027,715	79.0	74.0	76.0		225,225	2.2	1.0	8	dbSNP_52	76	4654,3946	549.3+/-385.5	1253,2148,899	no	coding-synonymous,coding-synonymous	CYP11B1	NM_000497.3,NM_001026213.1	,	1714,3175,1614	CC,CT,TT		45.8837,44.2351,49.2311	,	75/504,75/438	143961005	6603,6403	2203	4300	6503	143958007	SO:0001819	synonymous_variant	1584	exon1	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.225A>G	8.37:g.143961005T>C		Somatic		Capture	SOLID	Phase_I	143958007	NM_001026213	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	CCDS6392.1																																																																																				0.632	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2		
DAZAP1	26528	hgsc.bcm.edu	37	19	1418668	1418668	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:1418668G>A	ENST00000233078.4	+	4	402	c.241G>A	c.(241-243)Gac>Aac	p.D81N	DAZAP1_ENST00000586579.1_3'UTR|DAZAP1_ENST00000336761.6_Missense_Mutation_p.D81N	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	81	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)	p.D81N(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGCAGATCGACCCCAAGCC	0.597																																					p.D81N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G241A	19						.						74.0	84.0	81.0					19																	1418668		2203	4300	6503	1369668	SO:0001583	missense	26528	exon4				CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"""RNA binding motif (RRM) containing"""	2683	protein-coding gene	gene with protein product	"""deleted in azoospermia associated protein 1"""	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.241G>A	19.37:g.1418668G>A	ENSP00000233078:p.Asp81Asn	Somatic		Capture	SOLID	Phase_I	1369668	NM_018959	Q96MJ3|Q9NRR9	Missense_Mutation	SNP	ENST00000233078.4	37	CCDS12065.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479588	0.84747	.	.	ENSG00000071626	ENST00000233078;ENST00000336761	D;D	0.85861	-2.04;-2.04	4.85	4.85	0.62838	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	D	0.91175	0.7220	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92284	0.5836	10	0.87932	D	0	.	16.9297	0.86187	0.0:0.0:1.0:0.0	.	81;81	Q96EP5;Q96EP5-2	DAZP1_HUMAN;.	N	81	ENSP00000233078:D81N;ENSP00000337132:D81N	ENSP00000233078:D81N	D	+	1	0	DAZAP1	1369668	1.000000	0.71417	0.997000	0.53966	0.447000	0.32167	9.563000	0.98148	2.241000	0.73720	0.491000	0.48974	GAC		0.597	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3	NM_170711	
DNMT1	1786	hgsc.bcm.edu	37	19	10246814	10246814	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:10246814C>G	ENST00000340748.4	-	37	4826	c.4591G>C	c.(4591-4593)Gag>Cag	p.E1531Q	DNMT1_ENST00000540357.1_Missense_Mutation_p.E1534Q|DNMT1_ENST00000359526.4_Missense_Mutation_p.E1547Q			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1531	Catalytic.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.E1531Q(2)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CCCATGGGCTCGGGGTTGGTG	0.642																																					p.E1531Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4591C	19						.						41.0	42.0	42.0					19																	10246814		2203	4300	6503	10107814	SO:0001583	missense	1786	exon37			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.4591G>C	19.37:g.10246814C>G	ENSP00000345739:p.Glu1531Gln	Somatic		Capture	SOLID	Phase_I	10107814	NM_001379	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077980	0.76528	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.42513	0.97;0.97;0.97	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.59169	0.2174	L	0.54323	1.7	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.51973	-0.8637	10	0.21540	T	0.41	-25.2475	17.5034	0.87738	0.0:1.0:0.0:0.0	.	1534;1547;1531	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	Q	1547;1534;1531;1399	ENSP00000352516:E1547Q;ENSP00000440457:E1534Q;ENSP00000345739:E1531Q	ENSP00000345739:E1531Q	E	-	1	0	DNMT1	10107814	1.000000	0.71417	0.984000	0.44739	0.980000	0.70556	7.377000	0.79668	2.426000	0.82243	0.555000	0.69702	GAG		0.642	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379	
ZNF333	84449	hgsc.bcm.edu	37	19	14829800	14829800	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:14829800G>A	ENST00000292530.6	+	12	1752	c.1661G>A	c.(1660-1662)cGa>cAa	p.R554Q	ZNF333_ENST00000536363.1_Missense_Mutation_p.R445Q|ZNF333_ENST00000540689.2_Intron	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	554					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.R554Q(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						AGTCACATGCGAACTCACACT	0.537																																					p.R554Q	NSCLC(60;75 1281 16985 25154 29885)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1661A	19						.						94.0	69.0	78.0					19																	14829800		2203	4300	6503	14690800	SO:0001583	missense	84449	exon12				CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.1661G>A	19.37:g.14829800G>A	ENSP00000292530:p.Arg554Gln	Somatic		Capture	SOLID	Phase_I	14690800	NM_032433	Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	ENST00000292530.6	37	CCDS12316.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729338	0.69074	.	.	ENSG00000160961	ENST00000536363;ENST00000292530	T;T	0.24723	1.84;1.84	3.26	1.1	0.20463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28499	0.0705	M	0.74389	2.26	0.23406	N	0.997745	D	0.63880	0.993	P	0.44811	0.461	T	0.22068	-1.0227	9	0.72032	D	0.01	.	4.8585	0.13571	0.289:0.0:0.711:0.0	.	554	Q96JL9	ZN333_HUMAN	Q	445;554	ENSP00000439749:R445Q;ENSP00000292530:R554Q	ENSP00000292530:R554Q	R	+	2	0	ZNF333	14690800	0.459000	0.25768	0.994000	0.49952	0.999000	0.98932	3.622000	0.54217	0.715000	0.32103	0.655000	0.94253	CGA		0.537	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433	
CYP4F22	126410	hgsc.bcm.edu	37	19	15654983	15654983	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:15654983G>A	ENST00000269703.3	+	10	1228	c.1029G>A	c.(1027-1029)ggG>ggA	p.G343G	CYP4F22_ENST00000601005.2_Silent_p.G343G	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	343						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.G343G(1)		endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CATCCAGTGGGATCTCTTGGA	0.502																																					p.G343G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1029A	19						.						124.0	113.0	117.0					19																	15654983		2203	4300	6503	15515983	SO:0001819	synonymous_variant	126410	exon10				CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.1029G>A	19.37:g.15654983G>A		Somatic		Capture	SOLID	Phase_I	15515983	NM_173483	Q8N8H4	Silent	SNP	ENST00000269703.3	37	CCDS12331.1																																																																																				0.502	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483	
CYP4F2	8529	hgsc.bcm.edu	37	19	16006346	16006346	+	Missense_Mutation	SNP	C	C	T	rs372270252		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:16006346C>T	ENST00000221700.6	-	3	408	c.313G>A	c.(313-315)Gac>Aac	p.D105N	CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.D105N(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CGGATGATGTCGGGGTGGCAC	0.597																																					p.D105N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G313A	19						.						124.0	133.0	130.0					19																	16006346		2203	4300	6503	15867346	SO:0001583	missense	8529	exon3			U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.313G>A	19.37:g.16006346C>T	ENSP00000221700:p.Asp105Asn	Somatic		Capture	SOLID	Phase_I	15867346	NM_001082		Missense_Mutation	SNP	ENST00000221700.6	37	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	c	18.07	3.542546	0.65198	.	.	ENSG00000186115	ENST00000221700	D	0.95918	-3.85	2.91	2.91	0.33838	.	0.075592	0.49916	N	0.000128	D	0.93210	0.7837	L	0.59436	1.845	0.80722	D	1	B	0.14012	0.009	B	0.23574	0.047	D	0.91691	0.5366	10	0.54805	T	0.06	.	11.5807	0.50889	0.0:1.0:0.0:0.0	.	105	P78329	CP4F2_HUMAN	N	105	ENSP00000221700:D105N	ENSP00000221700:D105N	D	-	1	0	CYP4F2	15867346	0.111000	0.22076	0.363000	0.25875	0.681000	0.39784	1.237000	0.32695	1.611000	0.50210	0.305000	0.20034	GAC		0.597	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082	
FAM129C	199786	hgsc.bcm.edu	37	19	17638166	17638166	+	Missense_Mutation	SNP	C	C	T	rs370585817		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:17638166C>T	ENST00000335393.4	+	2	248	c.110C>T	c.(109-111)tCg>tTg	p.S37L	FAM129C_ENST00000601861.1_Missense_Mutation_p.S6L|FAM129C_ENST00000599124.1_Missense_Mutation_p.S6L|FAM129C_ENST00000599164.1_Missense_Mutation_p.S6L|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000332386.5_Missense_Mutation_p.S37L|FAM129C_ENST00000352727.3_Missense_Mutation_p.S37L|FAM129C_ENST00000600871.1_Missense_Mutation_p.S6L|FAM129C_ENST00000595684.1_Missense_Mutation_p.S37L|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000300971.2_Missense_Mutation_p.S37L	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	37								p.S37L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GGGCGGCCTTCGAGCCCTCTG	0.701													C|||	1	0.000199681	0.0	0.0	5008	,	,		11360	0.0		0.001	False		,,,				2504	0.0				p.S37L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C110T	19						.	C	LEU/SER,LEU/SER	0,4002		0,0,2001	23.0	19.0	20.0		110,110	4.2	0.3	19		20	1,7835		0,1,3917	no	missense,missense	FAM129C	NM_001098524.1,NM_173544.4	145,145	0,1,5918	TT,TC,CC		0.0128,0.0,0.0084	probably-damaging,probably-damaging	37/652,37/698	17638166	1,11837	2001	3918	5919	17499166	SO:0001583	missense	199786	exon2			AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.110C>T	19.37:g.17638166C>T	ENSP00000335040:p.Ser37Leu	Somatic		Capture	SOLID	Phase_I	17499166	NM_001098524	B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	ENST00000335393.4	37	CCDS12362.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630128	0.46944	0.0	1.28E-4	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000300971;ENST00000435646	T;T;T;T	0.52754	0.96;0.95;0.72;0.65	4.16	4.16	0.48862	.	0.000000	0.40302	N	0.001134	T	0.64416	0.2596	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.67925	-0.5544	10	0.87932	D	0	-16.8406	12.1271	0.53922	0.0:1.0:0.0:0.0	.	37;37	Q86XR2;Q86XR2-3	NIBL2_HUMAN;.	L	37;37;37;37;6	ENSP00000335040:S37L;ENSP00000333447:S37L;ENSP00000341067:S37L;ENSP00000300971:S37L	ENSP00000300971:S37L	S	+	2	0	FAM129C	17499166	0.514000	0.26202	0.329000	0.25429	0.053000	0.15095	3.458000	0.53014	2.322000	0.78497	0.491000	0.48974	TCG		0.701	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544	
BTBD2	55643	hgsc.bcm.edu	37	19	1986520	1986520	+	Silent	SNP	G	G	A	rs7253519	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:1986520G>A	ENST00000255608.4	-	9	1561	c.1545C>T	c.(1543-1545)gaC>gaT	p.D515D	AC005306.3_ENST00000587498.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	515						cytoplasmic mRNA processing body (GO:0000932)				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGATCTGGCCGTCCTCCACGG	0.652													G|||	580	0.115815	0.0832	0.1398	5008	,	,		18950	0.1736		0.1312	False		,,,				2504	0.0675				p.D515D												.	.	0			c.C1545T	19						.	G		375,4031	189.2+/-215.4	15,345,1843	155.0	108.0	124.0		1545	1.1	0.9	19	dbSNP_116	124	1043,7557	221.9+/-259.1	61,921,3318	no	coding-synonymous	BTBD2	NM_017797.3		76,1266,5161	AA,AG,GG		12.1279,8.5111,10.9027		515/526	1986520	1418,11588	2203	4300	6503	1937520	SO:0001819	synonymous_variant	55643	exon9			AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"""BTB/POZ domain containing"""	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.1545C>T	19.37:g.1986520G>A		Somatic		Capture	SOLID	Phase_I	1937520	NM_017797	O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Silent	SNP	ENST00000255608.4	37	CCDS12078.1																																																																																				0.652	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2		
JAK3	3718	hgsc.bcm.edu	37	19	17948799	17948799	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:17948799G>A	ENST00000527670.1	-	11	1672	c.1643C>T	c.(1642-1644)gCc>gTc	p.A548V	JAK3_ENST00000458235.1_Missense_Mutation_p.A548V|JAK3_ENST00000526008.1_5'Flank|JAK3_ENST00000534444.1_Missense_Mutation_p.A548V			P52333	JAK3_HUMAN	Janus kinase 3	548	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.A548V(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	TGTCTTTCGGGCCTCCCCATC	0.572		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																p.A548V			Dom	yes		19	19p13.1	3718	Janus kinase 3		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1643T	19						.						157.0	155.0	156.0					19																	17948799		2203	4300	6503	17809799	SO:0001583	missense	3718	exon12			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1643C>T	19.37:g.17948799G>A	ENSP00000432511:p.Ala548Val	Somatic		Capture	SOLID	Phase_I	17809799	NM_000215	Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	G	3.733	-0.055259	0.07362	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	D;D;D	0.83075	-1.68;-1.68;-1.68	4.93	3.87	0.44632	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.554792	0.16531	N	0.210361	T	0.59569	0.2203	N	0.03903	-0.33	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.45948	-0.9226	10	0.18710	T	0.47	-6.0248	5.6709	0.17721	0.1189:0.1993:0.6818:0.0	.	548;548	P52333-2;P52333	.;JAK3_HUMAN	V	548	ENSP00000391676:A548V;ENSP00000432511:A548V;ENSP00000436421:A548V	ENSP00000413248:A548V	A	-	2	0	JAK3	17809799	0.000000	0.05858	0.427000	0.26684	0.043000	0.13939	0.114000	0.15520	1.002000	0.39104	0.313000	0.20887	GCC		0.572	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215	
ZNF555	148254	hgsc.bcm.edu	37	19	2853376	2853376	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:2853376C>A	ENST00000334241.4	+	4	1451	c.1313C>A	c.(1312-1314)tCt>tAt	p.S438Y	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.S437Y	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	438					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.S438Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		TGGCCCATATCTTTACGAAAA	0.453																																					p.S438Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1313A	19						.						62.0	53.0	56.0					19																	2853376		2203	4300	6503	2804376	SO:0001583	missense	148254	exon4			AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.1313C>A	19.37:g.2853376C>A	ENSP00000334853:p.Ser438Tyr	Somatic		Capture	SOLID	Phase_I	2804376	NM_152791	A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	ENST00000334241.4	37	CCDS12096.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858173	0.32791	.	.	ENSG00000186300	ENST00000334241;ENST00000382127	T	0.07567	3.18	3.22	2.04	0.26737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13927	0.0337	L	0.28014	0.82	0.09310	N	1	D;D	0.71674	0.985;0.998	D;D	0.67900	0.934;0.954	T	0.17623	-1.0363	9	0.42905	T	0.14	.	9.2879	0.37769	0.2146:0.7854:0.0:0.0	.	438;437	Q8NEP9;A8KA89	ZN555_HUMAN;.	Y	438;437	ENSP00000334853:S438Y	ENSP00000334853:S438Y	S	+	2	0	ZNF555	2804376	0.000000	0.05858	0.386000	0.26170	0.800000	0.45204	0.326000	0.19646	1.799000	0.52666	0.561000	0.74099	TCT		0.453	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3	NM_152791	
ZNF556	80032	hgsc.bcm.edu	37	19	2877779	2877779	+	Nonsense_Mutation	SNP	C	C	T	rs139842259		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:2877779C>T	ENST00000307635.2	+	4	910	c.823C>T	c.(823-825)Cga>Tga	p.R275*	ZNF556_ENST00000586426.1_Nonsense_Mutation_p.R274*	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	275					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.R275*(3)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAATCCTTTCGAGTCCATAT	0.527																																					p.R275X												.	.	3	Substitution - Nonsense(3)	large_intestine(2)|lung(1)	c.C823T	19						.	C	stop/ARG	0,4406		0,0,2203	60.0	55.0	56.0		823	-0.8	0.0	19	dbSNP_134	56	2,8598	2.2+/-6.3	0,2,4298	yes	stop-gained	ZNF556	NM_024967.1		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		275/457	2877779	2,13004	2203	4300	6503	2828779	SO:0001587	stop_gained	80032	exon4			BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.823C>T	19.37:g.2877779C>T	ENSP00000302603:p.Arg275*	Somatic		Capture	SOLID	Phase_I	2828779	NM_024967	Q96GM3	Nonsense_Mutation	SNP	ENST00000307635.2	37	CCDS12097.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.391829	0.42410	0.0	2.33E-4	ENSG00000172000	ENST00000307635	.	.	.	1.97	-0.761	0.11038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	7.4808	0.27404	0.6644:0.3356:0.0:0.0	.	.	.	.	X	275	.	ENSP00000302603:R275X	R	+	1	2	ZNF556	2828779	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.060000	0.11712	-0.271000	0.09272	-0.723000	0.03601	CGA		0.527	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967	
ZNF43	7594	hgsc.bcm.edu	37	19	21990551	21990551	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:21990551T>G	ENST00000354959.4	-	4	2457	c.2288A>C	c.(2287-2289)aAa>aCa	p.K763T	ZNF43_ENST00000595461.1_Missense_Mutation_p.K757T|ZNF43_ENST00000598381.1_Missense_Mutation_p.K757T|ZNF43_ENST00000594012.1_Missense_Mutation_p.K757T	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	763					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.K763T(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTCTTTACATTTGTAGGGTTG	0.358																																					p.K763T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2288C	19						.						76.0	79.0	78.0					19																	21990551		2203	4300	6503	21782391	SO:0001583	missense	7594	exon4			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.2288A>C	19.37:g.21990551T>G	ENSP00000347045:p.Lys763Thr	Somatic		Capture	SOLID	Phase_I	21782391	NM_003423	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	T	9.699	1.154060	0.21371	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.35605	1.3	1.76	0.533	0.17121	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32285	0.0824	L	0.52266	1.64	0.09310	N	1	P	0.35174	0.488	B	0.38921	0.285	T	0.24584	-1.0156	9	0.56958	D	0.05	.	6.5964	0.22677	0.0:0.0:0.4907:0.5093	.	763	P17038	ZNF43_HUMAN	T	762;763	ENSP00000347045:K763T	ENSP00000347045:K763T	K	-	2	0	ZNF43	21782391	0.000000	0.05858	0.093000	0.20910	0.859000	0.49053	-2.191000	0.01246	-0.060000	0.13132	0.254000	0.18369	AAA		0.358	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423	
TSHZ3	57616	hgsc.bcm.edu	37	19	31768160	31768160	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:31768160T>C	ENST00000240587.4	-	2	2866	c.2539A>G	c.(2539-2541)Ata>Gta	p.I847V		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	847					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I664V(1)|p.I847V(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ATATCGGATATATCTGACAAG	0.527																																					p.I847V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2539G	19						.						151.0	144.0	146.0					19																	31768160		2203	4300	6503	36460000	SO:0001583	missense	57616	exon2			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2539A>G	19.37:g.31768160T>C	ENSP00000240587:p.Ile847Val	Somatic		Capture	SOLID	Phase_I	36460000	NM_020856	Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	T	20.5	3.993204	0.74703	.	.	ENSG00000121297	ENST00000240587	T	0.18016	2.24	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.18130	0.0435	L	0.57536	1.79	0.80722	D	1	P	0.38078	0.617	B	0.29524	0.103	T	0.02498	-1.1150	10	0.66056	D	0.02	-20.671	15.3715	0.74568	0.0:0.0:0.0:1.0	.	847	Q63HK5	TSH3_HUMAN	V	847	ENSP00000240587:I847V	ENSP00000240587:I847V	I	-	1	0	TSHZ3	36460000	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	7.573000	0.82421	2.024000	0.59613	0.533000	0.62120	ATA		0.527	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856	
TSHZ3	57616	hgsc.bcm.edu	37	19	31768328	31768328	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:31768328C>T	ENST00000240587.4	-	2	2698	c.2371G>A	c.(2371-2373)Gac>Aac	p.D791N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	791					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D791N(1)|p.D608N(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTTGTCAAGTCTATGGGCTGG	0.597																																					p.D791N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2371A	19						.						100.0	84.0	89.0					19																	31768328		2203	4300	6503	36460168	SO:0001583	missense	57616	exon2			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2371G>A	19.37:g.31768328C>T	ENSP00000240587:p.Asp791Asn	Somatic		Capture	SOLID	Phase_I	36460168	NM_020856	Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696109	0.88830	.	.	ENSG00000121297	ENST00000240587	T	0.47869	0.83	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.70263	0.3204	M	0.76170	2.325	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.73691	-0.3903	10	0.87932	D	0	-39.5147	19.1085	0.93307	0.0:1.0:0.0:0.0	.	791	Q63HK5	TSH3_HUMAN	N	791	ENSP00000240587:D791N	ENSP00000240587:D791N	D	-	1	0	TSHZ3	36460168	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.461000	0.80834	2.501000	0.84356	0.655000	0.94253	GAC		0.597	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856	
SHD	56961	hgsc.bcm.edu	37	19	4284802	4284802	+	Missense_Mutation	SNP	A	A	C	rs114044357	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:4284802A>C	ENST00000543264.2	+	4	2080	c.617A>C	c.(616-618)gAg>gCg	p.E206A	SHD_ENST00000600475.1_3'UTR|SHD_ENST00000599689.1_Missense_Mutation_p.E206A	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	206										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGAGTGGGAGAGGACTCCA	0.627													A|||	12	0.00239617	0.0	0.0072	5008	,	,		16655	0.0		0.007	False		,,,				2504	0.0				p.E206A												.	.	0			c.A617C	19						.	A	ALA/GLU	4,4402	8.1+/-20.4	0,4,2199	49.0	53.0	52.0		617	4.4	1.0	19	dbSNP_132	52	60,8540	36.4+/-91.3	0,60,4240	yes	missense	SHD	NM_020209.3	107	0,64,6439	CC,CA,AA		0.6977,0.0908,0.4921	benign	206/341	4284802	64,12942	2203	4300	6503	4235802	SO:0001583	missense	56961	exon4			BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"""SH2 domain containing"""	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.617A>C	19.37:g.4284802A>C	ENSP00000446058:p.Glu206Ala	Somatic		Capture	SOLID	Phase_I	4235802	NM_020209	Q96NC2	Missense_Mutation	SNP	ENST00000543264.2	37	CCDS12125.1	9	0.004120879120879121	0	0.0	4	0.011049723756906077	0	0.0	5	0.006596306068601583	A	12.29	1.893426	0.33442	9.08E-4	0.006977	ENSG00000105251	ENST00000543264;ENST00000221852	T	0.28255	1.62	4.44	4.44	0.53790	.	0.330324	0.31427	N	0.007664	T	0.26085	0.0636	L	0.40543	1.245	0.32255	N	0.570941	D;B	0.55605	0.972;0.066	P;B	0.62382	0.901;0.028	T	0.23476	-1.0187	10	0.07644	T	0.81	-8.3094	6.5401	0.22375	0.8927:0.0:0.1073:0.0	.	113;206	Q9NPN8;Q96IW2	.;SHD_HUMAN	A	206;121	ENSP00000446058:E206A	ENSP00000221852:E121A	E	+	2	0	SHD	4235802	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	4.429000	0.59901	1.868000	0.54150	0.402000	0.26972	GAG		0.627	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1	NM_020209	
SLC7A9	11136	hgsc.bcm.edu	37	19	33351531	33351531	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:33351531C>A	ENST00000023064.4	-	7	921	c.730G>T	c.(730-732)Gaa>Taa	p.E244*	RN7SKP22_ENST00000365097.1_RNA|SLC7A9_ENST00000590341.1_Nonsense_Mutation_p.E244*|SLC7A9_ENST00000587772.1_Nonsense_Mutation_p.E244*	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	244			Missing (in CSNU). {ECO:0000269|PubMed:11157794}.		amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)	p.E244*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	TTTCTAAGTTCTTCTGTGATG	0.423																																					p.E244X	GBM(181;1335 2108 9644 44178 46689)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G730T	19	GRCh37	CD060667	SLC7A9	D		.						101.0	98.0	99.0					19																	33351531		2203	4300	6503	38043371	SO:0001587	stop_gained	11136	exon7			AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.730G>T	19.37:g.33351531C>A	ENSP00000023064:p.Glu244*	Somatic		Capture	SOLID	Phase_I	38043371	NM_014270	B2R9A6	Nonsense_Mutation	SNP	ENST00000023064.4	37	CCDS12425.1	.	.	.	.	.	.	.	.	.	.	C	36	5.938433	0.97122	.	.	ENSG00000021488	ENST00000023064	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7115	0.96098	0.0:1.0:0.0:0.0	.	.	.	.	X	244	.	ENSP00000023064:E244X	E	-	1	0	SLC7A9	38043371	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	7.774000	0.85478	2.675000	0.91044	0.462000	0.41574	GAA		0.423	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1		
HKR1	284459	hgsc.bcm.edu	37	19	37838097	37838097	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:37838097C>T	ENST00000324411.4	+	4	365	c.96C>T	c.(94-96)ttC>ttT	p.F32F	HKR1_ENST00000592168.1_5'UTR|HKR1_ENST00000591471.1_5'UTR|HKR1_ENST00000591417.1_5'UTR|HKR1_ENST00000586897.1_5'UTR|HKR1_ENST00000544914.1_Intron|HKR1_ENST00000392153.3_Silent_p.F13F|HKR1_ENST00000591259.1_Silent_p.F13F|HKR1_ENST00000591134.1_5'UTR|HKR1_ENST00000589392.1_Silent_p.F13F|HKR1_ENST00000541583.2_5'UTR	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	32					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)	p.F32F(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAAAGGCGTTCGTGGCATTCA	0.562																																					p.F32F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C96T	19						.						261.0	226.0	238.0					19																	37838097		2203	4300	6503	42529937	SO:0001819	synonymous_variant	284459	exon4			M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.96C>T	19.37:g.37838097C>T		Somatic		Capture	SOLID	Phase_I	42529937	NM_181786	A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Silent	SNP	ENST00000324411.4	37	CCDS12502.1																																																																																				0.562	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786	
RYR1	6261	hgsc.bcm.edu	37	19	39055628	39055628	+	Silent	SNP	C	C	T	rs118192128		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:39055628C>T	ENST00000359596.3	+	91	12654	c.12654C>T	c.(12652-12654)ttC>ttT	p.F4218F	RYR1_ENST00000360985.3_Silent_p.F4213F|RYR1_ENST00000355481.4_Silent_p.F4213F			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4218					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.F4218F(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)	AGTTCATCTTCGACGTGGTGA	0.632																																					p.F4218F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C12654T	19						.						28.0	22.0	24.0					19																	39055628		2201	4296	6497	43747468	SO:0001819	synonymous_variant	6261	exon91			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.12654C>T	19.37:g.39055628C>T		Somatic		Capture	SOLID	Phase_I	43747468	NM_000540	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																				0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
CHAF1A	10036	hgsc.bcm.edu	37	19	4430593	4430593	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:4430593C>A	ENST00000301280.5	+	11	2003	c.1902C>A	c.(1900-1902)ttC>ttA	p.F634L	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	634					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)	p.F634L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGATGGTTTCTTTGTGCCCC	0.488								Chromatin Structure																													p.F634L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1902A	19						.						165.0	130.0	142.0					19																	4430593		2203	4300	6503	4381593	SO:0001583	missense	10036	exon11			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.1902C>A	19.37:g.4430593C>A	ENSP00000301280:p.Phe634Leu	Somatic		Capture	SOLID	Phase_I	4381593	NM_005483	Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152104	0.57259	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.23552	1.9	4.25	-4.09	0.03951	.	.	.	.	.	T	0.52885	0.1762	M	0.92459	3.31	0.58432	D	0.999998	D	0.76494	0.999	D	0.71656	0.974	T	0.62840	-0.6769	9	0.87932	D	0	-22.2708	11.4894	0.50373	0.0:0.6064:0.0:0.3936	.	634	Q13111	CAF1A_HUMAN	L	634	ENSP00000301280:F634L	ENSP00000301280:F634L	F	+	3	2	CHAF1A	4381593	0.640000	0.27243	0.855000	0.33649	0.497000	0.33675	-0.237000	0.08990	-1.020000	0.03354	0.313000	0.20887	TTC		0.488	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483	
RYR1	6261	hgsc.bcm.edu	37	19	39068823	39068823	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:39068823C>T	ENST00000359596.3	+	99	14343	c.14343C>T	c.(14341-14343)ttC>ttT	p.F4781F	RYR1_ENST00000360985.3_Silent_p.F4776F|RYR1_ENST00000355481.4_Silent_p.F4776F			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4781					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.F4781F(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)	TCTGGAAGTTCGGGGTCATCT	0.607																																					p.F4781F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C14343T	19						.						54.0	50.0	51.0					19																	39068823		2203	4300	6503	43760663	SO:0001819	synonymous_variant	6261	exon99			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.14343C>T	19.37:g.39068823C>T		Somatic		Capture	SOLID	Phase_I	43760663	NM_000540	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																				0.607	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
SUPT5H	6829	hgsc.bcm.edu	37	19	39949469	39949469	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:39949469G>A	ENST00000599117.1	+	7	698	c.331G>A	c.(331-333)Gat>Aat	p.D111N	SUPT5H_ENST00000359191.6_Missense_Mutation_p.D107N|SUPT5H_ENST00000598725.1_Missense_Mutation_p.D111N|SUPT5H_ENST00000402194.2_Missense_Mutation_p.D107N|SUPT5H_ENST00000432763.2_Missense_Mutation_p.D111N			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	111					7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.D111N(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTCCAATATCGATAATGTTGT	0.577																																					p.D107N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G319A	19						.						88.0	69.0	76.0					19																	39949469		2203	4300	6503	44641309	SO:0001583	missense	6829	exon5			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.331G>A	19.37:g.39949469G>A	ENSP00000470252:p.Asp111Asn	Somatic		Capture	SOLID	Phase_I	44641309	NM_001130825	O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500444	0.85176	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.55	5.55	0.83447	Spt5 transcription elongation factor, N-terminal (1);	0.051207	0.85682	D	0.000000	T	0.61862	0.2381	L	0.50333	1.59	0.80722	D	1	D;P	0.57899	0.981;0.795	P;B	0.49502	0.613;0.272	T	0.60271	-0.7296	8	.	.	.	-20.2008	18.2681	0.90059	0.0:0.0:1.0:0.0	.	107;111	O00267-2;O00267	.;SPT5H_HUMAN	N	111;107;89;111	.	.	D	+	1	0	SUPT5H	44641309	1.000000	0.71417	0.996000	0.52242	0.733000	0.41908	9.600000	0.98282	2.620000	0.88729	0.643000	0.83706	GAT		0.577	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169	
PSMC4	5704	hgsc.bcm.edu	37	19	40478338	40478338	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:40478338G>T	ENST00000157812.2	+	3	396	c.198G>T	c.(196-198)aaG>aaT	p.K66N	PSMC4_ENST00000455878.2_Intron	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	66					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|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)|proteolysis (GO:0006508)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.K66N(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ATGAGCAAAAGAACCTGAAAA	0.517																																					p.K66N	Colon(105;1478 1543 4034 6132 38638)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G198T	19						.						75.0	77.0	76.0					19																	40478338		2203	4300	6503	45170178	SO:0001583	missense	5704	exon3			U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9551	protein-coding gene	gene with protein product	"""protease 26S subunit 6"", ""Tat-binding protein 7"", ""MB67 interacting protein"""	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.198G>T	19.37:g.40478338G>T	ENSP00000157812:p.Lys66Asn	Somatic		Capture	SOLID	Phase_I	45170178	NM_006503	Q96FV5|Q9UBM3|Q9UEX3	Missense_Mutation	SNP	ENST00000157812.2	37	CCDS12547.1	.	.	.	.	.	.	.	.	.	.	g	17.11	3.306202	0.60305	.	.	ENSG00000013275	ENST00000157812	D	0.94537	-3.45	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.89336	0.6686	N	0.21583	0.68	0.80722	D	1	P	0.46020	0.871	B	0.42653	0.394	D	0.89710	0.3911	10	0.87932	D	0	-4.2378	9.2219	0.37382	0.0991:0.0:0.9009:0.0	.	66	P43686	PRS6B_HUMAN	N	66	ENSP00000157812:K66N	ENSP00000157812:K66N	K	+	3	2	PSMC4	45170178	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.320000	0.72876	2.273000	0.75805	0.561000	0.74099	AAG		0.517	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	NM_006503	
AXL	558	hgsc.bcm.edu	37	19	41758758	41758758	+	Silent	SNP	T	T	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:41758758T>C	ENST00000301178.4	+	16	2002	c.1812T>C	c.(1810-1812)tgT>tgC	p.C604C	AXL_ENST00000593513.1_Silent_p.C336C|AXL_ENST00000359092.3_Silent_p.C595C	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	604	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.C595C(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CAGGTGTCTGTTTCCAGGGTT	0.587																																					p.C604C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1812C	19						.						77.0	80.0	79.0					19																	41758758		2203	4300	6503	46450598	SO:0001819	synonymous_variant	558	exon16			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1812T>C	19.37:g.41758758T>C		Somatic		Capture	SOLID	Phase_I	46450598	NM_021913	Q8N5L2|Q9UD27	Silent	SNP	ENST00000301178.4	37	CCDS12575.1																																																																																				0.587	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2		
GRIK5	2901	hgsc.bcm.edu	37	19	42526109	42526109	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:42526109G>A	ENST00000262895.3	-	13	1686	c.1687C>T	c.(1687-1689)Ctg>Ttg	p.L563L	GRIK5_ENST00000301218.4_Silent_p.L563L|GRIK5_ENST00000593562.1_Silent_p.L563L	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	563					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.L563L(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				CTGGCAGCCAGAAACAGGACG	0.627																																					p.L563L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1687T	19						.						73.0	70.0	71.0					19																	42526109		2193	4299	6492	47217949	SO:0001819	synonymous_variant	2901	exon13				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1687C>T	19.37:g.42526109G>A		Somatic		Capture	SOLID	Phase_I	47217949	NM_002088	Q8WWG8	Silent	SNP	ENST00000262895.3	37	CCDS12595.1																																																																																				0.627	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1		
ZNF112	7771	hgsc.bcm.edu	37	19	44833062	44833062	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:44833062C>T	ENST00000337401.4	-	5	1354	c.1266G>A	c.(1264-1266)aaG>aaA	p.K422K	ZNF112_ENST00000354340.4_Silent_p.K416K|ZNF112_ENST00000536500.1_Silent_p.K439K	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	422					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.K416K(1)									AAATGAAACTCTTTCCATACT	0.358																																					p.K416K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1248A	19						.						87.0	86.0	86.0					19																	44833062		2202	4300	6502	49524902	SO:0001819	synonymous_variant	7771	exon4			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.1266G>A	19.37:g.44833062C>T		Somatic		Capture	SOLID	Phase_I	49524902	NM_013380	A4FU53|Q9HCA7	Silent	SNP	ENST00000337401.4	37	CCDS54276.1																																																																																				0.358	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380	
CKM	1158	hgsc.bcm.edu	37	19	45818754	45818754	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:45818754C>T	ENST00000221476.3	-	4	624	c.450G>A	c.(448-450)gaG>gaA	p.E150E		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	150	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)	p.E150E(1)		cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	CCGCCCGGCGCTCGCCACGGG	0.677																																					p.E150E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G450A	19						.						35.0	34.0	34.0					19																	45818754		2203	4300	6503	50510594	SO:0001819	synonymous_variant	1158	exon4			M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.450G>A	19.37:g.45818754C>T		Somatic		Capture	SOLID	Phase_I	50510594	NM_001824	Q96QL9	Silent	SNP	ENST00000221476.3	37	CCDS12659.1																																																																																				0.677	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1		
CKM	1158	hgsc.bcm.edu	37	19	45818835	45818835	+	Silent	SNP	A	A	G	rs1133190	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:45818835A>G	ENST00000221476.3	-	4	543	c.369T>C	c.(367-369)ccT>ccC	p.P123P		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	123					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)	p.P123P(1)		cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GCACGTAGTTAGGGTCCAGGT	0.682													G|||	2039	0.407149	0.3011	0.3372	5008	,	,		15644	0.2381		0.6342	False		,,,				2504	0.5409				p.P123P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T369C	19						.	G		1562,2844	658.0+/-400.3	276,1010,917	38.0	38.0	38.0		369	2.6	1.0	19	dbSNP_86	38	5416,3184	475.0+/-369.0	1738,1940,622	no	coding-synonymous	CKM	NM_001824.3		2014,2950,1539	GG,GA,AA		37.0233,35.4517,46.3478		123/382	45818835	6978,6028	2203	4300	6503	50510675	SO:0001819	synonymous_variant	1158	exon4			M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.369T>C	19.37:g.45818835A>G		Somatic		Capture	SOLID	Phase_I	50510675	NM_001824	Q96QL9	Silent	SNP	ENST00000221476.3	37	CCDS12659.1																																																																																				0.682	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1		
CCDC8	83987	hgsc.bcm.edu	37	19	46914890	46914890	+	Missense_Mutation	SNP	G	G	A	rs145734886	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:46914890G>A	ENST00000307522.3	-	1	1951	c.1178C>T	c.(1177-1179)gCg>gTg	p.A393V		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	393					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.A393V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TGGGGCCTCCGCCCTCTGATT	0.582																																					p.A393V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1178T	19						.	A	VAL/ALA	6,4400	11.4+/-27.6	0,6,2197	118.0	112.0	114.0		1178	-5.3	0.0	19	dbSNP_134	114	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CCDC8	NM_032040.3	64	0,8,6495	AA,AG,GG		0.0233,0.1362,0.0615	benign	393/539	46914890	8,12998	2203	4300	6503	51606730	SO:0001583	missense	83987	exon1			BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1178C>T	19.37:g.46914890G>A	ENSP00000303158:p.Ala393Val	Somatic		Capture	SOLID	Phase_I	51606730	NM_032040	Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	CCDS12685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	5.694|5.694	0.312572|0.312572	0.10789|0.10789	0.001362|0.001362	2.33E-4|2.33E-4	ENSG00000169515|ENSG00000169515	ENST00000307522|ENST00000540252	T|.	0.12984|.	2.63|.	3.03|3.03	-5.28|-5.28	0.02755|0.02755	.|.	0.908223|.	0.09055|.	N|.	0.855126|.	T|T	0.37265|0.37265	0.0997|0.0997	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	B|.	0.24132|.	0.098|.	B|.	0.12837|.	0.008|.	T|T	0.48592|0.48592	-0.9022|-0.9022	10|6	0.33141|0.72032	T|D	0.24|0.01	.|.	4.5536|4.5536	0.12126|0.12126	0.534:0.0:0.3035:0.1624|0.534:0.0:0.3035:0.1624	.|.	393|.	Q9H0W5|.	CCDC8_HUMAN|.	V|W	393|240	ENSP00000303158:A393V|.	ENSP00000303158:A393V|ENSP00000441180:R240W	A|R	-|-	2|1	0|2	CCDC8|CCDC8	51606730|51606730	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.007000|0.007000	0.05969|0.05969	-0.988000|-0.988000	0.03739|0.03739	-0.988000|-0.988000	0.03489|0.03489	-3.022000|-3.022000	0.00074|0.00074	GCG|CGG		0.582	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040	
SLC8A2	6543	hgsc.bcm.edu	37	19	47941159	47941159	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:47941159G>T	ENST00000236877.6	-	7	2352	c.1957C>A	c.(1957-1959)Ctt>Att	p.L653I	SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_Missense_Mutation_p.L409I|SLC8A2_ENST00000539381.1_Missense_Mutation_p.L116I	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	653					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)	p.L653I(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TTCTCCCCAAGAACTGGCTTG	0.567																																					p.L653I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1957A	19						.						122.0	118.0	120.0					19																	47941159		2203	4300	6503	52632971	SO:0001583	missense	6543	exon7			AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.1957C>A	19.37:g.47941159G>T	ENSP00000236877:p.Leu653Ile	Somatic		Capture	SOLID	Phase_I	52632971	NM_015063	B4DYQ9	Missense_Mutation	SNP	ENST00000236877.6	37	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142418	0.57044	.	.	ENSG00000118160	ENST00000391903;ENST00000236877;ENST00000539381;ENST00000542837	T;T;T	0.29397	1.57;1.57;1.57	2.54	1.49	0.22878	.	0.000000	0.53938	U	0.000046	T	0.51109	0.1655	M	0.83603	2.65	0.48696	D	0.999699	B;D	0.54772	0.237;0.968	B;D	0.74674	0.123;0.984	T	0.50355	-0.8838	10	0.72032	D	0.01	.	6.2225	0.20689	0.2589:0.0:0.7411:0.0	.	481;653	E9PGS7;Q9UPR5	.;NAC2_HUMAN	I	481;653;116;409	ENSP00000236877:L653I;ENSP00000440588:L116I;ENSP00000437536:L409I	ENSP00000236877:L653I	L	-	1	0	SLC8A2	52632971	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	5.507000	0.66999	0.642000	0.30620	0.456000	0.33151	CTT		0.567	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1		
PLA2G4C	8605	hgsc.bcm.edu	37	19	48603012	48603012	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:48603012C>A	ENST00000599921.1	-	5	720	c.363G>T	c.(361-363)caG>caT	p.Q121H	PLA2G4C_ENST00000599111.1_Missense_Mutation_p.Q131H|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.Q121H|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.Q121H			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	121	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)	p.Q121H(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		GGATGGTTTTCTGTAGGCTCT	0.483																																					p.Q121H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G363T	19						.						201.0	182.0	189.0					19																	48603012		2203	4300	6503	53294824	SO:0001583	missense	8605	exon5			AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.363G>T	19.37:g.48603012C>A	ENSP00000469473:p.Gln121His	Somatic		Capture	SOLID	Phase_I	53294824	NM_003706	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037584	0.35989	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.12147	2.71;2.71	3.17	0.724	0.18236	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	1.080100	0.07325	U	0.878232	T	0.18215	0.0437	N	0.25890	0.77	0.09310	N	1	D;P;P	0.58268	0.982;0.932;0.932	P;P;P	0.57548	0.823;0.587;0.713	T	0.38866	-0.9641	10	0.26408	T	0.33	-0.0537	9.4259	0.38578	0.0:0.5808:0.4192:0.0	.	131;121;121	B4DI40;Q8WWC5;Q9UP65	.;.;PA24C_HUMAN	H	121	ENSP00000346228:Q121H;ENSP00000400036:Q121H	ENSP00000346228:Q121H	Q	-	3	2	PLA2G4C	53294824	0.000000	0.05858	0.001000	0.08648	0.207000	0.24258	-0.129000	0.10515	-0.016000	0.14127	0.411000	0.27672	CAG		0.483	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1		
HRC	3270	hgsc.bcm.edu	37	19	49657000	49657000	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:49657000C>T	ENST00000252825.4	-	1	1681	c.1495G>A	c.(1495-1497)Gat>Aat	p.D499N	HRC_ENST00000595625.1_Missense_Mutation_p.D499N	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	499					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)	p.D499N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GAACTTTCATCGTCTTCCTCA	0.547																																					p.D499N	Melanoma(37;75 1097 24567 25669 30645)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1495A	19						.						125.0	107.0	113.0					19																	49657000		2203	4300	6503	54348812	SO:0001583	missense	3270	exon1				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1495G>A	19.37:g.49657000C>T	ENSP00000252825:p.Asp499Asn	Somatic		Capture	SOLID	Phase_I	54348812	NM_002152	Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	C	4.482	0.089397	0.08632	.	.	ENSG00000130528	ENST00000252825;ENST00000391863	T	0.50277	0.75	2.63	1.58	0.23477	.	.	.	.	.	T	0.22475	0.0542	L	0.27053	0.805	0.26811	N	0.968995	P	0.39181	0.663	B	0.24155	0.051	T	0.09530	-1.0670	9	0.12430	T	0.62	-2.3506	5.5111	0.16880	0.0:0.8396:0.0:0.1604	.	499	P23327	SRCH_HUMAN	N	499;198	ENSP00000252825:D499N	ENSP00000252825:D499N	D	-	1	0	HRC	54348812	0.000000	0.05858	0.440000	0.26846	0.094000	0.18550	0.160000	0.16462	0.683000	0.31428	0.462000	0.41574	GAT		0.547	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152	
KLK2	3817	hgsc.bcm.edu	37	19	51378099	51378099	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:51378099C>A	ENST00000325321.3	+	2	394	c.169C>A	c.(169-171)Ccc>Acc	p.P57T	AC037199.1_ENST00000594218.1_5'Flank|KLK2_ENST00000597509.1_3'UTR|KLK2_ENST00000358049.4_Missense_Mutation_p.P57T|KLK2_ENST00000391810.2_Intron			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	57	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)	p.P57T(2)|p.P57S(1)	KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		CCTGGTGCACCCCCAGTGGGT	0.587			T	ETV4	prostate																																p.P57T			Dom	yes		19	19q13.41	3817	kallikrein-related peptidase 2		E	KLK2,skin,NS,Substitution - Missense,0	.	3	Substitution - Missense(3)	large_intestine(2)|skin(1)	c.C169A	19						.						69.0	57.0	61.0					19																	51378099		2203	4300	6503	56069911	SO:0001583	missense	3817	exon2			M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"""Kallikreins"""	6363	protein-coding gene	gene with protein product		147960	"""kallikrein 2, prostatic"""			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.169C>A	19.37:g.51378099C>A	ENSP00000313581:p.Pro57Thr	Somatic		Capture	SOLID	Phase_I	56069911	NM_005551	B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Missense_Mutation	SNP	ENST00000325321.3	37	CCDS12808.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416849	0.42918	.	.	ENSG00000167751	ENST00000325321;ENST00000358049	T;T	0.07908	3.15;3.15	2.62	1.5	0.22942	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.20455	0.0492	L	0.58925	1.835	0.09310	N	0.999996	D;D	0.69078	0.997;0.995	D;P	0.66351	0.943;0.878	T	0.05419	-1.0886	9	0.62326	D	0.03	.	9.3247	0.37986	0.0:0.7756:0.2244:0.0	.	57;57	P20151-2;P20151	.;KLK2_HUMAN	T	57	ENSP00000313581:P57T;ENSP00000350748:P57T	ENSP00000313581:P57T	P	+	1	0	KLK2	56069911	0.043000	0.20138	0.006000	0.13384	0.957000	0.61999	2.250000	0.43178	0.352000	0.24053	0.442000	0.29010	CCC		0.587	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464438.3	NM_005551.3	
KLK10	5655	hgsc.bcm.edu	37	19	51519364	51519364	+	Silent	SNP	T	T	G	rs2075688	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:51519364T>G	ENST00000309958.3	-	4	536	c.318A>C	c.(316-318)ggA>ggC	p.G106G	KLK10_ENST00000358789.3_Silent_p.G106G|CTC-518B2.12_ENST00000596286.1_RNA|KLK10_ENST00000391805.1_Silent_p.G106G	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	106	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GGAGCTGCTCTCCCTGAAGAA	0.597													G|||	3451	0.689097	0.9781	0.6686	5008	,	,		16143	0.6468		0.6133	False		,,,				2504	0.4346				p.G106G												KLK10,lung,NS,Substitution - Missense,-2	.	0			c.A318C	19						.	G	,,	4034,364		1851,332,16	41.0	34.0	37.0		318,318,318	-9.3	0.3	19	dbSNP_96	37	5321,3271		1691,1939,666	no	coding-synonymous,coding-synonymous,coding-synonymous	KLK10	NM_001077500.1,NM_002776.4,NM_145888.2	,,	3542,2271,682	GG,GT,TT		38.0703,8.2765,27.9831	,,	106/277,106/277,106/277	51519364	9355,3635	2199	4296	6495	56211176	SO:0001819	synonymous_variant	5655	exon4			AF024605	CCDS12817.1	19q13	2011-03-07	2006-10-27			ENSG00000129451		"""Kallikreins"""	6358	protein-coding gene	gene with protein product		602673	"""kallikrein 10"""	PRSSL1		8764136, 9533035, 16800724, 16800723, 10675891	Standard	NM_145888		Approved	NES1	uc002pva.3	O43240		ENST00000309958.3:c.318A>C	19.37:g.51519364T>G		Somatic		Capture	SOLID	Phase_I	56211176	NM_001077500	A6NC12|Q53YL3|Q99920|Q9GZW9	Silent	SNP	ENST00000309958.3	37	CCDS12817.1																																																																																				0.597	KLK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464337.2	NM_002776	
FPR2	2358	hgsc.bcm.edu	37	19	52272375	52272375	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:52272375T>G	ENST00000598776.1	+	2	1236	c.464T>G	c.(463-465)gTc>gGc	p.V155G	FPR2_ENST00000340023.6_Missense_Mutation_p.V155G|FPR2_ENST00000598953.1_Missense_Mutation_p.V155G	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	155					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.V155G(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTTGCTCTAGTCCTTACCTTG	0.512																																					p.V155G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T464G	19						.						140.0	128.0	132.0					19																	52272375		2203	4300	6503	56964187	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.464T>G	19.37:g.52272375T>G	ENSP00000468897:p.Val155Gly	Somatic		Capture	SOLID	Phase_I	56964187	NM_001462	A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	CCDS12840.1	.	.	.	.	.	.	.	.	.	.	.	15.12	2.740335	0.49045	.	.	ENSG00000171049	ENST00000340023	T	0.39592	1.07	3.62	1.51	0.23008	GPCR, rhodopsin-like superfamily (1);	0.914808	0.09169	U	0.839233	T	0.43077	0.1231	L	0.47190	1.495	0.09310	N	0.999994	P	0.35575	0.51	P	0.44647	0.456	T	0.45571	-0.9252	10	0.87932	D	0	.	6.3401	0.21319	0.0:0.2333:0.0:0.7667	.	155	P25090	FPR2_HUMAN	G	155	ENSP00000340191:V155G	ENSP00000340191:V155G	V	+	2	0	FPR2	56964187	0.000000	0.05858	0.002000	0.10522	0.214000	0.24535	0.774000	0.26675	0.583000	0.29574	0.402000	0.26972	GTC		0.512	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738	
FPR2	2358	hgsc.bcm.edu	37	19	52272946	52272946	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:52272946G>T	ENST00000598776.1	+	2	1807	c.1035G>T	c.(1033-1035)gaG>gaT	p.E345D	FPR2_ENST00000340023.6_Missense_Mutation_p.E345D|FPR2_ENST00000598953.1_Missense_Mutation_p.E345D	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	345					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.E345D(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTCCTGCAGAGACTGAGTTAC	0.522																																					p.E345D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1035T	19						.						53.0	50.0	51.0					19																	52272946		2203	4300	6503	56964758	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.1035G>T	19.37:g.52272946G>T	ENSP00000468897:p.Glu345Asp	Somatic		Capture	SOLID	Phase_I	56964758	NM_001462	A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	CCDS12840.1	.	.	.	.	.	.	.	.	.	.	.	8.920	0.960733	0.18583	.	.	ENSG00000171049	ENST00000340023	T	0.68181	-0.31	3.96	-2.71	0.05986	.	0.947357	0.08785	N	0.894123	T	0.41419	0.1158	N	0.17764	0.52	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.18461	-1.0336	10	0.20519	T	0.43	.	2.2844	0.04123	0.1214:0.1365:0.4491:0.293	.	345	P25090	FPR2_HUMAN	D	345	ENSP00000340191:E345D	ENSP00000340191:E345D	E	+	3	2	FPR2	56964758	0.000000	0.05858	0.003000	0.11579	0.097000	0.18754	-0.294000	0.08309	-0.092000	0.12417	0.484000	0.47621	GAG		0.522	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738	
ZNF577	84765	hgsc.bcm.edu	37	19	52376830	52376830	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:52376830G>A	ENST00000301399.5	-	7	778	c.413C>T	c.(412-414)cCc>cTc	p.P138L	ZNF577_ENST00000420592.1_Intron|ZNF577_ENST00000451628.2_Intron|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Intron	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	138					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.P131L(1)		breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AGGGCTGCTGGGTTTAACACA	0.443																																					p.P138L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C413T	19						.						125.0	122.0	123.0					19																	52376830		2203	4300	6503	57068642	SO:0001583	missense	84765	exon7			AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.413C>T	19.37:g.52376830G>A	ENSP00000301399:p.Pro138Leu	Somatic		Capture	SOLID	Phase_I	57068642	NM_032679	A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	ENST00000301399.5	37	CCDS12842.2	.	.	.	.	.	.	.	.	.	.	.	0.015	-1.556954	0.00910	.	.	ENSG00000161551	ENST00000301399;ENST00000458390	T;T	0.06294	3.32;3.32	2.16	2.16	0.27623	.	.	.	.	.	T	0.03305	0.0096	N	0.04880	-0.145	0.09310	N	1	B	0.20671	0.047	B	0.14578	0.011	T	0.39099	-0.9630	9	0.42905	T	0.14	.	7.8707	0.29565	0.0:0.4417:0.5583:0.0	.	138	Q9BSK1	ZN577_HUMAN	L	138	ENSP00000301399:P138L;ENSP00000404509:P138L	ENSP00000301399:P138L	P	-	2	0	ZNF577	57068642	0.004000	0.15560	0.007000	0.13788	0.024000	0.10985	1.362000	0.34148	1.495000	0.48549	0.467000	0.42956	CCC		0.443	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679	
ZNF415	55786	hgsc.bcm.edu	37	19	53612952	53612952	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:53612952C>A	ENST00000500065.4	-	4	679	c.346G>T	c.(346-348)Gaa>Taa	p.E116*	ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000448501.1_Nonsense_Mutation_p.E164*|ZNF415_ENST00000455735.2_Nonsense_Mutation_p.E164*|ZNF415_ENST00000243643.4_Nonsense_Mutation_p.E116*|ZNF415_ENST00000440291.1_Nonsense_Mutation_p.E103*|ZNF415_ENST00000421033.1_Nonsense_Mutation_p.E128*|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000601215.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E116*(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		GTAAGATTTTCTTTTGGGGCC	0.393																																					p.E116X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G346T	19						.						118.0	108.0	111.0					19																	53612952		2203	4300	6503	58304764	SO:0001587	stop_gained	55786	exon4			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.346G>T	19.37:g.53612952C>A	ENSP00000439435:p.Glu116*	Somatic		Capture	SOLID	Phase_I	58304764	NM_001164309	F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Nonsense_Mutation	SNP	ENST00000500065.4	37	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515673	0.64634	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	.	.	.	2.74	-1.74	0.08056	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.2371	0.06768	0.0:0.2657:0.2204:0.5139	.	.	.	.	X	116;116;164;128;164;103	.	ENSP00000243643:E116X	E	-	1	0	ZNF415	58304764	0.000000	0.05858	0.000000	0.03702	0.113000	0.19764	-4.773000	0.00187	-0.528000	0.06366	0.313000	0.20887	GAA		0.393	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355	
ZNF667	63934	hgsc.bcm.edu	37	19	56972063	56972063	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:56972063G>A	ENST00000504904.3	-	5	874	c.155C>T	c.(154-156)tCg>tTg	p.S52L	ZNF667_ENST00000342634.3_Missense_Mutation_p.S145L|ZNF667_ENST00000591790.1_Missense_Mutation_p.S52L|ZNF667_ENST00000292069.6_Missense_Mutation_p.S52L			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	52	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.S52L(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)		CTTACCAAGCGAGACCAGGTT	0.502																																					p.S52L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C155T	19						.						108.0	96.0	100.0					19																	56972063		2203	4300	6503	61663875	SO:0001583	missense	63934	exon3				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.155C>T	19.37:g.56972063G>A	ENSP00000439402:p.Ser52Leu	Somatic		Capture	SOLID	Phase_I	61663875	NM_022103	B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738870	0.49045	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069	T;T;T	0.03004	4.08;4.08;4.08	4.28	2.14	0.27477	Krueppel-associated box (4);	0.000000	0.35013	N	0.003509	T	0.06325	0.0163	M	0.90369	3.11	0.09310	N	1	P	0.38395	0.629	B	0.27500	0.08	T	0.27262	-1.0079	10	0.72032	D	0.01	-7.3263	6.7109	0.23276	0.2131:0.0:0.7869:0.0	.	52	Q5HYK9	ZN667_HUMAN	L	145;52;52	ENSP00000344699:S145L;ENSP00000439402:S52L;ENSP00000292069:S52L	ENSP00000292069:S52L	S	-	2	0	ZNF667	61663875	0.747000	0.28283	0.007000	0.13788	0.003000	0.03518	2.138000	0.42140	0.738000	0.32606	-0.140000	0.14226	TCG		0.502	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103	
ZFP28	140612	hgsc.bcm.edu	37	19	57065728	57065728	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:57065728G>T	ENST00000301318.3	+	8	1645	c.1574G>T	c.(1573-1575)aGa>aTa	p.R525I	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	525					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.R525I(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		CAACACAGGAGAATTCATACT	0.428																																					p.R525I	Ovarian(124;554 1662 19430 21141 52494)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1574T	19						.						64.0	57.0	60.0					19																	57065728		2203	4300	6503	61757540	SO:0001583	missense	140612	exon8				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.1574G>T	19.37:g.57065728G>T	ENSP00000301318:p.Arg525Ile	Somatic		Capture	SOLID	Phase_I	61757540	NM_020828	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307618	0.60305	.	.	ENSG00000196867	ENST00000301318	T	0.24908	1.83	4.3	3.27	0.37495	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49916	D	0.000140	T	0.45796	0.1360	M	0.73430	2.235	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.43540	-0.9385	10	0.72032	D	0.01	.	8.3256	0.32156	0.1688:0.0:0.8312:0.0	.	525	Q8NHY6	ZFP28_HUMAN	I	525	ENSP00000301318:R525I	ENSP00000301318:R525I	R	+	2	0	ZFP28	61757540	0.001000	0.12720	0.999000	0.59377	0.995000	0.86356	1.073000	0.30691	2.390000	0.81377	0.650000	0.86243	AGA		0.428	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828	
PEG3	5178	hgsc.bcm.edu	37	19	57327044	57327044	+	Missense_Mutation	SNP	G	G	T	rs200041700		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:57327044G>T	ENST00000326441.9	-	10	3129	c.2766C>A	c.(2764-2766)ttC>ttA	p.F922L	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.F922L|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.F798L|PEG3_ENST00000593695.1_Missense_Mutation_p.F796L|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	922					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.F922L(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGGGAACAGAGAATTCGCCAT	0.448																																					p.F798L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2394A	19						.						125.0	123.0	124.0					19																	57327044		2203	4300	6503	62018856	SO:0001583	missense	5178	exon9			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2766C>A	19.37:g.57327044G>T	ENSP00000326581:p.Phe922Leu	Somatic		Capture	SOLID	Phase_I	62018856	NM_001146187	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062059	0.36373	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02682	4.2;4.2	3.88	-7.77	0.01227	.	0.692000	0.12774	N	0.440285	T	0.02083	0.0065	L	0.59436	1.845	.	.	.	B;B;B	0.12630	0.001;0.006;0.001	B;B;B	0.06405	0.001;0.002;0.002	T	0.48198	-0.9056	9	0.13108	T	0.6	-0.2418	1.2538	0.01988	0.4194:0.1597:0.2903:0.1307	.	798;922;857	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	L	922	ENSP00000326581:F922L;ENSP00000403051:F922L	ENSP00000326581:F922L	F	-	3	2	ZIM2	62018856	0.000000	0.05858	0.000000	0.03702	0.954000	0.61252	-1.213000	0.02991	-2.964000	0.00289	-0.793000	0.03317	TTC		0.448	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
ZNF264	9422	hgsc.bcm.edu	37	19	57722914	57722914	+	Missense_Mutation	SNP	C	C	A	rs568225979		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:57722914C>A	ENST00000263095.6	+	4	863	c.449C>A	c.(448-450)tCt>tAt	p.S150Y	ZNF264_ENST00000536056.1_Missense_Mutation_p.S150Y	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	150					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.S150Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CAGGAGAAGTCTCCTGGGAAG	0.517																																					p.S150Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C449A	19						.						93.0	89.0	90.0					19																	57722914		2203	4300	6503	62414726	SO:0001583	missense	9422	exon4			AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.449C>A	19.37:g.57722914C>A	ENSP00000263095:p.Ser150Tyr	Somatic		Capture	SOLID	Phase_I	62414726	NM_003417	A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	37	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.093033	0.00364	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.22743	1.94;1.94	2.65	0.124	0.14714	.	.	.	.	.	T	0.07908	0.0198	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.38585	-0.9654	9	0.02654	T	1	.	2.7498	0.05277	0.1953:0.2436:0.0:0.5612	.	150	O43296	ZN264_HUMAN	Y	150	ENSP00000263095:S150Y;ENSP00000440376:S150Y	ENSP00000263095:S150Y	S	+	2	0	ZNF264	62414726	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.117000	0.03283	0.004000	0.14682	-0.474000	0.04947	TCT		0.517	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1		
ZNF543	125919	hgsc.bcm.edu	37	19	57840299	57840299	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:57840299G>A	ENST00000321545.4	+	4	1814	c.1469G>A	c.(1468-1470)cGc>cAc	p.R490H		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	490					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.R490H(1)		breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GCCTTCAACCGCAGCTCACAC	0.517																																					p.R490H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1469A	19						.						95.0	87.0	90.0					19																	57840299		2203	4300	6503	62532111	SO:0001583	missense	125919	exon4			AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.1469G>A	19.37:g.57840299G>A	ENSP00000322545:p.Arg490His	Somatic		Capture	SOLID	Phase_I	62532111	NM_213598	Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	G	4.669	0.124322	0.08931	.	.	ENSG00000178229	ENST00000321545	T	0.15718	2.4	3.0	3.0	0.34707	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13884	0.0336	L	0.38531	1.155	0.09310	N	1	D	0.58620	0.983	B	0.41946	0.371	T	0.12941	-1.0528	9	0.17832	T	0.49	.	13.1928	0.59722	0.0:0.0:1.0:0.0	.	490	Q08ER8	ZN543_HUMAN	H	490	ENSP00000322545:R490H	ENSP00000322545:R490H	R	+	2	0	ZNF543	62532111	0.000000	0.05858	0.825000	0.32803	0.010000	0.07245	-0.289000	0.08365	1.654000	0.50703	0.561000	0.74099	CGC		0.517	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865	
ALKBH7	84266	hgsc.bcm.edu	37	19	6374890	6374890	+	Missense_Mutation	SNP	G	G	A	rs7540	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:6374890G>A	ENST00000245812.3	+	4	960	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	ALKBH7_ENST00000596657.1_Missense_Mutation_p.R49Q|ALKBH7_ENST00000599849.1_Missense_Mutation_p.R130Q	NM_032306.3	NP_115682.1	Q9BT30	ALKB7_HUMAN	alkB, alkylation repair homolog 7 (E. coli)	191			R -> Q (in dbSNP:rs7540).		cellular response to DNA damage stimulus (GO:0006974)|fatty acid metabolic process (GO:0006631)|regulation of lipid storage (GO:0010883)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)	mitochondrial matrix (GO:0005759)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GGGGAACGCCGGATTCCCCGG	0.647													G|||	136	0.0271565	0.0038	0.0274	5008	,	,		15582	0.001		0.0885	False		,,,				2504	0.0225				p.R191Q												.	.	0			c.G572A	19						.	G	GLN/ARG	82,4324	72.5+/-110.5	1,80,2122	61.0	62.0	62.0		572	3.0	0.0	19	dbSNP_52	62	780,7820	184.6+/-232.5	35,710,3555	yes	missense	ALKBH7	NM_032306.3	43	36,790,5677	AA,AG,GG		9.0698,1.8611,6.6277	possibly-damaging	191/222	6374890	862,12144	2203	4300	6503	6325890	SO:0001583	missense	84266	exon4			AY427650	CCDS12163.1	19p13.3	2008-02-05	2006-02-09	2006-02-09		ENSG00000125652		"""Alkylation repair homologs"""	21306	protein-coding gene	gene with protein product		613305	"""spermatogenesis associated 11"""	SPATA11		12477932	Standard	NM_032306		Approved	MGC10974	uc002meo.2	Q9BT30		ENST00000245812.3:c.572G>A	19.37:g.6374890G>A	ENSP00000245812:p.Arg191Gln	Somatic		Capture	SOLID	Phase_I	6325890	NM_032306	B2R4U9|Q53FF3	Missense_Mutation	SNP	ENST00000245812.3	37	CCDS12163.1	82	0.037545787545787544	6	0.012195121951219513	12	0.03314917127071823	1	0.0017482517482517483	63	0.08311345646437995	G	11.34	1.608980	0.28623	0.018611	0.090698	ENSG00000125652	ENST00000245812	T	0.45668	0.89	5.15	3.03	0.35002	.	0.244180	0.39210	N	0.001437	T	0.00998	0.0033	L	0.46157	1.445	0.33102	P	0.46068699999999996	B	0.30281	0.275	B	0.21151	0.033	T	0.12528	-1.0544	9	0.11794	T	0.64	-18.278	7.4476	0.27219	0.3331:0.0:0.6669:0.0	rs7540;rs3203434;rs58564048;rs7540	191	Q9BT30	ALKB7_HUMAN	Q	191	ENSP00000245812:R191Q	ENSP00000245812:R191Q	R	+	2	0	ALKBH7	6325890	0.964000	0.33143	0.021000	0.16686	0.871000	0.50021	0.738000	0.26158	0.695000	0.31675	-0.463000	0.05309	CGG		0.647	ALKBH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453036.1	NM_032306	
VAV1	7409	hgsc.bcm.edu	37	19	6828149	6828149	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:6828149G>T	ENST00000602142.1	+	10	1072	c.990G>T	c.(988-990)atG>atT	p.M330I	VAV1_ENST00000596764.1_Missense_Mutation_p.M298I|VAV1_ENST00000539284.1_Missense_Mutation_p.M233I|VAV1_ENST00000304076.2_Missense_Mutation_p.M330I|VAV1_ENST00000599806.1_Missense_Mutation_p.M275I	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	330	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M330I(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TGGTGCCTATGCAGCGAGTTC	0.547																																					p.M330I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G990T	19						.						87.0	77.0	80.0					19																	6828149		2203	4300	6503	6779149	SO:0001583	missense	7409	exon10				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.990G>T	19.37:g.6828149G>T	ENSP00000472929:p.Met330Ile	Somatic		Capture	SOLID	Phase_I	6779149	NM_005428	B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890198	0.33348	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.60424	0.19;0.19	4.5	4.5	0.54988	Guanine-nucleotide dissociation stimulator, CDC24, conserved site (1);Dbl homology (DH) domain (5);	0.056120	0.64402	D	0.000001	T	0.61426	0.2346	L	0.42744	1.35	0.58432	D	0.999999	B;B;B;B	0.27140	0.001;0.014;0.107;0.169	B;B;B;B	0.43103	0.005;0.021;0.408;0.19	T	0.65809	-0.6078	10	0.72032	D	0.01	.	14.7102	0.69225	0.0:0.0:1.0:0.0	.	233;330;275;330	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	I	330;233	ENSP00000302269:M330I;ENSP00000443242:M233I	ENSP00000302269:M330I	M	+	3	0	VAV1	6779149	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	4.947000	0.63583	2.076000	0.62316	0.462000	0.41574	ATG		0.547	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1		
VAV1	7409	hgsc.bcm.edu	37	19	6829926	6829926	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:6829926G>T	ENST00000602142.1	+	14	1477	c.1395G>T	c.(1393-1395)aaG>aaT	p.K465N	VAV1_ENST00000596764.1_Missense_Mutation_p.K433N|VAV1_ENST00000539284.1_Missense_Mutation_p.K368N|VAV1_ENST00000304076.2_Missense_Mutation_p.K465N|VAV1_ENST00000599806.1_Missense_Mutation_p.K410N	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	465	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K465N(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GAGACAACAAGAAGGTGGGGC	0.547																																					p.K465N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1395T	19						.						106.0	94.0	98.0					19																	6829926		2203	4300	6503	6780926	SO:0001583	missense	7409	exon14				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1395G>T	19.37:g.6829926G>T	ENSP00000472929:p.Lys465Asn	Somatic		Capture	SOLID	Phase_I	6780926	NM_005428	B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455901	0.43634	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.76186	-1.0;-1.0	4.92	0.273	0.15650	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.81069	0.4746	M	0.74881	2.28	0.53688	D	0.999976	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.85130	0.997;0.996;0.979;0.979	T	0.75608	-0.3259	10	0.27785	T	0.31	.	7.8529	0.29466	0.4376:0.0:0.5624:0.0	.	368;465;410;465	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	N	465;368	ENSP00000302269:K465N;ENSP00000443242:K368N	ENSP00000302269:K465N	K	+	3	2	VAV1	6780926	1.000000	0.71417	0.998000	0.56505	0.246000	0.25737	1.870000	0.39529	-0.015000	0.14150	-0.150000	0.13652	AAG		0.547	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1		
ZNF317	57693	hgsc.bcm.edu	37	19	9268008	9268008	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:9268008C>A	ENST00000247956.6	+	4	532	c.227C>A	c.(226-228)tCt>tAt	p.S76Y	ZNF317_ENST00000360385.3_Missense_Mutation_p.S76Y	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	76	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S76Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						TTGCTGGATTCTTCTCAGAGA	0.488																																					p.S76Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C227A	19						.						96.0	90.0	92.0					19																	9268008		2203	4300	6503	9129008	SO:0001583	missense	57693	exon4			AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.227C>A	19.37:g.9268008C>A	ENSP00000247956:p.Ser76Tyr	Somatic		Capture	SOLID	Phase_I	9129008	NM_020933	Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	ENST00000247956.6	37	CCDS12210.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869720	0.51588	.	.	ENSG00000130803	ENST00000247956;ENST00000360385;ENST00000419608	T;T	0.01918	4.56;4.56	3.84	3.84	0.44239	Krueppel-associated box (4);	0.000000	0.32578	N	0.005908	T	0.08492	0.0211	L	0.53671	1.685	0.34163	D	0.668915	P;D	0.69078	0.514;0.997	B;D	0.81914	0.264;0.995	T	0.05289	-1.0894	10	0.87932	D	0	-15.0209	11.4527	0.50162	0.0:1.0:0.0:0.0	.	76;76	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	Y	76;76;90	ENSP00000247956:S76Y;ENSP00000353554:S76Y	ENSP00000247956:S76Y	S	+	2	0	ZNF317	9129008	0.000000	0.05858	0.998000	0.56505	0.994000	0.84299	0.047000	0.14056	2.142000	0.66516	0.591000	0.81541	TCT		0.488	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933	
ZNF560	147741	hgsc.bcm.edu	37	19	9577848	9577848	+	Missense_Mutation	SNP	C	C	T	rs149138221		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:9577848C>T	ENST00000301480.4	-	10	1988	c.1775G>A	c.(1774-1776)cGa>cAa	p.R592Q		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	592					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.R592Q(2)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ACTGTGTCTTCGTAAATGTTT	0.408													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21240	0.0		0.0	False		,,,				2504	0.0				p.R592Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G1775A	19						.						152.0	133.0	139.0					19																	9577848		2203	4300	6503	9438848	SO:0001583	missense	147741	exon10			AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1775G>A	19.37:g.9577848C>T	ENSP00000301480:p.Arg592Gln	Somatic		Capture	SOLID	Phase_I	9438848	NM_152476	Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901431	0.72754	.	.	ENSG00000198028	ENST00000301480	T	0.24723	1.84	2.05	-1.46	0.08800	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35098	0.0920	L	0.46157	1.445	0.09310	N	1	D	0.89917	1.0	D	0.74674	0.984	T	0.19549	-1.0302	9	0.87932	D	0	.	3.8419	0.08918	0.3478:0.5073:0.0:0.145	.	592	Q96MR9	ZN560_HUMAN	Q	592	ENSP00000301480:R592Q	ENSP00000301480:R592Q	R	-	2	0	ZNF560	9438848	0.000000	0.05858	0.000000	0.03702	0.865000	0.49528	-1.012000	0.03649	-0.246000	0.09611	0.491000	0.48974	CGA		0.408	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476	
ZNF560	147741	hgsc.bcm.edu	37	19	9584923	9584923	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:9584923A>C	ENST00000301480.4	-	4	322	c.109T>G	c.(109-111)Tta>Gta	p.L37V		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	37	KRAB 1. {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.L37V(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TCTCTGTATAAGTTTCTCTGA	0.438																																					p.L37V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T109G	19						.						141.0	135.0	137.0					19																	9584923		2203	4300	6503	9445923	SO:0001583	missense	147741	exon4			AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.109T>G	19.37:g.9584923A>C	ENSP00000301480:p.Leu37Val	Somatic		Capture	SOLID	Phase_I	9445923	NM_152476	Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	A	7.115	0.576731	0.13686	.	.	ENSG00000198028	ENST00000301480	T	0.05081	3.5	2.08	-0.341	0.12639	Krueppel-associated box (4);	.	.	.	.	T	0.13030	0.0316	H	0.95294	3.65	0.09310	N	1	B	0.26363	0.147	B	0.23018	0.043	T	0.33803	-0.9854	9	0.72032	D	0.01	.	2.1766	0.03864	0.2041:0.0:0.4937:0.3021	.	37	Q96MR9	ZN560_HUMAN	V	37	ENSP00000301480:L37V	ENSP00000301480:L37V	L	-	1	2	ZNF560	9445923	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.150000	0.10189	-0.010000	0.14271	-0.475000	0.04921	TTA		0.438	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476	
ZNF426	79088	hgsc.bcm.edu	37	19	9639304	9639304	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:9639304C>A	ENST00000535489.1	-	6	1753	c.1417G>T	c.(1417-1419)Gaa>Taa	p.E473*	ZNF426_ENST00000253115.2_Nonsense_Mutation_p.E473*|ZNF426_ENST00000593003.1_Nonsense_Mutation_p.E435*			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	473					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.E473*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TAGGGTTTTTCTCCAGTGTGG	0.433																																					p.E473X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1417T	19						.						95.0	92.0	93.0					19																	9639304		2203	4300	6503	9500304	SO:0001587	stop_gained	79088	exon8			AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"""Zinc fingers, C2H2-type"", ""-"""	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.1417G>T	19.37:g.9639304C>A	ENSP00000439017:p.Glu473*	Somatic		Capture	SOLID	Phase_I	9500304	NM_024106	B3KTL2	Nonsense_Mutation	SNP	ENST00000535489.1	37	CCDS12215.1	.	.	.	.	.	.	.	.	.	.	C	36	5.842043	0.97016	.	.	ENSG00000130818	ENST00000545189;ENST00000253115;ENST00000535489	.	.	.	1.52	0.453	0.16639	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	5.7914	0.18363	0.0:0.807:0.0:0.193	.	.	.	.	X	460;473;473	.	ENSP00000253115:E473X	E	-	1	0	ZNF426	9500304	0.000000	0.05858	0.007000	0.13788	0.168000	0.22595	0.548000	0.23314	0.193000	0.20303	0.563000	0.77884	GAA		0.433	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106	
COL5A3	50509	hgsc.bcm.edu	37	19	10116243	10116243	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:10116243C>A	ENST00000264828.3	-	4	670	c.585G>T	c.(583-585)aaG>aaT	p.K195N		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	195	Laminin G-like.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.K195N(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCTCGAAAGTCTTTTCCCCAA	0.532																																					p.K195N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G585T	19						.						68.0	69.0	69.0					19																	10116243		2203	4300	6503	9977243	SO:0001583	missense	50509	exon4			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.585G>T	19.37:g.10116243C>A	ENSP00000264828:p.Lys195Asn	Somatic		Capture	SOLID	Phase_I	9977243	NM_015719	Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	7.655	0.683702	0.14907	.	.	ENSG00000080573	ENST00000264828	D	0.89485	-2.52	4.72	1.35	0.21983	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.501626	0.19025	N	0.124720	T	0.75443	0.3850	N	0.14661	0.345	0.21604	N	0.999623	B	0.12013	0.005	B	0.12156	0.007	T	0.64330	-0.6433	10	0.54805	T	0.06	.	3.9575	0.09396	0.0:0.5438:0.2301:0.2261	.	195	P25940	CO5A3_HUMAN	N	195	ENSP00000264828:K195N	ENSP00000264828:K195N	K	-	3	2	COL5A3	9977243	0.491000	0.26019	0.556000	0.28293	0.143000	0.21401	0.321000	0.19558	0.409000	0.25649	0.462000	0.41574	AAG		0.532	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719	
RDH8	50700	hgsc.bcm.edu	37	19	10129541	10129541	+	Missense_Mutation	SNP	C	C	T	rs143718713		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:10129541C>T	ENST00000171214.1	+	3	646	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	RDH8_ENST00000591589.1_Missense_Mutation_p.R153W	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	133					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.R133W(1)		endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GAAGAGGAGGCGGCAGGGCCA	0.587																																					p.R133W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C397T	19						.	C	TRP/ARG	0,4406		0,0,2203	85.0	82.0	83.0		397	1.8	0.2	19	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	missense	RDH8	NM_015725.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	133/312	10129541	1,13005	2203	4300	6503	9990541	SO:0001583	missense	50700	exon3			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.397C>T	19.37:g.10129541C>T	ENSP00000171214:p.Arg133Trp	Somatic		Capture	SOLID	Phase_I	9990541	NM_015725	Q9H838	Missense_Mutation	SNP	ENST00000171214.1	37		.	.	.	.	.	.	.	.	.	.	C	18.80	3.700323	0.68501	0.0	1.16E-4	ENSG00000080511	ENST00000171214	D	0.93659	-3.26	5.34	1.83	0.25207	NAD(P)-binding domain (1);	0.363846	0.26605	N	0.023454	D	0.96269	0.8783	M	0.88704	2.975	0.39293	D	0.964764	D	0.89917	1.0	D	0.80764	0.994	D	0.95079	0.8211	10	0.72032	D	0.01	.	8.5103	0.33213	0.4379:0.4189:0.1432:0.0	.	133	Q9NYR8	RDH8_HUMAN	W	133	ENSP00000171214:R133W	ENSP00000171214:R133W	R	+	1	2	RDH8	9990541	0.031000	0.19500	0.175000	0.22980	0.995000	0.86356	0.276000	0.18716	0.178000	0.19917	0.491000	0.48974	CGG		0.587	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			
ZNF549	256051	hgsc.bcm.edu	37	19	58049007	58049007	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:58049007G>T	ENST00000376233.3	+	4	816	c.635G>T	c.(634-636)aGa>aTa	p.R212I	ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.R199I	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	212					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.R199I(1)|p.R199T(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TATGCACATAGAAGCAGGGAG	0.438																																					p.R212I												.	.	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.G635T	19						.						83.0	77.0	79.0					19																	58049007		2202	4300	6502	62740819	SO:0001583	missense	256051	exon4			AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.635G>T	19.37:g.58049007G>T	ENSP00000365407:p.Arg212Ile	Somatic		Capture	SOLID	Phase_I	62740819	NM_001199295	B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	ENST00000376233.3	37	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.436138	0.43224	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.06768	3.29;3.26	2.03	0.905	0.19307	.	.	.	.	.	T	0.06645	0.0170	N	0.16833	0.445	0.09310	N	1	P;P	0.42961	0.588;0.795	B;B	0.44163	0.209;0.443	T	0.34950	-0.9808	9	0.62326	D	0.03	.	7.5439	0.27755	0.0:0.0:0.7431:0.2569	.	212;199	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	I	199;212	ENSP00000240719:R199I;ENSP00000365407:R212I	ENSP00000240719:R199I	R	+	2	0	ZNF549	62740819	0.014000	0.17966	0.002000	0.10522	0.937000	0.57800	1.871000	0.39539	0.382000	0.24878	0.650000	0.86243	AGA		0.438	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263	
NTNG1	22854	hgsc.bcm.edu	37	1	107691415	107691415	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:107691415C>A	ENST00000370068.1	+	2	1046	c.200C>A	c.(199-201)cCt>cAt	p.P67H	NTNG1_ENST00000370066.1_Missense_Mutation_p.P67H|NTNG1_ENST00000370065.1_Missense_Mutation_p.P67H|NTNG1_ENST00000370067.1_Missense_Mutation_p.P67H|NTNG1_ENST00000370074.4_Missense_Mutation_p.P67H|NTNG1_ENST00000370071.2_Missense_Mutation_p.P67H|NTNG1_ENST00000370070.2_Missense_Mutation_p.P67H|NTNG1_ENST00000370061.3_Missense_Mutation_p.P67H|NTNG1_ENST00000542803.1_Missense_Mutation_p.P67H|NTNG1_ENST00000370072.3_Missense_Mutation_p.P67H|NTNG1_ENST00000370073.2_Missense_Mutation_p.P67H			Q9Y2I2	NTNG1_HUMAN	netrin G1	67	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)		p.P67H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AAACTCGATCCTCCGGATATT	0.433																																					p.P67H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C200A	1						.						123.0	127.0	126.0					1																	107691415		2203	4300	6503	107492938	SO:0001583	missense	22854	exon2			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.200C>A	1.37:g.107691415C>A	ENSP00000359085:p.Pro67His	Somatic		Capture	SOLID	Phase_I	107492938	NM_014917	Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	37	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.972685	0.92919	.	.	ENSG00000162631	ENST00000370076;ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370074;ENST00000370068;ENST00000294649;ENST00000370067;ENST00000370066;ENST00000370065	T;T;T;T;T;T;T;T;T;T;T	0.74106	0.78;-0.38;0.72;0.14;0.08;-0.55;-0.81;0.78;-0.55;-0.38;0.16	5.38	5.38	0.77491	Laminin, N-terminal (2);	0.000000	0.53938	D	0.000057	D	0.84826	0.5558	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.986;0.999;0.997	D	0.85678	0.1299	10	0.72032	D	0.01	.	19.4943	0.95065	0.0:1.0:0.0:0.0	.	67;67;67;67;67	B4DKF0;Q9Y2I2;Q9Y2I2-4;Q9Y2I2-2;Q9Y2I2-1	.;NTNG1_HUMAN;.;.;.	H	67	ENSP00000359090:P67H;ENSP00000359088:P67H;ENSP00000440561:P67H;ENSP00000359078:P67H;ENSP00000359089:P67H;ENSP00000359087:P67H;ENSP00000359091:P67H;ENSP00000359085:P67H;ENSP00000359084:P67H;ENSP00000359083:P67H;ENSP00000359082:P67H	ENSP00000294649:P67H	P	+	2	0	NTNG1	107492938	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.445000	0.80570	2.677000	0.91161	0.491000	0.48974	CCT		0.433	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917	
KIAA1324	57535	hgsc.bcm.edu	37	1	109727722	109727722	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:109727722C>A	ENST00000369939.3	+	8	1191	c.1008C>A	c.(1006-1008)ttC>ttA	p.F336L	KIAA1324_ENST00000529753.1_Intron	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	336					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.F336L(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)		AAGATTATTTCTACACACACA	0.483																																					p.F336L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1008A	1						.						127.0	123.0	124.0					1																	109727722		2203	4300	6503	109529245	SO:0001583	missense	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.1008C>A	1.37:g.109727722C>A	ENSP00000358955:p.Phe336Leu	Somatic		Capture	SOLID	Phase_I	109529245	NM_020775	Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	CCDS794.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.551975	0.65311	.	.	ENSG00000116299	ENST00000369939;ENST00000457623	T;T	0.44083	1.59;0.93	5.19	4.28	0.50868	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.24586	0.0596	L	0.56396	1.775	0.80722	D	1	B;B;B	0.20780	0.048;0.048;0.01	B;B;B	0.28305	0.088;0.088;0.019	T	0.10965	-1.0607	10	0.45353	T	0.12	-26.2471	9.6413	0.39842	0.0:0.8299:0.0:0.1701	.	336;336;336	Q6UXG2-4;C9J810;Q6UXG2	.;.;K1324_HUMAN	L	336;286	ENSP00000358955:F336L;ENSP00000393964:F286L	ENSP00000358955:F336L	F	+	3	2	KIAA1324	109529245	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.007000	0.57093	1.185000	0.42971	0.561000	0.74099	TTC		0.483	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775	
MTOR	2475	hgsc.bcm.edu	37	1	11190804	11190804	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:11190804C>T	ENST00000361445.4	-	39	5471	c.5395G>A	c.(5395-5397)Gaa>Aaa	p.E1799K	MTOR_ENST00000495435.1_5'Flank|MTOR_ENST00000376838.1_Missense_Mutation_p.E4K	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1799	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.E1799K(4)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	AGCACAGCTTCGAAGTTCATC	0.582																																					p.E1799K												.	.	4	Substitution - Missense(4)	endometrium(2)|large_intestine(1)|prostate(1)	c.G5395A	1						.						121.0	74.0	90.0					1																	11190804		2200	4300	6500	11113391	SO:0001583	missense	2475	exon39			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5395G>A	1.37:g.11190804C>T	ENSP00000354558:p.Glu1799Lys	Somatic		Capture	SOLID	Phase_I	11113391	NM_004958	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414915	0.83449	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.71934	-0.61;-0.61	5.54	5.54	0.83059	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-like helical (1);	0.052549	0.85682	D	0.000000	T	0.71273	0.3320	L	0.49126	1.545	0.80722	D	1	P	0.46457	0.878	P	0.44897	0.463	T	0.71540	-0.4562	10	0.41790	T	0.15	-10.2886	19.5023	0.95100	0.0:1.0:0.0:0.0	.	1799	P42345	MTOR_HUMAN	K	1799;4	ENSP00000354558:E1799K;ENSP00000366034:E4K	ENSP00000354558:E1799K	E	-	1	0	MTOR	11113391	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	7.447000	0.80620	2.605000	0.88082	0.591000	0.81541	GAA		0.582	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958	
KCNA10	3744	hgsc.bcm.edu	37	1	111061020	111061020	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:111061020G>T	ENST00000369771.2	-	1	777	c.390C>A	c.(388-390)ttC>ttA	p.F130L		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	130					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)	p.F130L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	TCCGATCAAAGAAATACTCAT	0.463																																					p.F130L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C390A	1						.						61.0	66.0	64.0					1																	111061020		2203	4300	6503	110862543	SO:0001583	missense	3744	exon1			U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.390C>A	1.37:g.111061020G>T	ENSP00000358786:p.Phe130Leu	Somatic		Capture	SOLID	Phase_I	110862543	NM_005549		Missense_Mutation	SNP	ENST00000369771.2	37	CCDS826.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166020	0.57476	.	.	ENSG00000143105	ENST00000369771	D	0.83591	-1.74	5.93	3.66	0.41972	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.93171	0.7825	H	0.99225	4.475	0.44345	D	0.997233	D	0.76494	0.999	D	0.75020	0.985	D	0.93955	0.7235	10	0.87932	D	0	.	9.7564	0.40506	0.2493:0.0:0.7507:0.0	.	130	Q16322	KCA10_HUMAN	L	130	ENSP00000358786:F130L	ENSP00000358786:F130L	F	-	3	2	KCNA10	110862543	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.264000	0.43302	1.437000	0.47472	0.655000	0.94253	TTC		0.463	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549	
RSBN1	54665	hgsc.bcm.edu	37	1	114308701	114308701	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:114308701T>G	ENST00000261441.5	-	7	2373	c.2310A>C	c.(2308-2310)caA>caC	p.Q770H	RSBN1_ENST00000369581.2_5'Flank	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	770						nucleus (GO:0005634)		p.Q770H(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-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)		TCTTCTGATCTTGCTGTAGAT	0.408																																					p.Q770H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2310C	1						.						140.0	134.0	136.0					1																	114308701		2203	4300	6503	114110224	SO:0001583	missense	54665	exon7			AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.2310A>C	1.37:g.114308701T>G	ENSP00000261441:p.Gln770His	Somatic		Capture	SOLID	Phase_I	114110224	NM_018364	A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	ENST00000261441.5	37	CCDS862.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.116200	0.37339	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.85	0.123	0.14709	.	0.765098	0.12430	N	0.469613	T	0.10465	0.0256	N	0.22421	0.69	0.29773	N	0.834632	B	0.09022	0.002	B	0.04013	0.001	T	0.19353	-1.0308	9	0.87932	D	0	-0.4539	5.2624	0.15582	0.0:0.2627:0.138:0.5994	.	770	Q5VWQ0	RSBN1_HUMAN	H	770	.	ENSP00000261441:Q770H	Q	-	3	2	RSBN1	114110224	1.000000	0.71417	0.896000	0.35187	0.985000	0.73830	0.985000	0.29578	-0.213000	0.10094	0.455000	0.32223	CAA		0.408	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364	
DRAXIN	374946	hgsc.bcm.edu	37	1	11769501	11769501	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:11769501C>T	ENST00000294485.5	+	3	756	c.621C>T	c.(619-621)ccC>ccT	p.P207P		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein									p.P207P(2)									TGATCCTGCCCGTCACCTCCC	0.587																																					p.P207P												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C621T	1						.						60.0	46.0	51.0					1																	11769501		2203	4300	6503	11692088	SO:0001819	synonymous_variant	374946	exon3			AY358750	CCDS135.1	1p36.22	2012-08-20	2012-08-14	2012-08-14	ENSG00000162490	ENSG00000162490			25054	protein-coding gene	gene with protein product	"""dorsal repulsive axon guidance protein"", ""neural tissue-specific cysteine-rich protein"""	612682	"""chromosome 1 open reading frame 187"""	C1orf187		19150847	Standard	NM_198545		Approved	FLJ34999, Draxin, Neucrin	uc001asr.1	Q8NBI3	OTTHUMG00000002227	ENST00000294485.5:c.621C>T	1.37:g.11769501C>T		Somatic		Capture	SOLID	Phase_I	11692088	NM_198545		Silent	SNP	ENST00000294485.5	37	CCDS135.1																																																																																				0.587	DRAXIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006325.1	NM_198545	
TNFRSF8	943	hgsc.bcm.edu	37	1	12164485	12164485	+	Silent	SNP	C	C	T	rs149306762		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:12164485C>T	ENST00000263932.2	+	4	540	c.318C>T	c.(316-318)tgC>tgT	p.C106C	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	106					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.C106C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-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;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	CCCGTGTCTGCGAATGTCGAC	0.577																																					p.C106C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C318T	1						.	C		0,4406		0,0,2203	169.0	128.0	142.0		318	-3.0	0.2	1	dbSNP_134	142	1,8599		0,1,4299	no	coding-synonymous	TNFRSF8	NM_001243.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		106/596	12164485	1,13005	2203	4300	6503	12087072	SO:0001819	synonymous_variant	943	exon4			M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.318C>T	1.37:g.12164485C>T		Somatic		Capture	SOLID	Phase_I	12087072	NM_001243	B1AN79|B9EGD9|D3YTD8|Q6P4D9	Silent	SNP	ENST00000263932.2	37	CCDS144.1																																																																																				0.577	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1		
PDPN	10630	hgsc.bcm.edu	37	1	13910573	13910573	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:13910573G>A	ENST00000294489.6	+	1	614	c.273G>A	c.(271-273)tcG>tcA	p.S91S	PDPN_ENST00000513143.1_5'Flank|PDPN_ENST00000475043.1_5'Flank|PDPN_ENST00000376061.4_5'Flank|PDPN_ENST00000487038.1_5'Flank|PDPN_ENST00000376057.4_Silent_p.S91S|PDPN_ENST00000509009.1_5'Flank					podoplanin									p.S91S(1)		endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-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;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		GAAGCGCGTCGCTCTGGGTCC	0.612																																					p.S91S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G273A	1						.						41.0	31.0	35.0					1																	13910573		2194	4272	6466	13783160	SO:0001819	synonymous_variant	10630	exon1			AB127958, AY194238	CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1	1p36.21	2008-02-05			ENSG00000162493	ENSG00000162493			29602	protein-coding gene	gene with protein product	"""lung type I cell membrane associated glycoprotein"""	608863				10393083, 9651190	Standard	NM_006474		Approved	T1A-2, Gp38, aggrus, GP40, PA2.26	uc001avd.3	Q86YL7	OTTHUMG00000007912	ENST00000294489.6:c.273G>A	1.37:g.13910573G>A		Somatic		Capture	SOLID	Phase_I	13783160	NM_006474		Silent	SNP	ENST00000294489.6	37	CCDS30602.1																																																																																				0.612	PDPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021783.2	NM_006474	
CSDE1	7812	hgsc.bcm.edu	37	1	115262217	115262217	+	Silent	SNP	A	A	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:115262217A>G	ENST00000358528.4	-	18	2625	c.2199T>C	c.(2197-2199)tgT>tgC	p.C733C	NRAS_ENST00000369535.4_5'Flank|CSDE1_ENST00000534699.1_Silent_p.C733C|CSDE1_ENST00000530886.1_Silent_p.C603C|CSDE1_ENST00000339438.6_Silent_p.C702C|CSDE1_ENST00000261443.5_Silent_p.C702C|CSDE1_ENST00000483407.1_5'Flank|CSDE1_ENST00000369530.1_Silent_p.C748C|CSDE1_ENST00000438362.2_Silent_p.C779C	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	733	CSD 9.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.C733C(1)		NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCAAACATTACAGGCGCTGC	0.448																																					p.C702C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2106C	1						.						121.0	121.0	121.0					1																	115262217		2203	4300	6503	115063740	SO:0001819	synonymous_variant	7812	exon17				CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.2199T>C	1.37:g.115262217A>G		Somatic		Capture	SOLID	Phase_I	115063740	NM_007158	A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Silent	SNP	ENST00000358528.4	37	CCDS30812.1																																																																																				0.448	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158	
PDE4DIP	9659	hgsc.bcm.edu	37	1	144871738	144871738	+	Missense_Mutation	SNP	C	C	A	rs1698605	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:144871738C>A	ENST00000369354.3	-	32	5413	c.5224G>T	c.(5224-5226)Gct>Tct	p.A1742S	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.A1878S|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A1827S|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A1742S			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1742			A -> S (in dbSNP:rs1698605). {ECO:0000269|PubMed:17974005}.		cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCTGCTGAGCCTCAGCCAAG	0.582			T	PDGFRB	MPD																																p.A1742S			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	.	0			c.G5224T	1						.																																			143583095	SO:0001583	missense	9659	exon32			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5224G>T	1.37:g.144871738C>A	ENSP00000358360:p.Ala1742Ser	Somatic		Capture	SOLID	Phase_I	143583095	NM_014644	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	1092	0.5	246	0.5	181	0.5	286	0.5	379	0.5	C	31	5.071375	0.93950	.	.	ENSG00000178104	ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T	0.01887	4.69;4.69;4.58;4.7	5.97	5.97	0.96955	.	.	.	.	.	T	0.05731	0.0150	M	0.64997	1.995	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.56456	-0.7976	9	0.18276	T	0.48	.	17.9176	0.88957	0.0:1.0:0.0:0.0	rs1698605;rs61806627	1742	Q5VU43	MYOME_HUMAN	S	1742;1742;1827;1878	ENSP00000358360:A1742S;ENSP00000358363:A1742S;ENSP00000435654:A1827S;ENSP00000358366:A1878S	ENSP00000358360:A1742S	A	-	1	0	PDE4DIP	143583095	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.650000	0.74368	2.834000	0.97654	0.650000	0.86243	GCT		0.582	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	
ANKRD34A	284615	hgsc.bcm.edu	37	1	145473955	145473955	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:145473955G>A	ENST00000323397.4	+	4	1920	c.627G>A	c.(625-627)gaG>gaA	p.E209E	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	209						cytoplasm (GO:0005737)		p.E209E(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGAAGAGGAGAAGCGGGACG	0.612																																					p.E209E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G627A	1						.						68.0	74.0	72.0					1																	145473955		2203	4300	6503	144185312	SO:0001819	synonymous_variant	284615	exon4			AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.627G>A	1.37:g.145473955G>A		Somatic		Capture	SOLID	Phase_I	144185312	NM_001039888	B3KSU3	Silent	SNP	ENST00000323397.4	37	CCDS30829.1																																																																																				0.612	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1		
PRKAB2	5565	hgsc.bcm.edu	37	1	146638126	146638126	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:146638126G>A	ENST00000254101.3	-	5	627	c.489C>T	c.(487-489)ttC>ttT	p.F163F	PRKAB2_ENST00000425272.2_Silent_p.F81F	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit	163					carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)|regulation of fatty acid biosynthetic process (GO:0042304)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)	p.F163F(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)	TTAAAGCATCGAACACCTCAA	0.343																																					p.F163F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C489T	1						.						92.0	90.0	90.0					1																	146638126		2203	4300	6503	145104750	SO:0001819	synonymous_variant	5565	exon5			BC053610	CCDS925.1	1q21.2	2008-02-05			ENSG00000131791	ENSG00000131791			9379	protein-coding gene	gene with protein product	"""AMPK beta 2"""	602741				8557660	Standard	NM_005399		Approved		uc001epe.3	O43741	OTTHUMG00000014032	ENST00000254101.3:c.489C>T	1.37:g.146638126G>A		Somatic		Capture	SOLID	Phase_I	145104750	NM_005399	A8K9V5|B4DH06|Q5VXY0	Silent	SNP	ENST00000254101.3	37	CCDS925.1																																																																																				0.343	PRKAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039471.1	NM_005399	
CHD1L	9557	hgsc.bcm.edu	37	1	146756067	146756067	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:146756067G>A	ENST00000369258.4	+	16	1769	c.1749G>A	c.(1747-1749)gaG>gaA	p.E583E	CHD1L_ENST00000431239.1_Silent_p.E489E|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Silent_p.E379E|CHD1L_ENST00000361293.5_Silent_p.E302E	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	583					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.E583E(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)					ATTCTAAAGAGCCCAGTAAGG	0.333																																					p.E583E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1749A	1						.						85.0	89.0	88.0					1																	146756067		2203	4300	6503	145222691	SO:0001819	synonymous_variant	9557	exon16			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.1749G>A	1.37:g.146756067G>A		Somatic		Capture	SOLID	Phase_I	145222691	NM_004284	A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Silent	SNP	ENST00000369258.4	37	CCDS927.1																																																																																				0.333	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284	
BCL9	607	hgsc.bcm.edu	37	1	147091096	147091096	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:147091096G>T	ENST00000234739.3	+	8	1875	c.1135G>T	c.(1135-1137)Gaa>Taa	p.E379*		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	379	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.E379*(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TGATGAGAAAGAATTCACAGG	0.527			T	"""IGH@, IGL@"""	B-ALL																																p.E379X			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1135T	1						.						69.0	84.0	79.0					1																	147091096		2203	4300	6503	145557720	SO:0001587	stop_gained	607	exon8			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1135G>T	1.37:g.147091096G>T	ENSP00000234739:p.Glu379*	Somatic		Capture	SOLID	Phase_I	145557720	NM_004326	Q5T489	Nonsense_Mutation	SNP	ENST00000234739.3	37	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	G	43	9.952567	0.99303	.	.	ENSG00000116128	ENST00000234739	.	.	.	5.16	5.16	0.70880	.	0.048031	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-14.1476	14.5092	0.67772	0.0724:0.0:0.9276:0.0	.	.	.	.	X	379	.	ENSP00000234739:E379X	E	+	1	0	BCL9	145557720	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.536000	0.82023	2.857000	0.98124	0.650000	0.86243	GAA		0.527	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326	
GJA5	2702	hgsc.bcm.edu	37	1	147230401	147230401	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:147230401G>A	ENST00000271348.2	-	2	1107	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	GJA5_ENST00000369237.1_Missense_Mutation_p.R316C|RP11-433J22.2_ENST00000428911.1_RNA	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	316					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)	p.R316C(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TGGCCATAACGAACCTGGATG	0.537																																					p.R316C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C946T	1						.						149.0	136.0	141.0					1																	147230401		2203	4300	6503	145697025	SO:0001583	missense	2702	exon2				CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"""Ion channels / Gap junction proteins (connexins)"""	4279	protein-coding gene	gene with protein product	"""connexin 40"""	121013	"""gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)"""				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.946C>T	1.37:g.147230401G>A	ENSP00000271348:p.Arg316Cys	Somatic		Capture	SOLID	Phase_I	145697025	NM_005266	Q5T3B6|Q5U0N6	Missense_Mutation	SNP	ENST00000271348.2	37	CCDS929.1	.	.	.	.	.	.	.	.	.	.	G	4.608	0.113026	0.08831	.	.	ENSG00000143140	ENST00000271348;ENST00000369237	D;D	0.81908	-1.55;-1.55	5.38	4.46	0.54185	.	1.312490	0.05046	N	0.477147	T	0.60521	0.2275	L	0.36672	1.1	0.09310	N	1	D	0.56968	0.978	B	0.36504	0.226	T	0.54951	-0.8216	10	0.51188	T	0.08	.	8.7881	0.34835	0.0:0.1227:0.5866:0.2907	.	316	P36382	CXA5_HUMAN	C	316	ENSP00000271348:R316C;ENSP00000358240:R316C	ENSP00000271348:R316C	R	-	1	0	GJA5	145697025	0.338000	0.24775	0.002000	0.10522	0.010000	0.07245	2.401000	0.44513	1.482000	0.48325	-0.175000	0.13238	CGT		0.537	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703	
S100A9	6280	hgsc.bcm.edu	37	1	153333220	153333220	+	Missense_Mutation	SNP	C	C	T	rs147137403		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:153333220C>T	ENST00000368738.3	+	3	294	c.251C>T	c.(250-252)gCg>gTg	p.A84V		NM_002965.3	NP_002956.1	P06702	S10A9_HUMAN	S100 calcium binding protein A9	84	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagy (GO:0006914)|cell-cell signaling (GO:0007267)|chemokine production (GO:0032602)|chronic inflammatory response (GO:0002544)|cytokine production (GO:0001816)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|neutrophil aggregation (GO:0070488)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell growth (GO:0030307)|positive regulation of inflammatory response (GO:0050729)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of cytoskeleton organization (GO:0051493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to zinc ion (GO:0010043)|sequestering of zinc ion (GO:0032119)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	antioxidant activity (GO:0016209)|arachidonic acid binding (GO:0050544)|calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|RAGE receptor binding (GO:0050786)|signal transducer activity (GO:0004871)|Toll-like receptor 4 binding (GO:0035662)|zinc ion binding (GO:0008270)	p.A84V(1)		breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATGCTGATGGCGAGGCTAACC	0.562																																					p.A84V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C251T	1						.	C	VAL/ALA	0,4406		0,0,2203	81.0	65.0	70.0		251	-2.1	0.0	1	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	missense	S100A9	NM_002965.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	84/115	153333220	1,13005	2203	4300	6503	151599844	SO:0001583	missense	6280	exon3			BC047681	CCDS1036.1	1q21	2013-01-10	2006-09-11		ENSG00000163220	ENSG00000163220		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10499	protein-coding gene	gene with protein product		123886	"""S100 calcium-binding protein A9 (calgranulin B)"", ""S100 calcium binding protein A9 (calgranulin B)"""	CAGB, CFAG			Standard	NM_002965		Approved	P14, MIF, NIF, LIAG, MRP14, MAC387, 60B8AG, CGLB	uc001fbq.3	P06702	OTTHUMG00000013125	ENST00000368738.3:c.251C>T	1.37:g.153333220C>T	ENSP00000357727:p.Ala84Val	Somatic		Capture	SOLID	Phase_I	151599844	NM_002965	D3DV36|Q6FGA1|Q9NYM0|Q9UCJ1	Missense_Mutation	SNP	ENST00000368738.3	37	CCDS1036.1	.	.	.	.	.	.	.	.	.	.	C	8.697	0.908719	0.17833	0.0	1.16E-4	ENSG00000163220	ENST00000368738	T	0.06687	3.27	4.81	-2.12	0.07165	EF-hand-like domain (1);	0.139876	0.48286	D	0.000197	T	0.02418	0.0074	M	0.66560	2.04	0.09310	N	1	P	0.37500	0.597	B	0.23716	0.048	T	0.37126	-0.9719	10	0.33940	T	0.23	.	11.9412	0.52903	0.0:0.2874:0.6329:0.0796	.	84	P06702	S10A9_HUMAN	V	84	ENSP00000357727:A84V	ENSP00000357727:A84V	A	+	2	0	S100A9	151599844	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.013000	0.03645	-0.622000	0.05626	-1.129000	0.01985	GCG		0.562	S100A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036793.1	NM_002965	
JTB	10899	hgsc.bcm.edu	37	1	153948307	153948307	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:153948307G>T	ENST00000271843.4	-	4	714	c.279C>A	c.(277-279)ttC>ttA	p.F93L	RP11-422P24.11_ENST00000608236.1_lincRNA|JTB_ENST00000356648.1_Missense_Mutation_p.F64L|JTB_ENST00000471173.1_5'Flank|JTB_ENST00000368589.1_Missense_Mutation_p.F64L	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	93					apoptotic mitochondrial changes (GO:0008637)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|positive regulation of protein kinase activity (GO:0045860)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)	protein kinase binding (GO:0019901)	p.F93L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTCACCTTTTGAACTCATTTC	0.473																																					p.F93L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C279A	1						.						218.0	193.0	202.0					1																	153948307		2203	4300	6503	152214931	SO:0001583	missense	10899	exon4			AB016488	CCDS1057.1	1q21	2010-11-16			ENSG00000143543	ENSG00000143543			6201	protein-coding gene	gene with protein product	"""prostate androgen-regulated gene"""	604671				10321732	Standard	NM_006694		Approved	hJT	uc001fds.3	O76095	OTTHUMG00000036590	ENST00000271843.4:c.279C>A	1.37:g.153948307G>T	ENSP00000271843:p.Phe93Leu	Somatic		Capture	SOLID	Phase_I	152214931	NM_006694	O95442|Q6IB19|Q9P0Q4	Missense_Mutation	SNP	ENST00000271843.4	37	CCDS1057.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.862755	0.51482	.	.	ENSG00000143543	ENST00000271843;ENST00000356648;ENST00000368589;ENST00000428469	T	0.39229	1.09	5.3	3.39	0.38822	.	0.329157	0.32473	N	0.006047	T	0.18087	0.0434	L	0.43152	1.355	0.32464	N	0.543699	B	0.06786	0.001	B	0.12156	0.007	T	0.07233	-1.0783	10	0.39692	T	0.17	-8.5709	12.0346	0.53417	0.0:0.3338:0.6662:0.0	.	93	O76095	JTB_HUMAN	L	93;64;64;64	ENSP00000271843:F93L	ENSP00000271843:F93L	F	-	3	2	JTB	152214931	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.109000	0.41863	0.760000	0.33108	0.650000	0.86243	TTC		0.473	JTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088996.1	NM_006694	
AQP10	89872	hgsc.bcm.edu	37	1	154295586	154295586	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:154295586C>A	ENST00000324978.3	+	3	401	c.361C>A	c.(361-363)Ctc>Atc	p.L121I	ATP8B2_ENST00000368487.3_5'Flank|AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000484864.1_Missense_Mutation_p.L121I	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	121					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.L121I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CACCTATGTTCTCTACCATGG	0.557																																					p.L121I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C361A	1						.						127.0	125.0	125.0					1																	154295586		2203	4300	6503	152562210	SO:0001583	missense	89872	exon3			AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.361C>A	1.37:g.154295586C>A	ENSP00000318355:p.Leu121Ile	Somatic		Capture	SOLID	Phase_I	152562210	NM_080429	Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	ENST00000324978.3	37	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	C	5.068	0.198192	0.09652	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	D;D	0.85629	-2.01;-2.01	4.92	1.93	0.25924	Aquaporin-like (2);	0.227351	0.36374	N	0.002640	T	0.53029	0.1771	N	0.20881	0.62	0.22880	N	0.998614	B;B	0.19445	0.036;0.016	B;B	0.24394	0.053;0.037	T	0.47947	-0.9077	10	0.33141	T	0.24	.	4.573	0.12219	0.1441:0.4586:0.3167:0.0807	.	121;121	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	I	121	ENSP00000318355:L121I;ENSP00000420341:L121I	ENSP00000318355:L121I	L	+	1	0	AQP10	152562210	0.001000	0.12720	0.221000	0.23827	0.360000	0.29518	-0.074000	0.11450	0.245000	0.21373	0.555000	0.69702	CTC		0.557	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429	
UBE2Q1	55585	hgsc.bcm.edu	37	1	154524926	154524926	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:154524926C>T	ENST00000292211.4	-	7	908	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K	UBE2Q1_ENST00000497453.1_5'UTR|UBE2Q1-AS1_ENST00000441613.1_RNA	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	277					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.E277K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	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)			TTCACGAGTTCGACTGCATAG	0.498																																					p.E277K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G829A	1						.						134.0	129.0	131.0					1																	154524926		2203	4300	6503	152791550	SO:0001583	missense	55585	exon7			AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"""Ubiquitin-conjugating enzymes E2"""	15698	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2Q (putative)"""	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.829G>A	1.37:g.154524926C>T	ENSP00000292211:p.Glu277Lys	Somatic		Capture	SOLID	Phase_I	152791550	NM_017582	B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Missense_Mutation	SNP	ENST00000292211.4	37	CCDS1069.1	.	.	.	.	.	.	.	.	.	.	C	32	5.137618	0.94517	.	.	ENSG00000160714	ENST00000292211	.	.	.	5.71	3.83	0.44106	Ubiquitin-conjugating enzyme, E2 (1);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.59878	0.2226	M	0.87617	2.895	0.53688	D	0.999971	D	0.65815	0.995	P	0.50537	0.643	T	0.69514	-0.5125	9	0.87932	D	0	-15.0902	10.9096	0.47101	0.0:0.8469:0.0:0.1531	.	277	Q7Z7E8	UB2Q1_HUMAN	K	277	.	ENSP00000292211:E277K	E	-	1	0	UBE2Q1	152791550	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	3.926000	0.56491	1.421000	0.47157	0.563000	0.77884	GAA		0.498	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090704.1	NM_017582	
DCST1	149095	hgsc.bcm.edu	37	1	155011954	155011954	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:155011954G>A	ENST00000295542.1	+	5	434	c.338G>A	c.(337-339)gGc>gAc	p.G113D	DCST1_ENST00000392480.1_Missense_Mutation_p.G113D|DCST1_ENST00000423025.2_Missense_Mutation_p.G88D|DCST1_ENST00000368419.2_Missense_Mutation_p.G113D	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	113						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.G113D(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AAGATGCTGGGCAAGGAAGGC	0.612																																					p.G88D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G263A	1						.						124.0	116.0	119.0					1																	155011954		2203	4300	6503	153278578	SO:0001583	missense	149095	exon4			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.338G>A	1.37:g.155011954G>A	ENSP00000295542:p.Gly113Asp	Somatic		Capture	SOLID	Phase_I	153278578	NM_001143687	B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463258	0.84425	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.26	5.26	0.73747	.	0.463838	0.21307	N	0.076709	T	0.63954	0.2555	M	0.67953	2.075	0.53688	D	0.999971	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.77004	0.978;0.989;0.978	T	0.66260	-0.5968	10	0.59425	D	0.04	-29.3388	14.3669	0.66812	0.0:0.0:1.0:0.0	.	88;138;113	E9PHV3;E9PJX3;Q5T197	.;.;DCST1_HUMAN	D	113;113;88;113	ENSP00000295542:G113D;ENSP00000376271:G113D;ENSP00000387369:G88D;ENSP00000357404:G113D	ENSP00000295542:G113D	G	+	2	0	DCST1	153278578	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	6.310000	0.72830	2.472000	0.83506	0.585000	0.79938	GGC		0.612	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494	
HCN3	57657	hgsc.bcm.edu	37	1	155254392	155254392	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:155254392C>T	ENST00000368358.3	+	4	941	c.933C>T	c.(931-933)tgC>tgT	p.C311C	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	311					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.C311C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACATGCTGTGCATTGGCTATG	0.597																																					p.C311C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C933T	1						.						89.0	69.0	76.0					1																	155254392		2203	4300	6503	153521016	SO:0001819	synonymous_variant	57657	exon4			AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.933C>T	1.37:g.155254392C>T		Somatic		Capture	SOLID	Phase_I	153521016	NM_020897	D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Silent	SNP	ENST00000368358.3	37	CCDS1108.1																																																																																				0.597	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897	
ARHGEF11	9826	hgsc.bcm.edu	37	1	156916804	156916804	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:156916804G>A	ENST00000361409.2	-	26	3114	c.2372C>T	c.(2371-2373)tCc>tTc	p.S791F	ARHGEF11_ENST00000487682.1_5'Flank|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.S207F|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.S831F	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	791	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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.S831F(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)					TTCACACCAGGAATCTGGGGC	0.522																																					p.S831F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2492T	1						.						87.0	91.0	89.0					1																	156916804		2203	4300	6503	155183428	SO:0001583	missense	9826	exon27			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.2372C>T	1.37:g.156916804G>A	ENSP00000354644:p.Ser791Phe	Somatic		Capture	SOLID	Phase_I	155183428	NM_198236	D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454486	0.63290	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.64803	-0.12;-0.12;-0.12	5.29	4.37	0.52481	Dbl homology (DH) domain (5);	0.107081	0.42294	D	0.000722	T	0.66665	0.2812	M	0.68317	2.08	0.58432	D	0.999997	P;D;P	0.56521	0.938;0.976;0.857	P;P;P	0.58391	0.766;0.838;0.665	T	0.70766	-0.4783	10	0.51188	T	0.08	-20.7591	15.8685	0.79084	0.0:0.1358:0.8642:0.0	.	207;791;831	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	F	831;791;207	ENSP00000357177:S831F;ENSP00000354644:S791F;ENSP00000313470:S207F	ENSP00000313470:S207F	S	-	2	0	ARHGEF11	155183428	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.143000	0.42187	1.432000	0.47375	0.555000	0.69702	TCC		0.522	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236	
OR6N2	81442	hgsc.bcm.edu	37	1	158746958	158746958	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:158746958G>A	ENST00000339258.1	-	1	467	c.468C>T	c.(466-468)ccC>ccT	p.P156P		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P156P(1)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					CCTCAGAAATGGGACACAGGA	0.502																																					p.P156P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C468T	1						.						70.0	72.0	71.0					1																	158746958		2203	4300	6503	157013582	SO:0001819	synonymous_variant	81442	exon1			BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.468C>T	1.37:g.158746958G>A		Somatic		Capture	SOLID	Phase_I	157013582	NM_001005278	Q6IFR2	Silent	SNP	ENST00000339258.1	37	CCDS30906.1																																																																																				0.502	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1		
SLAMF9	89886	hgsc.bcm.edu	37	1	159923309	159923309	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:159923309G>T	ENST00000368093.3	-	2	297	c.181C>A	c.(181-183)Ctt>Att	p.L61I	SLAMF9_ENST00000466773.1_5'Flank|SLAMF9_ENST00000368092.3_Missense_Mutation_p.L61I	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	61	Ig-like V-type.					integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.L61I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACAGTGGCAAGACTTTTGTGA	0.542																																					p.L61I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C181A	1						.						184.0	160.0	168.0					1																	159923309		2203	4300	6503	158189933	SO:0001583	missense	89886	exon2			AY034613	CCDS1191.1, CCDS53392.1	1q23.1	2013-01-11			ENSG00000162723	ENSG00000162723		"""Immunoglobulin superfamily / V-set domain containing"""	18430	protein-coding gene	gene with protein product		608589				11685473	Standard	NM_033438		Approved	CD2F-10, CD84-H1, SF2001	uc001fus.3	Q96A28	OTTHUMG00000024074	ENST00000368093.3:c.181C>A	1.37:g.159923309G>T	ENSP00000357072:p.Leu61Ile	Somatic		Capture	SOLID	Phase_I	158189933	NM_033438	Q5JRQ9|Q5JRR0|Q6UWG1	Missense_Mutation	SNP	ENST00000368093.3	37	CCDS1191.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.991367	0.54041	.	.	ENSG00000162723	ENST00000368093;ENST00000368092	T;T	0.30182	1.54;1.54	5.61	1.31	0.21738	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.161572	0.34435	N	0.003978	T	0.11367	0.0277	L	0.38692	1.165	0.09310	N	1	B;P	0.38129	0.336;0.619	B;P	0.44447	0.242;0.45	T	0.16778	-1.0391	9	.	.	.	-16.7781	6.3853	0.21558	0.0855:0.0:0.4598:0.4547	.	61;61	Q96A28-2;Q96A28	.;SLAF9_HUMAN	I	61	ENSP00000357072:L61I;ENSP00000357071:L61I	.	L	-	1	0	SLAMF9	158189933	0.959000	0.32827	0.007000	0.13788	0.521000	0.34408	2.106000	0.41835	0.277000	0.22141	0.655000	0.94253	CTT		0.542	SLAMF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060630.1	NM_033438	
ATP1A4	480	hgsc.bcm.edu	37	1	160136350	160136350	+	Silent	SNP	G	G	A	rs7529215	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:160136350G>A	ENST00000368081.4	+	8	1551	c.1080G>A	c.(1078-1080)gcG>gcA	p.A360A		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	360					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCGCATGGCGCGGAAGAACT	0.567													g|||	2345	0.468251	0.2806	0.5375	5008	,	,		19774	0.4851		0.5457	False		,,,				2504	0.5757				p.A360A												.	.	0			c.G1080A	1						.	A		1475,2931	473.1+/-356.6	267,941,995	88.0	79.0	82.0		1080	-8.6	0.0	1	dbSNP_116	82	4867,3733	618.0+/-396.7	1413,2041,846	no	coding-synonymous	ATP1A4	NM_144699.3		1680,2982,1841	AA,AG,GG		43.407,33.4771,48.7621		360/1030	160136350	6342,6664	2203	4300	6503	158402974	SO:0001819	synonymous_variant	480	exon8			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.1080G>A	1.37:g.160136350G>A		Somatic		Capture	SOLID	Phase_I	158402974	NM_144699	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	CCDS1197.1																																																																																				0.567	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699	
LMX1A	4009	hgsc.bcm.edu	37	1	165179969	165179969	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:165179969G>A	ENST00000342310.3	-	6	1096	c.714C>T	c.(712-714)gtC>gtT	p.V238V	RP11-38C18.2_ENST00000457106.1_RNA|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000367893.4_Silent_p.V238V|LMX1A_ENST00000294816.2_Silent_p.V238V	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	238					axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.V238V(1)		NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					ACACCTGGACGACACGGACAC	0.483																																					p.V238V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C714T	1						.						108.0	85.0	93.0					1																	165179969		2203	4300	6503	163446593	SO:0001819	synonymous_variant	4009	exon6			AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.714C>T	1.37:g.165179969G>A		Somatic		Capture	SOLID	Phase_I	163446593	NM_177398	B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Silent	SNP	ENST00000342310.3	37	CCDS1247.1																																																																																				0.483	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398	
RXRG	6258	hgsc.bcm.edu	37	1	165389151	165389151	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:165389151G>A	ENST00000359842.5	-	3	700	c.398C>T	c.(397-399)tCt>tTt	p.S133F	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	133	Modulating. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S133F(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	TTTAACCAGAGATCCGGGGCT	0.522																																					p.S133F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C398T	1						.						144.0	135.0	138.0					1																	165389151		2203	4300	6503	163655775	SO:0001583	missense	6258	exon3			U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.398C>T	1.37:g.165389151G>A	ENSP00000352900:p.Ser133Phe	Somatic		Capture	SOLID	Phase_I	163655775	NM_006917	A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905431	0.52333	.	.	ENSG00000143171	ENST00000359842	D	0.93604	-3.25	5.22	4.3	0.51218	.	0.319699	0.33401	N	0.004958	D	0.93475	0.7918	M	0.70595	2.14	0.48762	D	0.999700	D	0.54397	0.966	P	0.55161	0.77	D	0.94249	0.7492	9	0.87932	D	0	.	11.9469	0.52934	0.0845:0.0:0.9155:0.0	.	133	P48443	RXRG_HUMAN	F	133	ENSP00000352900:S133F	ENSP00000352900:S133F	S	-	2	0	RXRG	163655775	0.777000	0.28628	0.555000	0.28281	0.525000	0.34531	3.568000	0.53820	2.428000	0.82296	0.655000	0.94253	TCT		0.522	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917	
FAM78B	149297	hgsc.bcm.edu	37	1	166039835	166039835	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:166039835G>A	ENST00000338353.3	-	3	1018	c.429C>T	c.(427-429)taC>taT	p.Y143Y	FAM78B_ENST00000354422.3_Silent_p.Y143Y			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	143								p.Y143Y(1)		central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					TCACACTGGGGTAGAAGTTGT	0.532																																					p.Y143Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C429T	1						.						207.0	178.0	188.0					1																	166039835		2203	4300	6503	164306459	SO:0001819	synonymous_variant	149297	exon2			AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.429C>T	1.37:g.166039835G>A		Somatic		Capture	SOLID	Phase_I	164306459	NM_001017961	B7Z693	Silent	SNP	ENST00000338353.3	37	CCDS30931.1																																																																																				0.532	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961	
DUSP27	92235	hgsc.bcm.edu	37	1	167096020	167096020	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:167096020G>T	ENST00000361200.2	+	6	1818	c.1652G>T	c.(1651-1653)aGa>aTa	p.R551I	DUSP27_ENST00000443333.1_Missense_Mutation_p.R551I|DUSP27_ENST00000271385.5_Missense_Mutation_p.R551I|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	551					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R551I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AAGATCAAGAGAATCCAATTT	0.547																																					p.R551I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1652T	1						.						84.0	84.0	84.0					1																	167096020		2203	4300	6503	165362644	SO:0001583	missense	92235	exon5			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1652G>T	1.37:g.167096020G>T	ENSP00000354483:p.Arg551Ile	Somatic		Capture	SOLID	Phase_I	165362644	NM_001080426	A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010293	0.75046	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.10668	2.85;2.85;2.85	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000002	T	0.27205	0.0667	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.02868	-1.1100	10	0.87932	D	0	-18.1235	18.9544	0.92653	0.0:0.0:1.0:0.0	.	551	Q5VZP5	DUS27_HUMAN	I	551	ENSP00000354483:R551I;ENSP00000271385:R551I;ENSP00000404874:R551I	ENSP00000271385:R551I	R	+	2	0	DUSP27	165362644	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.466000	0.97665	2.453000	0.82957	0.643000	0.83706	AGA		0.547	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426	
MPC2	25874	hgsc.bcm.edu	37	1	167889261	167889261	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:167889261G>T	ENST00000367846.4	-	4	501	c.303C>A	c.(301-303)ttC>ttA	p.F101L	MPC2_ENST00000271373.4_Missense_Mutation_p.F101L	NM_015415.3	NP_056230.1	O95563	MPC2_HUMAN	mitochondrial pyruvate carrier 2	101					cellular metabolic process (GO:0044237)|mitochondrial pyruvate transport (GO:0006850)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate transmembrane transporter activity (GO:0050833)	p.F101L(1)									CCCCCACAAAGAAATTAACAG	0.353																																					p.F101L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C303A	1						.						75.0	88.0	83.0					1																	167889261		2203	4300	6503	166155885	SO:0001583	missense	25874	exon5				CCDS1266.1	1q24	2012-07-30	2012-07-30	2012-07-30	ENSG00000143158	ENSG00000143158			24515	protein-coding gene	gene with protein product		614737	"""brain protein 44"""	BRP44		3022128, 22628558	Standard	NM_015415		Approved	DKFZP564B167	uc001get.3	O95563	OTTHUMG00000034570	ENST00000367846.4:c.303C>A	1.37:g.167889261G>T	ENSP00000356820:p.Phe101Leu	Somatic		Capture	SOLID	Phase_I	166155885	NM_001143674	A8K261|Q3SXR6|Q6FIF3	Missense_Mutation	SNP	ENST00000367846.4	37	CCDS1266.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.303373	0.23736	.	.	ENSG00000143158	ENST00000367846;ENST00000271373;ENST00000458574	T;T;T	0.73152	-0.72;-0.72;-0.72	6.07	2.68	0.31781	.	0.000000	0.85682	D	0.000000	T	0.38161	0.1030	L	0.43701	1.375	0.52099	D	0.999943	B	0.12013	0.005	B	0.14578	0.011	T	0.12372	-1.0550	9	0.13108	T	0.6	-9.4359	9.8495	0.41048	0.3117:0.0:0.6883:0.0	.	101	O95563	BR44_HUMAN	L	101	ENSP00000356820:F101L;ENSP00000271373:F101L;ENSP00000392874:F101L	ENSP00000271373:F101L	F	-	3	2	BRP44	166155885	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.166000	0.42406	0.852000	0.35287	0.650000	0.86243	TTC		0.353	MPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083652.1	NM_015415	
F5	2153	hgsc.bcm.edu	37	1	169505867	169505867	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:169505867C>A	ENST00000367797.3	-	14	5049	c.4848G>T	c.(4846-4848)aaG>aaT	p.K1616N	F5_ENST00000367796.3_Missense_Mutation_p.K1621N	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1616	F5/8 type A 3.|Plastocyanin-like 5.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.K1616N(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AAACTACTTTCTTATATGTGG	0.363																																					p.K1616N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4848T	1						.						90.0	91.0	90.0					1																	169505867		2203	4300	6503	167772491	SO:0001583	missense	2153	exon14			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4848G>T	1.37:g.169505867C>A	ENSP00000356771:p.Lys1616Asn	Somatic		Capture	SOLID	Phase_I	167772491	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.161220	0.57368	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99201	-5.55;-5.55	5.0	3.02	0.34903	Cupredoxin (2);	0.234953	0.42821	D	0.000645	D	0.98717	0.9569	M	0.88704	2.975	0.32533	N	0.534665	D	0.65815	0.995	D	0.66716	0.946	D	0.98821	1.0747	9	0.72032	D	0.01	-23.4385	2.7139	0.05182	0.1996:0.4027:0.0:0.3977	.	1616	P12259	FA5_HUMAN	N	1616;1621	ENSP00000356771:K1616N;ENSP00000356770:K1621N	ENSP00000356770:K1621N	K	-	3	2	F5	167772491	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	0.638000	0.24674	1.147000	0.42369	0.655000	0.94253	AAG		0.363	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	
FMO3	2328	hgsc.bcm.edu	37	1	171077319	171077319	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:171077319C>T	ENST00000367755.4	+	5	695	c.584C>T	c.(583-585)tCg>tTg	p.S195L	FMO3_ENST00000542847.1_Missense_Mutation_p.S175L|FMO3_ENST00000392085.2_Missense_Mutation_p.S195L|FMO3_ENST00000538429.1_Missense_Mutation_p.S132L	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	195					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)	p.S195L(1)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	CTGGGGAATTCGGGCTGTGAT	0.498																																					p.S195L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C584T	1						.						119.0	120.0	120.0					1																	171077319		2203	4300	6503	169343943	SO:0001583	missense	2328	exon5			BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.584C>T	1.37:g.171077319C>T	ENSP00000356729:p.Ser195Leu	Somatic		Capture	SOLID	Phase_I	169343943	NM_006894	B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738566	0.69304	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	5.08	4.17	0.49024	.	0.061993	0.64402	D	0.000002	T	0.67720	0.2923	H	0.98802	4.335	0.48236	D	0.999614	B;P;P	0.35821	0.439;0.467;0.523	B;B;B	0.40940	0.086;0.233;0.344	T	0.75706	-0.3224	10	0.87932	D	0	-5.106	10.4416	0.44469	0.0:0.8397:0.0:0.1603	.	132;175;195	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	L	195;195;175;132	ENSP00000356729:S195L;ENSP00000375935:S195L;ENSP00000444073:S175L;ENSP00000439500:S132L	ENSP00000356729:S195L	S	+	2	0	FMO3	169343943	1.000000	0.71417	0.595000	0.28798	0.940000	0.58332	7.814000	0.86154	1.110000	0.41699	0.563000	0.77884	TCG		0.498	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894	
FMO4	2329	hgsc.bcm.edu	37	1	171310800	171310800	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:171310800G>A	ENST00000367749.3	+	10	1829	c.1499G>A	c.(1498-1500)cGa>cAa	p.R500Q		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	500					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.R500Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TTAAAAACTCGAATTGTCCCT	0.478																																					p.R500Q	Pancreas(24;816 862 7754 7993 32832)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1499A	1						.						71.0	66.0	68.0					1																	171310800		2203	4300	6503	169577424	SO:0001583	missense	2329	exon10			BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.1499G>A	1.37:g.171310800G>A	ENSP00000356723:p.Arg500Gln	Somatic		Capture	SOLID	Phase_I	169577424	NM_002022	Q53XR0	Missense_Mutation	SNP	ENST00000367749.3	37	CCDS1295.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101223	0.76983	.	.	ENSG00000076258	ENST00000367749	T	0.62941	-0.01	5.76	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.76183	0.3952	M	0.87381	2.88	0.44092	D	0.996852	D	0.89917	1.0	D	0.70716	0.97	T	0.82125	-0.0612	10	0.87932	D	0	-7.2146	14.2063	0.65737	0.0718:0.0:0.9282:0.0	.	500	P31512	FMO4_HUMAN	Q	500	ENSP00000356723:R500Q	ENSP00000356723:R500Q	R	+	2	0	FMO4	169577424	1.000000	0.71417	0.663000	0.29738	0.356000	0.29392	7.082000	0.76851	1.429000	0.47314	0.655000	0.94253	CGA		0.478	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022	
SUCO	51430	hgsc.bcm.edu	37	1	172579168	172579168	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:172579168T>G	ENST00000263688.3	+	24	3753	c.3534T>G	c.(3532-3534)ttT>ttG	p.F1178L	SUCO_ENST00000610051.1_Missense_Mutation_p.F807L|SUCO_ENST00000608151.1_Missense_Mutation_p.F1330L|SUCO_ENST00000367723.4_Missense_Mutation_p.F1329L	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	1178					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)		p.F1178L(1)|p.F1330L(1)									AGTCCTATTTTTGTGGCATTT	0.398																																					p.F1134L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T3402G	1						.						95.0	92.0	93.0					1																	172579168		2203	4300	6503	170845791	SO:0001583	missense	51430	exon22			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.3534T>G	1.37:g.172579168T>G	ENSP00000263688:p.Phe1178Leu	Somatic		Capture	SOLID	Phase_I	170845791	NM_016227	B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.487851	0.44249	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.56	3.22	0.36961	.	0.254298	0.41823	D	0.000804	T	0.37489	0.1005	M	0.65975	2.015	0.38079	D	0.936613	P;P;P	0.49447	0.9;0.924;0.858	P;B;B	0.44860	0.462;0.365;0.365	T	0.38950	-0.9637	9	0.62326	D	0.03	-19.1982	7.5494	0.27786	0.0:0.3088:0.0:0.6912	.	807;1330;1178	B4DYM4;Q5H945;Q9UBS9	.;.;OSPT_HUMAN	L	1330;1178	.	ENSP00000263688:F1178L	F	+	3	2	C1orf9	170845791	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.503000	0.22610	0.951000	0.37770	0.528000	0.53228	TTT		0.398	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227	
ASTN1	460	hgsc.bcm.edu	37	1	177133596	177133596	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:177133596C>T	ENST00000367654.3	-	1	428	c.217G>A	c.(217-219)Gac>Aac	p.D73N	ASTN1_ENST00000424564.2_Missense_Mutation_p.D73N|ASTN1_ENST00000361833.2_Missense_Mutation_p.D73N|ASTN1_ENST00000367657.3_Missense_Mutation_p.D73N|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	73					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.D73N(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						CCCGGGAAGTCGTTGCGCACC	0.662																																					p.D73N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G217A	1						.						63.0	52.0	56.0					1																	177133596		2203	4300	6503	175400219	SO:0001583	missense	460	exon1			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.217G>A	1.37:g.177133596C>T	ENSP00000356626:p.Asp73Asn	Somatic		Capture	SOLID	Phase_I	175400219	NM_207108	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37		.	.	.	.	.	.	.	.	.	.	C	28.7	4.941948	0.92526	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.19532	2.14;2.55;2.55;2.14	2.94	2.94	0.34122	.	0.176670	0.33477	U	0.004870	T	0.38772	0.1053	L	0.50333	1.59	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.77557	0.99;0.99;0.982	T	0.36915	-0.9728	10	0.87932	D	0	-21.142	13.9229	0.63942	0.0:1.0:0.0:0.0	.	73;73;73	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	N	73	ENSP00000356629:D73N;ENSP00000354536:D73N;ENSP00000356626:D73N;ENSP00000395041:D73N	ENSP00000354536:D73N	D	-	1	0	ASTN1	175400219	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.204000	0.77872	1.659000	0.50751	0.385000	0.25706	GAC		0.662	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319	
TDRD5	163589	hgsc.bcm.edu	37	1	179631396	179631396	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:179631396C>A	ENST00000367614.1	+	14	2677	c.2318C>A	c.(2317-2319)tCa>tAa	p.S773*	TDRD5_ENST00000444136.1_Nonsense_Mutation_p.S827*|TDRD5_ENST00000294848.8_Nonsense_Mutation_p.S773*	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	773					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.S773*(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AATCAGTATTCATCATGTAAA	0.463																																					p.S827X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2480A	1						.						80.0	74.0	76.0					1																	179631396		2203	4300	6503	177898019	SO:0001587	stop_gained	163589	exon15			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2318C>A	1.37:g.179631396C>A	ENSP00000356586:p.Ser773*	Somatic		Capture	SOLID	Phase_I	177898019	NM_001199085	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Nonsense_Mutation	SNP	ENST00000367614.1	37	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	C	38	6.958341	0.97964	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	.	.	.	4.4	-1.75	0.08031	.	1.830420	0.02656	N	0.107006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-13.7433	2.8256	0.05484	0.3495:0.3151:0.0:0.3355	.	.	.	.	X	773;773;827;283	.	ENSP00000294848:S773X	S	+	2	0	TDRD5	177898019	0.000000	0.05858	0.000000	0.03702	0.436000	0.31835	-0.577000	0.05847	-0.100000	0.12241	0.650000	0.86243	TCA		0.463	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533	
APOBEC4	403314	hgsc.bcm.edu	37	1	183617325	183617325	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:183617325G>T	ENST00000308641.4	-	2	863	c.592C>A	c.(592-594)Ctc>Atc	p.L198I	RGL1_ENST00000304685.4_Intron|RGL1_ENST00000536277.1_Intron|APOBEC4_ENST00000481562.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	198					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)	p.L198I(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						AAGCTGTGGAGAACAGAATGC	0.512																																					p.L198I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C592A	1						.						63.0	65.0	65.0					1																	183617325		2203	4300	6503	181883948	SO:0001583	missense	403314	exon2			BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"""Apolipoprotein B mRNA editing enzymes"""	32152	protein-coding gene	gene with protein product		609908	"""chromosome 1 open reading frame 169"""	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.592C>A	1.37:g.183617325G>T	ENSP00000310622:p.Leu198Ile	Somatic		Capture	SOLID	Phase_I	181883948	NM_203454	Q8N7F6	Missense_Mutation	SNP	ENST00000308641.4	37	CCDS1358.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775591	0.49786	.	.	ENSG00000173627	ENST00000308641	T	0.68479	-0.33	5.15	5.15	0.70609	.	0.000000	0.52532	D	0.000075	T	0.75221	0.3820	L	0.34521	1.04	0.40361	D	0.979246	D	0.89917	1.0	D	0.87578	0.998	T	0.78119	-0.2328	10	0.59425	D	0.04	-28.8964	18.2232	0.89907	0.0:0.0:1.0:0.0	.	198	Q8WW27	ABEC4_HUMAN	I	198	ENSP00000310622:L198I	ENSP00000310622:L198I	L	-	1	0	APOBEC4	181883948	1.000000	0.71417	0.993000	0.49108	0.148000	0.21650	6.181000	0.71988	2.398000	0.81561	0.655000	0.94253	CTC		0.512	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454	
SWT1	54823	hgsc.bcm.edu	37	1	185144058	185144058	+	Missense_Mutation	SNP	C	C	T	rs186283787		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:185144058C>T	ENST00000367500.4	+	5	944	c.779C>T	c.(778-780)tCg>tTg	p.S260L	SWT1_ENST00000367501.3_Missense_Mutation_p.S260L	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	260								p.S260L(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TCTAATAATTCGAAGACTAAG	0.353																																					p.S260L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C779T	1						.						61.0	68.0	66.0					1																	185144058		2202	4300	6502	183410681	SO:0001583	missense	54823	exon5			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.779C>T	1.37:g.185144058C>T	ENSP00000356470:p.Ser260Leu	Somatic		Capture	SOLID	Phase_I	183410681	NM_001105518	Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	CCDS1367.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.758	1.169275	0.21621	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.20332	2.08;2.08	5.67	-1.34	0.09143	.	1.148500	0.06503	N	0.736689	T	0.16811	0.0404	L	0.40543	1.245	0.09310	N	1	B	0.15719	0.014	B	0.06405	0.002	T	0.31696	-0.9934	10	0.48119	T	0.1	.	6.5455	0.22404	0.0:0.4844:0.2178:0.2978	.	260	Q5T5J6	SWT1_HUMAN	L	260	ENSP00000356471:S260L;ENSP00000356470:S260L	ENSP00000356470:S260L	S	+	2	0	SWT1	183410681	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.058000	0.11750	-0.884000	0.03976	-1.847000	0.00572	TCG		0.353	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673	
PRG4	10216	hgsc.bcm.edu	37	1	186266075	186266075	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:186266075C>A	ENST00000445192.2	+	2	113	c.68C>A	c.(67-69)tCa>tAa	p.S23*	PRG4_ENST00000367485.4_Nonsense_Mutation_p.S23*|PRG4_ENST00000367486.3_Nonsense_Mutation_p.S23*|PRG4_ENST00000367484.3_Nonsense_Mutation_p.S23*|PRG4_ENST00000367483.4_Nonsense_Mutation_p.S23*	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	23					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.S23*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAGCAAGTTTCATCTCAAGGT	0.358																																					p.S23X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C68A	1						.						197.0	148.0	165.0					1																	186266075		2203	4300	6503	184532698	SO:0001587	stop_gained	10216	exon2			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.68C>A	1.37:g.186266075C>A	ENSP00000399679:p.Ser23*	Somatic		Capture	SOLID	Phase_I	184532698	NM_001127709	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Nonsense_Mutation	SNP	ENST00000445192.2	37	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	C	34	5.296383	0.95574	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000533951;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	.	.	.	5.8	5.8	0.92144	.	0.000000	0.40640	U	0.001051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.4396	14.0179	0.64536	0.1506:0.8494:0.0:0.0	.	.	.	.	X	23	.	ENSP00000356452:S23X	S	+	2	0	PRG4	184532698	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	3.128000	0.50492	2.741000	0.93983	0.585000	0.79938	TCA		0.358	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807	
TAS1R2	80834	hgsc.bcm.edu	37	1	19175857	19175857	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:19175857G>A	ENST00000375371.3	-	4	1466	c.1445C>T	c.(1444-1446)tCc>tTc	p.S482F	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	482					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.S482F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GGTGTGCCAGGAGATGTCTTG	0.637																																					p.S482F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1445T	1						.						88.0	77.0	81.0					1																	19175857		2203	4300	6503	19048444	SO:0001583	missense	80834	exon4				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1445C>T	1.37:g.19175857G>A	ENSP00000364520:p.Ser482Phe	Somatic		Capture	SOLID	Phase_I	19048444	NM_152232	Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	CCDS187.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544786	0.45280	.	.	ENSG00000179002	ENST00000375371	D	0.85955	-2.05	4.4	4.4	0.53042	.	0.147329	0.31636	N	0.007309	D	0.83083	0.5177	N	0.19112	0.55	0.30650	N	0.755472	D	0.69078	0.997	D	0.67725	0.953	T	0.75744	-0.3210	10	0.10377	T	0.69	.	12.3248	0.55005	0.0:0.0:1.0:0.0	.	482	Q8TE23	TS1R2_HUMAN	F	482	ENSP00000364520:S482F	ENSP00000364520:S482F	S	-	2	0	TAS1R2	19048444	0.493000	0.26035	1.000000	0.80357	0.319000	0.28217	0.251000	0.18257	2.275000	0.75901	0.561000	0.74099	TCC		0.637	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1		
PDC	5132	hgsc.bcm.edu	37	1	186415692	186415692	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:186415692T>G	ENST00000391997.2	-	3	166	c.79A>C	c.(79-81)Aat>Cat	p.N27H	PDC_ENST00000456239.2_5'Flank|PDC_ENST00000497198.1_5'UTR|PDC_ENST00000340129.5_Missense_Mutation_p.N27H	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	27					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of catalytic activity (GO:0043086)|phototransduction (GO:0007602)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	phospholipase inhibitor activity (GO:0004859)	p.N27H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		CTCCAATCATTTATTACTCCT	0.328																																					p.N27H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A79C	1						.						90.0	86.0	87.0					1																	186415692		2203	4300	6503	184682315	SO:0001583	missense	5132	exon3			AF076464	CCDS1370.1, CCDS41447.1	1q25.2	2013-01-08			ENSG00000116703	ENSG00000116703			8759	protein-coding gene	gene with protein product		171490				8288249	Standard	NM_022576		Approved	MEKA	uc001gsa.4	P20941	OTTHUMG00000035575	ENST00000391997.2:c.79A>C	1.37:g.186415692T>G	ENSP00000375855:p.Asn27His	Somatic		Capture	SOLID	Phase_I	184682315	NM_002597	Q14816|Q9UP22|Q9UP23	Missense_Mutation	SNP	ENST00000391997.2	37	CCDS1370.1	.	.	.	.	.	.	.	.	.	.	T	12.11	1.840462	0.32513	.	.	ENSG00000116703	ENST00000391997;ENST00000340129	T;T	0.56444	0.46;0.46	5.36	-0.13	0.13498	Thioredoxin-like fold (1);Phosducin, thioredoxin-like domain (1);Phosducin, domain 2 (1);	0.234215	0.49916	N	0.000124	T	0.39517	0.1081	L	0.28504	0.86	0.80722	D	1	B	0.15473	0.013	B	0.10450	0.005	T	0.16837	-1.0389	10	0.38643	T	0.18	-11.2674	15.4143	0.74952	0.0:0.0:0.6179:0.3821	.	27	P20941	PHOS_HUMAN	H	27	ENSP00000375855:N27H;ENSP00000342033:N27H	ENSP00000342033:N27H	N	-	1	0	PDC	184682315	1.000000	0.71417	0.977000	0.42913	0.912000	0.54170	2.963000	0.49184	-0.283000	0.09115	0.482000	0.46254	AAT		0.328	PDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086347.2	NM_022577	
RGS1	5996	hgsc.bcm.edu	37	1	192548420	192548420	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:192548420C>A	ENST00000367459.3	+	5	664	c.598C>A	c.(598-600)Cta>Ata	p.L200I		NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	200	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|immune response (GO:0006955)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)	p.L187I(1)		kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				CTTAAATCTTCTAAATGACCT	0.418																																					p.L200I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C598A	1						.						54.0	57.0	56.0					1																	192548420		2203	4299	6502	190815043	SO:0001583	missense	5996	exon5			AF493925	CCDS1375.2	1q31	2008-02-05	2007-08-14		ENSG00000090104	ENSG00000090104		"""Regulators of G-protein signaling"""	9991	protein-coding gene	gene with protein product		600323	"""regulator of G-protein signalling 1"""	IER1		8241276, 8602223	Standard	NM_002922		Approved	1R20, IR20, BL34	uc001gsi.1	Q08116	OTTHUMG00000035598	ENST00000367459.3:c.598C>A	1.37:g.192548420C>A	ENSP00000356429:p.Leu200Ile	Somatic		Capture	SOLID	Phase_I	190815043	NM_002922	B2RDM9|B4DZY0|Q07918|Q9H1W2	Missense_Mutation	SNP	ENST00000367459.3	37	CCDS1375.2	.	.	.	.	.	.	.	.	.	.	C	11.96	1.794893	0.31777	.	.	ENSG00000090104	ENST00000367459	T	0.34667	1.35	5.68	5.68	0.88126	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.202536	0.35179	N	0.003393	T	0.32734	0.0839	L	0.52573	1.65	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.06127	-1.0844	10	0.19147	T	0.46	.	14.3484	0.66682	0.0:0.8518:0.1482:0.0	.	200	Q08116	RGS1_HUMAN	I	200	ENSP00000356429:L200I	ENSP00000356429:L200I	L	+	1	2	RGS1	190815043	0.473000	0.25878	0.998000	0.56505	0.992000	0.81027	0.977000	0.29475	2.838000	0.97847	0.591000	0.81541	CTA		0.418	RGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086391.1	NM_002922	
ASPM	259266	hgsc.bcm.edu	37	1	197099113	197099113	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:197099113C>T	ENST00000367409.4	-	8	2817	c.2561G>A	c.(2560-2562)cGc>cAc	p.R854H	ASPM_ENST00000294732.7_Missense_Mutation_p.R854H|ASPM_ENST00000367408.1_Missense_Mutation_p.R104H	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	854					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.R854H(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CCAAAGTAGGCGATTCAGAAT	0.408																																					p.R854H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2561A	1						.						155.0	141.0	146.0					1																	197099113		2203	4300	6503	195365736	SO:0001583	missense	259266	exon8			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.2561G>A	1.37:g.197099113C>T	ENSP00000356379:p.Arg854His	Somatic		Capture	SOLID	Phase_I	195365736	NM_018136	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	35	5.478088	0.96291	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.60920	0.15;0.15;0.15	5.47	5.47	0.80525	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.76997	0.4066	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.76315	-0.3004	10	0.46703	T	0.11	.	19.2852	0.94067	0.0:1.0:0.0:0.0	.	854;854	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	H	854;854;104	ENSP00000356379:R854H;ENSP00000294732:R854H;ENSP00000356378:R104H	ENSP00000294732:R854H	R	-	2	0	ASPM	195365736	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.442000	0.80503	2.708000	0.92522	0.650000	0.86243	CGC		0.408	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
KIF21B	23046	hgsc.bcm.edu	37	1	200972813	200972813	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:200972813C>A	ENST00000422435.2	-	8	1429	c.1113G>T	c.(1111-1113)aaG>aaT	p.K371N	KIF21B_ENST00000332129.2_Missense_Mutation_p.K371N|KIF21B_ENST00000360529.5_Missense_Mutation_p.K371N|KIF21B_ENST00000461742.2_Missense_Mutation_p.K371N	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	371					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K371N(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCACCTTGTTCTTGATGTTGC	0.547																																					p.K371N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1113T	1						.						193.0	150.0	164.0					1																	200972813		2203	4300	6503	199239436	SO:0001583	missense	23046	exon8			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1113G>T	1.37:g.200972813C>A	ENSP00000411831:p.Lys371Asn	Somatic		Capture	SOLID	Phase_I	199239436	NM_017596	B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	c	24.3	4.514733	0.85389	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	5.19	4.27	0.50696	Kinesin, motor domain (2);	0.055037	0.64402	D	0.000001	T	0.80534	0.4641	M	0.86651	2.83	0.80722	D	1	P;P;P;P	0.41848	0.651;0.651;0.608;0.763	B;B;B;P	0.44897	0.273;0.273;0.261;0.463	D	0.83420	0.0032	10	0.87932	D	0	.	12.8342	0.57763	0.0:0.9197:0.0:0.0803	.	371;371;371;371	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	N	371	ENSP00000328494:K371N;ENSP00000353724:K371N;ENSP00000433808:K371N;ENSP00000411831:K371N	ENSP00000328494:K371N	K	-	3	2	KIF21B	199239436	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.054000	0.57434	1.156000	0.42514	0.645000	0.84053	AAG		0.547	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332	
CACNA1S	779	hgsc.bcm.edu	37	1	201063104	201063104	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:201063104C>T	ENST00000362061.3	-	3	530	c.304G>A	c.(304-306)Gcc>Acc	p.A102T	CACNA1S_ENST00000367338.3_Missense_Mutation_p.A102T	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	102					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A102T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ATCTTCATGGCGGCTTCAATC	0.527																																					p.A102T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G304A	1						.						93.0	92.0	93.0					1																	201063104		2203	4300	6503	199329727	SO:0001583	missense	779	exon3			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.304G>A	1.37:g.201063104C>T	ENSP00000355192:p.Ala102Thr	Somatic		Capture	SOLID	Phase_I	199329727	NM_000069	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423052	0.43020	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98474	-4.95;-4.95	4.42	3.5	0.40072	Ion transport (1);	0.544455	0.08080	U	1.000000	D	0.94941	0.8364	L	0.33137	0.985	0.24712	N	0.993199	B	0.31769	0.339	B	0.27608	0.081	D	0.90514	0.4483	10	0.46703	T	0.11	.	5.1972	0.15245	0.164:0.6453:0.0:0.1907	.	102	Q13698	CAC1S_HUMAN	T	102	ENSP00000355192:A102T;ENSP00000356307:A102T	ENSP00000355192:A102T	A	-	1	0	CACNA1S	199329727	0.501000	0.26099	0.911000	0.35937	0.966000	0.64601	1.105000	0.31086	0.980000	0.38523	0.555000	0.69702	GCC		0.527	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	
CNTN2	6900	hgsc.bcm.edu	37	1	205034384	205034384	+	Silent	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:205034384T>G	ENST00000331830.4	+	13	1973	c.1689T>G	c.(1687-1689)acT>acG	p.T563T	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	563	Ig-like C2-type 6.				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.T563T(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)			ACCGGAGAACTAATGTGGTGA	0.577																																					p.T563T	Melanoma(183;2548 2817 37099 41192)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1689G	1						.						114.0	111.0	112.0					1																	205034384		2203	4300	6503	203301007	SO:0001819	synonymous_variant	6900	exon13			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.1689T>G	1.37:g.205034384T>G		Somatic		Capture	SOLID	Phase_I	203301007	NM_005076	P78432|Q5T054	Silent	SNP	ENST00000331830.4	37	CCDS1449.1																																																																																				0.577	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076	
TMEM81	388730	hgsc.bcm.edu	37	1	205052952	205052952	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:205052952T>G	ENST00000367167.3	-	1	693	c.497A>C	c.(496-498)aAa>aCa	p.K166T		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	166	Ig-like.					integral component of membrane (GO:0016021)		p.K166T(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TCTCAAGTTTTTTACCAGCTG	0.443																																					p.K166T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A497C	1						.						75.0	79.0	77.0					1																	205052952		2203	4300	6503	203319575	SO:0001583	missense	388730	exon1			BC061592	CCDS1450.1	1q32.1	2013-01-11			ENSG00000174529	ENSG00000174529		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32349	protein-coding gene	gene with protein product							Standard	NM_203376		Approved	UNQ2788, MGC75217, HC3107, KVLA2788	uc001hbt.3	Q6P7N7	OTTHUMG00000037103	ENST00000367167.3:c.497A>C	1.37:g.205052952T>G	ENSP00000356135:p.Lys166Thr	Somatic		Capture	SOLID	Phase_I	203319575	NM_203376	Q6UVZ4	Missense_Mutation	SNP	ENST00000367167.3	37	CCDS1450.1	.	.	.	.	.	.	.	.	.	.	T	15.40	2.823133	0.50739	.	.	ENSG00000174529	ENST00000367167	T	0.34859	1.34	5.93	0.836	0.18891	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.373533	0.29638	N	0.011593	T	0.42337	0.1198	L	0.48362	1.52	0.23445	N	0.997662	D	0.63046	0.992	P	0.59357	0.856	T	0.25398	-1.0133	10	0.36615	T	0.2	-28.1981	9.3232	0.37977	0.0:0.3632:0.0:0.6368	.	166	Q6P7N7	TMM81_HUMAN	T	166	ENSP00000356135:K166T	ENSP00000356135:K166T	K	-	2	0	TMEM81	203319575	0.033000	0.19621	0.767000	0.31495	0.918000	0.54935	-0.425000	0.07017	0.146000	0.19002	0.533000	0.62120	AAA		0.443	TMEM81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090076.1	NM_203376	
IL10	3586	hgsc.bcm.edu	37	1	206944270	206944270	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:206944270C>T	ENST00000423557.1	-	3	418	c.360G>A	c.(358-360)agG>agA	p.R120R	IL10_ENST00000471071.1_5'UTR	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	120					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|defense response to bacterium (GO:0042742)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|leukocyte chemotaxis (GO:0030595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of chronic inflammatory response to antigenic stimulus (GO:0002875)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interferon-alpha biosynthetic process (GO:0045355)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of myeloid dendritic cell activation (GO:0030886)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor biosynthetic process (GO:0032800)|regulation of gene expression (GO:0010468)|regulation of isotype switching (GO:0045191)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to carbon monoxide (GO:0034465)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to inactivity (GO:0014854)|response to insulin (GO:0032868)|response to molecule of bacterial origin (GO:0002237)|type 2 immune response (GO:0042092)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-10 receptor binding (GO:0005141)	p.R120R(1)		endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GTAGCCTCAGCCTGAGGGTCT	0.547																																					p.R120R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G360A	1						.						136.0	130.0	132.0					1																	206944270		2203	4300	6503	205010893	SO:0001819	synonymous_variant	3586	exon3			M57627	CCDS1467.1	1q31-q32	2011-07-14			ENSG00000136634	ENSG00000136634		"""Interleukins and interleukin receptors"""	5962	protein-coding gene	gene with protein product	"""cytokine synthesis inhibitory factor"", ""T-cell growth inhibitory factor"""	124092				9162098	Standard	NM_000572		Approved	CSIF, TGIF, IL10A, IL-10	uc001hen.1	P22301	OTTHUMG00000036386	ENST00000423557.1:c.360G>A	1.37:g.206944270C>T		Somatic		Capture	SOLID	Phase_I	205010893	NM_000572		Silent	SNP	ENST00000423557.1	37	CCDS1467.1																																																																																				0.547	IL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088564.3	NM_000572	
CAMK1G	57172	hgsc.bcm.edu	37	1	209773346	209773346	+	Silent	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:209773346T>G	ENST00000009105.1	+	3	356	c.111T>G	c.(109-111)gtT>gtG	p.V37V	CAMK1G_ENST00000361322.2_Silent_p.V37V			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	37	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.V37V(1)		breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		TCTCAGAAGTTTTCCTGGTGA	0.478																																					p.V37V	Ovarian(163;530 1939 9680 28669 48710)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T111G	1						.						68.0	69.0	69.0					1																	209773346		2203	4300	6503	207839969	SO:0001819	synonymous_variant	57172	exon3				CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.111T>G	1.37:g.209773346T>G		Somatic		Capture	SOLID	Phase_I	207839969	NM_020439	Q86UH5|Q9Y3J7	Silent	SNP	ENST00000009105.1	37	CCDS1486.1																																																																																				0.478	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439	
HHAT	55733	hgsc.bcm.edu	37	1	210847701	210847701	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:210847701C>A	ENST00000367010.1	+	12	1689	c.1462C>A	c.(1462-1464)Cag>Aag	p.Q488K	HHAT_ENST00000413764.2_Missense_Mutation_p.Q488K|HHAT_ENST00000545154.1_Missense_Mutation_p.Q489K|HHAT_ENST00000308852.6_Missense_Mutation_p.Q443K|HHAT_ENST00000545781.1_Missense_Mutation_p.Q425K|HHAT_ENST00000541565.1_Missense_Mutation_p.Q351K|HHAT_ENST00000537898.1_Missense_Mutation_p.Q423K|HHAT_ENST00000261458.3_Missense_Mutation_p.Q488K|HHAT_ENST00000367009.1_Missense_Mutation_p.Q178K	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	488					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)	p.Q488K(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TGCCTGGGCCCAGACCTACGC	0.602																																					p.Q488K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1462A	1						.						107.0	86.0	93.0					1																	210847701		2203	4300	6503	208914324	SO:0001583	missense	55733	exon12			AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.1462C>A	1.37:g.210847701C>A	ENSP00000355977:p.Gln488Lys	Somatic		Capture	SOLID	Phase_I	208914324	NM_001122834	B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676757	0.47886	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000367009	T;T;T;T;T;T;T;T;T	0.41400	2.31;1.0;2.26;2.31;2.31;2.31;2.31;2.31;1.01	5.51	4.53	0.55603	.	.	.	.	.	T	0.28134	0.0694	N	0.22421	0.69	0.29994	N	0.816629	B;B;B;B;B	0.25272	0.075;0.122;0.043;0.043;0.063	B;B;B;B;B	0.25291	0.027;0.059;0.027;0.027;0.039	T	0.07102	-1.0790	9	0.10111	T	0.7	.	13.2141	0.59849	0.0:0.8404:0.1596:0.0	.	443;489;351;423;488	B7Z2U8;F5H444;B7Z4D5;B7Z5I1;Q5VTY9	.;.;.;.;HHAT_HUMAN	K	488;351;489;423;425;488;443;488;178	ENSP00000416845:Q488K;ENSP00000444995:Q351K;ENSP00000438468:Q489K;ENSP00000442625:Q423K;ENSP00000439229:Q425K;ENSP00000261458:Q488K;ENSP00000308628:Q443K;ENSP00000355977:Q488K;ENSP00000355976:Q178K	ENSP00000261458:Q488K	Q	+	1	0	HHAT	208914324	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	1.608000	0.36847	2.736000	0.93811	0.655000	0.94253	CAG		0.602	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194	
SMYD2	56950	hgsc.bcm.edu	37	1	214503554	214503554	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:214503554G>T	ENST00000366957.5	+	8	771	c.749G>T	c.(748-750)aGa>aTa	p.R250I	SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Missense_Mutation_p.R250I	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	250					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)	p.R250I(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		ACGGAAGATAGAAATGACCGG	0.443																																					p.R250I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G749T	1						.						98.0	88.0	91.0					1																	214503554		2203	4300	6503	212570177	SO:0001583	missense	56950	exon8			AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.749G>T	1.37:g.214503554G>T	ENSP00000355924:p.Arg250Ile	Somatic		Capture	SOLID	Phase_I	212570177	NM_020197	B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Missense_Mutation	SNP	ENST00000366957.5	37	CCDS31022.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026559	0.93518	.	.	ENSG00000143499	ENST00000366957;ENST00000415093	T;T	0.14766	2.48;2.48	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.40423	0.1116	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.17410	-1.0370	10	0.87932	D	0	0.8687	17.8701	0.88808	0.0:0.0:1.0:0.0	.	250;234	Q9NRG4;Q05C86	SMYD2_HUMAN;.	I	250	ENSP00000355924:R250I;ENSP00000388682:R250I	ENSP00000355924:R250I	R	+	2	0	SMYD2	212570177	1.000000	0.71417	0.984000	0.44739	0.913000	0.54294	9.476000	0.97823	2.644000	0.89710	0.591000	0.81541	AGA		0.443	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1	NM_020197	
CENPF	1063	hgsc.bcm.edu	37	1	214791996	214791996	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:214791996A>C	ENST00000366955.3	+	4	608	c.440A>C	c.(439-441)aAa>aCa	p.K147T		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.K147T(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ACACCACAAAAAATTTTTACA	0.373																																					p.K147T	Colon(80;575 1284 11000 14801 43496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A440C	1						.						79.0	81.0	81.0					1																	214791996		2203	4300	6503	212858619	SO:0001583	missense	1063	exon4			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.440A>C	1.37:g.214791996A>C	ENSP00000355922:p.Lys147Thr	Somatic		Capture	SOLID	Phase_I	212858619	NM_016343	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	18.71	3.682665	0.68157	.	.	ENSG00000117724	ENST00000366955	T	0.29655	1.56	5.42	5.42	0.78866	Centromere protein Cenp-F, N-terminal (1);	0.000000	0.39407	N	0.001364	T	0.52256	0.1723	.	.	.	0.38121	D	0.937853	D	0.76494	0.999	D	0.73708	0.981	T	0.60311	-0.7288	9	0.66056	D	0.02	.	9.5999	0.39598	0.921:0.0:0.079:0.0	.	147	P49454	CENPF_HUMAN	T	147	ENSP00000355922:K147T	ENSP00000355922:K147T	K	+	2	0	CENPF	212858619	0.998000	0.40836	0.919000	0.36401	0.834000	0.47266	2.652000	0.46682	2.172000	0.68678	0.482000	0.46254	AAA		0.373	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
MARK1	4139	hgsc.bcm.edu	37	1	220835343	220835343	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:220835343C>A	ENST00000366917.4	+	18	2489	c.2223C>A	c.(2221-2223)ttC>ttA	p.F741L	MARK1_ENST00000366918.4_Missense_Mutation_p.F704L|RP11-322F10.2_ENST00000446040.1_RNA|MARK1_ENST00000402574.1_Missense_Mutation_p.F591L					MAP/microtubule affinity-regulating kinase 1									p.F741L(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TTTTGCTTTTCTGTGTCCATG	0.443																																					p.F741L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2223A	1						.						130.0	128.0	129.0					1																	220835343		2203	4300	6503	218901966	SO:0001583	missense	4139	exon18			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.2223C>A	1.37:g.220835343C>A	ENSP00000355884:p.Phe741Leu	Somatic		Capture	SOLID	Phase_I	218901966	NM_018650		Missense_Mutation	SNP	ENST00000366917.4	37	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	C	6.807	0.517947	0.13005	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.54866	0.55;0.55;0.55	6.16	6.16	0.99307	Kinase-associated KA1 (2);	0.000000	0.85682	D	0.000000	T	0.34337	0.0894	N	0.04959	-0.14	0.58432	D	0.999998	B;B;B;B	0.11235	0.001;0.001;0.004;0.003	B;B;B;B	0.12837	0.007;0.008;0.006;0.005	T	0.27806	-1.0063	10	0.10111	T	0.7	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	726;591;741;704	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	L	591;704;741	ENSP00000386017:F591L;ENSP00000355885:F704L;ENSP00000355884:F741L	ENSP00000355884:F741L	F	+	3	2	MARK1	218901966	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	TTC		0.443	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1		
CNIH3	149111	hgsc.bcm.edu	37	1	224872541	224872541	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:224872541G>A	ENST00000272133.3	+	3	1076	c.194G>A	c.(193-195)cGa>cAa	p.R65Q		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	65					intracellular signal transduction (GO:0035556)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|postsynaptic membrane (GO:0045211)	channel regulator activity (GO:0016247)	p.R65Q(1)		large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		TTCCTTCTGCGAAAGGTCAGT	0.542																																					p.R65Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G194A	1						.						192.0	151.0	165.0					1																	224872541		2203	4300	6503	222939164	SO:0001583	missense	149111	exon3			AF070524	CCDS1544.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143786	ENSG00000143786			26802	protein-coding gene	gene with protein product			"""cornichon homolog 3 (Drosophila)"""			8619474, 9110174	Standard	NM_152495		Approved	FLJ38993, CNIH-3	uc001hos.1	Q8TBE1	OTTHUMG00000037634	ENST00000272133.3:c.194G>A	1.37:g.224872541G>A	ENSP00000272133:p.Arg65Gln	Somatic		Capture	SOLID	Phase_I	222939164	NM_152495		Missense_Mutation	SNP	ENST00000272133.3	37	CCDS1544.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584107	0.65992	.	.	ENSG00000143786	ENST00000272133	T	0.41400	1.0	4.49	3.58	0.41010	.	0.068484	0.56097	U	0.000030	T	0.32496	0.0831	L	0.36672	1.1	0.40245	D	0.978008	P	0.42337	0.776	B	0.38156	0.266	T	0.20874	-1.0262	10	0.72032	D	0.01	-13.4186	11.5107	0.50492	0.0902:0.0:0.9098:0.0	.	65	Q8TBE1	CNIH3_HUMAN	Q	65	ENSP00000272133:R65Q	ENSP00000272133:R65Q	R	+	2	0	CNIH3	222939164	1.000000	0.71417	0.991000	0.47740	0.984000	0.73092	4.940000	0.63533	0.892000	0.36259	0.551000	0.68910	CGA		0.542	CNIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091752.2	NM_152495	
COG2	22796	hgsc.bcm.edu	37	1	230795218	230795218	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:230795218C>T	ENST00000366669.4	+	2	196	c.81C>T	c.(79-81)ttC>ttT	p.F27F	COG2_ENST00000534989.1_5'UTR|COG2_ENST00000366668.3_Silent_p.F27F|COG2_ENST00000535166.1_5'UTR	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	27					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.F27F(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)				AGGAAGATTTCGATGTCGATC	0.378																																					p.F27F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C81T	1						.						72.0	77.0	75.0					1																	230795218		2203	4300	6503	228861841	SO:0001819	synonymous_variant	22796	exon2			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.81C>T	1.37:g.230795218C>T		Somatic		Capture	SOLID	Phase_I	228861841	NM_007357	Q86U99	Silent	SNP	ENST00000366669.4	37	CCDS1584.1																																																																																				0.378	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357	
COG2	22796	hgsc.bcm.edu	37	1	230805103	230805103	+	Splice_Site	SNP	G	G	A	rs147719039		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:230805103G>A	ENST00000366669.4	+	7	711	c.596G>A	c.(595-597)cGt>cAt	p.R199H	COG2_ENST00000534989.1_Splice_Site_p.R140H|COG2_ENST00000366668.3_Splice_Site_p.R199H|COG2_ENST00000535166.1_Splice_Site_p.R83H	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	199					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.R199H(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)				TTCTTGCAGCGTATAGCTGGC	0.418																																					p.R199H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G596A	1						.	G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	109.0	107.0	107.0		596,596	5.5	1.0	1	dbSNP_134	107	0,8600		0,0,4300	no	missense-near-splice,missense-near-splice	COG2	NM_001145036.1,NM_007357.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	199/738,199/739	230805103	1,13005	2203	4300	6503	228871726	SO:0001630	splice_region_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.595-1G>A	1.37:g.230805103G>A		Somatic		Capture	SOLID	Phase_I	228871726	NM_007357	Q86U99	Missense_Mutation	SNP	ENST00000366669.4	37	CCDS1584.1	.	.	.	.	.	.	.	.	.	.	G	33	5.222944	0.95139	2.27E-4	0.0	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.61874	0.2382	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.66991	-0.5783	10	0.87932	D	0	-13.1793	19.2959	0.94122	0.0:0.0:1.0:0.0	.	199;199	Q86U99;Q14746	.;COG2_HUMAN	H	199;83;199;140	ENSP00000355629:R199H;ENSP00000445724:R83H;ENSP00000355628:R199H;ENSP00000440349:R140H	ENSP00000355628:R199H	R	+	2	0	COG2	228871726	1.000000	0.71417	0.987000	0.45799	0.862000	0.49288	9.579000	0.98204	2.564000	0.86499	0.655000	0.94253	CGT		0.418	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357	Missense_Mutation
AGT	183	hgsc.bcm.edu	37	1	230845794	230845794	+	Missense_Mutation	SNP	A	A	G	rs699	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:230845794A>G	ENST00000366667.4	-	2	1017	c.803T>C	c.(802-804)aTg>aCg	p.M268T	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	268			M -> I (in dbSNP:rs11568053).|M -> T (associated with essential hypertension and pre-eclampsia; dbSNP:rs699). {ECO:0000269|PubMed:1394429, ECO:0000269|PubMed:8513325}.		activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ACTGGCTCCCATCAGGGAGCA	0.547													G|||	3531	0.705072	0.9032	0.6354	5008	,	,		18819	0.8532		0.4115	False		,,,				2504	0.636				p.M268T												.	.	0			c.T803C	1	GRCh37	CM920010	AGT	M	rs699	.	G	THR/MET	3643,763	308.8+/-290.8	1504,635,64	82.0	91.0	88.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	803	-0.4	0.0	1	dbSNP_36	88	3662,4938	620.8+/-397.1	801,2060,1439	yes	missense	AGT	NM_000029.3	81	2305,2695,1503	GG,GA,AA		42.5814,17.3173,43.8336	benign	268/486	230845794	7305,5701	2203	4300	6503	228912417	SO:0001583	missense	183	exon2			K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.803T>C	1.37:g.230845794A>G	ENSP00000355627:p.Met268Thr	Somatic		Capture	SOLID	Phase_I	228912417	NM_000029	Q16358|Q16359|Q96F91	Missense_Mutation	SNP	ENST00000366667.4	37	CCDS1585.1	1446	0.6620879120879121	427	0.8678861788617886	230	0.6353591160220995	479	0.8374125874125874	310	0.40897097625329815	G	0.001	-2.932260	0.00053	0.826827	0.425814	ENSG00000135744	ENST00000366667;ENST00000430091	D	0.86694	-2.16	5.1	-0.372	0.12520	Serpin domain (3);	0.941754	0.08896	N	0.877893	T	0.00012	0.0000	N	0.00483	-1.445	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.32481	-0.9905	9	0.10636	T	0.68	.	5.2545	0.15540	0.2662:0.0:0.5073:0.2265	rs699;rs4714;rs3182295;rs17856353;rs61617185;rs699	268;268;268	B0ZBE2;B2R5S1;P01019	.;.;ANGT_HUMAN	T	268;186	ENSP00000355627:M268T	ENSP00000355627:M268T	M	-	2	0	AGT	228912417	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.431000	0.21444	-0.242000	0.09667	-0.733000	0.03571	ATG		0.547	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029	
TTC13	79573	hgsc.bcm.edu	37	1	231069546	231069546	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:231069546T>G	ENST00000366661.4	-	9	969	c.962A>C	c.(961-963)aAa>aCa	p.K321T	TTC13_ENST00000414259.1_Missense_Mutation_p.K268T|TTC13_ENST00000366662.4_Missense_Mutation_p.K268T	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	321								p.K321T(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CCCTAGACTTTTATATGCATC	0.343																																					p.K321T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A962C	1						.						71.0	74.0	73.0					1																	231069546		2203	4298	6501	229136169	SO:0001583	missense	79573	exon9				CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.962A>C	1.37:g.231069546T>G	ENSP00000355621:p.Lys321Thr	Somatic		Capture	SOLID	Phase_I	229136169	NM_024525	B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	CCDS1588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.04|17.04	3.288105|3.288105	0.59976|0.59976	.|.	.|.	ENSG00000143643|ENSG00000143643	ENST00000522821|ENST00000366661;ENST00000366662;ENST00000414259	T|T;T;T	0.29142|0.58797	1.58|1.21;0.31;0.31	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.54759|0.54759	0.1878|0.1878	N|N	0.24115|0.24115	0.695|0.695	0.58432|0.58432	D|D	0.999998|0.999998	.|P;P;P;P	.|0.52842	.|0.849;0.956;0.822;0.941	.|B;P;B;P	.|0.53006	.|0.338;0.715;0.268;0.577	T|T	0.50939|0.50939	-0.8768|-0.8768	8|10	0.87932|0.22706	D|T	0|0.39	-4.2907|-4.2907	15.8856|15.8856	0.79244|0.79244	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|246;268;268;321	.|Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.|.;.;.;TTC13_HUMAN	Q|T	181|321;268;268	ENSP00000430385:K181Q|ENSP00000355621:K321T;ENSP00000355622:K268T;ENSP00000416631:K268T	ENSP00000430385:K181Q|ENSP00000355621:K321T	K|K	-|-	1|2	0|0	TTC13|TTC13	229136169|229136169	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.913000|5.913000	0.69957|0.69957	2.147000|2.147000	0.66899|0.66899	0.460000|0.460000	0.39030|0.39030	AAA|AAA		0.343	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525	
TSNAX	7257	hgsc.bcm.edu	37	1	231678342	231678342	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:231678342C>T	ENST00000366639.4	+	4	510	c.352C>T	c.(352-354)Cga>Tga	p.R118*	TSNAX-DISC1_ENST00000602962.1_Nonsense_Mutation_p.R118*|TSNAX_ENST00000602825.1_3'UTR	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	118	Interaction with C1D.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|sequence-specific DNA binding (GO:0043565)	p.R118*(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				TCAGTTCCATCGAGCCATTAC	0.358																																					p.R118X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C352T	1						.						153.0	150.0	151.0					1																	231678342		2203	4300	6503	229744965	SO:0001587	stop_gained	7257	exon4			X95073	CCDS1596.1	1q42.2	2008-02-05			ENSG00000116918	ENSG00000116918			12380	protein-coding gene	gene with protein product		602964				9013868	Standard	NM_005999		Approved	TRAX	uc001huw.3	Q99598	OTTHUMG00000039486	ENST00000366639.4:c.352C>T	1.37:g.231678342C>T	ENSP00000355599:p.Arg118*	Somatic		Capture	SOLID	Phase_I	229744965	NM_005999	B1APC6	Nonsense_Mutation	SNP	ENST00000366639.4	37	CCDS1596.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184104	0.78677	.	.	ENSG00000116918	ENST00000366639;ENST00000413309	.	.	.	5.76	1.25	0.21368	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.795	0.85599	0.7333:0.2667:0.0:0.0	.	.	.	.	X	118;125	.	ENSP00000355599:R118X	R	+	1	2	TSNAX	229744965	1.000000	0.71417	0.935000	0.37517	0.713000	0.41058	1.445000	0.35079	0.233000	0.21120	-0.182000	0.12963	CGA		0.358	TSNAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095267.2	NM_005999	
LUZP1	7798	hgsc.bcm.edu	37	1	23418835	23418835	+	Silent	SNP	C	C	T	rs202187077		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:23418835C>T	ENST00000302291.4	-	4	2721	c.1920G>A	c.(1918-1920)ccG>ccA	p.P640P	LUZP1_ENST00000314174.5_Silent_p.P640P|LUZP1_ENST00000374623.3_Silent_p.P640P|LUZP1_ENST00000418342.1_Silent_p.P640P			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	640					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)		p.P640P(2)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		AGGCTTCATGCGGACTGCTGT	0.468																																					p.P640P												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G1920A	1						.						188.0	179.0	182.0					1																	23418835		2203	4300	6503	23291422	SO:0001819	synonymous_variant	7798	exon3			BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.1920G>A	1.37:g.23418835C>T		Somatic		Capture	SOLID	Phase_I	23291422	NM_001142546	Q5TH93|Q8N4X3|Q8TEH1	Silent	SNP	ENST00000302291.4	37	CCDS30628.1																																																																																				0.468	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631	
KIAA1804	84451	hgsc.bcm.edu	37	1	233482322	233482322	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:233482322G>A	ENST00000366624.3	+	2	1201	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	MLK4_ENST00000366623.3_Missense_Mutation_p.E314K	NM_032435.2	NP_115811.2												p.E314K(1)									GATGGCCCCCGAAGTGATCAA	0.473																																					p.E314K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G940A	1						.						83.0	79.0	80.0					1																	233482322		2203	4300	6503	231548945	SO:0001583	missense	84451	exon2																														ENST00000366624.3:c.940G>A	1.37:g.233482322G>A	ENSP00000355583:p.Glu314Lys	Somatic		Capture	SOLID	Phase_I	231548945	NM_032435		Missense_Mutation	SNP	ENST00000366624.3	37	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	G	34	5.397107	0.96009	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	D;D	0.97529	-4.42;-4.42	4.49	4.49	0.54785	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99248	0.9738	H	0.99454	4.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98425	1.0579	10	0.87932	D	0	.	17.3738	0.87386	0.0:0.0:1.0:0.0	.	314;314	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	K	314	ENSP00000355582:E314K;ENSP00000355583:E314K	ENSP00000355582:E314K	E	+	1	0	RP5-862P8.2	231548945	1.000000	0.71417	0.894000	0.35097	0.978000	0.69477	9.648000	0.98483	2.319000	0.78375	0.563000	0.77884	GAA		0.473	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1		
LYST	1130	hgsc.bcm.edu	37	1	235970023	235970023	+	Missense_Mutation	SNP	C	C	T	rs80338647		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:235970023C>T	ENST00000389794.3	-	6	2587	c.2413G>A	c.(2413-2415)Gaa>Aaa	p.E805K	LYST_ENST00000536965.1_Missense_Mutation_p.E805K|LYST_ENST00000389793.2_Missense_Mutation_p.E805K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	805					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.E805K(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CAATTTAATTCGATTATTTGA	0.318																																					p.E805K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2413A	1	GRCh37	CD075459	LYST	D	rs80338647	.						67.0	65.0	66.0					1																	235970023		2203	4300	6503	234036646	SO:0001583	missense	1130	exon6			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2413G>A	1.37:g.235970023C>T	ENSP00000374444:p.Glu805Lys	Somatic		Capture	SOLID	Phase_I	234036646	NM_000081	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	32	5.171114	0.94807	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.63255	-0.03;-0.03;1.1	5.44	5.44	0.79542	.	0.101671	0.64402	D	0.000002	T	0.76176	0.3951	M	0.62723	1.935	0.80722	D	1	P;D	0.89917	0.888;1.0	B;D	0.66196	0.327;0.942	T	0.72843	-0.4170	10	0.32370	T	0.25	.	19.3379	0.94326	0.0:1.0:0.0:0.0	.	805;805	Q99698-3;Q99698	.;LYST_HUMAN	K	805	ENSP00000374444:E805K;ENSP00000374443:E805K;ENSP00000438315:E805K	ENSP00000374443:E805K	E	-	1	0	LYST	234036646	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.294000	0.78760	2.585000	0.87301	0.650000	0.86243	GAA		0.318	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
ZNF670	93474	hgsc.bcm.edu	37	1	247202765	247202765	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:247202765C>A	ENST00000366503.2	-	2	236	c.78G>T	c.(76-78)aaG>aaT	p.K26N		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	26	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.K26N(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			TGTAGAGATTCTTTTGAGAAG	0.423																																					p.K26N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G78T	1						.						108.0	103.0	105.0					1																	247202765		2203	4300	6503	245269388	SO:0001583	missense	93474	exon2				CCDS31087.1	1q44	2013-01-08			ENSG00000135747	ENSG00000135747		"""Zinc fingers, C2H2-type"", ""-"""	28167	protein-coding gene	gene with protein product						12477932	Standard	NM_033213		Approved	MGC12466	uc001icd.2	Q9BS34	OTTHUMG00000040868	ENST00000366503.2:c.78G>T	1.37:g.247202765C>A	ENSP00000355459:p.Lys26Asn	Somatic		Capture	SOLID	Phase_I	245269388	NM_033213		Missense_Mutation	SNP	ENST00000366503.2	37	CCDS31087.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.055177	0.36277	.	.	ENSG00000135747	ENST00000366503	T	0.02944	4.1	0.46	0.46	0.16684	Krueppel-associated box (4);	.	.	.	.	T	0.19446	0.0467	H	0.95402	3.665	0.21604	N	0.999622	D	0.89917	1.0	D	0.87578	0.998	T	0.02282	-1.1183	8	0.87932	D	0	.	.	.	.	.	26	Q9BS34	ZN670_HUMAN	N	26	ENSP00000355459:K26N	ENSP00000355459:K26N	K	-	3	2	ZNF670	245269388	0.000000	0.05858	0.170000	0.22879	0.259000	0.26198	-0.965000	0.03829	0.495000	0.27882	0.298000	0.19748	AAG		0.423	ZNF670-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098183.3	NM_033213	
CEP104	9731	hgsc.bcm.edu	37	1	3753917	3753917	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:3753917G>T	ENST00000378230.3	-	9	1382	c.1058C>A	c.(1057-1059)tCt>tAt	p.S353Y	CEP104_ENST00000460038.1_5'Flank	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	353						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)	p.S353Y(1)		breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						ATGCTGAGGAGAAATAGTTAG	0.423																																					p.S353Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1058A	1						.						93.0	86.0	88.0					1																	3753917		2203	4300	6503	3743777	SO:0001583	missense	9731	exon9			AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.1058C>A	1.37:g.3753917G>T	ENSP00000367476:p.Ser353Tyr	Somatic		Capture	SOLID	Phase_I	3743777	NM_014704	Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362242	0.41902	.	.	ENSG00000116198	ENST00000378230	T	0.34667	1.35	4.87	1.91	0.25777	.	1.205850	0.05437	N	0.547046	T	0.48572	0.1507	M	0.67953	2.075	0.09310	N	0.999998	P;P	0.52692	0.797;0.955	B;P	0.56700	0.332;0.804	T	0.18241	-1.0343	10	0.27785	T	0.31	.	4.4081	0.11420	0.2755:0.1668:0.5577:0.0	.	353;353	O60308-3;O60308	.;CE104_HUMAN	Y	353	ENSP00000367476:S353Y	ENSP00000367476:S353Y	S	-	2	0	CEP104	3743777	0.203000	0.23435	0.009000	0.14445	0.274000	0.26718	2.079000	0.41577	0.197000	0.20387	0.555000	0.69702	TCT		0.423	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704	
LZIC	84328	hgsc.bcm.edu	37	1	9995672	9995672	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:9995672T>C	ENST00000377223.1	-	4	362	c.115A>G	c.(115-117)Aca>Gca	p.T39A	LZIC_ENST00000541052.1_Missense_Mutation_p.T60A|LZIC_ENST00000377213.1_Missense_Mutation_p.T39A|LZIC_ENST00000400903.2_Missense_Mutation_p.T39A	NM_032368.3	NP_115744.2	Q8WZA0	LZIC_HUMAN	leucine zipper and CTNNBIP1 domain containing	39					response to ionizing radiation (GO:0010212)			p.T39A(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.29e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;0.000242)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.00842)|READ - Rectum adenocarcinoma(331;0.0419)		TATTCATCTGTATCAAGTTCC	0.313																																					p.T39A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A115G	1						.						119.0	124.0	122.0					1																	9995672		2202	4299	6501	9918259	SO:0001583	missense	84328	exon3			AB060688	CCDS107.1	1p36.22	2008-02-05			ENSG00000162441	ENSG00000162441			17497	protein-coding gene	gene with protein product		610458				11712074	Standard	NM_032368		Approved	MGC15436	uc001aqm.3	Q8WZA0	OTTHUMG00000001804	ENST00000377223.1:c.115A>G	1.37:g.9995672T>C	ENSP00000366430:p.Thr39Ala	Somatic		Capture	SOLID	Phase_I	9918259	NM_032368	B2R6F0|B4E2N0|Q96IU1	Missense_Mutation	SNP	ENST00000377223.1	37	CCDS107.1	.	.	.	.	.	.	.	.	.	.	T	2.982	-0.210134	0.06140	.	.	ENSG00000162441	ENST00000377223;ENST00000400903;ENST00000541052;ENST00000377213	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.63	-2.91	0.05631	.	0.645763	0.16144	N	0.227586	T	0.11879	0.0289	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31806	-0.9930	9	.	.	.	-1.8948	9.0047	0.36104	0.0:0.5329:0.1199:0.3472	.	60;39	B4E2N0;Q8WZA0	.;LZIC_HUMAN	A	39;39;60;39	ENSP00000366430:T39A;ENSP00000383695:T39A;ENSP00000437432:T60A;ENSP00000366418:T39A	.	T	-	1	0	LZIC	9918259	0.466000	0.25823	0.715000	0.30552	0.129000	0.20672	0.989000	0.29629	-0.252000	0.09528	0.402000	0.26972	ACA		0.313	LZIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005037.1	NM_032368	
RHCE	6006	hgsc.bcm.edu	37	1	25717340	25717340	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:25717340C>A	ENST00000294413.7	-	5	759	c.701G>T	c.(700-702)aGg>aTg	p.R234M	RHCE_ENST00000346452.4_Intron|RHCE_ENST00000374352.2_Missense_Mutation_p.R218M|RHCE_ENST00000413854.1_Missense_Mutation_p.R234M|RHCE_ENST00000349438.4_Missense_Mutation_p.R234M|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000243186.6_Missense_Mutation_p.R234M|RHCE_ENST00000425135.1_Missense_Mutation_p.R234M|RHCE_ENST00000349320.3_Missense_Mutation_p.R218M|RHCE_ENST00000340849.4_Intron	NM_020485.4	NP_065231	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	234						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)	p.R234M(1)		endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		GGCATTCTTCCTTTGGATTGG	0.537																																					p.R234M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G701T	1						.						199.0	176.0	184.0					1																	25717340		2203	4300	6503	25589927	SO:0001583	missense	6006	exon5			BC075081	CCDS30634.1, CCDS30635.1, CCDS30636.1, CCDS30637.1	1p36.11	2014-09-17	2006-02-23		ENSG00000188672	ENSG00000188672		"""CD molecules"", ""Blood group antigens"""	10008	protein-coding gene	gene with protein product		111700	"""Rhesus blood group, CcEe antigens"""	RH		8220426	Standard	NM_138618		Approved	CD240CE	uc001bkf.3	P18577	OTTHUMG00000007650	ENST00000294413.7:c.701G>T	1.37:g.25717340C>A	ENSP00000294413:p.Arg234Met	Somatic		Capture	SOLID	Phase_I	25589927	NM_138618	A7DW68|B7UDF3|B7UDF4|B7UDF5|B7UDF6|B7UDF7|B7UDF8|B7UDF9|B7UDG0|B7UDG1|B7UDG2|B7UDG3|Q02163|Q02164|Q02165|Q16160|Q2MJW0|Q2VC86|Q3LTM6|Q6AZX5|Q6J2U3|Q7RU06|Q8IZT2|Q8IZT3|Q8IZT4|Q8IZT5|Q9UD13|Q9UD14|Q9UD15|Q9UD16|Q9UD73|Q9UD74|Q9UEC2|Q9UEC3|Q9UPN0	Missense_Mutation	SNP	ENST00000294413.7	37	CCDS30635.1	.	.	.	.	.	.	.	.	.	.	c	13.23	2.175727	0.38413	.	.	ENSG00000188672	ENST00000413854;ENST00000539650;ENST00000374352;ENST00000243186;ENST00000425135;ENST00000349320;ENST00000294413;ENST00000447203;ENST00000349438	T;T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81;1.81	4.08	-1.35	0.09114	Ammonium transporter AmtB-like (3);	0.343624	0.32719	N	0.005725	T	0.45438	0.1342	M	0.87269	2.87	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.87578	0.981;0.971;0.998	T	0.28808	-1.0032	10	0.87932	D	0	-9.3939	3.4744	0.07579	0.1777:0.4077:0.0:0.4146	.	218;234;234	Q5VSJ9;Q5VSJ8;P18577	.;.;RHCE_HUMAN	M	234;176;218;234;234;218;234;234;234	ENSP00000415417:R234M;ENSP00000363472:R218M;ENSP00000243186:R234M;ENSP00000392809:R234M;ENSP00000311185:R218M;ENSP00000294413:R234M;ENSP00000334570:R234M	ENSP00000243186:R234M	R	-	2	0	RHCE	25589927	0.008000	0.16893	0.015000	0.15790	0.008000	0.06430	0.108000	0.15396	-0.132000	0.11557	-0.293000	0.09583	AGG		0.537	RHCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020312.2	NM_020485	
TMEM57	55219	hgsc.bcm.edu	37	1	25815701	25815701	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:25815701G>T	ENST00000374343.4	+	9	1713	c.1534G>T	c.(1534-1536)Gaa>Taa	p.E512*	TMEM57_ENST00000399766.3_Nonsense_Mutation_p.E285*|TMEM57_ENST00000399763.3_Nonsense_Mutation_p.E154*	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	512					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)		p.E512*(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TCGGATCAGAGAACTAGAAGC	0.438																																					p.E512X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1534T	1						.						102.0	101.0	101.0					1																	25815701		2203	4300	6503	25688288	SO:0001587	stop_gained	55219	exon9			AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1534G>T	1.37:g.25815701G>T	ENSP00000363463:p.Glu512*	Somatic		Capture	SOLID	Phase_I	25688288	NM_018202	B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Nonsense_Mutation	SNP	ENST00000374343.4	37	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	G	39	7.306135	0.98200	.	.	ENSG00000204178	ENST00000399766;ENST00000399763;ENST00000374343	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-18.7713	19.5674	0.95401	0.0:0.0:1.0:0.0	.	.	.	.	X	285;154;512	.	ENSP00000363463:E512X	E	+	1	0	TMEM57	25688288	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.309000	0.96252	2.873000	0.98535	0.561000	0.74099	GAA		0.438	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202	
ARID1A	8289	hgsc.bcm.edu	37	1	27106354	27106354	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:27106354C>T	ENST00000324856.7	+	20	6336	c.5965C>T	c.(5965-5967)Cga>Tga	p.R1989*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R1606*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.R317*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.R1772*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1989					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.R1989*(8)	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)		CAATACCATTCGAAGCCTGTC	0.552			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																p.R1772X			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	.	.	8	Substitution - Nonsense(8)	ovary(2)|large_intestine(2)|endometrium(2)|pancreas(2)	c.C5314T	1						.						116.0	98.0	104.0					1																	27106354		2203	4300	6503	26978941	SO:0001587	stop_gained	8289	exon20			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.5965C>T	1.37:g.27106354C>T	ENSP00000320485:p.Arg1989*	Somatic		Capture	SOLID	Phase_I	26978941	NM_139135	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.391795|10.391795	0.99396|0.99396	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690|ENST00000430799	.|.	.|.	.|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.65091	.|0.2658	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.62291	.|-0.6885	.|4	0.02654|.	T|.	1|.	-1.0676|-1.0676	13.6179|13.6179	0.62120|0.62120	0.1916:0.8084:0.0:0.0|0.1916:0.8084:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1989;1772;1606;317|885	.|.	ENSP00000320485:R1989X|.	R|S	+|+	1|2	2|0	ARID1A|ARID1A	26978941|26978941	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.555000|4.555000	0.60767|0.60767	2.760000|2.760000	0.94817|0.94817	0.478000|0.478000	0.44815|0.44815	CGA|TCG		0.552	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	
RNF19B	127544	hgsc.bcm.edu	37	1	33412110	33412110	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:33412110G>T	ENST00000373456.7	-	4	1041	c.1042C>A	c.(1042-1044)Ctt>Att	p.L348I	RNF19B_ENST00000235150.4_Missense_Mutation_p.L347I|RNF19B_ENST00000356990.5_Missense_Mutation_p.L347I	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	348					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.L347I(1)|p.L157I(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGCTGCCAAAGAATTTTCTTC	0.483																																					p.L348I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1042A	1						.						75.0	60.0	65.0					1																	33412110		2203	4300	6503	33184697	SO:0001583	missense	127544	exon4			AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"""RING-type (C3HC4) zinc fingers"""	26886	protein-coding gene	gene with protein product		610872	"""IBR domain containing 3"""	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.1042C>A	1.37:g.33412110G>T	ENSP00000362555:p.Leu348Ile	Somatic		Capture	SOLID	Phase_I	33184697	NM_153341	B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Missense_Mutation	SNP	ENST00000373456.7	37	CCDS372.2	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828223	0.50845	.	.	ENSG00000116514	ENST00000373456;ENST00000356990;ENST00000235150;ENST00000405457	T;T;T	0.37411	1.2;1.28;1.21	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	L	0.46885	1.475	0.42578	D	0.9932	P;P;B	0.38535	0.544;0.635;0.096	B;B;B	0.41813	0.367;0.081;0.081	T	0.23655	-1.0182	10	0.54805	T	0.06	.	14.0837	0.64942	0.0:0.0:0.8494:0.1506	.	347;348;347	G3XA82;Q6ZMZ0;E9PAW6	.;RN19B_HUMAN;.	I	348;347;347;246	ENSP00000362555:L348I;ENSP00000349482:L347I;ENSP00000235150:L347I	ENSP00000235150:L347I	L	-	1	0	RNF19B	33184697	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.689000	0.54706	2.627000	0.88993	0.563000	0.77884	CTT		0.483	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	NM_153341	
AZIN2	113451	hgsc.bcm.edu	37	1	33583605	33583605	+	Missense_Mutation	SNP	G	G	A	rs373343151		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:33583605G>A	ENST00000294517.6	+	11	1719	c.1132G>A	c.(1132-1134)Gta>Ata	p.V378I	ADC_ENST00000398167.1_Missense_Mutation_p.V398I|ADC_ENST00000373441.1_Missense_Mutation_p.V398I|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373443.3_Missense_Mutation_p.V378I	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		378					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)	p.V378I(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	GCAACTACACGTAGGGGACTG	0.632																																					p.V378I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1132A	1						.						70.0	79.0	76.0					1																	33583605		2203	4300	6503	33356192	SO:0001583	missense	113451	exon11																														ENST00000294517.6:c.1132G>A	1.37:g.33583605G>A	ENSP00000294517:p.Val378Ile	Somatic		Capture	SOLID	Phase_I	33356192	NM_052998	B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Missense_Mutation	SNP	ENST00000294517.6	37	CCDS375.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.385979	0.42308	.	.	ENSG00000142920	ENST00000294517;ENST00000373443;ENST00000398167;ENST00000373441	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	4.92	2.92	0.33932	Orn/DAP/Arg decarboxylase 2, C-terminal (1);Alanine racemase/group IV decarboxylase, C-terminal (2);	0.244818	0.26478	N	0.024153	T	0.31231	0.0790	L	0.37850	1.14	0.80722	D	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.09377	0.004;0.001;0.001	T	0.14035	-1.0487	10	0.48119	T	0.1	-3.0879	9.9061	0.41377	0.0821:0.1396:0.7783:0.0	.	398;283;378	Q96A70-2;D3DPR0;Q96A70	.;.;ADC_HUMAN	I	378;378;398;398	ENSP00000294517:V378I;ENSP00000362542:V378I;ENSP00000381233:V398I;ENSP00000362540:V398I	ENSP00000294517:V378I	V	+	1	0	ADC	33356192	1.000000	0.71417	0.909000	0.35828	0.705000	0.40729	2.974000	0.49272	1.201000	0.43203	0.603000	0.83216	GTA		0.632	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1		
CSMD2	114784	hgsc.bcm.edu	37	1	34100837	34100837	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:34100837A>C	ENST00000373380.1	-	10	1902	c.1682T>G	c.(1681-1683)tTt>tGt	p.F561C	CSMD2_ENST00000373381.4_Missense_Mutation_p.F1688C|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1648	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F1648C(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACAGTAACAAAATACAAGCA	0.493											OREG0013349	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F1648C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4943G	1						.						125.0	100.0	108.0					1																	34100837		2203	4300	6503	33873424	SO:0001583	missense	114784	exon31			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1682T>G	1.37:g.34100837A>C	ENSP00000362478:p.Phe561Cys	Somatic	845	Capture	SOLID	Phase_I	33873424	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37		.	.	.	.	.	.	.	.	.	.	A	16.91	3.253487	0.59212	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.60171	0.21;0.21	5.89	5.89	0.94794	CUB (5);	0.122213	0.56097	D	0.000023	T	0.66752	0.2821	L	0.46157	1.445	0.80722	D	1	D;D;D	0.65815	0.995;0.984;0.984	D;D;D	0.66497	0.944;0.926;0.926	T	0.66799	-0.5832	10	0.45353	T	0.12	.	11.3761	0.49728	0.9279:0.0:0.0721:0.0	.	561;1648;1688	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	C	1688;561	ENSP00000362479:F1688C;ENSP00000362478:F561C	ENSP00000241312:F1648C	F	-	2	0	CSMD2	33873424	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.956000	0.63645	2.254000	0.74563	0.459000	0.35465	TTT		0.493	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896	
GJA4	2701	hgsc.bcm.edu	37	1	35260769	35260769	+	Missense_Mutation	SNP	C	C	T	rs1764391	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:35260769C>T	ENST00000342280.4	+	2	1043	c.955C>T	c.(955-957)Ccc>Tcc	p.P319S		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	319			P -> S (in allele CX37*2; dbSNP:rs1764391). {ECO:0000269|PubMed:10447790, ECO:0000269|PubMed:10728596, ECO:0000269|Ref.3, ECO:0000269|Ref.4}.		blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TGGCCAAAAACCCCCAAGTCG	0.577													T|||	1671	0.333666	0.5847	0.2723	5008	,	,		17834	0.1726		0.332	False		,,,				2504	0.2055				p.P319S												.	.	0			c.C955T	1	GRCh37	CM994122	GJA4	M	rs1764391	.	T	SER/PRO	2315,2091	563.5+/-381.2	610,1095,498	43.0	41.0	42.0		955	0.0	0.9	1	dbSNP_89	42	2603,5997	677.2+/-403.4	395,1813,2092	yes	missense	GJA4	NM_002060.2	74	1005,2908,2590	TT,TC,CC		30.2674,47.458,37.8133	benign	319/334	35260769	4918,8088	2203	4300	6503	35033356	SO:0001583	missense	2701	exon2			M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"""Ion channels / Gap junction proteins (connexins)"""	4278	protein-coding gene	gene with protein product	"""connexin 37"""	121012	"""gap junction protein, alpha 4, 37kD (connexin 37)"", ""gap junction protein, alpha 4, 37kDa (connexin 37)"""			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.955C>T	1.37:g.35260769C>T	ENSP00000343676:p.Pro319Ser	Somatic		Capture	SOLID	Phase_I	35033356	NM_002060	A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Missense_Mutation	SNP	ENST00000342280.4	37	CCDS30669.1	730	0.3342490842490842	264	0.5365853658536586	109	0.3011049723756906	106	0.1853146853146853	251	0.3311345646437995	T	0.051	-1.249319	0.01469	0.52542	0.302674	ENSG00000187513	ENST00000342280	D	0.97114	-4.25	5.25	0.0125	0.14092	.	2.066470	0.02474	N	0.087865	T	0.00012	0.0000	N	0.00926	-1.1	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.42816	-0.9429	9	0.36615	T	0.2	.	5.8617	0.18752	0.0:0.4496:0.296:0.2544	rs1764391;rs16837028;rs52823203;rs1764391	319	P35212	CXA4_HUMAN	S	319	ENSP00000343676:P319S	ENSP00000343676:P319S	P	+	1	0	GJA4	35033356	0.000000	0.05858	0.865000	0.33974	0.202000	0.24057	0.155000	0.16362	0.237000	0.21200	-0.361000	0.07541	CCC		0.577	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011556.1	NM_002060	
GJA9	81025	hgsc.bcm.edu	37	1	39341673	39341673	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:39341673C>T	ENST00000360786.3	-	1	350	c.98G>A	c.(97-99)cGa>cAa	p.R33Q	RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000357771.3_Missense_Mutation_p.R33Q|RP5-864K19.4_ENST00000456813.1_RNA|MYCBP_ENST00000489803.1_5'UTR|MYCBP_ENST00000397572.2_5'Flank|GJA9_ENST00000454994.2_Missense_Mutation_p.R33Q|RP5-864K19.4_ENST00000433671.2_RNA			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	33					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.R33Q(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			AACAAGCATTCGAAATATGAA	0.468																																					p.R33Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G98A	1						.						234.0	236.0	235.0					1																	39341673		2203	4300	6503	39114260	SO:0001583	missense	81025	exon2			AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"""Ion channels / Gap junction proteins (connexins)"""	19155	protein-coding gene	gene with protein product	"""connexin 59"""	611923	"""gap junction protein, alpha 10, 59kDa"""	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.98G>A	1.37:g.39341673C>T	ENSP00000354020:p.Arg33Gln	Somatic		Capture	SOLID	Phase_I	39114260	NM_030772	B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000360786.3	37	CCDS432.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713140	0.89112	.	.	ENSG00000131233	ENST00000454994;ENST00000357771;ENST00000360786	D;D;D	0.99680	-6.38;-6.38;-6.38	4.56	3.62	0.41486	Connexin, N-terminal (1);	0.000000	0.64402	U	0.000001	D	0.99802	0.9915	H	0.96748	3.875	0.47621	D	0.999479	D	0.89917	1.0	D	0.97110	1.0	D	0.97042	0.9758	10	0.72032	D	0.01	.	13.8357	0.63408	0.0:0.8446:0.1554:0.0	.	33	P57773	CXA9_HUMAN	Q	33	ENSP00000406846:R33Q;ENSP00000350415:R33Q;ENSP00000354020:R33Q	ENSP00000350415:R33Q	R	-	2	0	GJA9	39114260	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	3.085000	0.50151	1.195000	0.43115	0.655000	0.94253	CGA		0.468	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001205.1	NM_030772	
MACF1	23499	hgsc.bcm.edu	37	1	39749133	39749133	+	Silent	SNP	G	G	A	rs150686066		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:39749133G>A	ENST00000372915.3	+	8	963	c.876G>A	c.(874-876)tcG>tcA	p.S292S	MACF1_ENST00000317713.7_Silent_p.S292S|MACF1_ENST00000564288.1_Silent_p.S287S|MACF1_ENST00000539005.1_Silent_p.S292S|MACF1_ENST00000361689.2_Silent_p.S292S|MACF1_ENST00000567887.1_Silent_p.S324S|MACF1_ENST00000545844.1_Silent_p.S292S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	292	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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.S292S(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)			ATGTGTCTTCGATTTATGATG	0.408																																					p.S292S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G876A	1						.	G		0,4406		0,0,2203	167.0	149.0	155.0		876	-11.1	0.2	1	dbSNP_134	155	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MACF1	NM_012090.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		292/5431	39749133	1,13005	2203	4300	6503	39521720	SO:0001819	synonymous_variant	23499	exon10			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.876G>A	1.37:g.39749133G>A		Somatic		Capture	SOLID	Phase_I	39521720	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37																																																																																					0.408	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
TIE1	7075	hgsc.bcm.edu	37	1	43775103	43775103	+	Silent	SNP	C	C	T	rs146776938	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:43775103C>T	ENST00000372476.3	+	9	1312	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	TIE1_ENST00000433781.2_Silent_p.F56F	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	411	Ig-like C2-type 2.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.F411F(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAGCTGAGTTCGAGGTGCCCC	0.597																																					p.F411F												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.C1233T	1						.	C		0,4406		0,0,2203	143.0	128.0	133.0		1233	-3.8	0.9	1	dbSNP_134	133	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous	TIE1	NM_005424.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		411/1139	43775103	2,13004	2203	4300	6503	43547690	SO:0001819	synonymous_variant	7075	exon9			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1233C>T	1.37:g.43775103C>T		Somatic		Capture	SOLID	Phase_I	43547690	NM_005424	B5A949|B5A950	Silent	SNP	ENST00000372476.3	37	CCDS482.1																																																																																				0.597	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424	
CYP4A11	1579	hgsc.bcm.edu	37	1	47401277	47401277	+	Missense_Mutation	SNP	C	C	A	rs62618709		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:47401277C>A	ENST00000310638.4	-	5	584	c.553G>T	c.(553-555)Gtc>Ttc	p.V185F	CYP4A11_ENST00000371904.4_Missense_Mutation_p.V185F|CYP4A11_ENST00000371905.1_Missense_Mutation_p.V185F|CYP4A11_ENST00000462347.1_Missense_Mutation_p.V185F|CYP4A11_ENST00000457840.2_Missense_Mutation_p.V81F|CYP4A11_ENST00000496519.1_5'Flank	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	185					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.V185F(3)		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)	TGCTGAAAGACCTCCAGAGGG	0.542																																					p.V185F												.	.	3	Substitution - Missense(3)	ovary(2)|large_intestine(1)	c.G553T	1						.						84.0	69.0	74.0					1																	47401277		2203	4298	6501	47173864	SO:0001583	missense	1579	exon5			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.553G>T	1.37:g.47401277C>A	ENSP00000311095:p.Val185Phe	Somatic		Capture	SOLID	Phase_I	47173864	NM_000778	Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	CCDS543.1	.	.	.	.	.	.	.	.	.	.	N	17.32	3.360913	0.61403	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905;ENST00000457840	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.45	5.14	-6.37	0.01963	.	0.621999	0.16471	N	0.212985	T	0.65523	0.2699	M	0.65975	2.015	0.26764	N	0.969943	P	0.41947	0.766	P	0.45794	0.493	T	0.64063	-0.6495	10	0.59425	D	0.04	.	8.6725	0.34159	0.0:0.3111:0.2715:0.4174	rs62618709	185	Q02928	CP4AB_HUMAN	F	185;185;185;81	ENSP00000311095:V185F;ENSP00000360971:V185F;ENSP00000360972:V185F;ENSP00000406272:V81F	ENSP00000311095:V185F	V	-	1	0	CYP4A11	47173864	0.000000	0.05858	0.343000	0.25615	0.146000	0.21551	-0.730000	0.04915	-0.867000	0.04063	-0.827000	0.03088	GTC		0.542	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778	
CPT2	1376	hgsc.bcm.edu	37	1	53676407	53676407	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:53676407A>C	ENST00000371486.3	+	4	1576	c.1061A>C	c.(1060-1062)aAa>aCa	p.K354T	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	354					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.K354T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	TGGTTTGATAAATCCTTTAAC	0.478																																					p.K354T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1061C	1						.						64.0	61.0	62.0					1																	53676407		2203	4300	6503	53448995	SO:0001583	missense	1376	exon4			BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"""carnitine palmitoyltransferase II"""	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.1061A>C	1.37:g.53676407A>C	ENSP00000360541:p.Lys354Thr	Somatic		Capture	SOLID	Phase_I	53448995	NM_000098	B2R6S0|Q5SW68|Q9BQ26	Missense_Mutation	SNP	ENST00000371486.3	37	CCDS575.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.437555	0.83885	.	.	ENSG00000157184	ENST00000371486	D	0.95821	-3.82	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.98632	0.9542	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99764	1.1022	10	0.87932	D	0	-25.8089	16.0204	0.80478	1.0:0.0:0.0:0.0	.	354	P23786	CPT2_HUMAN	T	354	ENSP00000360541:K354T	ENSP00000360541:K354T	K	+	2	0	CPT2	53448995	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	9.339000	0.96797	2.174000	0.68829	0.533000	0.62120	AAA		0.478	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	NM_000098	
ALG6	29929	hgsc.bcm.edu	37	1	63867971	63867971	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:63867971T>C	ENST00000371108.4	+	4	519	c.214T>C	c.(214-216)Tac>Cac	p.Y72H	ALG6_ENST00000263440.4_Missense_Mutation_p.Y72H	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	72					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)	p.Y72H(1)		endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GGGATTGGATTACCCACCTCT	0.323																																					p.Y72H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T214C	1						.						137.0	135.0	136.0					1																	63867971		2203	4300	6503	63640559	SO:0001583	missense	29929	exon4			AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	604566	"""asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.214T>C	1.37:g.63867971T>C	ENSP00000360149:p.Tyr72His	Somatic		Capture	SOLID	Phase_I	63640559	NM_013339	B3KMU2|Q5SXR9|Q9H3I0	Missense_Mutation	SNP	ENST00000371108.4	37	CCDS30735.1	.	.	.	.	.	.	.	.	.	.	t	25.2	4.610774	0.87258	.	.	ENSG00000088035	ENST00000371108;ENST00000263440	D;D	0.92048	-2.96;-2.96	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.96861	0.8975	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98089	1.0408	10	0.87932	D	0	-21.1809	14.4035	0.67065	0.0:0.0:0.0:1.0	.	72	A2A2G4	.	H	72	ENSP00000360149:Y72H;ENSP00000263440:Y72H	ENSP00000263440:Y72H	Y	+	1	0	ALG6	63640559	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.694000	0.84235	1.806000	0.52798	0.455000	0.32223	TAC		0.323	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025330.2	NM_013339	
C1orf141	400757	hgsc.bcm.edu	37	1	67559056	67559056	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:67559056C>A	ENST00000371007.2	-	8	944	c.835G>T	c.(835-837)Gat>Tat	p.D279Y	C1orf141_ENST00000544837.1_Missense_Mutation_p.D279Y|C1orf141_ENST00000371006.1_Missense_Mutation_p.D279Y	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	279								p.D279Y(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						ATCTGTATATCTTTTCTCTGT	0.328																																					p.D279Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G835T	1						.						89.0	89.0	89.0					1																	67559056		2203	4298	6501	67331644	SO:0001583	missense	400757	exon7			BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.835G>T	1.37:g.67559056C>A	ENSP00000360046:p.Asp279Tyr	Somatic		Capture	SOLID	Phase_I	67331644	NM_001013674	Q0P5P5|Q5JVX5	Missense_Mutation	SNP	ENST00000371007.2	37	CCDS30745.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.177723	0.38413	.	.	ENSG00000203963	ENST00000371007;ENST00000371006;ENST00000544837	T;T;T	0.33865	1.39;1.39;1.39	4.73	-1.57	0.08506	.	2.897840	0.00961	N	0.003110	T	0.10208	0.0250	N	0.24115	0.695	0.09310	N	1	B	0.33448	0.412	B	0.35073	0.195	T	0.18840	-1.0324	10	0.49607	T	0.09	1.7825	4.925	0.13889	0.0:0.2574:0.1827:0.5599	.	279	Q5JVX7	CA141_HUMAN	Y	279	ENSP00000360046:D279Y;ENSP00000360045:D279Y;ENSP00000444018:D279Y	ENSP00000360045:D279Y	D	-	1	0	C1orf141	67331644	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.375000	0.02563	-0.153000	0.11137	0.462000	0.41574	GAT		0.328	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	NM_001013674	
ERICH3	127254	hgsc.bcm.edu	37	1	75097436	75097436	+	Silent	SNP	T	T	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:75097436T>C	ENST00000326665.5	-	7	998	c.780A>G	c.(778-780)ccA>ccG	p.P260P	C1orf173_ENST00000420661.2_Silent_p.P63P	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		260								p.P260P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GAGCAGTGGTTGGACGAAATC	0.363																																					p.P260P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A780G	1						.						187.0	168.0	175.0					1																	75097436		2203	4300	6503	74870024	SO:0001819	synonymous_variant	127254	exon7																														ENST00000326665.5:c.780A>G	1.37:g.75097436T>C		Somatic		Capture	SOLID	Phase_I	74870024	NM_001002912	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	CCDS30755.1																																																																																				0.363	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		
ACADM	34	hgsc.bcm.edu	37	1	76216213	76216213	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:76216213C>T	ENST00000370841.4	+	10	1364	c.927C>T	c.(925-927)ttC>ttT	p.F309F	ACADM_ENST00000543667.1_Silent_p.F120F|ACADM_ENST00000481374.1_3'UTR|ACADM_ENST00000370834.5_Silent_p.F342F|ACADM_ENST00000541113.1_Silent_p.F273F|ACADM_ENST00000420607.2_Silent_p.F313F	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	309					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)	p.F309F(1)		breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	GGAAAACTTTCGGAAAGCTAC	0.328																																					p.F313F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C939T	1						.						66.0	73.0	71.0					1																	76216213		2203	4300	6503	75988801	SO:0001819	synonymous_variant	34	exon10			M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.927C>T	1.37:g.76216213C>T		Somatic		Capture	SOLID	Phase_I	75988801	NM_001127328	Q5T4U4|Q9NYF1	Silent	SNP	ENST00000370841.4	37	CCDS668.1																																																																																				0.328	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1		
ST6GALNAC3	256435	hgsc.bcm.edu	37	1	76877920	76877920	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:76877920G>A	ENST00000328299.3	+	3	589	c.441G>A	c.(439-441)gcG>gcA	p.A147A	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	147					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)	p.A147A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TCAAGGAAGCGAATACTACTA	0.398																																					p.A147A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G441A	1						.						123.0	124.0	123.0					1																	76877920		2203	4300	6503	76650508	SO:0001819	synonymous_variant	256435	exon3				CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.441G>A	1.37:g.76877920G>A		Somatic		Capture	SOLID	Phase_I	76650508	NM_001160011	Q6PCE0|Q6UX29|Q8N259	Silent	SNP	ENST00000328299.3	37	CCDS672.1																																																																																				0.398	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996	
LPHN2	23266	hgsc.bcm.edu	37	1	82408841	82408841	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:82408841C>T	ENST00000370728.1	+	8	1231	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C	LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.R196C|LPHN2_ENST00000370715.1_Missense_Mutation_p.R196C|LPHN2_ENST00000370730.1_Missense_Mutation_p.R196C|LPHN2_ENST00000370725.1_Missense_Mutation_p.R196C|LPHN2_ENST00000370717.2_Missense_Mutation_p.R196C|LPHN2_ENST00000359929.3_Missense_Mutation_p.R196C|LPHN2_ENST00000394879.1_Missense_Mutation_p.R196C|LPHN2_ENST00000370721.1_Missense_Mutation_p.R200C|LPHN2_ENST00000370713.1_Missense_Mutation_p.R196C|LPHN2_ENST00000319517.6_Missense_Mutation_p.R196C|LPHN2_ENST00000271029.4_Missense_Mutation_p.R196C|LPHN2_ENST00000335786.5_Missense_Mutation_p.R196C|LPHN2_ENST00000370727.1_Missense_Mutation_p.R196C			O95490	LPHN2_HUMAN	latrophilin 2	196	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.R196C(3)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CCAAAATAGTCGCCAAACAAC	0.373																																					p.R196C												.	.	3	Substitution - Missense(3)	endometrium(2)|large_intestine(1)	c.C586T	1						.						84.0	87.0	86.0					1																	82408841		2202	4300	6502	82181429	SO:0001583	missense	23266	exon5			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.586C>T	1.37:g.82408841C>T	ENSP00000359763:p.Arg196Cys	Somatic		Capture	SOLID	Phase_I	82181429	NM_012302	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37		.	.	.	.	.	.	.	.	.	.	C	16.27	3.076088	0.55646	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57;-2.57;-2.57;-2.57;-2.57;-2.57;-2.57;-2.57;-2.57;-2.57	5.9	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.93446	0.7909	M	0.88775	2.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.94323	0.7555	10	0.87932	D	0	.	10.0719	0.42339	0.1361:0.7953:0.0:0.0685	.	196;196;196	O95490-3;O95490-4;O95490-2	.;.;.	C	200;196;196;196;196;196;196;196;196;196;196;196;196;196	ENSP00000359756:R200C;ENSP00000359763:R196C;ENSP00000359765:R196C;ENSP00000359762:R196C;ENSP00000359760:R196C;ENSP00000359758:R196C;ENSP00000353006:R196C;ENSP00000359750:R196C;ENSP00000359748:R196C;ENSP00000322270:R196C;ENSP00000359752:R196C;ENSP00000378344:R196C;ENSP00000271029:R196C;ENSP00000337306:R196C	ENSP00000271029:R196C	R	+	1	0	LPHN2	82181429	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	5.930000	0.70104	1.496000	0.48567	0.650000	0.86243	CGC		0.373	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302	
CLCA1	1179	hgsc.bcm.edu	37	1	86960128	86960128	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:86960128G>A	ENST00000234701.3	+	12	2290	c.1939G>A	c.(1939-1941)Gca>Aca	p.A647T	CLCA1_ENST00000394711.1_Missense_Mutation_p.A647T			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	647					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)	p.A647T(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GGATAATGGAGCAGGTAATCA	0.463																																					p.A647T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1939A	1						.						59.0	56.0	57.0					1																	86960128		2203	4300	6503	86732716	SO:0001583	missense	1179	exon11				CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1939G>A	1.37:g.86960128G>A	ENSP00000234701:p.Ala647Thr	Somatic		Capture	SOLID	Phase_I	86732716	NM_001285	B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	CCDS709.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888943	0.91814	.	.	ENSG00000016490	ENST00000234701;ENST00000394711	T;T	0.44482	0.92;0.92	6.07	6.07	0.98685	Domain of unknown function DUF1973 (1);	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	M	0.73962	2.25	0.42263	D	0.992027	P;P	0.46578	0.88;0.88	P;P	0.59546	0.859;0.859	T	0.53975	-0.8362	10	0.54805	T	0.06	-26.2068	15.8321	0.78760	0.0:0.0:0.8635:0.1364	.	647;410	A8K7I4;B4DUZ6	CLCA1_HUMAN;.	T	647	ENSP00000234701:A647T;ENSP00000378200:A647T	ENSP00000234701:A647T	A	+	1	0	CLCA1	86732716	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.391000	0.44424	2.885000	0.99019	0.655000	0.94253	GCA		0.463	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285	
GBP3	2635	hgsc.bcm.edu	37	1	89486336	89486336	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:89486336C>T	ENST00000370481.4	-	2	289	c.69G>A	c.(67-69)gcG>gcA	p.A23A	Y_RNA_ENST00000365515.1_RNA|GBP3_ENST00000475853.2_5'UTR	NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	0					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.A23A(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)		CTTCTGGATTCGCCACCAGTT	0.517																																					p.A23A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G69A	1						.						129.0	122.0	124.0					1																	89486336		2203	4300	6503	89258924	SO:0001819	synonymous_variant	2635	exon2			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.69G>A	1.37:g.89486336C>T		Somatic		Capture	SOLID	Phase_I	89258924	NM_018284	A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Silent	SNP	ENST00000370481.4	37	CCDS717.2																																																																																				0.517	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	NM_018284	
LRRC8D	55144	hgsc.bcm.edu	37	1	90399380	90399380	+	Silent	SNP	A	A	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:90399380A>G	ENST00000337338.5	+	3	1160	c.753A>G	c.(751-753)acA>acG	p.T251T	LRRC8D_ENST00000394593.3_Silent_p.T251T	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	251					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.T251T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GTGCCAGTACACCAATGATCA	0.463																																					p.T251T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A753G	1						.						52.0	50.0	51.0					1																	90399380		2203	4300	6503	90171968	SO:0001819	synonymous_variant	55144	exon3			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.753A>G	1.37:g.90399380A>G		Somatic		Capture	SOLID	Phase_I	90171968	NM_001134479	D3DT29|Q6UWB2|Q9NVW3	Silent	SNP	ENST00000337338.5	37	CCDS726.1																																																																																				0.463	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103	
OR2B11	127623	hgsc.bcm.edu	37	1	247614814	247614814	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr1:247614814G>A	ENST00000318749.6	-	1	494	c.471C>T	c.(469-471)ttC>ttT	p.F157F		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F157F(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGGAGTTGCCGAAGCCACTGA	0.607																																					p.F157F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C471T	1						.						58.0	49.0	52.0					1																	247614814		2203	4300	6503	245681437	SO:0001819	synonymous_variant	127623	exon1				CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.471C>T	1.37:g.247614814G>A		Somatic		Capture	SOLID	Phase_I	245681437	NM_001004492	B2RP03	Silent	SNP	ENST00000318749.6	37	CCDS31090.1																																																																																				0.607	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492	
CCNC	892	hgsc.bcm.edu	37	6	100009477	100009477	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:100009477C>T	ENST00000520429.1	-	3	665	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	CCNC_ENST00000518714.1_Missense_Mutation_p.A74T|CCNC_ENST00000523985.1_5'UTR|CCNC_ENST00000520371.1_Missense_Mutation_p.A74T|CCNC_ENST00000369220.4_Missense_Mutation_p.A74T|CCNC_ENST00000482541.2_Missense_Mutation_p.A74T|CCNC_ENST00000523799.1_5'UTR|CCNC_ENST00000521017.1_5'UTR	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C	74	Cyclin N-terminal.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|mediator complex (GO:0016592)|nucleoplasm (GO:0005654)		p.A74T(1)					all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		TCCTACCTGGCATAGAATCTC	0.313																																					p.A74T	GBM(57;273 1020 40094 44454 49348)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G220A	6						.						76.0	85.0	82.0					6																	100009477		2202	4293	6495	100116198	SO:0001583	missense	892	exon3				CCDS34502.1, CCDS47461.1	6q21	2008-02-05			ENSG00000112237	ENSG00000112237			1581	protein-coding gene	gene with protein product		123838				1833066	Standard	XM_005267202		Approved	CycC	uc003pqe.3	P24863	OTTHUMG00000015268	ENST00000520429.1:c.220G>A	6.37:g.100009477C>T	ENSP00000428982:p.Ala74Thr	Somatic		Capture	SOLID	Phase_I	100116198	NM_005190	B4DPZ1|Q9H543	Missense_Mutation	SNP	ENST00000520429.1	37	CCDS34502.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542499	0.85917	.	.	ENSG00000112237	ENST00000520429;ENST00000369220;ENST00000520371;ENST00000486428;ENST00000518714;ENST00000369217;ENST00000482541	T;T;T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77;2.77;2.77	5.76	5.76	0.90799	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.13030	0.0316	L	0.31752	0.955	0.80722	D	1	P;D;P	0.63046	0.935;0.992;0.935	B;P;B	0.59288	0.437;0.855;0.437	T	0.06267	-1.0836	9	.	.	.	.	20.3316	0.98722	0.0:1.0:0.0:0.0	.	74;107;74	Q7Z4L3;Q05CF7;P24863	.;.;CCNC_HUMAN	T	74;74;74;20;74;121;74	ENSP00000428982:A74T;ENSP00000358222:A74T;ENSP00000430381:A74T;ENSP00000430077:A20T;ENSP00000430294:A74T;ENSP00000428472:A121T;ENSP00000417072:A74T	.	A	-	1	0	CCNC	100116198	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.584000	0.82572	2.871000	0.98454	0.655000	0.94253	GCC		0.313	CCNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041613.2	NM_005190	
ASCC3	10973	hgsc.bcm.edu	37	6	100960736	100960736	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:100960736G>A	ENST00000369162.2	-	40	6478	c.6134C>T	c.(6133-6135)tCg>tTg	p.S2045L		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	2045	SEC63 2.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.S2045L(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTCATCCCACGAGCCTTTAAC	0.378																																					p.S2045L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6134T	6						.						124.0	102.0	109.0					6																	100960736		2203	4300	6503	101067457	SO:0001583	missense	10973	exon40			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.6134C>T	6.37:g.100960736G>A	ENSP00000358159:p.Ser2045Leu	Somatic		Capture	SOLID	Phase_I	101067457	NM_006828	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.952410	0.34471	.	.	ENSG00000112249	ENST00000369162	T	0.59638	0.25	5.74	3.86	0.44501	Sec63 domain (3);	0.290914	0.35772	N	0.002982	T	0.37210	0.0995	L	0.49126	1.545	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.32134	-0.9918	10	0.30854	T	0.27	.	16.5814	0.84716	0.0:0.6034:0.3966:0.0	.	2045	Q8N3C0	HELC1_HUMAN	L	2045	ENSP00000358159:S2045L	ENSP00000358159:S2045L	S	-	2	0	ASCC3	101067457	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	3.702000	0.54800	1.450000	0.47717	0.655000	0.94253	TCG		0.378	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828	
POPDC3	64208	hgsc.bcm.edu	37	6	105606457	105606457	+	Missense_Mutation	SNP	C	C	A	rs202208117		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:105606457C>A	ENST00000254765.3	-	4	1042	c.764G>T	c.(763-765)aGa>aTa	p.R255I	BVES-AS1_ENST00000580511.1_RNA|POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000369122.3_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	255					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)		p.R255K(1)|p.R255I(1)		NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				ATAGTGATATCTTTTTCCTAT	0.413																																					p.R255I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G764T	6						.						142.0	142.0	142.0					6																	105606457		2203	4300	6503	105713150	SO:0001583	missense	64208	exon4			BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.764G>T	6.37:g.105606457C>A	ENSP00000254765:p.Arg255Ile	Somatic		Capture	SOLID	Phase_I	105713150	NM_022361	B2RA98|Q5T3Y8|Q8TBW6	Missense_Mutation	SNP	ENST00000254765.3	37	CCDS5052.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.829055	0.50845	.	.	ENSG00000132429	ENST00000254765;ENST00000429112	T	0.29655	1.56	5.99	3.27	0.37495	.	0.377302	0.31051	N	0.008348	T	0.06872	0.0175	N	0.08118	0	0.34954	D	0.751512	B	0.22909	0.077	B	0.25614	0.062	T	0.09684	-1.0663	10	0.72032	D	0.01	-29.8198	9.2738	0.37688	0.0:0.7476:0.1286:0.1238	.	255	Q9HBV1	POPD3_HUMAN	I	255;101	ENSP00000254765:R255I	ENSP00000254765:R255I	R	-	2	0	POPDC3	105713150	0.859000	0.29813	0.981000	0.43875	0.812000	0.45895	1.584000	0.36589	0.424000	0.26061	0.591000	0.81541	AGA		0.413	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1	NM_022361	
AIM1	202	hgsc.bcm.edu	37	6	107009238	107009238	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:107009238C>T	ENST00000369066.3	+	18	5264	c.4777C>T	c.(4777-4779)Cga>Tga	p.R1593*	AIM1_ENST00000535438.1_Nonsense_Mutation_p.R412*	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.R1593*(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)		TTTCAGACTTCGAAACAAAGC	0.438																																					p.R1593X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4777T	6						.						89.0	91.0	90.0					6																	107009238		2203	4300	6503	107115931	SO:0001587	stop_gained	202	exon18			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.4777C>T	6.37:g.107009238C>T	ENSP00000358062:p.Arg1593*	Somatic		Capture	SOLID	Phase_I	107115931	NM_001624	Q6P2P0|Q9BTM3	Nonsense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	48	14.719012	0.99807	.	.	ENSG00000112297	ENST00000369066;ENST00000535438	.	.	.	5.84	4.97	0.65823	.	0.000000	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5397	0.45026	0.1331:0.7982:0.0:0.0687	.	.	.	.	X	1593;412	.	ENSP00000358062:R1593X	R	+	1	2	AIM1	107115931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.134000	0.50538	1.481000	0.48307	0.655000	0.94253	CGA		0.438	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1		
ROS1	6098	hgsc.bcm.edu	37	6	117641189	117641189	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:117641189G>A	ENST00000368508.3	-	36	5980	c.5782C>T	c.(5782-5784)Ctt>Ttt	p.L1928F	ROS1_ENST00000368507.3_Missense_Mutation_p.L1922F|GOPC_ENST00000467125.1_5'UTR	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1928					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L1928F(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGGGTTGGAAGAGTACTGTAA	0.433			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																p.L1928F			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5782T	6						.						69.0	65.0	66.0					6																	117641189		2203	4300	6503	117747882	SO:0001583	missense	6098	exon36			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.5782C>T	6.37:g.117641189G>A	ENSP00000357494:p.Leu1928Phe	Somatic		Capture	SOLID	Phase_I	117747882	NM_002944	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439306	0.63067	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.73575	-0.76;-0.76	5.65	3.85	0.44370	.	0.237349	0.28114	N	0.016544	T	0.57932	0.2087	L	0.28400	0.85	0.80722	D	1	P	0.50066	0.931	P	0.49752	0.621	T	0.61173	-0.7116	10	0.48119	T	0.1	.	11.0992	0.48163	0.0703:0.1288:0.8009:0.0	.	1928	P08922	ROS1_HUMAN	F	1928;1922	ENSP00000357494:L1928F;ENSP00000357493:L1922F	ENSP00000357493:L1922F	L	-	1	0	ROS1	117747882	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	3.584000	0.53936	0.832000	0.34804	0.655000	0.94253	CTT		0.433	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		
HEY2	23493	hgsc.bcm.edu	37	6	126080312	126080312	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:126080312C>T	ENST00000368364.3	+	5	575	c.378C>T	c.(376-378)ttC>ttT	p.F126F	HEY2_ENST00000368365.1_Silent_p.F80F	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	126	Orange. {ECO:0000255|PROSITE- ProRule:PRU00380}.				anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.F126F(1)		breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		GCATAGGATTCCGAGAGTGCC	0.562																																					p.F126F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C378T	6						.						132.0	121.0	125.0					6																	126080312		2203	4300	6503	126122005	SO:0001819	synonymous_variant	23493	exon5			AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.378C>T	6.37:g.126080312C>T		Somatic		Capture	SOLID	Phase_I	126122005	NM_012259		Silent	SNP	ENST00000368364.3	37	CCDS5131.1																																																																																				0.562	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1		
RSPO3	84870	hgsc.bcm.edu	37	6	127517025	127517025	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:127517025C>T	ENST00000356698.4	+	5	1281	c.692C>T	c.(691-693)gCa>gTa	p.A231V	RSPO3_ENST00000368317.3_Missense_Mutation_p.A231V	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	231					branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)	extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.A231V(1)	PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		agtaaagaaGCAATACCTGAC	0.348																																					p.A231V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C692T	6						.						102.0	101.0	101.0					6																	127517025		2203	4300	6503	127558718	SO:0001583	missense	84870	exon5			BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374		"""Endogenous ligands"""	20866	protein-coding gene	gene with protein product		610574	"""thrombospondin, type I, domain containing 2"", ""R-spondin 3 homolog (Xenopus laevis)"""	THSD2		10842357, 15469841	Standard	NM_032784		Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.692C>T	6.37:g.127517025C>T	ENSP00000349131:p.Ala231Val	Somatic		Capture	SOLID	Phase_I	127558718	NM_032784	B2RC27|Q5VTV4|Q96K87	Missense_Mutation	SNP	ENST00000356698.4	37	CCDS5135.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160216	0.38119	.	.	ENSG00000146374	ENST00000356698;ENST00000368317	T;T	0.79247	-1.25;-1.25	5.65	4.78	0.61160	.	1.144630	0.06336	N	0.707123	T	0.50274	0.1606	N	0.24115	0.695	0.21604	N	0.999627	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.47114	-0.9142	10	0.30854	T	0.27	-37.9378	13.1912	0.59711	0.0:0.9261:0.0:0.0739	.	231;231	Q9BXY4-2;Q9BXY4	.;RSPO3_HUMAN	V	231	ENSP00000349131:A231V;ENSP00000357300:A231V	ENSP00000349131:A231V	A	+	2	0	RSPO3	127558718	0.347000	0.24853	0.837000	0.33122	0.864000	0.49448	2.382000	0.44345	1.387000	0.46486	0.467000	0.42956	GCA		0.348	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042111.1	NM_032784	
PTPRK	5796	hgsc.bcm.edu	37	6	128319909	128319909	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:128319909G>A	ENST00000368215.3	-	16	2631	c.2632C>T	c.(2632-2634)Ctc>Ttc	p.L878F	PTPRK_ENST00000368226.4_Missense_Mutation_p.L879F|PTPRK_ENST00000368213.5_Missense_Mutation_p.L879F|PTPRK_ENST00000524481.1_5'Flank|PTPRK_ENST00000368227.3_Missense_Mutation_p.L891F|PTPRK_ENST00000368207.3_Missense_Mutation_p.L905F|PTPRK_ENST00000368210.3_Missense_Mutation_p.L891F|PTPRK_ENST00000532331.1_Missense_Mutation_p.L895F			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	878					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L879F(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GTCTTCATGAGATTAATGTGC	0.433																																					p.L879F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2635T	6						.						138.0	128.0	131.0					6																	128319909		2203	4300	6503	128361602	SO:0001583	missense	5796	exon16			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.2632C>T	6.37:g.128319909G>A	ENSP00000357198:p.Leu878Phe	Somatic		Capture	SOLID	Phase_I	128361602	NM_001135648	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37		.	.	.	.	.	.	.	.	.	.	G	26.1	4.700244	0.88924	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000415055	T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;2.74	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.40171	0.1106	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.59357	0.974;0.985;0.974;0.985	P;P;D;D	0.69654	0.515;0.709;0.924;0.965	T	0.26815	-1.0092	10	0.72032	D	0.01	.	19.7149	0.96113	0.0:0.0:1.0:0.0	.	895;879;878;879	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	F	879;891;895;879;891;878;905;138	ENSP00000357209:L879F;ENSP00000357210:L891F;ENSP00000432973:L895F;ENSP00000357196:L879F;ENSP00000357193:L891F;ENSP00000357198:L878F;ENSP00000357190:L905F;ENSP00000408180:L138F	ENSP00000357190:L905F	L	-	1	0	PTPRK	128361602	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.716000	0.74702	2.648000	0.89879	0.650000	0.86243	CTC		0.433	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1		
SAMD3	154075	hgsc.bcm.edu	37	6	130465892	130465892	+	Missense_Mutation	SNP	C	C	T	rs144249057		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:130465892C>T	ENST00000368134.2	-	14	1944	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	RP11-73O6.3_ENST00000415964.1_RNA|SAMD3_ENST00000457563.2_Missense_Mutation_p.E470K|SAMD3_ENST00000439090.2_Missense_Mutation_p.E446K|SAMD3_ENST00000437477.2_Missense_Mutation_p.E446K|RP11-73O6.3_ENST00000609978.1_RNA	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	446								p.E446K(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		AAAGAAAATTCGCAGACCTCC	0.423													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18047	0.0		0.0	False		,,,				2504	0.0				p.E446K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1336A	6						.	C	LYS/GLU	0,4406		0,0,2203	47.0	49.0	48.0		1336	5.2	1.0	6	dbSNP_134	48	1,8599	1.2+/-3.3	0,1,4299	no	missense	SAMD3	NM_001017373.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	446/521	130465892	1,13005	2203	4300	6503	130507585	SO:0001583	missense	154075	exon12			AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.1336G>A	6.37:g.130465892C>T	ENSP00000357116:p.Glu446Lys	Somatic		Capture	SOLID	Phase_I	130507585	NM_001017373	B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	37	CCDS34539.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	17.43	3.386683	0.61956	0.0	1.16E-4	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477	T;T;T;T	0.53206	0.65;0.63;0.65;0.65	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000009	T	0.34395	0.0896	M	0.64997	1.995	0.80722	D	1	D	0.58970	0.984	B	0.43575	0.424	T	0.16041	-1.0416	10	0.33141	T	0.24	.	12.7772	0.57455	0.0:0.9208:0.0:0.0792	.	446	Q8N6K7	SAMD3_HUMAN	K	446;470;446;446	ENSP00000357116:E446K;ENSP00000402092:E470K;ENSP00000403565:E446K;ENSP00000391163:E446K	ENSP00000357116:E446K	E	-	1	0	SAMD3	130507585	1.000000	0.71417	0.991000	0.47740	0.214000	0.24535	2.555000	0.45854	2.586000	0.87340	0.563000	0.77884	GAA		0.423	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552	
ENPP3	5169	hgsc.bcm.edu	37	6	132006525	132006525	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:132006525A>G	ENST00000414305.1	+	14	1470	c.1142A>G	c.(1141-1143)aAc>aGc	p.N381S	ENPP3_ENST00000357639.3_Missense_Mutation_p.N381S|ENPP3_ENST00000358229.5_Missense_Mutation_p.N381S			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	381	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.N381S(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		ACTTATTGTAACAAGATGGAA	0.373																																					p.N381S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1142G	6						.						108.0	119.0	115.0					6																	132006525		2203	4300	6503	132048218	SO:0001583	missense	5169	exon13			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1142A>G	6.37:g.132006525A>G	ENSP00000406261:p.Asn381Ser	Somatic		Capture	SOLID	Phase_I	132048218	NM_005021	Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.364010	0.41902	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.77229	-1.08;-1.08;-1.08	5.69	4.52	0.55395	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.503793	0.22714	N	0.056528	T	0.37705	0.1013	N	0.01874	-0.695	0.80722	D	1	B	0.06786	0.001	B	0.15052	0.012	T	0.44267	-0.9339	10	0.51188	T	0.08	-8.0407	11.0108	0.47661	0.9244:0.0:0.0756:0.0	.	381	O14638	ENPP3_HUMAN	S	381	ENSP00000406261:N381S;ENSP00000350265:N381S;ENSP00000350964:N381S	ENSP00000350265:N381S	N	+	2	0	ENPP3	132048218	0.976000	0.34144	0.937000	0.37676	0.821000	0.46438	2.633000	0.46519	2.182000	0.69389	0.482000	0.46254	AAC		0.373	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2		
MOXD1	26002	hgsc.bcm.edu	37	6	132694080	132694080	+	Silent	SNP	A	A	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:132694080A>G	ENST00000367963.3	-	3	586	c.468T>C	c.(466-468)ggT>ggC	p.G156G	MOXD1_ENST00000336749.3_Silent_p.G88G	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	156						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.G156G(1)|p.G88G(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)		GGTACTTGGGACCAGCTTCTC	0.483																																					p.G156G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T468C	6						.						139.0	124.0	129.0					6																	132694080		2203	4300	6503	132735773	SO:0001819	synonymous_variant	26002	exon3			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.468T>C	6.37:g.132694080A>G		Somatic		Capture	SOLID	Phase_I	132735773	NM_015529	Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Silent	SNP	ENST00000367963.3	37	CCDS5152.2																																																																																				0.483	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529	
VNN1	8876	hgsc.bcm.edu	37	6	133014266	133014266	+	Silent	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:133014266A>C	ENST00000367928.4	-	4	736	c.723T>G	c.(721-723)gtT>gtG	p.V241V		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	241	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.V241V(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)		AATGTGGCAAAACATTCATCC	0.423																																					p.V241V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T723G	6						.						140.0	120.0	127.0					6																	133014266		2203	4300	6503	133055959	SO:0001819	synonymous_variant	8876	exon4			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.723T>G	6.37:g.133014266A>C		Somatic		Capture	SOLID	Phase_I	133055959	NM_004666	A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Silent	SNP	ENST00000367928.4	37	CCDS5159.1																																																																																				0.423	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1		
SLC2A12	154091	hgsc.bcm.edu	37	6	134350241	134350241	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:134350241C>T	ENST00000275230.5	-	2	877	c.722G>A	c.(721-723)aGa>aAa	p.R241K		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	241					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.R241K(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TGAGAGTGCTCTTAACCTTCC	0.428																																					p.R241K	Melanoma(122;1663 1672 14489 35294 41228)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G722A	6						.						74.0	74.0	74.0					6																	134350241		2203	4300	6503	134391934	SO:0001583	missense	154091	exon2			AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"""Solute carriers"""	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.722G>A	6.37:g.134350241C>T	ENSP00000275230:p.Arg241Lys	Somatic		Capture	SOLID	Phase_I	134391934	NM_145176	B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	ENST00000275230.5	37	CCDS5169.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412622	0.62511	.	.	ENSG00000146411	ENST00000275230	T	0.75367	-0.93	5.4	5.4	0.78164	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.165996	0.51477	D	0.000086	T	0.76608	0.4011	M	0.87682	2.9	0.35627	D	0.809948	P	0.43314	0.803	B	0.43575	0.424	T	0.81707	-0.0810	10	0.48119	T	0.1	-19.9477	19.174	0.93594	0.0:1.0:0.0:0.0	.	241	Q8TD20	GTR12_HUMAN	K	241	ENSP00000275230:R241K	ENSP00000275230:R241K	R	-	2	0	SLC2A12	134391934	0.995000	0.38212	0.076000	0.20297	0.556000	0.35491	5.741000	0.68638	2.542000	0.85734	0.467000	0.42956	AGA		0.428	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1		
MAP7	9053	hgsc.bcm.edu	37	6	136709572	136709572	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:136709572C>T	ENST00000354570.3	-	5	895	c.485G>A	c.(484-486)tGg>tAg	p.W162*	MAP7_ENST00000432797.2_Nonsense_Mutation_p.W16*|MAP7_ENST00000438100.2_Nonsense_Mutation_p.W184*|MAP7_ENST00000544465.1_Nonsense_Mutation_p.W147*|MAP7_ENST00000454590.1_Nonsense_Mutation_p.W184*	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	162					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.W162*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AGAGCCTCCCCACGACCAACG	0.483																																					p.W16X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G47A	6						.						259.0	225.0	236.0					6																	136709572		2203	4300	6503	136751265	SO:0001587	stop_gained	9053	exon5			X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.485G>A	6.37:g.136709572C>T	ENSP00000346581:p.Trp162*	Somatic		Capture	SOLID	Phase_I	136751265	NM_001198619	B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Nonsense_Mutation	SNP	ENST00000354570.3	37	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	C	37	6.011139	0.97200	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797	.	.	.	6.06	6.06	0.98353	.	0.000000	0.52532	D	0.000074	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.111	20.6208	0.99490	0.0:1.0:0.0:0.0	.	.	.	.	X	162;184;147;184;16	.	ENSP00000346581:W162X	W	-	2	0	MAP7	136751265	1.000000	0.71417	0.998000	0.56505	0.819000	0.46315	5.488000	0.66869	2.882000	0.98803	0.655000	0.94253	TGG		0.483	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980	
SYNE1	23345	hgsc.bcm.edu	37	6	152787190	152787190	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:152787190G>T	ENST00000367255.5	-	17	2257	c.1656C>A	c.(1654-1656)ttC>ttA	p.F552L	SYNE1_ENST00000367248.3_Missense_Mutation_p.F542L|SYNE1_ENST00000265368.4_Missense_Mutation_p.F552L|SYNE1_ENST00000423061.1_Missense_Mutation_p.F559L|SYNE1_ENST00000448038.1_Missense_Mutation_p.F559L|SYNE1_ENST00000367253.4_Missense_Mutation_p.F552L|SYNE1_ENST00000495090.2_Missense_Mutation_p.F119L|SYNE1_ENST00000466159.2_Missense_Mutation_p.F552L|SYNE1_ENST00000413186.2_Missense_Mutation_p.F552L|SYNE1_ENST00000341594.5_Missense_Mutation_p.F559L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	552					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.F552L(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)		ATTGTTCAAAGAACTTGCTAT	0.348										HNSCC(10;0.0054)																											p.F552L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1656A	6						.						111.0	101.0	105.0					6																	152787190		2202	4299	6501	152828883	SO:0001583	missense	23345	exon17			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.1656C>A	6.37:g.152787190G>T	ENSP00000356224:p.Phe552Leu	Somatic		Capture	SOLID	Phase_I	152828883	NM_182961	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	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846854	0.71603	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090;ENST00000466159;ENST00000537750	T;T;T;T;T;D;D;D;T;D;D	0.90955	0.62;0.61;0.53;0.61;0.79;-2.2;-2.32;-2.33;2.18;-2.59;-2.76	5.79	4.92	0.64577	.	0.000000	0.64402	D	0.000009	D	0.88815	0.6539	L	0.46947	1.48	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.998;1.0;0.999;0.982;1.0;1.0;0.999	D;D;D;D;D;D;D	0.91635	0.99;0.997;0.997;0.935;0.999;0.997;0.997	D	0.86715	0.1938	10	0.10111	T	0.7	.	11.6724	0.51411	0.1413:0.0:0.8587:0.0	.	535;552;552;119;542;552;559	B3W695;Q8NF91;F5H4Q0;F5H422;F5GXQ8;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	L	552;559;552;559;559;552;542;552;119;552;535	ENSP00000356224:F552L;ENSP00000396024:F559L;ENSP00000265368:F552L;ENSP00000390975:F559L;ENSP00000341887:F559L;ENSP00000356222:F552L;ENSP00000356217:F542L;ENSP00000414510:F552L;ENSP00000438508:F119L;ENSP00000446021:F552L;ENSP00000441264:F535L	ENSP00000265368:F552L	F	-	3	2	SYNE1	152828883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.695000	0.61767	1.447000	0.47661	0.655000	0.94253	TTC		0.348	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
FBXO5	26271	hgsc.bcm.edu	37	6	153293519	153293519	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:153293519G>A	ENST00000229758.3	-	4	1038	c.980C>T	c.(979-981)tCt>tTt	p.S327F	FBXO5_ENST00000477822.1_5'UTR|FBXO5_ENST00000367241.3_Missense_Mutation_p.S281F	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	327					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.S327F(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)		TTTCTGAACAGAAGCCAGTGG	0.343																																					p.S327F	NSCLC(121;372 1757 17721 17977 29669)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C980T	6						.						114.0	112.0	113.0					6																	153293519		2203	4300	6503	153335212	SO:0001583	missense	26271	exon4			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.980C>T	6.37:g.153293519G>A	ENSP00000229758:p.Ser327Phe	Somatic		Capture	SOLID	Phase_I	153335212	NM_012177	B3KNX5|Q5TF47|Q8WV29|Q9UGC8	Missense_Mutation	SNP	ENST00000229758.3	37	CCDS5242.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488393	0.64074	.	.	ENSG00000112029	ENST00000229758;ENST00000367241	T;T	0.36157	1.27;1.28	5.75	4.87	0.63330	.	0.151679	0.64402	D	0.000011	T	0.44664	0.1304	M	0.71036	2.16	0.42923	D	0.994292	D	0.71674	0.998	P	0.62014	0.897	T	0.51426	-0.8707	10	0.66056	D	0.02	-10.3617	12.0425	0.53460	0.0:0.1354:0.732:0.1326	.	327	Q9UKT4	FBX5_HUMAN	F	327;281	ENSP00000229758:S327F;ENSP00000356210:S281F	ENSP00000229758:S327F	S	-	2	0	FBXO5	153335212	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	3.073000	0.50057	1.376000	0.46267	0.655000	0.94253	TCT		0.343	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042757.1		
RGS17	26575	hgsc.bcm.edu	37	6	153332791	153332791	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:153332791C>T	ENST00000367225.2	-	4	575	c.551G>A	c.(550-552)aGa>aAa	p.R184K	RGS17_ENST00000206262.1_Missense_Mutation_p.R184K			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	184	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.R184K(1)		cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		AAAAGAATCTCTGTGCATTAA	0.338																																					p.R184K	Esophageal Squamous(78;500 1236 6775 24364 49058)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G551A	6						.						58.0	59.0	58.0					6																	153332791		2203	4300	6503	153374484	SO:0001583	missense	26575	exon5			AF202257	CCDS5244.1	6q25-q26	2009-05-29	2007-08-14		ENSG00000091844	ENSG00000091844		"""Regulators of G-protein signaling"""	14088	protein-coding gene	gene with protein product		607191	"""regulator of G-protein signalling 17"""			10419452	Standard	NM_012419		Approved	RGSZ2, RGS-17	uc003qpm.3	Q9UGC6	OTTHUMG00000015858	ENST00000367225.2:c.551G>A	6.37:g.153332791C>T	ENSP00000356194:p.Arg184Lys	Somatic		Capture	SOLID	Phase_I	153374484	NM_012419	Q5TF49|Q8TD61|Q9UJS8	Missense_Mutation	SNP	ENST00000367225.2	37	CCDS5244.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236807	0.79800	.	.	ENSG00000091844	ENST00000367225;ENST00000206262	T;T	0.01665	4.7;4.7	5.19	5.19	0.71726	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.03564	0.0102	L	0.52823	1.66	0.80722	D	1	P	0.49635	0.926	P	0.60949	0.881	T	0.65166	-0.6234	10	0.19147	T	0.46	-15.4807	19.1288	0.93396	0.0:1.0:0.0:0.0	.	184	Q9UGC6	RGS17_HUMAN	K	184	ENSP00000356194:R184K;ENSP00000206262:R184K	ENSP00000206262:R184K	R	-	2	0	RGS17	153374484	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.734000	0.84928	2.585000	0.87301	0.551000	0.68910	AGA		0.338	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042773.2		
NOX3	50508	hgsc.bcm.edu	37	6	155752020	155752020	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:155752020A>C	ENST00000159060.2	-	8	950	c.848T>G	c.(847-849)aTa>aGa	p.I283R		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	283	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)	p.I283R(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GAACCTAATTATTCTTTCACA	0.363																																					p.I283R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T848G	6						.						97.0	91.0	93.0					6																	155752020		2203	4300	6503	155793712	SO:0001583	missense	50508	exon8			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.848T>G	6.37:g.155752020A>C	ENSP00000159060:p.Ile283Arg	Somatic		Capture	SOLID	Phase_I	155793712	NM_015718	Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.960630	0.74016	.	.	ENSG00000074771	ENST00000159060	D	0.95949	-3.86	5.86	5.86	0.93980	.	0.072305	0.64402	D	0.000020	D	0.95915	0.8670	M	0.84433	2.695	0.80722	D	1	P	0.47409	0.895	P	0.47470	0.548	D	0.96533	0.9394	10	0.87932	D	0	-13.9855	16.5602	0.84551	1.0:0.0:0.0:0.0	.	283	Q9HBY0	NOX3_HUMAN	R	283	ENSP00000159060:I283R	ENSP00000159060:I283R	I	-	2	0	NOX3	155793712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.366000	0.90111	2.367000	0.80283	0.528000	0.53228	ATA		0.363	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1		
SYNJ2	8871	hgsc.bcm.edu	37	6	158438264	158438264	+	Silent	SNP	A	A	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:158438264A>G	ENST00000355585.4	+	2	231	c.156A>G	c.(154-156)ggA>ggG	p.G52G	SYNJ2_ENST00000367121.3_Silent_p.G52G|SYNJ2_ENST00000367122.2_Silent_p.G52G|SYNJ2_ENST00000449859.2_5'Flank	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	52					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.G52G(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TCATTAAAGGACAGTATGGCA	0.582																																					p.G52G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A156G	6						.						55.0	53.0	54.0					6																	158438264		2203	4300	6503	158358252	SO:0001819	synonymous_variant	8871	exon2			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.156A>G	6.37:g.158438264A>G		Somatic		Capture	SOLID	Phase_I	158358252	NM_003898	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	37	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.666844	0.29604	.	.	ENSG00000078269	ENST00000367113	.	.	.	5.13	0.0509	0.14296	.	.	.	.	.	T	0.37652	0.1011	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35176	-0.9799	4	.	.	.	.	5.7715	0.18255	0.5299:0.1646:0.3055:0.0	.	.	.	.	G	27	.	.	D	+	2	0	SYNJ2	158358252	1.000000	0.71417	0.988000	0.46212	0.997000	0.91878	0.781000	0.26774	1.121000	0.41925	0.655000	0.94253	GAC		0.582	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2		
T	6862	hgsc.bcm.edu	37	6	166580281	166580281	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:166580281G>T	ENST00000296946.2	-	3	738	c.270C>A	c.(268-270)ttC>ttA	p.F90L	T_ENST00000366871.3_Missense_Mutation_p.F90L	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	90					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.F90L(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)		AGTCCAGCAGGAAGGAGTACA	0.662									Chordoma, Familial Clustering of																												p.F90L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C270A	6						.						67.0	58.0	61.0					6																	166580281		2203	4300	6503	166500271	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.270C>A	6.37:g.166580281G>T	ENSP00000296946:p.Phe90Leu	Somatic		Capture	SOLID	Phase_I	166500271	NM_003181	E7ERD6|Q4KMP4	Missense_Mutation	SNP	ENST00000296946.2	37	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	G	5.700	0.313703	0.10789	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	T;T;T	0.76968	-1.06;-1.06;-1.06	4.62	1.8	0.24995	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.20700	0.0498	N	0.01096	-1.015	0.48762	D	0.999702	B;B;B	0.13594	0.008;0.001;0.001	B;B;B	0.23150	0.044;0.009;0.009	T	0.40831	-0.9542	10	0.02654	T	1	.	8.2851	0.31924	0.3357:0.0:0.6643:0.0	.	90;90;90	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	L	90	ENSP00000355841:F90L;ENSP00000296946:F90L;ENSP00000355836:F90L	ENSP00000296946:F90L	F	-	3	2	T	166500271	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.769000	0.38522	0.501000	0.28013	0.655000	0.94253	TTC		0.662	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181	
THBS2	7058	hgsc.bcm.edu	37	6	169626362	169626362	+	Silent	SNP	G	G	A	rs369239097		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:169626362G>A	ENST00000366787.3	-	17	2700	c.2451C>T	c.(2449-2451)taC>taT	p.Y817Y	THBS2_ENST00000488355.1_5'Flank|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	817					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.Y817Y(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TGTTGTAGACGTAGGGACAAT	0.502																																					p.Y817Y	Esophageal Squamous(91;219 1934 18562 44706)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2451T	6						.	G		0,4406		0,0,2203	108.0	101.0	103.0		2451	-4.8	0.6	6		103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	THBS2	NM_003247.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		817/1173	169626362	1,13005	2203	4300	6503	169368287	SO:0001819	synonymous_variant	7058	exon17				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.2451C>T	6.37:g.169626362G>A		Somatic		Capture	SOLID	Phase_I	169368287	NM_003247	A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	CCDS34574.1																																																																																				0.502	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247	
NUP153	9972	hgsc.bcm.edu	37	6	17669558	17669558	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:17669558C>A	ENST00000262077.2	-	7	979	c.980G>T	c.(979-981)aGa>aTa	p.R327I	NUP153_ENST00000537253.1_Missense_Mutation_p.R327I	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	327					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.R327I(1)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GGATGGAATTCTTTTTGCATC	0.279																																					p.R327I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G980T	6						.						54.0	59.0	57.0					6																	17669558		2202	4300	6502	17777537	SO:0001583	missense	9972	exon7			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.980G>T	6.37:g.17669558C>A	ENSP00000262077:p.Arg327Ile	Somatic		Capture	SOLID	Phase_I	17777537	NM_005124	B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123382	0.77436	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.56611	0.45;0.45	5.55	5.55	0.83447	Nucleoporin, Nup153-like (1);	0.000000	0.52532	D	0.000071	T	0.70885	0.3275	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.74213	-0.3738	10	0.87932	D	0	-20.6917	19.4933	0.95060	0.0:1.0:0.0:0.0	.	327;349;327	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	I	327;349;327	ENSP00000262077:R327I;ENSP00000444029:R327I	ENSP00000262077:R327I	R	-	2	0	NUP153	17777537	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.781000	0.75068	2.613000	0.88420	0.563000	0.77884	AGA		0.279	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1		
BTN3A1	11119	hgsc.bcm.edu	37	6	26407963	26407963	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:26407963C>A	ENST00000289361.6	+	4	866	c.498C>A	c.(496-498)tgC>tgA	p.C166*	BTN3A1_ENST00000414912.2_Intron|BTN3A1_ENST00000425234.2_Nonsense_Mutation_p.C166*|BTN3A1_ENST00000476549.2_Nonsense_Mutation_p.C166*	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	166	Ig-like V-type 2.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C166*(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						ATCTGGAGTGCAGGTCCACTG	0.522																																					p.C166X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C498A	6						.						127.0	109.0	115.0					6																	26407963		2203	4300	6503	26515942	SO:0001587	stop_gained	11119	exon4			U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.498C>A	6.37:g.26407963C>A	ENSP00000289361:p.Cys166*	Somatic		Capture	SOLID	Phase_I	26515942	NM_001145009	A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Nonsense_Mutation	SNP	ENST00000289361.6	37	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	37	6.603504	0.97697	.	.	ENSG00000026950	ENST00000476549;ENST00000289361;ENST00000425234	.	.	.	2.0	1.11	0.20524	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.4058	0.11409	0.0:0.7955:0.0:0.2045	.	.	.	.	X	166	.	ENSP00000289361:C166X	C	+	3	2	BTN3A1	26515942	0.006000	0.16342	0.019000	0.16419	0.813000	0.45954	-0.385000	0.07379	0.398000	0.25338	0.511000	0.50034	TGC		0.522	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3		
TMEM217	221468	hgsc.bcm.edu	37	6	37186253	37186253	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:37186253G>A	ENST00000336655.2	-	2	593	c.554C>T	c.(553-555)tCg>tTg	p.S185L	TMEM217_ENST00000497775.1_Intron|TMEM217_ENST00000356757.2_Missense_Mutation_p.S185L	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	185						integral component of membrane (GO:0016021)		p.S185L(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						gaacccACTCGAAATTGATAA	0.478																																					p.S185L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C554T	6						.						54.0	57.0	56.0					6																	37186253		2203	4299	6502	37294231	SO:0001583	missense	221468	exon2				CCDS4831.1, CCDS69102.1	6p21.31-p21.2	2008-10-20	2008-07-07	2008-07-07	ENSG00000172738	ENSG00000172738			21238	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 128"""	C6orf128			Standard	NM_001162900		Approved	dJ355M6.2	uc010jws.3	Q8N7C4	OTTHUMG00000014618	ENST00000336655.2:c.554C>T	6.37:g.37186253G>A	ENSP00000338164:p.Ser185Leu	Somatic		Capture	SOLID	Phase_I	37294231	NM_001162900	Q8TC54	Missense_Mutation	SNP	ENST00000336655.2	37	CCDS4831.1	.	.	.	.	.	.	.	.	.	.	A	6.016	0.371295	0.11409	.	.	ENSG00000172738	ENST00000356757;ENST00000336655	.	.	.	1.86	-1.7	0.08159	.	.	.	.	.	T	0.04497	0.0123	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39722	-0.9600	8	0.32370	T	0.25	-0.5867	7.6614	0.28404	0.341:0.0:0.659:0.0	.	185;185	Q8N7C4-2;Q8N7C4	.;TM217_HUMAN	L	185	.	ENSP00000338164:S185L	S	-	2	0	TMEM217	37294231	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.025000	0.03600	-1.010000	0.03396	-0.768000	0.03414	TCG		0.478	TMEM217-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357542.1	NM_145316	
TREM1	54210	hgsc.bcm.edu	37	6	41250314	41250314	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:41250314C>A	ENST00000244709.4	-	2	288	c.225G>T	c.(223-225)aaG>aaT	p.K75N	TREM1_ENST00000334475.6_Missense_Mutation_p.K75N|TREM1_ENST00000589614.1_Missense_Mutation_p.K75N|TREM1_ENST00000591620.1_Missense_Mutation_p.K75N	NM_018643.3	NP_061113.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	75	Ig-like V-type.				blood coagulation (GO:0007596)|chemokine metabolic process (GO:0050755)|cytokine secretion involved in immune response (GO:0002374)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.K75N(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GATGGGAATTCTTTGAAGGCC	0.498																																					p.K75N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G225T	6						.						142.0	127.0	132.0					6																	41250314		2203	4300	6503	41358292	SO:0001583	missense	54210	exon2			AF196329	CCDS4854.1, CCDS56427.1, CCDS59499.1	6p21.1	2013-01-11			ENSG00000124731	ENSG00000124731		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17760	protein-coding gene	gene with protein product		605085				11922939, 10799849	Standard	NM_018643		Approved	TREM-1, CD354	uc003oqf.2	Q9NP99	OTTHUMG00000014674	ENST00000244709.4:c.225G>T	6.37:g.41250314C>A	ENSP00000244709:p.Lys75Asn	Somatic		Capture	SOLID	Phase_I	41358292	NM_018643	B4DWG2|K7EJW1|Q53FL8|Q5T2C9|Q86YU1	Missense_Mutation	SNP	ENST00000244709.4	37	CCDS4854.1	.	.	.	.	.	.	.	.	.	.	C	4.008	-0.001254	0.07819	.	.	ENSG00000124731	ENST00000244709;ENST00000334475	T;T	0.22945	1.93;1.93	4.23	-1.38	0.09027	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.969729	0.08428	N	0.947337	T	0.03348	0.0097	N	0.22421	0.69	0.09310	N	1	B;B	0.16166	0.016;0.009	B;B	0.15052	0.005;0.012	T	0.43065	-0.9414	10	0.17369	T	0.5	-1.4683	0.4546	0.00507	0.1849:0.2409:0.1834:0.3908	.	75;75	Q9NP99-2;Q9NP99	.;TREM1_HUMAN	N	75	ENSP00000244709:K75N;ENSP00000334284:K75N	ENSP00000244709:K75N	K	-	3	2	TREM1	41358292	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.504000	0.06375	-0.293000	0.08986	-0.302000	0.09304	AAG		0.498	TREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040505.2	NM_018643	
PPP2R5D	5528	hgsc.bcm.edu	37	6	42976111	42976111	+	Silent	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:42976111C>A	ENST00000485511.1	+	9	1103	c.924C>A	c.(922-924)atC>atA	p.I308I	PPP2R5D_ENST00000472118.1_Silent_p.I300I|PPP2R5D_ENST00000461010.1_Silent_p.I202I|PPP2R5D_ENST00000394110.3_Silent_p.I276I	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	308					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.I308I(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTAGCATCATCAATGGCTTTG	0.502																																					p.I308I	Melanoma(63;587 1613 29742 31770)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C924A	6						.						125.0	105.0	112.0					6																	42976111		2203	4300	6503	43084089	SO:0001819	synonymous_variant	5528	exon9			L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.924C>A	6.37:g.42976111C>A		Somatic		Capture	SOLID	Phase_I	43084089	NM_006245	A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Silent	SNP	ENST00000485511.1	37	CCDS4878.1	.	.	.	.	.	.	.	.	.	.	C	7.833	0.720192	0.15372	.	.	ENSG00000112640	ENST00000470467	.	.	.	6.17	5.14	0.70334	.	.	.	.	.	T	0.65974	0.2743	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62263	-0.6891	4	.	.	.	-24.7932	16.4691	0.84095	0.0:0.9281:0.0:0.0719	.	.	.	.	K	228	.	.	Q	+	1	0	PPP2R5D	43084089	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.492000	0.35594	2.941000	0.99782	0.655000	0.94253	CAA		0.502	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245	
RRP36	88745	hgsc.bcm.edu	37	6	42996965	42996965	+	Silent	SNP	A	A	G	rs529652316		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:42996965A>G	ENST00000244496.5	+	7	789	c.779A>G	c.(778-780)tAa>tGa	p.*260*		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	0					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.*260*(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						AGCAAAGAGTAATAAGGAACT	0.507																																					p.X260X												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A779G	6						.						76.0	72.0	73.0					6																	42996965		2203	4300	6503	43104943	SO:0001819	synonymous_variant	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.779A>G	6.37:g.42996965A>G		Somatic		Capture	SOLID	Phase_I	43104943	NM_033112	Q9BRF6|Q9P0C8	Silent	SNP	ENST00000244496.5	37	CCDS34453.1																																																																																				0.507	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112	
ZNF318	24149	hgsc.bcm.edu	37	6	43307303	43307303	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:43307303G>T	ENST00000361428.2	-	10	4510	c.4433C>A	c.(4432-4434)tCa>tAa	p.S1478*	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1478	Pro-rich.				meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S1478*(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AACTGGGTTTGATTTTACTGG	0.557																																					p.S1478X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4433A	6						.						64.0	59.0	60.0					6																	43307303		2203	4300	6503	43415281	SO:0001587	stop_gained	24149	exon10			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.4433C>A	6.37:g.43307303G>T	ENSP00000354964:p.Ser1478*	Somatic		Capture	SOLID	Phase_I	43415281	NM_014345	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Nonsense_Mutation	SNP	ENST00000361428.2	37	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	40	8.210344	0.98706	.	.	ENSG00000171467	ENST00000361428	.	.	.	4.96	4.1	0.47936	.	0.106956	0.38111	N	0.001819	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.732	7.4529	0.27248	0.1891:0.0:0.8109:0.0	.	.	.	.	X	1478	.	ENSP00000354964:S1478X	S	-	2	0	ZNF318	43415281	1.000000	0.71417	0.895000	0.35142	0.793000	0.44817	2.798000	0.47884	1.330000	0.45394	0.655000	0.94253	TCA		0.557	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345	
AARS2	57505	hgsc.bcm.edu	37	6	44274730	44274730	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:44274730A>C	ENST00000244571.4	-	7	1081	c.1079T>G	c.(1078-1080)tTc>tGc	p.F360C	RP11-444E17.6_ENST00000505802.1_Missense_Mutation_p.K122Q|TMEM151B_ENST00000438774.2_Missense_Mutation_p.R209S	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial									p.F360C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(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)			CTCCATGGAGAAACGCACAGC	0.547																																					p.F360C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1079G	6						.						93.0	85.0	88.0					6																	44274730		2203	4300	6503	44382708	SO:0001583	missense	57505	exon7			AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.1079T>G	6.37:g.44274730A>C	ENSP00000244571:p.Phe360Cys	Somatic		Capture	SOLID	Phase_I	44382708	NM_020745		Missense_Mutation	SNP	ENST00000244571.4	37	CCDS34464.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.44|13.44	2.239107|2.239107	0.39598|0.39598	.|.	.|.	ENSG00000124608|ENSG00000178233	ENST00000244571|ENST00000438774;ENST00000430110	T|.	0.72167|.	-0.63|.	4.54|4.54	3.35|3.35	0.38373|0.38373	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);|.	0.101063|.	0.64402|.	D|.	0.000002|.	T|T	0.56217|0.56217	0.1970|0.1970	M|M	0.89601|0.89601	3.045|3.045	0.48901|0.48901	D|D	0.999723|0.999723	D|B	0.76494|0.13145	0.999|0.007	D|B	0.66847|0.12837	0.947|0.008	T|T	0.57929|0.57929	-0.7726|-0.7726	10|7	0.72032|.	D|.	0.01|.	-12.6563|-12.6563	10.1533|10.1533	0.42807|0.42807	0.8456:0.0:0.0:0.1544|0.8456:0.0:0.0:0.1544	.|.	360|209	Q5JTZ9|Q8IW70-2	SYAM_HUMAN|.	C|S	360|209	ENSP00000244571:F360C|.	ENSP00000244571:F360C|.	F|R	-|+	2|3	0|2	AARS2|TMEM151B	44382708|44382708	1.000000|1.000000	0.71417|0.71417	0.936000|0.936000	0.37596|0.37596	0.121000|0.121000	0.20230|0.20230	5.681000|5.681000	0.68175|0.68175	0.733000|0.733000	0.32492|0.32492	0.459000|0.459000	0.35465|0.35465	TTC|AGA		0.547	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745	
CDC5L	988	hgsc.bcm.edu	37	6	44361250	44361250	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:44361250G>T	ENST00000371477.3	+	4	678	c.379G>T	c.(379-381)Gaa>Taa	p.E127*		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	127					cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)	p.E127*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TAAACCTGGAGAAATAGATCC	0.403																																					p.E127X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G379T	6						.						99.0	93.0	95.0					6																	44361250		2203	4300	6503	44469228	SO:0001587	stop_gained	988	exon4			D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.379G>T	6.37:g.44361250G>T	ENSP00000360532:p.Glu127*	Somatic		Capture	SOLID	Phase_I	44469228	NM_001253	Q76N46|Q99974	Nonsense_Mutation	SNP	ENST00000371477.3	37	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	G	41	8.844450	0.98974	.	.	ENSG00000096401	ENST00000371477	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.6224	20.0576	0.97660	0.0:0.0:1.0:0.0	.	.	.	.	X	127	.	ENSP00000360532:E127X	E	+	1	0	CDC5L	44469228	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.694000	0.98686	2.750000	0.94351	0.609000	0.83330	GAA		0.403	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1		
TDRD6	221400	hgsc.bcm.edu	37	6	46660487	46660487	+	Missense_Mutation	SNP	C	C	T	rs202246002		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:46660487C>T	ENST00000316081.6	+	1	4622	c.4622C>T	c.(4621-4623)aCg>aTg	p.T1541M	TDRD6_ENST00000544460.1_Missense_Mutation_p.T1541M	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1541					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.T1541M(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)			TTTGCTGATACGGAGAAACTT	0.388																																					p.T1541M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4622T	6						.						129.0	126.0	127.0					6																	46660487		2203	4300	6503	46768446	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.4622C>T	6.37:g.46660487C>T	ENSP00000346065:p.Thr1541Met	Somatic		Capture	SOLID	Phase_I	46768446	NM_001010870	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	9.271	1.045651	0.19748	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.10099	2.91;2.91	6.07	4.27	0.50696	Maternal tudor protein (1);	0.389801	0.28510	N	0.015099	T	0.06371	0.0164	L	0.60067	1.865	0.09310	N	1	P;P	0.50528	0.921;0.936	B;P	0.47044	0.399;0.535	T	0.18085	-1.0348	10	0.48119	T	0.1	-3.752	7.3778	0.26839	0.2431:0.6282:0.0:0.1287	.	1541;1541	F5H5M3;O60522	.;TDRD6_HUMAN	M	1541	ENSP00000443299:T1541M;ENSP00000346065:T1541M	ENSP00000346065:T1541M	T	+	2	0	TDRD6	46768446	0.001000	0.12720	0.032000	0.17829	0.676000	0.39594	1.394000	0.34509	0.874000	0.35823	-0.136000	0.14681	ACG		0.388	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443	
PLA2G7	7941	hgsc.bcm.edu	37	6	46675780	46675780	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:46675780T>G	ENST00000274793.7	-	10	1184	c.988A>C	c.(988-990)Aaa>Caa	p.K330Q	PLA2G7_ENST00000537365.1_Missense_Mutation_p.K330Q	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	330					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)	p.K330Q(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TTTTTCATTTTTATGATATTA	0.328																																					p.K330Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A988C	6						.						85.0	84.0	84.0					6																	46675780		2202	4300	6502	46783739	SO:0001583	missense	7941	exon10			U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.988A>C	6.37:g.46675780T>G	ENSP00000274793:p.Lys330Gln	Somatic		Capture	SOLID	Phase_I	46783739	NM_005084	A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	T	9.842	1.191260	0.21954	.	.	ENSG00000146070	ENST00000274793;ENST00000537365	T;T	0.52983	0.64;0.64	5.72	4.55	0.56014	.	0.303301	0.35320	N	0.003281	T	0.22742	0.0549	L	0.58428	1.81	0.80722	D	1	P	0.49635	0.926	B	0.43155	0.41	T	0.15378	-1.0439	10	0.13853	T	0.58	.	5.6403	0.17561	0.0:0.1484:0.1447:0.707	.	330	Q13093	PAFA_HUMAN	Q	330	ENSP00000274793:K330Q;ENSP00000445666:K330Q	ENSP00000274793:K330Q	K	-	1	0	PLA2G7	46783739	0.988000	0.35896	0.754000	0.31244	0.235000	0.25334	2.057000	0.41365	1.000000	0.39049	0.482000	0.46254	AAA		0.328	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1		
PLA2G7	7941	hgsc.bcm.edu	37	6	46690601	46690601	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:46690601A>C	ENST00000274793.7	-	2	224	c.28T>G	c.(28-30)Ttc>Gtc	p.F10V	PLA2G7_ENST00000537365.1_Missense_Mutation_p.F10V|PLA2G7_ENST00000541026.1_Intron|PLA2G7_ENST00000538237.1_Intron	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	10					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)	p.F10V(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			CAGAGGCAGAAAAGCACATGC	0.438																																					p.F10V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T28G	6						.						109.0	93.0	98.0					6																	46690601		2203	4300	6503	46798560	SO:0001583	missense	7941	exon2			U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.28T>G	6.37:g.46690601A>C	ENSP00000274793:p.Phe10Val	Somatic		Capture	SOLID	Phase_I	46798560	NM_005084	A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	A	17.92	3.506440	0.64410	.	.	ENSG00000146070	ENST00000274793;ENST00000537365	T;T	0.49720	0.77;0.77	6.07	3.67	0.42095	.	0.574970	0.18408	N	0.142155	T	0.16041	0.0386	L	0.36672	1.1	0.80722	D	1	B;B	0.29909	0.11;0.261	B;B	0.21546	0.02;0.035	T	0.05699	-1.0869	10	0.33141	T	0.24	.	5.5553	0.17113	0.7393:0.1753:0.0855:0.0	.	10;10	A8K2W6;Q13093	.;PAFA_HUMAN	V	10	ENSP00000274793:F10V;ENSP00000445666:F10V	ENSP00000274793:F10V	F	-	1	0	PLA2G7	46798560	0.835000	0.29415	0.992000	0.48379	0.572000	0.35998	0.485000	0.22324	1.081000	0.41110	0.533000	0.62120	TTC		0.438	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1		
GPR116	221395	hgsc.bcm.edu	37	6	46874483	46874483	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:46874483C>A	ENST00000283296.7	-	2	305	c.17G>T	c.(16-18)aGa>aTa	p.R6I	GPR116_ENST00000265417.7_Missense_Mutation_p.R6I|GPR116_ENST00000456426.2_Missense_Mutation_p.R6I|RP3-365O12.2_ENST00000451135.1_RNA|GPR116_ENST00000362015.4_Missense_Mutation_p.R6I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	6					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R6I(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CAAAGTGGTTCTCCTTGGGGA	0.358																																					p.R6I	NSCLC(59;410 1274 8751 36715 50546)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G17T	6						.						138.0	140.0	139.0					6																	46874483		2203	4300	6503	46982442	SO:0001583	missense	221395	exon2			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.17G>T	6.37:g.46874483C>A	ENSP00000283296:p.Arg6Ile	Somatic		Capture	SOLID	Phase_I	46982442	NM_001098518	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	C	8.179	0.793441	0.16327	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.31769	1.48;1.86;1.52;1.48	5.73	2.6	0.31112	.	0.453074	0.19217	N	0.119775	T	0.06781	0.0173	N	0.19112	0.55	0.09310	N	0.999995	P;P;P	0.45902	0.868;0.815;0.531	B;B;B	0.39805	0.31;0.246;0.125	T	0.11494	-1.0585	10	0.66056	D	0.02	-0.5277	4.8602	0.13579	0.0:0.5998:0.1752:0.2251	.	6;6;6	A8K0D8;Q8IZF2-3;Q8IZF2	.;.;GP116_HUMAN	I	6	ENSP00000283296:R6I;ENSP00000354563:R6I;ENSP00000412866:R6I;ENSP00000265417:R6I	ENSP00000265417:R6I	R	-	2	0	GPR116	46982442	0.011000	0.17503	0.030000	0.17652	0.079000	0.17450	-0.122000	0.10627	0.280000	0.22209	0.557000	0.71058	AGA		0.358	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234	
FAM83B	222584	hgsc.bcm.edu	37	6	54735050	54735050	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:54735050G>T	ENST00000306858.7	+	2	122	c.6G>T	c.(4-6)gaG>gaT	p.E2D		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	2								p.E2D(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CAAGCATGGAGACCTCATCAA	0.388																																					p.E2D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6T	6						.						127.0	108.0	114.0					6																	54735050		2203	4300	6503	54843009	SO:0001583	missense	222584	exon2			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.6G>T	6.37:g.54735050G>T	ENSP00000304078:p.Glu2Asp	Somatic		Capture	SOLID	Phase_I	54843009	NM_001010872	Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337085	0.60963	.	.	ENSG00000168143	ENST00000306858	T	0.12672	2.66	5.25	3.37	0.38596	.	0.238596	0.35615	N	0.003084	T	0.04318	0.0119	L	0.54323	1.7	0.34426	D	0.697964	B	0.34200	0.441	B	0.24848	0.056	T	0.23583	-1.0184	10	0.38643	T	0.18	-17.7633	6.4452	0.21871	0.3991:0.0:0.6008:0.0	.	2	Q5T0W9	FA83B_HUMAN	D	2	ENSP00000304078:E2D	ENSP00000304078:E2D	E	+	3	2	FAM83B	54843009	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.577000	0.36515	1.279000	0.44446	0.591000	0.81541	GAG		0.388	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139	
BAI3	577	hgsc.bcm.edu	37	6	69348580	69348580	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:69348580C>T	ENST00000370598.1	+	3	834	c.13C>T	c.(13-15)Cgt>Tgt	p.R5C		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	5					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.R5C(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)				GAAGGCTGTTCGTAACCTGCT	0.383																																					p.R5C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C13T	6						.						153.0	130.0	138.0					6																	69348580		2203	4300	6503	69405301	SO:0001583	missense	577	exon3			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.13C>T	6.37:g.69348580C>T	ENSP00000359630:p.Arg5Cys	Somatic		Capture	SOLID	Phase_I	69405301	NM_001704	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.135346	0.56828	.	.	ENSG00000135298	ENST00000370598	T	0.21932	1.98	5.39	4.5	0.54988	.	0.147546	0.46145	D	0.000320	T	0.11879	0.0289	L	0.36672	1.1	0.80722	D	1	D	0.69078	0.997	B	0.44315	0.446	T	0.01935	-1.1244	10	0.46703	T	0.11	.	16.2709	0.82618	0.0:0.867:0.133:0.0	.	5	O60242	BAI3_HUMAN	C	5	ENSP00000359630:R5C	ENSP00000359630:R5C	R	+	1	0	BAI3	69405301	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.442000	0.80503	1.363000	0.46019	0.650000	0.86243	CGT		0.383	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		
BAI3	577	hgsc.bcm.edu	37	6	70034837	70034837	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:70034837C>T	ENST00000370598.1	+	21	3709	c.2888C>T	c.(2887-2889)gCg>gTg	p.A963V	BAI3_ENST00000238918.8_Missense_Mutation_p.A169V	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	963					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.A963V(1)|p.A963G(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)				TTGACTGAGGCGTGGCAATCA	0.403																																					p.A963V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2888T	6						.						182.0	171.0	175.0					6																	70034837		2203	4300	6503	70091558	SO:0001583	missense	577	exon21			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.2888C>T	6.37:g.70034837C>T	ENSP00000359630:p.Ala963Val	Somatic		Capture	SOLID	Phase_I	70091558	NM_001704	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	36	5.725333	0.96847	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.55588	0.51;0.51	6.07	6.07	0.98685	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.77903	0.4200	M	0.91249	3.19	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.995;0.989;0.999	T	0.81172	-0.1054	10	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	169;963;963	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	V	963;169	ENSP00000359630:A963V;ENSP00000238918:A169V	ENSP00000238918:A169V	A	+	2	0	BAI3	70091558	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.792000	0.85828	2.885000	0.99019	0.655000	0.94253	GCG		0.403	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		
BAI3	577	hgsc.bcm.edu	37	6	70071364	70071364	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:70071364G>T	ENST00000370598.1	+	29	5020	c.4199G>T	c.(4198-4200)aGa>aTa	p.R1400I	BAI3_ENST00000238918.8_Missense_Mutation_p.R606I|BAI3_ENST00000546190.1_Missense_Mutation_p.R364I	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1400					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.R1400I(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)				GGACTATCAAGAAGTGAAACT	0.388																																					p.R1400I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4199T	6						.						96.0	102.0	100.0					6																	70071364		2202	4299	6501	70128085	SO:0001583	missense	577	exon29			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.4199G>T	6.37:g.70071364G>T	ENSP00000359630:p.Arg1400Ile	Somatic		Capture	SOLID	Phase_I	70128085	NM_001704	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655696	0.88056	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.06371	3.31;3.31;3.31	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.19127	0.0459	M	0.68593	2.085	0.80722	D	1	D;D	0.76494	0.99;0.999	D;D	0.80764	0.962;0.994	T	0.00325	-1.1816	10	0.87932	D	0	.	20.1338	0.98010	0.0:0.0:1.0:0.0	.	606;1400	B7Z356;O60242	.;BAI3_HUMAN	I	1400;606;364	ENSP00000359630:R1400I;ENSP00000238918:R606I;ENSP00000441821:R364I	ENSP00000238918:R606I	R	+	2	0	BAI3	70128085	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.770000	0.95276	0.655000	0.94253	AGA		0.388	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		
COL19A1	1310	hgsc.bcm.edu	37	6	70608850	70608850	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:70608850C>T	ENST00000322773.4	+	3	204	c.102C>T	c.(100-102)tgC>tgT	p.C34C		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	34					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.C34C(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						AAGAGTCATGCCCTATCCTGA	0.299																																					p.C34C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C102T	6						.						82.0	84.0	83.0					6																	70608850		2203	4299	6502	70665571	SO:0001819	synonymous_variant	1310	exon3				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.102C>T	6.37:g.70608850C>T		Somatic		Capture	SOLID	Phase_I	70665571	NM_001858	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	ENST00000322773.4	37	CCDS4970.1																																																																																				0.299	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1		
OGFRL1	79627	hgsc.bcm.edu	37	6	72003252	72003252	+	Missense_Mutation	SNP	G	G	A	rs370124520		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:72003252G>A	ENST00000370435.4	+	3	472	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|OGFRL1_ENST00000467503.1_3'UTR|RP11-154D6.1_ENST00000586232.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000432050.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	113						membrane (GO:0016020)	receptor activity (GO:0004872)	p.R113Q(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						AAAGATATCCGATATCAAAAT	0.323																																					p.R113Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G338A	6						.	G	GLN/ARG	1,4403	2.1+/-5.4	0,1,2201	56.0	58.0	57.0		338	6.0	1.0	6		57	0,8594		0,0,4297	no	missense	OGFRL1	NM_024576.3	43	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	113/452	72003252	1,12997	2202	4297	6499	72059973	SO:0001583	missense	79627	exon3				CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900			21378	protein-coding gene	gene with protein product							Standard	NM_024576		Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.338G>A	6.37:g.72003252G>A	ENSP00000359464:p.Arg113Gln	Somatic		Capture	SOLID	Phase_I	72059973	NM_024576	Q2TAC1|Q8NEQ4|Q9H7B5	Missense_Mutation	SNP	ENST00000370435.4	37	CCDS34482.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334453	0.81801	2.27E-4	0.0	ENSG00000119900	ENST00000370435	T	0.46063	0.88	5.96	5.96	0.96718	Opioid growth factor receptor (OGFr) conserved domain (1);	0.069179	0.64402	D	0.000016	T	0.40272	0.1110	L	0.47716	1.5	0.51767	D	0.999932	D	0.64830	0.994	P	0.53313	0.723	T	0.02632	-1.1131	10	0.19147	T	0.46	-3.6329	20.4008	0.98991	0.0:0.0:1.0:0.0	.	113	Q5TC84	OGRL1_HUMAN	Q	113	ENSP00000359464:R113Q	ENSP00000359464:R113Q	R	+	2	0	OGFRL1	72059973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.216000	0.77974	2.826000	0.97356	0.655000	0.94253	CGA		0.323	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041153.2	NM_024576	
SLC17A5	26503	hgsc.bcm.edu	37	6	74304869	74304869	+	Missense_Mutation	SNP	G	G	T	rs374866581		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:74304869G>T	ENST00000355773.5	-	11	1687	c.1419C>A	c.(1417-1419)ttC>ttA	p.F473L		NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	473					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)	p.F473L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATAGTGTAAAGAAAATGGCAC	0.378																																					p.F473L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1419A	6						.						139.0	134.0	135.0					6																	74304869		2203	4300	6503	74361590	SO:0001583	missense	26503	exon11			AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"""Solute carriers"""	10933	protein-coding gene	gene with protein product		604322	"""sialic acid storage disease"", ""solute carrier family 17 (anion/sugar transporter), member 5"""	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.1419C>A	6.37:g.74304869G>T	ENSP00000348019:p.Phe473Leu	Somatic		Capture	SOLID	Phase_I	74361590	NM_012434	Q5SZ76|Q8NBR5|Q9UGH0	Missense_Mutation	SNP	ENST00000355773.5	37	CCDS4981.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595535	0.46318	.	.	ENSG00000119899	ENST00000355773	T	0.54675	0.56	5.3	5.3	0.74995	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.108678	0.64402	D	0.000005	T	0.38268	0.1034	L	0.55481	1.735	0.80722	D	1	B	0.14012	0.009	B	0.09377	0.004	T	0.24048	-1.0171	10	0.40728	T	0.16	.	18.5569	0.91088	0.0:0.0:1.0:0.0	.	473	Q9NRA2	S17A5_HUMAN	L	473	ENSP00000348019:F473L	ENSP00000348019:F473L	F	-	3	2	SLC17A5	74361590	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	4.117000	0.57877	2.482000	0.83794	0.542000	0.68232	TTC		0.378	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1		
LCA5	167691	hgsc.bcm.edu	37	6	80201340	80201340	+	Missense_Mutation	SNP	C	C	T	rs534689871		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:80201340C>T	ENST00000392959.1	-	7	1674	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	LCA5_ENST00000467898.3_Missense_Mutation_p.E355K|LCA5_ENST00000369846.4_Missense_Mutation_p.E355K	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	355					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)	p.E355K(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		CATTTGTTTTCGTAACACATA	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		15528	0.0		0.0	False		,,,				2504	0.001				p.E355K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1063A	6						.						203.0	189.0	194.0					6																	80201340		2203	4300	6503	80258059	SO:0001583	missense	167691	exon6				CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.1063G>A	6.37:g.80201340C>T	ENSP00000376686:p.Glu355Lys	Somatic		Capture	SOLID	Phase_I	80258059	NM_001122769	E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.776015	0.49786	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.33654	1.4;1.4	5.11	5.11	0.69529	.	0.612590	0.16230	N	0.223645	T	0.30510	0.0767	L	0.59436	1.845	0.35257	D	0.77923	D	0.58268	0.982	P	0.49637	0.617	T	0.04811	-1.0925	10	0.31617	T	0.26	-17.8317	12.0178	0.53324	0.0:0.8262:0.1738:0.0	.	355	Q86VQ0	LCA5_HUMAN	K	355	ENSP00000358861:E355K;ENSP00000376686:E355K	ENSP00000358861:E355K	E	-	1	0	LCA5	80258059	0.997000	0.39634	1.000000	0.80357	0.119000	0.20118	1.495000	0.35627	2.814000	0.96858	0.591000	0.81541	GAA		0.373	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714	
PRSS35	167681	hgsc.bcm.edu	37	6	84234054	84234054	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:84234054G>A	ENST00000369700.3	+	2	1071	c.894G>A	c.(892-894)acG>acA	p.T298T	PRSS35_ENST00000536636.1_Silent_p.T298T	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	298	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)	p.T298T(2)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		TCAGCCCAACGATCAAGAAAA	0.478																																					p.T298T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G894A	6						.						100.0	97.0	98.0					6																	84234054		2203	4300	6503	84290773	SO:0001819	synonymous_variant	167681	exon2			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.894G>A	6.37:g.84234054G>A		Somatic		Capture	SOLID	Phase_I	84290773	NM_153362	A8K7B3|Q9BQP6	Silent	SNP	ENST00000369700.3	37	CCDS4999.1																																																																																				0.478	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362	
CYB5R4	51167	hgsc.bcm.edu	37	6	84634288	84634288	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:84634288C>A	ENST00000369681.5	+	10	931	c.791C>A	c.(790-792)tCa>tAa	p.S264*		NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	264					cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)	p.S264*(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		AATCATAATTCACTTATTCCA	0.368																																					p.S264X	Esophageal Squamous(86;1289 1332 25971 40349 52675)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C791A	6						.						148.0	148.0	148.0					6																	84634288		2203	4300	6503	84691007	SO:0001587	stop_gained	51167	exon10			AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"""NADPH cytochrome B5 oxidoreductase"""	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.791C>A	6.37:g.84634288C>A	ENSP00000358695:p.Ser264*	Somatic		Capture	SOLID	Phase_I	84691007	NM_016230	B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Nonsense_Mutation	SNP	ENST00000369681.5	37	CCDS5000.2	.	.	.	.	.	.	.	.	.	.	C	37	6.354017	0.97498	.	.	ENSG00000065615	ENST00000369681	.	.	.	6.05	4.29	0.51040	.	0.225948	0.46145	D	0.000306	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6789	0.51446	0.0:0.8568:0.0:0.1432	.	.	.	.	X	264	.	ENSP00000358695:S264X	S	+	2	0	CYB5R4	84691007	0.947000	0.32204	0.951000	0.38953	0.940000	0.58332	1.516000	0.35856	0.900000	0.36469	0.650000	0.86243	TCA		0.368	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230	
MDN1	23195	hgsc.bcm.edu	37	6	90471412	90471412	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:90471412T>G	ENST00000369393.3	-	17	2527	c.2412A>C	c.(2410-2412)caA>caC	p.Q804H	MDN1_ENST00000428876.1_Missense_Mutation_p.Q804H			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	804					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.Q804H(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)		TCATCTGTTGTTGGGCATGGT	0.328																																					p.Q804H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2412C	6						.						157.0	149.0	152.0					6																	90471412		2203	4300	6503	90528133	SO:0001583	missense	23195	exon17			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.2412A>C	6.37:g.90471412T>G	ENSP00000358400:p.Gln804His	Somatic		Capture	SOLID	Phase_I	90528133	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.478359	0.26511	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.18502	3.99;3.99;2.21	5.41	-7.26	0.01466	ATPase, AAA+ type, core (1);	0.250130	0.41097	N	0.000946	T	0.04182	0.0116	L	0.58101	1.795	0.37336	D	0.910188	B;B	0.16166	0.007;0.016	B;B	0.24269	0.021;0.052	T	0.21793	-1.0235	10	0.40728	T	0.16	.	1.3439	0.02160	0.2348:0.3404:0.17:0.2547	.	731;804	Q5T795;Q9NU22	.;MDN1_HUMAN	H	804;804;731	ENSP00000358400:Q804H;ENSP00000413970:Q804H;ENSP00000409664:Q731H	ENSP00000358400:Q804H	Q	-	3	2	MDN1	90528133	0.965000	0.33210	0.959000	0.39883	0.903000	0.53119	0.015000	0.13355	-0.769000	0.04620	-0.415000	0.06103	CAA		0.328	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
MDN1	23195	hgsc.bcm.edu	37	6	90504395	90504395	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:90504395G>A	ENST00000369393.3	-	3	570	c.455C>T	c.(454-456)gCc>gTc	p.A152V	MDN1_ENST00000428876.1_Missense_Mutation_p.A152V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	152					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.A152V(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)		AAACTTGAAGGCTGCTTCCAT	0.527																																					p.A152V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C455T	6						.						128.0	105.0	113.0					6																	90504395		2203	4300	6503	90561116	SO:0001583	missense	23195	exon3			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.455C>T	6.37:g.90504395G>A	ENSP00000358400:p.Ala152Val	Somatic		Capture	SOLID	Phase_I	90561116	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258515	0.59321	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.27557	1.66;1.66;1.66	5.23	5.23	0.72850	.	0.131946	0.51477	D	0.000090	T	0.23054	0.0557	L	0.50333	1.59	0.42174	D	0.991651	P;B	0.52316	0.952;0.068	P;B	0.46585	0.521;0.029	T	0.02282	-1.1183	10	0.14656	T	0.56	.	19.172	0.93581	0.0:0.0:1.0:0.0	.	152;152	Q6ZVV6;Q9NU22	.;MDN1_HUMAN	V	152	ENSP00000358400:A152V;ENSP00000413970:A152V;ENSP00000409664:A152V	ENSP00000358400:A152V	A	-	2	0	MDN1	90561116	1.000000	0.71417	0.997000	0.53966	0.929000	0.56500	9.813000	0.99286	2.614000	0.88457	0.557000	0.71058	GCC		0.527	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
GJA10	84694	hgsc.bcm.edu	37	6	90604973	90604973	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:90604973G>T	ENST00000369352.1	+	1	786	c.786G>T	c.(784-786)aaG>aaT	p.K262N		NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	258					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.K262N(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TCCATTTGAAGAAATATTCTG	0.393																																					p.K262N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G786T	6						.						86.0	79.0	81.0					6																	90604973		2203	4300	6503	90661694	SO:0001583	missense	84694	exon1			AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.786G>T	6.37:g.90604973G>T	ENSP00000358358:p.Lys262Asn	Somatic		Capture	SOLID	Phase_I	90661694	NM_032602	B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	G	7.464	0.645329	0.14451	.	.	ENSG00000135355	ENST00000369352	D	0.97731	-4.51	4.97	-2.42	0.06542	.	0.466873	0.19093	N	0.122918	D	0.87989	0.6317	L	0.54323	1.7	0.32093	N	0.591622	B	0.25563	0.129	B	0.18263	0.021	T	0.73895	-0.3838	10	0.23891	T	0.37	.	0.3567	0.00358	0.2802:0.1383:0.3002:0.2812	.	262	Q969M2	CXA10_HUMAN	N	262	ENSP00000358358:K262N	ENSP00000358358:K262N	K	+	3	2	GJA10	90661694	1.000000	0.71417	0.014000	0.15608	0.421000	0.31385	1.997000	0.40786	-0.295000	0.08960	-0.261000	0.10672	AAG		0.393	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602	
EPHA7	2045	hgsc.bcm.edu	37	6	93967900	93967900	+	Missense_Mutation	SNP	C	C	A	rs373761211		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:93967900C>A	ENST00000369303.4	-	11	2211	c.2027G>T	c.(2026-2028)aGg>aTg	p.R676M		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	676	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.R676M(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AAAGTCTCTCCTTTGTTTTTC	0.428																																					p.R676M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2027T	6						.						142.0	141.0	142.0					6																	93967900		2203	4300	6503	94024621	SO:0001583	missense	2045	exon11			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2027G>T	6.37:g.93967900C>A	ENSP00000358309:p.Arg676Met	Somatic		Capture	SOLID	Phase_I	94024621	NM_004440	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	31	5.094278	0.94149	.	.	ENSG00000135333	ENST00000369303	D	0.83250	-1.7	6.08	6.08	0.98989	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87293	0.6141	L	0.42245	1.32	0.80722	D	1	D;D;D	0.89917	0.992;1.0;1.0	D;D;D	0.71184	0.968;0.952;0.972	D	0.87233	0.2261	10	0.87932	D	0	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	672;671;676	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	M	676	ENSP00000358309:R676M	ENSP00000358309:R676M	R	-	2	0	EPHA7	94024621	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	AGG		0.428	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1		
ERMARD	55780	hgsc.bcm.edu	37	6	170156882	170156882	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:170156882C>A	ENST00000366773.3	+	5	518	c.485C>A	c.(484-486)gCt>gAt	p.A162D	ERMARD_ENST00000588451.1_Missense_Mutation_p.A36D|ERMARD_ENST00000392095.4_Missense_Mutation_p.A36D|ERMARD_ENST00000418781.3_Missense_Mutation_p.A162D|ERMARD_ENST00000366772.2_Missense_Mutation_p.A162D	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	162					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.A162D(1)									GAGGAGCTTGCTCAAGTCTTC	0.378																																					p.A162D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C485A	6						.						175.0	173.0	174.0					6																	170156882		2203	4300	6503	169898807	SO:0001583	missense	55780	exon5			AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.485C>A	6.37:g.170156882C>A	ENSP00000355735:p.Ala162Asp	Somatic		Capture	SOLID	Phase_I	169898807	NM_018341	B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.913326	0.52439	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095	T;T	0.48522	0.81;0.81	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000010	T	0.64951	0.2645	M	0.77616	2.38	0.40199	D	0.977497	D;D;D	0.63880	0.992;0.992;0.993	D;D;D	0.65874	0.939;0.916;0.939	T	0.68462	-0.5402	10	0.87932	D	0	.	18.7291	0.91728	0.0:1.0:0.0:0.0	.	162;162;162	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	D	162;162;162;36	ENSP00000355735:A162D;ENSP00000375945:A36D	ENSP00000355734:A162D	A	+	2	0	C6orf70	169898807	0.992000	0.36948	0.351000	0.25721	0.004000	0.04260	4.766000	0.62279	2.714000	0.92807	0.563000	0.77884	GCT		0.378	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341	
MMP20	9313	hgsc.bcm.edu	37	11	102464279	102464279	+	Missense_Mutation	SNP	G	G	A	rs184655088		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:102464279G>A	ENST00000260228.2	-	8	1150	c.1138C>T	c.(1138-1140)Cgg>Tgg	p.R380W	MMP20_ENST00000544938.1_5'Flank	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	403					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R380W(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	TAAATAGTCCGAGGAGGACCT	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		18005	0.001		0.0	False		,,,				2504	0.0				p.R380W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1138T	11						.						98.0	91.0	93.0					11																	102464279		2203	4299	6502	101969489	SO:0001583	missense	9313	exon8			Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.1138C>T	11.37:g.102464279G>A	ENSP00000260228:p.Arg380Trp	Somatic		Capture	SOLID	Phase_I	101969489	NM_004771	D3DUA8|Q9H3Q0	Missense_Mutation	SNP	ENST00000260228.2	37	CCDS8318.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.71	2.914352	0.52546	.	.	ENSG00000137674	ENST00000260228	T	0.03181	4.02	5.06	3.03	0.35002	Hemopexin/matrixin (2);	0.434976	0.24065	N	0.041866	T	0.21267	0.0512	M	0.90145	3.09	0.40485	D	0.980486	D	0.89917	1.0	D	0.85130	0.997	T	0.10497	-1.0627	10	0.87932	D	0	.	12.5313	0.56117	0.0:0.0:0.6144:0.3856	.	380	O60882	MMP20_HUMAN	W	380	ENSP00000260228:R380W	ENSP00000260228:R380W	R	-	1	2	MMP20	101969489	0.024000	0.19004	0.811000	0.32455	0.615000	0.37417	0.864000	0.27926	1.352000	0.45808	0.650000	0.86243	CGG		0.453	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1		
ATM	472	hgsc.bcm.edu	37	11	108216568	108216568	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:108216568C>A	ENST00000452508.2	+	59	8706	c.8517C>A	c.(8515-8517)ttC>ttA	p.F2839L	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.F2839L|C11orf65_ENST00000526725.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2839	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.F2839L(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)	TGGAAAAATTCTTGGATCCAG	0.373			"""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.F2839L		yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8517A	11						.						155.0	161.0	159.0					11																	108216568		2201	4298	6499	107721778	SO:0001583	missense	472	exon58	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.8517C>A	11.37:g.108216568C>A	ENSP00000388058:p.Phe2839Leu	Somatic		Capture	SOLID	Phase_I	107721778	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297622	0.81025	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.82433	-1.61;-1.61	5.64	4.53	0.55603	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.91345	0.7270	M	0.90425	3.115	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.91882	0.5516	10	0.72032	D	0.01	.	10.219	0.43186	0.0:0.795:0.0:0.205	.	2839	Q13315	ATM_HUMAN	L	2839	ENSP00000278616:F2839L;ENSP00000388058:F2839L	ENSP00000278616:F2839L	F	+	3	2	ATM	107721778	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.926000	0.28804	2.650000	0.89964	0.650000	0.86243	TTC		0.373	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
EXPH5	23086	hgsc.bcm.edu	37	11	108381870	108381870	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:108381870G>T	ENST00000265843.4	-	6	4474	c.4364C>A	c.(4363-4365)cCa>cAa	p.P1455Q	EXPH5_ENST00000443411.1_Missense_Mutation_p.P1267Q|EXPH5_ENST00000428840.1_Missense_Mutation_p.P1379Q|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000525344.1_Missense_Mutation_p.P1448Q	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1455					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.P1455Q(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCCAGTAAATGGAATGGCTCT	0.483																																					p.P1455Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4364A	11						.						78.0	71.0	73.0					11																	108381870		2201	4298	6499	107887080	SO:0001583	missense	23086	exon6				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4364C>A	11.37:g.108381870G>T	ENSP00000265843:p.Pro1455Gln	Somatic		Capture	SOLID	Phase_I	107887080	NM_015065	Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741884	0.30865	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312	T;T;T;T;T	0.02787	4.39;4.31;4.16;4.39;4.24	5.65	-0.774	0.10991	.	0.954108	0.08703	N	0.906185	T	0.01835	0.0058	N	0.22421	0.69	0.09310	N	1	P	0.38420	0.63	B	0.34652	0.187	T	0.47824	-0.9087	10	0.15499	T	0.54	0.1444	5.2459	0.15496	0.4601:0.1501:0.3898:0.0	.	1455	Q8NEV8	EXPH5_HUMAN	Q	1455;1379;1267;1448;1379	ENSP00000265843:P1455Q;ENSP00000391966:P1379Q;ENSP00000411390:P1267Q;ENSP00000432546:P1448Q;ENSP00000432683:P1379Q	ENSP00000265843:P1455Q	P	-	2	0	EXPH5	107887080	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.580000	0.05827	-0.024000	0.13941	-0.218000	0.12543	CCA		0.483	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065	
TEX12	56158	hgsc.bcm.edu	37	11	112041244	112041244	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:112041244G>T	ENST00000280358.4	+	3	298	c.166G>T	c.(166-168)Gat>Tat	p.D56Y	AP002884.3_ENST00000532612.1_5'Flank|RP11-356J5.4_ENST00000527589.1_RNA|SDHD_ENST00000532699.1_Missense_Mutation_p.K139N|TEX12_ENST00000530752.1_Missense_Mutation_p.D56Y|SDHD_ENST00000525468.1_3'UTR	NM_031275.4	NP_112565.1	Q9BXU0	TEX12_HUMAN	testis expressed 12	56					meiotic DNA repair synthesis (GO:0000711)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.D56Y(1)		endometrium(1)|large_intestine(2)|lung(1)	4		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.2e-06)|BRCA - Breast invasive adenocarcinoma(274;1.4e-06)|all cancers(92;1.97e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		CTTGGAGAAAGATTTAAATGG	0.308																																					p.D56Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G166T	11						.						41.0	45.0	44.0					11																	112041244		2201	4294	6495	111546454	SO:0001583	missense	56158	exon3			AF285600	CCDS31679.1	11q23.1	2013-09-20	2007-03-13						11734	protein-coding gene	gene with protein product		605791	"""testis expressed sequence 12"""			11279525	Standard	NM_031275		Approved		uc001pnc.3	Q9BXU0		ENST00000280358.4:c.166G>T	11.37:g.112041244G>T	ENSP00000280358:p.Asp56Tyr	Somatic		Capture	SOLID	Phase_I	111546454	NM_031275	A6NDL9|B0YIX3	Missense_Mutation	SNP	ENST00000280358.4	37	CCDS31679.1	.	.	.	.	.	.	.	.	.	.	G	6.334	0.429658	0.11987	.	.	ENSG00000150783	ENST00000530752;ENST00000280358	.	.	.	5.4	3.53	0.40419	.	0.255357	0.27946	N	0.017220	T	0.24736	0.0600	N	0.19112	0.55	0.30845	N	0.7353	B	0.19073	0.033	B	0.16289	0.015	T	0.12734	-1.0536	9	0.42905	T	0.14	-3.147	6.2773	0.20987	0.0841:0.0:0.5864:0.3294	.	56	Q9BXU0	TEX12_HUMAN	Y	56	.	ENSP00000280358:D56Y	D	+	1	0	TEX12	111546454	1.000000	0.71417	1.000000	0.80357	0.172000	0.22775	2.756000	0.47549	0.839000	0.34971	-0.169000	0.13324	GAT		0.308	TEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392417.1		
TEX12	56158	hgsc.bcm.edu	37	11	112041370	112041370	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:112041370T>G	ENST00000280358.4	+	4	332	c.200T>G	c.(199-201)aTg>aGg	p.M67R	AP002884.3_ENST00000532612.1_Intron|RP11-356J5.4_ENST00000527589.1_RNA|SDHD_ENST00000532699.1_3'UTR|TEX12_ENST00000530752.1_Missense_Mutation_p.M67R|SDHD_ENST00000525468.1_Intron	NM_031275.4	NP_112565.1	Q9BXU0	TEX12_HUMAN	testis expressed 12	67					meiotic DNA repair synthesis (GO:0000711)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.M67R(1)		endometrium(1)|large_intestine(2)|lung(1)	4		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.2e-06)|BRCA - Breast invasive adenocarcinoma(274;1.4e-06)|all cancers(92;1.97e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		ATTAATCTAATGTTGTCTACC	0.294																																					p.M67R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T200G	11						.						45.0	47.0	47.0					11																	112041370		2201	4288	6489	111546580	SO:0001583	missense	56158	exon4			AF285600	CCDS31679.1	11q23.1	2013-09-20	2007-03-13						11734	protein-coding gene	gene with protein product		605791	"""testis expressed sequence 12"""			11279525	Standard	NM_031275		Approved		uc001pnc.3	Q9BXU0		ENST00000280358.4:c.200T>G	11.37:g.112041370T>G	ENSP00000280358:p.Met67Arg	Somatic		Capture	SOLID	Phase_I	111546580	NM_031275	A6NDL9|B0YIX3	Missense_Mutation	SNP	ENST00000280358.4	37	CCDS31679.1	.	.	.	.	.	.	.	.	.	.	T	11.94	1.788113	0.31593	.	.	ENSG00000150783	ENST00000530752;ENST00000280358	.	.	.	5.31	5.31	0.75309	.	0.097957	0.45867	D	0.000335	T	0.45236	0.1332	N	0.19112	0.55	0.37539	D	0.91824	P	0.40794	0.729	P	0.45232	0.474	T	0.57027	-0.7881	9	0.87932	D	0	-9.1116	13.2571	0.60085	0.0:0.0:0.0:1.0	.	67	Q9BXU0	TEX12_HUMAN	R	67	.	ENSP00000280358:M67R	M	+	2	0	TEX12	111546580	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.362000	0.59467	2.226000	0.72624	0.482000	0.46254	ATG		0.294	TEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392417.1		
CEP164	22897	hgsc.bcm.edu	37	11	117222700	117222700	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:117222700C>T	ENST00000278935.3	+	5	536	c.389C>T	c.(388-390)tCg>tTg	p.S130L		NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	130	Interaction with ATRIP.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.S130L(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CCCAAAAGTTCGCTGGTGAGT	0.507																																					p.S130L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C389T	11						.						18.0	21.0	20.0					11																	117222700		2190	4256	6446	116727910	SO:0001583	missense	22897	exon5			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.389C>T	11.37:g.117222700C>T	ENSP00000278935:p.Ser130Leu	Somatic		Capture	SOLID	Phase_I	116727910	NM_014956	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.586211	0.00872	.	.	ENSG00000110274	ENST00000533153;ENST00000278935;ENST00000525416;ENST00000545330;ENST00000529538	T;T;T	0.64803	-0.12;0.27;-0.11	5.81	2.95	0.34219	.	2.214700	0.01793	N	0.032421	T	0.38852	0.1056	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.12630	0.001;0.001;0.006;0.001	B;B;B;B	0.08055	0.0;0.0;0.003;0.001	T	0.32534	-0.9903	9	.	.	.	0.2087	5.727	0.18018	0.139:0.6359:0.0:0.2251	.	130;84;130;130	E9PI34;B7Z884;Q9UPV0;Q9UPV0-2	.;.;CE164_HUMAN;.	L	84;130;84;84;130	ENSP00000436034:S84L;ENSP00000278935:S130L;ENSP00000435759:S84L	.	S	+	2	0	CEP164	116727910	0.000000	0.05858	0.008000	0.14137	0.019000	0.09904	-0.337000	0.07852	0.802000	0.34089	-0.140000	0.14226	TCG		0.507	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956	
DSCAML1	57453	hgsc.bcm.edu	37	11	117351930	117351930	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:117351930G>A	ENST00000321322.6	-	13	2796	c.2795C>T	c.(2794-2796)tCg>tTg	p.S932L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.S662L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	872	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.S932L(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTCCCCATACGAGTTGATGGC	0.637																																					p.S932L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2795T	11						.						102.0	89.0	93.0					11																	117351930		2201	4296	6497	116857140	SO:0001583	missense	57453	exon13				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2795C>T	11.37:g.117351930G>A	ENSP00000315465:p.Ser932Leu	Somatic		Capture	SOLID	Phase_I	116857140	NM_020693	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917682	0.92249	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.69926	-0.44;-0.44	4.52	4.52	0.55395	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77412	0.4126	L	0.55017	1.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75326	-0.3357	9	0.32370	T	0.25	.	16.2307	0.82341	0.0:0.0:1.0:0.0	.	872	Q8TD84	DSCL1_HUMAN	L	662;932;639	ENSP00000434335:S662L;ENSP00000315465:S932L	ENSP00000315465:S932L	S	-	2	0	DSCAML1	116857140	1.000000	0.71417	0.945000	0.38365	0.939000	0.58152	9.213000	0.95133	2.329000	0.79093	0.485000	0.47835	TCG		0.637	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693	
MPZL3	196264	hgsc.bcm.edu	37	11	118111081	118111081	+	Missense_Mutation	SNP	C	C	T	rs201186451		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:118111081C>T	ENST00000278949.4	-	2	140	c.85G>A	c.(85-87)Gtc>Atc	p.V29I	MPZL3_ENST00000527472.1_Intron|MPZL3_ENST00000525386.1_Intron			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	29					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|hair cycle (GO:0042633)	integral component of membrane (GO:0016021)		p.V29I(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AAGGAAAAGACGATATAAACA	0.388													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19985	0.0		0.0	False		,,,				2504	0.0				p.V29I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G85A	11						.						136.0	119.0	125.0					11																	118111081		2200	4296	6496	117616291	SO:0001583	missense	196264	exon2			AK095399	CCDS8392.1, CCDS66241.1	11q23.3	2013-01-11			ENSG00000160588	ENSG00000160588		"""Immunoglobulin superfamily / V-set domain containing"""	27279	protein-coding gene	gene with protein product		611707				17273165	Standard	NM_198275		Approved		uc001psm.3	Q6UWV2	OTTHUMG00000166966	ENST00000278949.4:c.85G>A	11.37:g.118111081C>T	ENSP00000278949:p.Val29Ile	Somatic		Capture	SOLID	Phase_I	117616291	NM_198275	A8K025|B4DLD5|B4E2I8	Missense_Mutation	SNP	ENST00000278949.4	37	CCDS8392.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.84	2.654334	0.47467	.	.	ENSG00000160588	ENST00000278949	D	0.95238	-3.65	5.51	4.6	0.57074	.	0.344830	0.26387	N	0.024677	D	0.89911	0.6852	L	0.29908	0.895	0.80722	D	1	B	0.17268	0.021	B	0.09377	0.004	D	0.86018	0.1505	10	0.37606	T	0.19	.	13.73	0.62781	0.0:0.9257:0.0:0.0743	.	29	Q6UWV2	MPZL3_HUMAN	I	29	ENSP00000278949:V29I	ENSP00000278949:V29I	V	-	1	0	MPZL3	117616291	0.022000	0.18835	0.689000	0.30133	0.991000	0.79684	0.853000	0.27777	1.462000	0.47948	0.655000	0.94253	GTC		0.388	MPZL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392109.1	NM_198275	
FOXR1	283150	hgsc.bcm.edu	37	11	118851941	118851941	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:118851941C>T	ENST00000317011.3	+	6	1099	c.874C>T	c.(874-876)Ctt>Ttt	p.L292F		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	292					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L292F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CCTCTTTGATCTTTAACCCCA	0.453																																					p.L292F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C874T	11						.						239.0	228.0	232.0					11																	118851941		2200	4295	6495	118357151	SO:0001583	missense	283150	exon6			AB094092	CCDS31688.1	11q23.3	2008-02-05			ENSG00000176302	ENSG00000176302		"""Forkhead boxes"""	29980	protein-coding gene	gene with protein product		615755				15067358	Standard	XM_005271514		Approved	DLNB13, FOXN5	uc001pui.3	Q6PIV2	OTTHUMG00000166347	ENST00000317011.3:c.874C>T	11.37:g.118851941C>T	ENSP00000314806:p.Leu292Phe	Somatic		Capture	SOLID	Phase_I	118357151	NM_181721	B0YJ15|Q08AS8|Q86UT9|Q8IXX2	Missense_Mutation	SNP	ENST00000317011.3	37	CCDS31688.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887476	0.52014	.	.	ENSG00000176302	ENST00000317011	D	0.97256	-4.31	5.59	4.45	0.53987	.	0.293358	0.27469	N	0.019240	D	0.94922	0.8358	L	0.58101	1.795	0.37967	D	0.933177	B	0.24882	0.113	B	0.25506	0.061	D	0.93826	0.7123	10	0.87932	D	0	.	8.7832	0.34804	0.0:0.8722:0.0:0.1277	.	292	Q6PIV2	FOXR1_HUMAN	F	292	ENSP00000314806:L292F	ENSP00000314806:L292F	L	+	1	0	FOXR1	118357151	0.863000	0.29885	0.952000	0.39060	0.857000	0.48899	2.204000	0.42761	1.357000	0.45904	0.655000	0.94253	CTT		0.453	FOXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389312.1	NM_181721	
TRIM29	23650	hgsc.bcm.edu	37	11	119991309	119991309	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:119991309C>A	ENST00000341846.5	-	6	1921	c.1500G>T	c.(1498-1500)aaG>aaT	p.K500N	TRIM29_ENST00000529044.1_Missense_Mutation_p.K239N|TRIM29_ENST00000524816.3_Missense_Mutation_p.K66N|TRIM29_ENST00000541857.1_Missense_Mutation_p.K233N|TRIM29_ENST00000528870.1_Missense_Mutation_p.K33N|TRIM29_ENST00000525887.1_5'UTR	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	500					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K500N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		TGTTGAAATTCTTCTGGGTGG	0.562																																					p.K500N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1500T	11						.						96.0	92.0	93.0					11																	119991309		2199	4295	6494	119496519	SO:0001583	missense	23650	exon6			AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.1500G>T	11.37:g.119991309C>A	ENSP00000343129:p.Lys500Asn	Somatic		Capture	SOLID	Phase_I	119496519	NM_012101	Q96AA9|Q9BZY7	Missense_Mutation	SNP	ENST00000341846.5	37	CCDS8428.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.77|17.77	3.472149|3.472149	0.63737|0.63737	.|.	.|.	ENSG00000137699|ENSG00000137699	ENST00000525327;ENST00000524956|ENST00000341846;ENST00000541857;ENST00000533302;ENST00000524816;ENST00000528870;ENST00000529044;ENST00000526881	.|T	.|0.40756	.|1.02	4.81|4.81	4.81|4.81	0.61882|0.61882	.|.	.|0.299903	.|0.27544	.|N	.|0.018881	.|T	.|0.40322	.|0.1112	N|N	0.24115|0.24115	0.695|0.695	0.36176|0.36176	D|D	0.849075|0.849075	.|P;P;B	.|0.51351	.|0.944;0.944;0.201	.|P;P;B	.|0.52957	.|0.714;0.714;0.034	.|T	.|0.44360	.|-0.9333	.|9	.|.	.|.	.|.	.|.	13.3778|13.3778	0.60750|0.60750	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|233;239;500	.|B7Z8U9;E9PRL4;Q14134	.|.;.;TRI29_HUMAN	X|N	93;38|500;233;48;66;33;239;35	.|ENSP00000343129:K500N	.|.	E|K	-|-	1|3	0|2	TRIM29|TRIM29	119496519|119496519	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.688000|0.688000	0.40055|0.40055	3.536000|3.536000	0.53582|0.53582	2.220000|2.220000	0.72140|0.72140	0.462000|0.462000	0.41574|0.41574	GAA|AAG		0.562	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101	
TECTA	7007	hgsc.bcm.edu	37	11	120989335	120989335	+	Missense_Mutation	SNP	A	A	G	rs612969	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:120989335A>G	ENST00000392793.1	+	7	1382	c.1111A>G	c.(1111-1113)Aga>Gga	p.R371G	TECTA_ENST00000264037.2_Missense_Mutation_p.R371G			O75443	TECTA_HUMAN	tectorin alpha	371	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.		R -> G (in dbSNP:rs612969). {ECO:0000269|PubMed:10987647, ECO:0000269|PubMed:9590290}.		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)			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)		TGAACACCGCAGAGGTTCAGC	0.547													G|||	2220	0.443291	0.7428	0.3818	5008	,	,		19359	0.246		0.4314	False		,,,				2504	0.2975				p.R371G												.	.	0			c.A1111G	11						.	G	GLY/ARG	2922,1484	474.6+/-357.0	963,996,244	93.0	93.0	93.0		1111	3.9	0.0	11	dbSNP_83	93	3545,5053	629.9+/-398.3	740,2065,1494	yes	missense	TECTA	NM_005422.2	125	1703,3061,1738	GG,GA,AA		41.2305,33.6813,49.7309	benign	371/2156	120989335	6467,6537	2203	4299	6502	120494545	SO:0001583	missense	7007	exon6			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.1111A>G	11.37:g.120989335A>G	ENSP00000376543:p.Arg371Gly	Somatic		Capture	SOLID	Phase_I	120494545	NM_005422		Missense_Mutation	SNP	ENST00000392793.1	37	CCDS8434.1	1008	0.46153846153846156	356	0.7235772357723578	147	0.40607734806629836	170	0.2972027972027972	335	0.4419525065963061	G	3.893	-0.023615	0.07634	0.663187	0.412305	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.58060	0.36;0.36	5.72	3.86	0.44501	von Willebrand factor, type D domain (3);	0.115400	0.64402	N	0.000018	T	0.00012	0.0000	N	0.00223	-1.815	0.50632	P	1.1899999999998023E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.47799	-0.9089	9	0.02654	T	1	.	11.7181	0.51666	0.1898:0.0:0.8102:0.0	rs612969;rs58667510;rs612969	371	O75443	TECTA_HUMAN	G	371	ENSP00000376543:R371G;ENSP00000264037:R371G	ENSP00000264037:R371G	R	+	1	2	TECTA	120494545	1.000000	0.71417	0.003000	0.11579	0.877000	0.50540	4.856000	0.62932	0.364000	0.24374	-0.213000	0.12676	AGA		0.547	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
SLC37A2	219855	hgsc.bcm.edu	37	11	124950673	124950673	+	Missense_Mutation	SNP	G	G	A	rs553813598		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:124950673G>A	ENST00000403796.2	+	7	992	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	SLC37A2_ENST00000298280.5_Missense_Mutation_p.E231K|SLC37A2_ENST00000308074.4_Missense_Mutation_p.E231K|SLC37A2_ENST00000407458.1_Missense_Mutation_p.E231K	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	231					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.E231K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		CTTCCTCATCGAACGTGAGTG	0.572																																					p.E231K	Melanoma(11;373 620 21213 26083 47768)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G691A	11						.						79.0	65.0	70.0					11																	124950673		2201	4299	6500	124455883	SO:0001583	missense	219855	exon7			AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"""Solute carriers"""	20644	protein-coding gene	gene with protein product			"""solute carrier family 37 (glycerol-3-phosphate transporter), member 2"""				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.691G>A	11.37:g.124950673G>A	ENSP00000384407:p.Glu231Lys	Somatic		Capture	SOLID	Phase_I	124455883	NM_001145290	A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Missense_Mutation	SNP	ENST00000403796.2	37	CCDS44757.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110814	0.77210	.	.	ENSG00000134955	ENST00000403796;ENST00000407458;ENST00000298280;ENST00000308074	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.08	5.08	0.68730	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.83552	0.5279	M	0.87547	2.89	0.80722	D	1	D;D	0.76494	0.999;0.976	D;P	0.67382	0.951;0.82	D	0.84522	0.0628	10	0.44086	T	0.13	-14.6631	18.6527	0.91437	0.0:0.0:1.0:0.0	.	231;231	Q8TED4-2;Q8TED4	.;SPX2_HUMAN	K	231	ENSP00000384407:E231K;ENSP00000385126:E231K;ENSP00000298280:E231K;ENSP00000311833:E231K	ENSP00000298280:E231K	E	+	1	0	SLC37A2	124455883	1.000000	0.71417	0.977000	0.42913	0.126000	0.20510	9.232000	0.95325	2.653000	0.90120	0.563000	0.77884	GAA		0.572	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386837.1	XM_166184	
ARHGAP32	9743	hgsc.bcm.edu	37	11	128841011	128841011	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:128841011C>T	ENST00000310343.9	-	22	4054	c.4055G>A	c.(4054-4056)cGa>cAa	p.R1352Q	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R1003Q|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R1003Q	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1352					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.R1003Q(1)|p.R1352Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ATCCATGGCTCGAGGTTCAGG	0.498																																					p.R1003Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3008A	11						.						73.0	71.0	71.0					11																	128841011		2201	4297	6498	128346221	SO:0001583	missense	9743	exon13			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.4055G>A	11.37:g.128841011C>T	ENSP00000310561:p.Arg1352Gln	Somatic		Capture	SOLID	Phase_I	128346221	NM_014715	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.200003	0.58126	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.09255	3.01;3.0;3.0	5.83	3.97	0.46021	.	0.485675	0.20995	N	0.081976	T	0.12603	0.0306	M	0.62723	1.935	0.24380	N	0.994791	B	0.25486	0.127	B	0.13407	0.009	T	0.13656	-1.0501	10	0.72032	D	0.01	.	10.0724	0.42341	0.0:0.8534:0.0:0.1466	.	1352	A7KAX9	RHG32_HUMAN	Q	1352;1003;1003	ENSP00000310561:R1352Q;ENSP00000376425:R1003Q;ENSP00000432862:R1003Q	ENSP00000310561:R1352Q	R	-	2	0	ARHGAP32	128346221	0.012000	0.17670	0.984000	0.44739	0.945000	0.59286	0.164000	0.16542	0.818000	0.34468	0.655000	0.94253	CGA		0.498	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715	
OR52A5	390054	hgsc.bcm.edu	37	11	5153659	5153659	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:5153659C>A	ENST00000307388.1	-	1	213	c.214G>T	c.(214-216)Gac>Tac	p.D72Y		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	72					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D72Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGTGCAATGTCTGTGGCTGCC	0.373																																					p.D72Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G214T	11						.						72.0	71.0	71.0					11																	5153659		2201	4298	6499	5110235	SO:0001583	missense	390054	exon1			BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.214G>T	11.37:g.5153659C>A	ENSP00000303469:p.Asp72Tyr	Somatic		Capture	SOLID	Phase_I	5110235	NM_001005160		Missense_Mutation	SNP	ENST00000307388.1	37	CCDS31373.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301687	0.40694	.	.	ENSG00000171944	ENST00000307388	T	0.68025	-0.3	5.22	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000242	D	0.89343	0.6688	H	0.99435	4.565	0.46749	D	0.999188	D	0.89917	1.0	D	0.75484	0.986	D	0.93481	0.6827	10	0.87932	D	0	.	14.0676	0.64839	0.1518:0.8482:0.0:0.0	.	72	Q9H2C5	O52A5_HUMAN	Y	72	ENSP00000303469:D72Y	ENSP00000303469:D72Y	D	-	1	0	OR52A5	5110235	0.997000	0.39634	0.998000	0.56505	0.135000	0.20990	3.597000	0.54031	1.408000	0.46895	0.655000	0.94253	GAC		0.373	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160	
OR51V1	283111	hgsc.bcm.edu	37	11	5221197	5221197	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:5221197T>G	ENST00000321255.1	-	1	733	c.734A>C	c.(733-735)aAa>aCa	p.K245T		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	245					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K245T(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGAAATAATTTATGCCTCTC	0.448																																					p.K245T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A734C	11						.						114.0	106.0	109.0					11																	5221197		2201	4298	6499	5177773	SO:0001583	missense	283111	exon1			BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.734A>C	11.37:g.5221197T>G	ENSP00000321729:p.Lys245Thr	Somatic		Capture	SOLID	Phase_I	5177773	NM_001004760		Missense_Mutation	SNP	ENST00000321255.1	37	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	T	12.29	1.894049	0.33442	.	.	ENSG00000176742	ENST00000321255	T	0.52526	0.66	5.27	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000046	T	0.76263	0.3963	H	0.96111	3.77	0.34319	D	0.686364	D	0.89917	1.0	D	0.97110	1.0	D	0.86093	0.1551	10	0.87932	D	0	.	10.6953	0.45894	0.1428:0.0:0.0:0.8572	.	245	Q9H2C8	O51V1_HUMAN	T	245	ENSP00000321729:K245T	ENSP00000321729:K245T	K	-	2	0	OR51V1	5177773	0.999000	0.42202	0.026000	0.17262	0.008000	0.06430	3.457000	0.53007	0.983000	0.38602	0.533000	0.62120	AAA		0.448	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760	
OR51B4	79339	hgsc.bcm.edu	37	11	5322958	5322958	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:5322958G>A	ENST00000380224.1	-	1	268	c.219C>T	c.(217-219)ttC>ttT	p.F73F	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	73					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F73F(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		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)		GCATTGTAGTGAATGTCATCC	0.517																																					p.F73F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C219T	11						.						125.0	116.0	119.0					11																	5322958		2201	4297	6498	5279534	SO:0001819	synonymous_variant	79339	exon1			BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"""GPCR / Class A : Olfactory receptors"""	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.219C>T	11.37:g.5322958G>A		Somatic		Capture	SOLID	Phase_I	5279534	NM_033179	A7MAV5|Q6NTD7	Silent	SNP	ENST00000380224.1	37	CCDS7757.1																																																																																				0.517	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179	
TRIM6	117854	hgsc.bcm.edu	37	11	5626618	5626618	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:5626618C>T	ENST00000278302.5	+	4	711	c.571C>T	c.(571-573)Cga>Tga	p.R191*	TRIM6-TRIM34_ENST00000354852.5_Nonsense_Mutation_p.R219*|TRIM6_ENST00000515022.1_Nonsense_Mutation_p.R16*|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000380097.3_Nonsense_Mutation_p.R219*|TRIM6_ENST00000507320.1_Nonsense_Mutation_p.R16*|TRIM6_ENST00000445329.1_Nonsense_Mutation_p.R16*|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000380107.1_Nonsense_Mutation_p.R165*|TRIM6_ENST00000506134.1_Nonsense_Mutation_p.R16*	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	191					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.R219*(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		TAATCAGCTGCGAAATATCCT	0.483											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.R16X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C46T	11						.						88.0	92.0	91.0					11																	5626618		2201	4297	6498	5583194	SO:0001587	stop_gained	117854	exon3			AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.571C>T	11.37:g.5626618C>T	ENSP00000278302:p.Arg191*	Somatic	627	Capture	SOLID	Phase_I	5583194	NM_001198644	A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Nonsense_Mutation	SNP	ENST00000278302.5	37	CCDS31390.1	.	.	.	.	.	.	.	.	.	.	C	36	5.610736	0.96637	.	.	ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000258659;ENSG00000258588	ENST00000278302;ENST00000424369;ENST00000507320;ENST00000380107;ENST00000380097;ENST00000445329;ENST00000396867;ENST00000515022;ENST00000506134;ENST00000337072;ENST00000354852	.	.	.	4.87	2.65	0.31530	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8981	0.41331	0.3135:0.6864:0.0:0.0	.	.	.	.	X	191;16;16;165;219;16;98;16;16;219;219	.	ENSP00000278302:R191X	R	+	1	2	TRIM34;TRIM6;TRIM6-TRIM34	5583194	0.758000	0.28405	0.142000	0.22268	0.440000	0.31957	1.585000	0.36600	1.190000	0.43042	0.655000	0.94253	CGA		0.483	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818	
TRIM6	117854	hgsc.bcm.edu	37	11	5626618	5626618	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:5626618C>T	ENST00000278302.5	+	4	711	c.571C>T	c.(571-573)Cga>Tga	p.R191*	TRIM6-TRIM34_ENST00000354852.5_Nonsense_Mutation_p.R219*|TRIM6_ENST00000515022.1_Nonsense_Mutation_p.R16*|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000380097.3_Nonsense_Mutation_p.R219*|TRIM6_ENST00000507320.1_Nonsense_Mutation_p.R16*|TRIM6_ENST00000445329.1_Nonsense_Mutation_p.R16*|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000380107.1_Nonsense_Mutation_p.R165*|TRIM6_ENST00000506134.1_Nonsense_Mutation_p.R16*	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	191					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.R219*(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		TAATCAGCTGCGAAATATCCT	0.483											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.R16X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C46T	11						.						88.0	92.0	91.0					11																	5626618		2201	4297	6498	5583194	SO:0001587	stop_gained	445372	exon3			AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.571C>T	11.37:g.5626618C>T	ENSP00000278302:p.Arg191*	Somatic	627	Capture	SOLID	Phase_I	5583194	NM_001198644	A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Nonsense_Mutation	SNP	ENST00000278302.5	37	CCDS31390.1	.	.	.	.	.	.	.	.	.	.	C	36	5.610736	0.96637	.	.	ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000258659;ENSG00000258588	ENST00000278302;ENST00000424369;ENST00000507320;ENST00000380107;ENST00000380097;ENST00000445329;ENST00000396867;ENST00000515022;ENST00000506134;ENST00000337072;ENST00000354852	.	.	.	4.87	2.65	0.31530	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8981	0.41331	0.3135:0.6864:0.0:0.0	.	.	.	.	X	191;16;16;165;219;16;98;16;16;219;219	.	ENSP00000278302:R191X	R	+	1	2	TRIM34;TRIM6;TRIM6-TRIM34	5583194	0.758000	0.28405	0.142000	0.22268	0.440000	0.31957	1.585000	0.36600	1.190000	0.43042	0.655000	0.94253	CGA		0.483	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818	
OR56A4	120793	hgsc.bcm.edu	37	11	6024114	6024114	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:6024114G>T	ENST00000330728.4	-	1	310	c.265C>A	c.(265-267)Ctc>Atc	p.L89I		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L89I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGAGGAAGAGAAGGCTGAGG	0.592																																					p.L89I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C265A	11						.						78.0	75.0	76.0					11																	6024114		2201	4296	6497	5980690	SO:0001583	missense	120793	exon1			BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.265C>A	11.37:g.6024114G>T	ENSP00000328215:p.Leu89Ile	Somatic		Capture	SOLID	Phase_I	5980690	NM_001005179	B9EH17	Missense_Mutation	SNP	ENST00000330728.4	37	CCDS31404.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811266	0.50527	.	.	ENSG00000183389	ENST00000330728	T	0.01821	4.62	3.62	2.68	0.31781	.	0.000000	0.28606	U	0.014745	T	0.01870	0.0059	L	0.28115	0.83	0.26443	N	0.975736	P	0.48911	0.917	P	0.44447	0.45	T	0.51593	-0.8686	10	0.37606	T	0.19	.	9.5034	0.39031	0.0:0.0:0.4916:0.5084	.	37	Q8NGH8	O56A4_HUMAN	I	89	ENSP00000328215:L89I	ENSP00000328215:L89I	L	-	1	0	OR56A4	5980690	0.001000	0.12720	0.999000	0.59377	0.945000	0.59286	-0.257000	0.08745	0.813000	0.34350	0.555000	0.69702	CTC		0.592	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179	
SAA1	6288	hgsc.bcm.edu	37	11	18291332	18291332	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:18291332C>T	ENST00000405158.2	+	4	483	c.299C>T	c.(298-300)gCc>gTc	p.A100V	SAA1_ENST00000532858.1_Missense_Mutation_p.A100V|SAA1_ENST00000356524.4_Missense_Mutation_p.A100V	NM_000331.4	NP_000322	P0DJI8	SAA1_HUMAN	serum amyloid A1	100				ADQAAN -> SEATVK (in Ref. 9; AA sequence). {ECO:0000305}.	acute-phase response (GO:0006953)|innate immune response (GO:0045087)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of inflammatory response (GO:0050728)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of interleukin-1 secretion (GO:0050716)|regulation of protein secretion (GO:0050708)	endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)	p.A100V(1)		endometrium(1)|large_intestine(3)|lung(2)|stomach(3)	9					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GATCAGGCTGCCAATGAATGG	0.527																																					p.A100V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C299T	11						.						117.0	100.0	106.0					11																	18291332		2199	4293	6492	18247908	SO:0001583	missense	6288	exon5			M10906	CCDS7835.1	11p15.1	2014-01-30			ENSG00000173432	ENSG00000173432		"""Endogenous ligands"""	10513	protein-coding gene	gene with protein product		104750		SAA		2595451, 9305847	Standard	NM_199161		Approved	PIG4, TP53I4	uc021qeo.1	P0DJI8	OTTHUMG00000166147	ENST00000405158.2:c.299C>T	11.37:g.18291332C>T	ENSP00000384906:p.Ala100Val	Somatic		Capture	SOLID	Phase_I	18247908	NM_001178006	P02735|P02736|P02737|Q16730|Q16834|Q16835|Q16879|Q3KRB3|Q6FG67|Q96QN0|Q9UCK9|Q9UCL0	Missense_Mutation	SNP	ENST00000405158.2	37	CCDS7835.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.784266	0.70222	.	.	ENSG00000173432	ENST00000356524;ENST00000532858;ENST00000405158	T;T;T	0.19250	2.16;2.16;2.16	3.55	2.61	0.31194	.	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	M	0.93763	3.455	0.38567	D	0.94985	D;D	0.89917	0.999;1.0	D;D	0.97110	0.992;1.0	T	0.63391	-0.6648	10	0.59425	D	0.04	.	9.9581	0.41680	0.2042:0.7958:0.0:0.0	.	100;100	D3DQX7;P02735	.;SAA_HUMAN	V	100	ENSP00000348918:A100V;ENSP00000436866:A100V;ENSP00000384906:A100V	ENSP00000348918:A100V	A	+	2	0	SAA1	18247908	1.000000	0.71417	0.251000	0.24312	0.084000	0.17831	5.881000	0.69706	1.031000	0.39867	0.561000	0.74099	GCC		0.527	SAA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395864.1	NM_199161	
LDHAL6A	160287	hgsc.bcm.edu	37	11	18499237	18499237	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:18499237G>T	ENST00000280706.2	+	6	1578	c.781G>T	c.(781-783)Gaa>Taa	p.E261*	LDHAL6A_ENST00000396213.3_Nonsense_Mutation_p.E261*|TSG101_ENST00000536719.1_Intron	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	261					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	L-lactate dehydrogenase activity (GO:0004459)	p.E261*(1)		large_intestine(3)|lung(9)|urinary_tract(1)	13						TGATTTAACAGAAAGTATTTT	0.353																																					p.E261X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G781T	11						.						127.0	124.0	125.0					11																	18499237		2199	4293	6492	18455813	SO:0001587	stop_gained	160287	exon7			AK131523	CCDS7841.1	11p15.1	2011-01-27			ENSG00000166800	ENSG00000166800			28335	protein-coding gene	gene with protein product						12477932	Standard	NM_001144071		Approved	MGC23940, LDH6A	uc001mop.1	Q6ZMR3	OTTHUMG00000167724	ENST00000280706.2:c.781G>T	11.37:g.18499237G>T	ENSP00000280706:p.Glu261*	Somatic		Capture	SOLID	Phase_I	18455813	NM_001144071	D3DQY5	Nonsense_Mutation	SNP	ENST00000280706.2	37	CCDS7841.1	.	.	.	.	.	.	.	.	.	.	G	37	5.979633	0.97168	.	.	ENSG00000166800	ENST00000396213;ENST00000280706	.	.	.	4.58	2.55	0.30701	.	0.172048	0.37304	U	0.002148	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	9.3515	0.38140	0.0879:0.1479:0.7642:0.0	.	.	.	.	X	261	.	ENSP00000280706:E261X	E	+	1	0	LDHAL6A	18455813	1.000000	0.71417	0.105000	0.21289	0.818000	0.46254	4.169000	0.58223	2.077000	0.62373	0.563000	0.77884	GAA		0.353	LDHAL6A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395904.1	NM_144972	
NAV2	89797	hgsc.bcm.edu	37	11	20057624	20057624	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:20057624G>A	ENST00000396087.3	+	13	3056	c.2957G>A	c.(2956-2958)cGa>cAa	p.R986Q	NAV2_ENST00000540292.1_Missense_Mutation_p.R917Q|NAV2_ENST00000360655.4_Missense_Mutation_p.R899Q|NAV2_ENST00000311043.8_Missense_Mutation_p.R49Q|NAV2_ENST00000349880.4_Missense_Mutation_p.R963Q|NAV2_ENST00000527559.2_Missense_Mutation_p.R915Q|NAV2_ENST00000533917.1_Missense_Mutation_p.R49Q|NAV2_ENST00000396085.1_Missense_Mutation_p.R963Q	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	986					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.R986Q(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						GCCTCCTCTCGAAAAAACCTG	0.577																																					p.R963Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2888A	11						.						204.0	138.0	161.0					11																	20057624		2203	4300	6503	20014200	SO:0001583	missense	89797	exon12			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.2957G>A	11.37:g.20057624G>A	ENSP00000379396:p.Arg986Gln	Somatic		Capture	SOLID	Phase_I	20014200	NM_145117	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	28.0	4.878705	0.91740	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000530408;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T;T	0.41065	1.16;1.25;1.26;1.11;1.01;1.02;2.8;1.43;1.16;2.8	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000009	T	0.62575	0.2439	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.83275	0.99;0.99;0.973;0.996	T	0.56202	-0.8018	9	.	.	.	.	20.2265	0.98340	0.0:0.0:1.0:0.0	.	49;49;963;899	Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	Q	899;963;963;986;915;917;49;49;49;49;49	ENSP00000353871:R899Q;ENSP00000379394:R963Q;ENSP00000309577:R963Q;ENSP00000379396:R986Q;ENSP00000435395:R915Q;ENSP00000443489:R917Q;ENSP00000437316:R49Q;ENSP00000437136:R49Q;ENSP00000431276:R49Q;ENSP00000312169:R49Q	.	R	+	2	0	NAV2	20014200	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.864000	0.99589	2.769000	0.95229	0.655000	0.94253	CGA		0.577	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	
NAV2	89797	hgsc.bcm.edu	37	11	20127235	20127235	+	Missense_Mutation	SNP	G	G	A	rs201060203		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:20127235G>A	ENST00000396087.3	+	38	7079	c.6980G>A	c.(6979-6981)cGc>cAc	p.R2327H	NAV2_ENST00000540292.1_Missense_Mutation_p.R2258H|NAV2_ENST00000360655.4_Missense_Mutation_p.R2204H|NAV2_ENST00000311043.8_Missense_Mutation_p.R1332H|NAV2_ENST00000349880.4_Missense_Mutation_p.R2268H|NAV2_ENST00000527559.2_Missense_Mutation_p.R2256H|NAV2_ENST00000533917.1_Missense_Mutation_p.R1332H|NAV2_ENST00000396085.1_Missense_Mutation_p.R2271H	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2327					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.R2327H(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						CACCTCAACCGCTTCCTGGAG	0.597																																					p.R2268H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6803A	11						.						99.0	91.0	94.0					11																	20127235		2203	4300	6503	20083811	SO:0001583	missense	89797	exon35			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.6980G>A	11.37:g.20127235G>A	ENSP00000379396:p.Arg2327His	Somatic		Capture	SOLID	Phase_I	20083811	NM_145117	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	16.62	3.173650	0.57584	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000311043	T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.25	4.33	0.51752	.	0.255203	0.30676	N	0.009102	T	0.31231	0.0790	L	0.50333	1.59	0.54753	D	0.99998	B;B;B;B	0.20780	0.007;0.008;0.012;0.048	B;B;B;B	0.14023	0.004;0.003;0.008;0.01	T	0.16364	-1.0405	9	.	.	.	.	5.2975	0.15760	0.2874:0.0:0.7126:0.0	.	2271;1332;2268;2204	A7E2D6;Q8IVL1-5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	H	2204;2271;2268;2327;2256;2258;1332;1332	ENSP00000353871:R2204H;ENSP00000379394:R2271H;ENSP00000309577:R2268H;ENSP00000379396:R2327H;ENSP00000435395:R2256H;ENSP00000443489:R2258H;ENSP00000437316:R1332H;ENSP00000312169:R1332H	.	R	+	2	0	NAV2	20083811	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.532000	0.53553	2.462000	0.83206	0.655000	0.94253	CGC		0.597	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	
SLC17A6	57084	hgsc.bcm.edu	37	11	22397592	22397592	+	Silent	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:22397592C>A	ENST00000263160.3	+	10	1676	c.1239C>A	c.(1237-1239)atC>atA	p.I413I		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	413					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.I413I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GGGTAGCAATCTCATTCTTGG	0.393																																					p.I413I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1239A	11						.						179.0	185.0	183.0					11																	22397592		2203	4300	6503	22354168	SO:0001819	synonymous_variant	57084	exon10			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1239C>A	11.37:g.22397592C>A		Somatic		Capture	SOLID	Phase_I	22354168	NM_020346	A6NKS2	Silent	SNP	ENST00000263160.3	37	CCDS7856.1																																																																																				0.393	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346	
SLC5A12	159963	hgsc.bcm.edu	37	11	26742955	26742955	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:26742955A>G	ENST00000396005.3	-	1	616	c.307T>C	c.(307-309)Ttc>Ctc	p.F103L	SLC5A12_ENST00000280467.6_Missense_Mutation_p.F103L	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	103					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.F103L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GATCTGTAGAACACAGGGAGA	0.418																																					p.F103L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T307C	11						.						76.0	78.0	77.0					11																	26742955		2203	4299	6502	26699531	SO:0001583	missense	159963	exon1			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.307T>C	11.37:g.26742955A>G	ENSP00000379326:p.Phe103Leu	Somatic		Capture	SOLID	Phase_I	26699531	NM_178498	Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	A	35	5.508860	0.96386	.	.	ENSG00000148942	ENST00000396005;ENST00000280467	D;D	0.86297	-2.1;-2.1	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.94430	0.8208	M	0.88979	2.995	0.80722	D	1	D;D	0.65815	0.974;0.995	P;D	0.72075	0.846;0.976	D	0.95247	0.8356	10	0.87932	D	0	.	16.3627	0.83275	1.0:0.0:0.0:0.0	.	103;103	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	L	103	ENSP00000379326:F103L;ENSP00000280467:F103L	ENSP00000280467:F103L	F	-	1	0	SLC5A12	26699531	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.295000	0.96095	2.263000	0.75096	0.528000	0.53228	TTC		0.418	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498	
KIF18A	81930	hgsc.bcm.edu	37	11	28110259	28110259	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:28110259G>A	ENST00000263181.6	-	6	999	c.709C>T	c.(709-711)Cga>Tga	p.R237*		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	237	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 metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)	p.R237*(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TCTTGTTGTCGCAAGTAAATC	0.333																																					p.R237X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C709T	11						.						91.0	79.0	83.0					11																	28110259		2202	4299	6501	28066835	SO:0001587	stop_gained	81930	exon6			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.709C>T	11.37:g.28110259G>A	ENSP00000263181:p.Arg237*	Somatic		Capture	SOLID	Phase_I	28066835	NM_031217	Q4VPE3|Q86VS5|Q9H0F3	Nonsense_Mutation	SNP	ENST00000263181.6	37	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	G	40	8.066957	0.98638	.	.	ENSG00000121621	ENST00000263181	.	.	.	5.76	2.55	0.30701	.	0.096519	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	15.2669	0.73669	0.0:0.0:0.5455:0.4545	.	.	.	.	X	237	.	ENSP00000263181:R237X	R	-	1	2	KIF18A	28066835	0.998000	0.40836	1.000000	0.80357	0.940000	0.58332	2.433000	0.44793	1.405000	0.46838	0.591000	0.81541	CGA		0.333	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217	
CD44	960	hgsc.bcm.edu	37	11	35211510	35211510	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:35211510A>G	ENST00000428726.2	+	5	688	c.565A>G	c.(565-567)Act>Gct	p.T189A	CD44_ENST00000263398.6_Missense_Mutation_p.T189A|CD44_ENST00000433892.2_Missense_Mutation_p.T189A|CD44_ENST00000415148.2_Missense_Mutation_p.T189A|CD44_ENST00000526669.2_Intron|CD44_ENST00000360158.4_Missense_Mutation_p.T189A|CD44_ENST00000278386.6_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.T189A|CD44_ENST00000352818.4_Missense_Mutation_p.T189A|CD44_ENST00000437706.2_Missense_Mutation_p.T189A|CD44_ENST00000434472.2_Missense_Mutation_p.T189A|CD44_ENST00000433354.2_Missense_Mutation_p.T189A	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	189					blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.T189A(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	AAGGAGCAGCACTTCAGGAGG	0.507																																					p.T189A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A565G	11						.						129.0	111.0	117.0					11																	35211510		2202	4298	6500	35168086	SO:0001583	missense	960	exon5			M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.565A>G	11.37:g.35211510A>G	ENSP00000398632:p.Thr189Ala	Somatic		Capture	SOLID	Phase_I	35168086	NM_001001391	A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	ENST00000428726.2	37	CCDS7897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.09|17.09	3.300938|3.300938	0.60195|0.60195	.|.	.|.	ENSG00000026508|ENSG00000026508	ENST00000442151;ENST00000528455|ENST00000263398;ENST00000415148;ENST00000433354;ENST00000449691;ENST00000437706;ENST00000360158;ENST00000428726;ENST00000433892;ENST00000434472;ENST00000352818;ENST00000525211;ENST00000526000;ENST00000279452;ENST00000531110;ENST00000525688;ENST00000278385;ENST00000533222	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.30714	.|1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.52;1.52;1.7;1.7;1.7;1.7	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	.|1.328840	.|0.04594	.|N	.|0.397277	T|T	0.40423|0.40423	0.1116|0.1116	N|N	0.08118|0.08118	0|0	0.33179|0.33179	D|D	0.549266|0.549266	.|B;D;B;B;B;B	.|0.89917	.|0.009;1.0;0.016;0.061;0.083;0.04	.|B;D;B;B;B;B	.|0.83275	.|0.007;0.996;0.015;0.043;0.029;0.015	T|T	0.33292|0.33292	-0.9874|-0.9874	5|10	.|0.39692	.|T	.|0.17	-21.1924|-21.1924	12.5835|12.5835	0.56403|0.56403	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|189;189;189;189;189;189	.|B6EAT9;P16070-11;P16070-12;P16070-10;P16070-4;P16070	.|.;.;.;.;.;CD44_HUMAN	R|A	188;125|189;189;189;189;189;189;189;189;189;189;168;167;149;63;28;25;22	.|ENSP00000263398:T189A;ENSP00000389830:T189A;ENSP00000414567:T189A;ENSP00000391008:T189A;ENSP00000403990:T189A;ENSP00000353280:T189A;ENSP00000398632:T189A;ENSP00000392331:T189A;ENSP00000404447:T189A;ENSP00000309732:T189A;ENSP00000432405:T168A;ENSP00000434465:T167A;ENSP00000279452:T149A;ENSP00000436549:T63A;ENSP00000436980:T28A;ENSP00000278385:T25A;ENSP00000435321:T22A	.|ENSP00000263398:T189A	H|T	+|+	2|1	0|0	CD44|CD44	35168086|35168086	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.154000|0.154000	0.21943|0.21943	4.239000|4.239000	0.58694|0.58694	2.216000|2.216000	0.71823|0.71823	0.533000|0.533000	0.62120|0.62120	CAC|ACT		0.507	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610	
TRIM44	54765	hgsc.bcm.edu	37	11	35706843	35706843	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:35706843G>A	ENST00000299413.5	+	2	1013	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K		NM_017583.4	NP_060053.2	Q96DX7	TRI44_HUMAN	tripartite motif containing 44	236						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.E236K(1)		endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				CGCTATGATCGAATTGGTGGA	0.438																																					p.E236K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G706A	11						.						152.0	146.0	148.0					11																	35706843		2202	4298	6500	35663419	SO:0001583	missense	54765	exon2			BC024031	CCDS31461.1	11p13	2011-04-20	2011-01-25		ENSG00000166326	ENSG00000166326		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19016	protein-coding gene	gene with protein product		612298	"""tripartite motif-containing 44"""				Standard	NM_017583		Approved	DIPB, MC7	uc001mwi.2	Q96DX7	OTTHUMG00000166312	ENST00000299413.5:c.706G>A	11.37:g.35706843G>A	ENSP00000299413:p.Glu236Lys	Somatic		Capture	SOLID	Phase_I	35663419	NM_017583	D3DR14|Q96QY2|Q9UGK0	Missense_Mutation	SNP	ENST00000299413.5	37	CCDS31461.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.919808	0.92249	.	.	ENSG00000166326	ENST00000299413	T	0.36699	1.24	5.56	5.56	0.83823	.	0.000000	0.38164	N	0.001782	T	0.47691	0.1459	N	0.24115	0.695	0.43673	D	0.996101	D	0.76494	0.999	D	0.70716	0.97	T	0.48479	-0.9032	10	0.66056	D	0.02	-22.0018	18.0709	0.89405	0.0:0.0:1.0:0.0	.	236	Q96DX7	TRI44_HUMAN	K	236	ENSP00000299413:E236K	ENSP00000299413:E236K	E	+	1	0	TRIM44	35663419	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.671000	0.61590	2.774000	0.95407	0.650000	0.86243	GAA		0.438	TRIM44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389081.1	NM_017583	
SYT13	57586	hgsc.bcm.edu	37	11	45277389	45277389	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:45277389G>A	ENST00000020926.3	-	2	348	c.237C>T	c.(235-237)ttC>ttT	p.F79F	CTD-2560E9.5_ENST00000531663.1_RNA|CTD-2560E9.5_ENST00000534342.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	79					vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)		p.F79F(1)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						AGATGTCTGGGAACTTGAGGA	0.517																																					p.F79F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C237T	11						.						92.0	93.0	93.0					11																	45277389		2203	4299	6502	45233965	SO:0001819	synonymous_variant	57586	exon2			AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.237C>T	11.37:g.45277389G>A		Somatic		Capture	SOLID	Phase_I	45233965	NM_020826	A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Silent	SNP	ENST00000020926.3	37	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	G	9.791	1.177924	0.21787	.	.	ENSG00000019505	ENST00000528101	.	.	.	5.42	4.51	0.55191	.	.	.	.	.	T	0.60064	0.2240	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58020	-0.7710	4	.	.	.	.	9.6689	0.40000	0.1737:0.0:0.8263:0.0	.	.	.	.	F	39	.	.	S	-	2	0	SYT13	45233965	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.981000	0.29526	1.417000	0.47077	0.561000	0.74099	TCC		0.517	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826	
CKAP5	9793	hgsc.bcm.edu	37	11	46829614	46829614	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:46829614G>A	ENST00000529230.1	-	8	991	c.945C>T	c.(943-945)ggC>ggT	p.G315G	CKAP5_ENST00000354558.3_Silent_p.G315G|CKAP5_ENST00000415402.1_Silent_p.G315G|CKAP5_ENST00000312055.5_Silent_p.G315G			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	315					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)		p.G315G(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CTGCATAATCGCCAGCTTCCA	0.393																																					p.G315G	Ovarian(4;85 273 2202 4844 13323)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C945T	11						.						242.0	251.0	248.0					11																	46829614		2201	4299	6500	46786190	SO:0001819	synonymous_variant	9793	exon8				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.945C>T	11.37:g.46829614G>A		Somatic		Capture	SOLID	Phase_I	46786190	NM_014756	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	ENST00000529230.1	37	CCDS31477.1																																																																																				0.393	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756	
MADD	8567	hgsc.bcm.edu	37	11	47333363	47333363	+	Silent	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:47333363C>A	ENST00000311027.5	+	29	4404	c.4239C>A	c.(4237-4239)atC>atA	p.I1413I	MADD_ENST00000406482.1_Silent_p.I1311I|MADD_ENST00000342922.4_Silent_p.I1354I|MADD_ENST00000405573.2_Silent_p.I223I|MADD_ENST00000402192.2_Silent_p.I1353I|MADD_ENST00000349238.3_Silent_p.I1374I|MADD_ENST00000402799.1_Silent_p.I1311I|MADD_ENST00000395344.3_Silent_p.I1307I|MADD_ENST00000407859.3_Silent_p.I1331I|MADD_ENST00000395336.3_Silent_p.I1413I	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.I1413I(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GCCAGCAAATCAATGAGGTGC	0.507																																					p.I1310I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3930A	11						.						101.0	88.0	92.0					11																	47333363		2201	4298	6499	47289939	SO:0001819	synonymous_variant	8567	exon26			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.4239C>A	11.37:g.47333363C>A		Somatic		Capture	SOLID	Phase_I	47289939	NM_001135943		Silent	SNP	ENST00000311027.5	37	CCDS7930.1																																																																																				0.507	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1		
MADD	8567	hgsc.bcm.edu	37	11	47348331	47348331	+	Nonsense_Mutation	SNP	C	C	T	rs267602902		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:47348331C>T	ENST00000311027.5	+	34	4930	c.4765C>T	c.(4765-4767)Cga>Tga	p.R1589*	MADD_ENST00000406482.1_Intron|MADD_ENST00000342922.4_Nonsense_Mutation_p.R1530*|MADD_ENST00000402192.2_Nonsense_Mutation_p.R1529*|MADD_ENST00000349238.3_Nonsense_Mutation_p.R1550*|MADD_ENST00000402799.1_Nonsense_Mutation_p.R1487*|MADD_ENST00000395344.3_Nonsense_Mutation_p.R1483*|MADD_ENST00000407859.3_Nonsense_Mutation_p.R1507*|MADD_ENST00000395336.3_Intron	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.R1589*(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CAATACAGTTCGAGGCGTCTT	0.517																																					p.R1486X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4456T	11						.						127.0	126.0	126.0					11																	47348331		2201	4298	6499	47304907	SO:0001587	stop_gained	8567	exon31			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.4765C>T	11.37:g.47348331C>T	ENSP00000310933:p.Arg1589*	Somatic		Capture	SOLID	Phase_I	47304907	NM_001135943		Nonsense_Mutation	SNP	ENST00000311027.5	37	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	C	44	10.878302	0.99482	.	.	ENSG00000110514	ENST00000342922;ENST00000402799;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000402192	.	.	.	5.84	5.84	0.93424	.	0.125350	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-5.7073	20.1278	0.97990	0.0:1.0:0.0:0.0	.	.	.	.	X	1530;1487;1550;1589;1507;1483;1529	.	ENSP00000310933:R1589X	R	+	1	2	MADD	47304907	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.513000	0.60476	2.768000	0.95171	0.561000	0.74099	CGA		0.517	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1		
FAM111B	374393	hgsc.bcm.edu	37	11	58893359	58893359	+	Missense_Mutation	SNP	G	G	A	rs146090062		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:58893359G>A	ENST00000343597.3	+	4	1980	c.1789G>A	c.(1789-1791)Gaa>Aaa	p.E597K	FAM111B_ENST00000411426.1_Missense_Mutation_p.E567K|FAM111B_ENST00000529618.1_Missense_Mutation_p.E567K	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	597							catalytic activity (GO:0003824)	p.E597K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						TCCTCTAAACGAACGATTGAA	0.363																																					p.E567K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1699A	11						.	G	LYS/GLU,LYS/GLU,LYS/GLU	1,4401	2.1+/-5.4	0,1,2200	122.0	108.0	113.0		1699,1699,1789	-9.3	0.0	11	dbSNP_134	113	0,8590		0,0,4295	no	missense,missense,missense	FAM111B	NM_001142703.1,NM_001142704.1,NM_198947.3	56,56,56	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	567/705,567/705,597/735	58893359	1,12991	2201	4295	6496	58649935	SO:0001583	missense	374393	exon2			BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1789G>A	11.37:g.58893359G>A	ENSP00000341565:p.Glu597Lys	Somatic		Capture	SOLID	Phase_I	58649935	NM_001142704	B4E2G2|Q6P661	Missense_Mutation	SNP	ENST00000343597.3	37	CCDS7972.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.388931	0.42308	2.27E-4	0.0	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	T;T;T	0.32515	1.45;1.45;1.45	4.66	-9.31	0.00646	Peptidase cysteine/serine, trypsin-like (1);	0.748436	0.11368	N	0.571193	T	0.11707	0.0285	N	0.08118	0	0.09310	N	1	B	0.32396	0.369	B	0.30401	0.115	T	0.22243	-1.0222	10	0.26408	T	0.33	.	12.7806	0.57474	0.146:0.3655:0.4885:0.0	.	597	Q6SJ93	F111B_HUMAN	K	567;567;597	ENSP00000393855:E567K;ENSP00000432875:E567K;ENSP00000341565:E597K	ENSP00000341565:E597K	E	+	1	0	FAM111B	58649935	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	-0.081000	0.11321	-1.565000	0.01676	-0.181000	0.13052	GAA		0.363	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947	
CATSPER1	117144	hgsc.bcm.edu	37	11	65790430	65790430	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:65790430A>C	ENST00000312106.5	-	2	1456	c.1319T>G	c.(1318-1320)aTc>aGc	p.I440S		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	440					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.I440S(1)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CAGGTTCCGGATCATTTCCCG	0.552											OREG0021092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I440S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1319G	11						.						113.0	112.0	112.0					11																	65790430		2201	4296	6497	65547006	SO:0001583	missense	117144	exon2			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1319T>G	11.37:g.65790430A>C	ENSP00000309052:p.Ile440Ser	Somatic	1086	Capture	SOLID	Phase_I	65547006	NM_053054	Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.318513	0.60524	.	.	ENSG00000175294	ENST00000312106	D	0.97404	-4.37	5.62	4.5	0.54988	.	0.914093	0.08750	N	0.899299	D	0.94794	0.8319	L	0.29908	0.895	0.09310	N	1	D	0.57257	0.979	P	0.46718	0.525	D	0.87987	0.2747	10	0.72032	D	0.01	-15.7114	8.2187	0.31528	0.9099:0.0:0.0901:0.0	.	440	Q8NEC5	CTSR1_HUMAN	S	440	ENSP00000309052:I440S	ENSP00000309052:I440S	I	-	2	0	CATSPER1	65547006	0.842000	0.29525	0.006000	0.13384	0.039000	0.13416	3.593000	0.54001	0.979000	0.38497	0.460000	0.39030	ATC		0.552	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054	
NUMA1	4926	hgsc.bcm.edu	37	11	71725932	71725932	+	Missense_Mutation	SNP	C	C	T	rs1053601		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:71725932C>T	ENST00000393695.3	-	15	2948	c.2617G>A	c.(2617-2619)Gaa>Aaa	p.E873K	NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.E873K	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1									p.E873K(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCAGCTAGTTCGTTCTGCTGC	0.587			T	RARA	APL																																p.E873K			Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2617A	11						.						120.0	107.0	111.0					11																	71725932		2200	4293	6493	71403580	SO:0001583	missense	4926	exon15			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.2617G>A	11.37:g.71725932C>T	ENSP00000377298:p.Glu873Lys	Somatic		Capture	SOLID	Phase_I	71403580	NM_006185		Missense_Mutation	SNP	ENST00000393695.3	37	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503778	0.44558	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652	T;T	0.12465	2.68;2.68	5.69	3.77	0.43336	.	0.105386	0.42053	D	0.000765	T	0.08935	0.0221	L	0.33485	1.01	0.09310	N	1	B;B;B;B	0.32968	0.116;0.392;0.116;0.116	B;B;B;B	0.23716	0.014;0.048;0.035;0.019	T	0.25882	-1.0119	9	.	.	.	.	9.8198	0.40876	0.0:0.6593:0.2684:0.0723	rs1053601	879;357;873;873	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	K	873;873;436	ENSP00000351851:E873K;ENSP00000377298:E873K	.	E	-	1	0	NUMA1	71403580	0.002000	0.14202	0.054000	0.19295	0.454000	0.32378	0.684000	0.25364	1.371000	0.46172	0.655000	0.94253	GAA		0.587	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1		
FCHSD2	9873	hgsc.bcm.edu	37	11	72549836	72549836	+	Nonstop_Mutation	SNP	T	T	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:72549836T>C	ENST00000409418.4	-	20	2606	c.2223A>G	c.(2221-2223)tgA>tgG	p.*741W	FCHSD2_ENST00000458644.2_Nonstop_Mutation_p.*605W|FCHSD2_ENST00000409263.1_Nonstop_Mutation_p.*102W|FCHSD2_ENST00000409314.1_Nonstop_Mutation_p.*765W|ATG16L2_ENST00000534905.1_Intron|FCHSD2_ENST00000311172.7_Nonstop_Mutation_p.*685W	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	0								p.*685W(1)|p.*741W(1)		endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			AAGCCCATCATCACACCAGTG	0.498																																					p.X741W												.	.	2	Nonstop extension(2)	large_intestine(2)	c.A2223G	11						.						111.0	83.0	92.0					11																	72549836		2198	4277	6475	72227484	SO:0001578	stop_lost	9873	exon20			AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"""SH3 multiple domains 3"""	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.2223A>G	11.37:g.72549836T>C	ENSP00000386722:p.*741Cysext*1	Somatic		Capture	SOLID	Phase_I	72227484	NM_014824	B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Missense_Mutation	SNP	ENST00000409418.4	37	CCDS8218.2	.	.	.	.	.	.	.	.	.	.	T	26.4	4.730681	0.89390	.	.	ENSG00000137478	ENST00000311172;ENST00000409314;ENST00000409418;ENST00000409263;ENST00000458644	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0034	0.80327	0.0:0.0:0.0:1.0	.	.	.	.	W	685;765;741;102;605	.	.	X	-	3	0	FCHSD2	72227484	1.000000	0.71417	0.985000	0.45067	0.971000	0.66376	7.466000	0.80914	2.371000	0.80710	0.533000	0.62120	TGA		0.498	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	NM_014824	
DGAT2	84649	hgsc.bcm.edu	37	11	75511497	75511497	+	Missense_Mutation	SNP	G	G	A	rs371445822		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:75511497G>A	ENST00000228027.7	+	8	1371	c.1111G>A	c.(1111-1113)Gac>Aac	p.D371N	DGAT2_ENST00000376262.3_Missense_Mutation_p.D328N|RP11-535A19.1_ENST00000534354.1_RNA|RP11-535A19.2_ENST00000533945.1_RNA	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	371					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|cellular response to oleic acid (GO:0071400)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|diacylglycerol metabolic process (GO:0046339)|fat pad development (GO:0060613)|fatty acid homeostasis (GO:0055089)|glycerol metabolic process (GO:0006071)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)|protein homodimerization activity (GO:0042803)|retinol O-fatty-acyltransferase activity (GO:0050252)	p.D371N(1)		endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					GAAGCTCTTCGACAAGCACAA	0.587																																					p.D371N	Melanoma(35;811 1096 8354 24009 39363)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1111A	11						.	G	ASN/ASP	0,4400		0,0,2200	110.0	87.0	95.0		1111	3.6	1.0	11		95	1,8585	1.2+/-3.3	0,1,4292	no	missense	DGAT2	NM_032564.3	23	0,1,6492	AA,AG,GG		0.0116,0.0,0.0077	benign	371/389	75511497	1,12985	2200	4293	6493	75189145	SO:0001583	missense	84649	exon8				CCDS31642.1, CCDS58162.1	11q13.3	2010-06-24	2010-06-24		ENSG00000062282	ENSG00000062282			16940	protein-coding gene	gene with protein product		606983	"""diacylglycerol O-acyltransferase homolog 2 (mouse)"""			11481335, 14970677	Standard	NM_032564		Approved		uc001oxa.3	Q96PD7	OTTHUMG00000165338	ENST00000228027.7:c.1111G>A	11.37:g.75511497G>A	ENSP00000228027:p.Asp371Asn	Somatic		Capture	SOLID	Phase_I	75189145	NM_032564	A6ND76|Q5U810|Q68CL3|Q68DJ0|Q8NDB7|Q96BS0|Q9BYE5	Missense_Mutation	SNP	ENST00000228027.7	37	CCDS31642.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099447	0.56183	0.0	1.16E-4	ENSG00000062282	ENST00000228027;ENST00000376262	T;T	0.16073	2.37;2.37	5.55	3.56	0.40772	.	0.133773	0.64402	N	0.000003	T	0.15739	0.0379	L	0.49350	1.555	0.80722	D	1	B;B	0.14438	0.01;0.009	B;B	0.13407	0.009;0.007	T	0.04178	-1.0971	10	0.37606	T	0.19	-39.0239	9.6799	0.40063	0.0786:0.1421:0.7794:0.0	.	328;371	Q96PD7-2;Q96PD7	.;DGAT2_HUMAN	N	371;328	ENSP00000228027:D371N;ENSP00000365438:D328N	ENSP00000228027:D371N	D	+	1	0	DGAT2	75189145	1.000000	0.71417	0.994000	0.49952	0.893000	0.52053	2.637000	0.46553	1.348000	0.45733	0.655000	0.94253	GAC		0.587	DGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383506.1	NM_032564	
PRCP	5547	hgsc.bcm.edu	37	11	82560211	82560211	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:82560211T>G	ENST00000313010.3	-	6	995	c.801A>C	c.(799-801)ttA>ttC	p.L267F	PRCP_ENST00000535099.1_Missense_Mutation_p.L162F|PRCP_ENST00000393399.2_Missense_Mutation_p.L288F	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	267	SKS domain.				angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)	p.L267F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CCTGAGAAGTTAATGGGCTGC	0.443																																					p.L267F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A801C	11						.						115.0	108.0	111.0					11																	82560211		2203	4300	6503	82237859	SO:0001583	missense	5547	exon6			BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.801A>C	11.37:g.82560211T>G	ENSP00000317362:p.Leu267Phe	Somatic		Capture	SOLID	Phase_I	82237859	NM_005040	A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	ENST00000313010.3	37	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	T	12.42	1.933515	0.34096	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099;ENST00000531801;ENST00000534631;ENST00000527444	T;T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43;2.43	5.06	-0.0904	0.13665	.	0.000000	0.64402	D	0.000001	T	0.35624	0.0938	M	0.80332	2.49	0.38043	D	0.935518	P;D	0.55172	0.938;0.97	P;P	0.62740	0.693;0.906	T	0.26985	-1.0087	9	.	.	.	-14.7863	10.4054	0.44254	0.0:0.4878:0.0:0.5122	.	267;288	P42785;A8MU24	PCP_HUMAN;.	F	267;288;162;162;162;162	ENSP00000317362:L267F;ENSP00000377055:L288F;ENSP00000442077:L162F;ENSP00000432004:L162F;ENSP00000431559:L162F;ENSP00000436141:L162F	.	L	-	3	2	PRCP	82237859	0.006000	0.16342	0.009000	0.14445	0.040000	0.13550	-1.213000	0.02991	0.014000	0.14944	-0.256000	0.11100	TTA		0.443	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040	
SYTL2	54843	hgsc.bcm.edu	37	11	85436831	85436831	+	Intron	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:85436831G>A	ENST00000528231.1	-	7	1737				SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Silent_p.I223I|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000359152.5_Silent_p.I747I|SYTL2_ENST00000525423.1_Silent_p.I223I|SYTL2_ENST00000527523.1_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.I223I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GCTCATTAATGATCTTCTCAG	0.393																																					p.I223I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C669T	11						.						152.0	140.0	144.0					11																	85436831		2203	4299	6502	85114479	SO:0001627	intron_variant	54843	exon1			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+2107C>T	11.37:g.85436831G>A		Somatic		Capture	SOLID	Phase_I	85114479	NM_206928	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	CCDS53688.1																																																																																				0.393	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927	
NAALAD2	10003	hgsc.bcm.edu	37	11	89880541	89880541	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:89880541T>G	ENST00000534061.1	+	3	468	c.238T>G	c.(238-240)Ttc>Gtc	p.F80V	NAALAD2_ENST00000321955.4_Missense_Mutation_p.F80V|NAALAD2_ENST00000525171.1_Missense_Mutation_p.F80V|NAALAD2_ENST00000375944.3_Missense_Mutation_p.F80V	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	80					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)	p.F80V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AGAACAAAATTTCTTGCTTGC	0.383																																					p.F80V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T238G	11						.						73.0	73.0	73.0					11																	89880541		2201	4299	6500	89520189	SO:0001583	missense	10003	exon3			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.238T>G	11.37:g.89880541T>G	ENSP00000432481:p.Phe80Val	Somatic		Capture	SOLID	Phase_I	89520189	NM_005467	B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	T	9.659	1.143584	0.21205	.	.	ENSG00000077616	ENST00000525497;ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944;ENST00000526637	T;T;T;T;T;T	0.45276	0.9;1.15;1.15;1.15;1.15;1.15	5.13	4.0	0.46444	.	0.398475	0.22328	N	0.061506	T	0.33614	0.0869	L	0.42245	1.32	0.26877	N	0.967622	B;B;B;B;B	0.29341	0.001;0.0;0.0;0.242;0.003	B;B;B;B;B	0.31686	0.008;0.005;0.006;0.134;0.011	T	0.18555	-1.0333	9	.	.	.	-6.0442	9.05	0.36369	0.0:0.205:0.0:0.795	.	80;80;80;80;80	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	V	80;80;80;80;80;26	ENSP00000431989:F80V;ENSP00000432481:F80V;ENSP00000320083:F80V;ENSP00000435249:F80V;ENSP00000365111:F80V;ENSP00000435670:F26V	.	F	+	1	0	NAALAD2	89520189	1.000000	0.71417	0.920000	0.36463	0.650000	0.38633	1.819000	0.39022	0.902000	0.36520	0.524000	0.50904	TTC		0.383	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467	
NAALAD2	10003	hgsc.bcm.edu	37	11	89911264	89911264	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:89911264A>G	ENST00000534061.1	+	16	2067	c.1837A>G	c.(1837-1839)Aca>Gca	p.T613A	NAALAD2_ENST00000321955.4_Missense_Mutation_p.T580A|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	613					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)	p.T613A(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TCAACAATTGACAGACCATGG	0.303																																					p.T613A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1837G	11						.						87.0	93.0	91.0					11																	89911264		2201	4295	6496	89550912	SO:0001583	missense	10003	exon16			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1837A>G	11.37:g.89911264A>G	ENSP00000432481:p.Thr613Ala	Somatic		Capture	SOLID	Phase_I	89550912	NM_005467	B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	A	1.768	-0.485190	0.04352	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	T;T	0.27557	1.66;1.66	5.63	4.48	0.54585	Transferrin receptor-like, dimerisation domain (2);	0.442245	0.24828	N	0.035264	T	0.13243	0.0321	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24048	-1.0171	9	.	.	.	-7.0559	5.4853	0.16747	0.7068:0.1501:0.143:0.0	.	613	Q9Y3Q0	NALD2_HUMAN	A	613;580	ENSP00000432481:T613A;ENSP00000320083:T580A	.	T	+	1	0	NAALAD2	89550912	0.037000	0.19845	0.002000	0.10522	0.845000	0.48019	0.380000	0.20602	0.940000	0.37473	0.524000	0.50904	ACA		0.303	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467	
SLC36A4	120103	hgsc.bcm.edu	37	11	92917613	92917613	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:92917613T>G	ENST00000326402.4	-	3	383	c.253A>C	c.(253-255)Aaa>Caa	p.K85Q	SLC36A4_ENST00000529184.1_5'UTR	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	85					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.K85Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CCTGCATTTTTTATTGCCAAT	0.343																																					p.K85Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A253C	11						.						191.0	202.0	198.0					11																	92917613		2201	4298	6499	92557261	SO:0001583	missense	120103	exon3			AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"""Solute carriers"""	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.253A>C	11.37:g.92917613T>G	ENSP00000317382:p.Lys85Gln	Somatic		Capture	SOLID	Phase_I	92557261	NM_152313	Q86X30|Q8IVM5|Q8N8S6	Missense_Mutation	SNP	ENST00000326402.4	37	CCDS8291.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.392692	0.83011	.	.	ENSG00000180773	ENST00000326402	T	0.03124	4.04	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.25791	0.0628	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.06180	-1.0841	10	0.72032	D	0.01	-17.0971	16.286	0.82722	0.0:0.0:0.0:1.0	.	85	Q6YBV0	S36A4_HUMAN	Q	85	ENSP00000317382:K85Q	ENSP00000317382:K85Q	K	-	1	0	SLC36A4	92557261	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.303000	0.72794	2.323000	0.78572	0.528000	0.53228	AAA		0.343	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2		
CCDC82	79780	hgsc.bcm.edu	37	11	96106628	96106628	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:96106628G>T	ENST00000278520.5	-	5	1423	c.995C>A	c.(994-996)tCt>tAt	p.S332Y	CCDC82_ENST00000423339.2_Missense_Mutation_p.S332Y|CCDC82_ENST00000542662.1_Missense_Mutation_p.S332Y			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	332								p.S332Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		GTCACTAAAAGAATCTGAAAT	0.294																																					p.S332Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C995A	11						.						39.0	45.0	43.0					11																	96106628		2196	4278	6474	95746276	SO:0001583	missense	79780	exon6			AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.995C>A	11.37:g.96106628G>T	ENSP00000278520:p.Ser332Tyr	Somatic		Capture	SOLID	Phase_I	95746276	NM_024725	B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538944	0.65085	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339	T;T;T	0.49432	0.78;0.78;0.78	6.05	5.14	0.70334	.	0.295147	0.33875	N	0.004463	T	0.61400	0.2344	L	0.54323	1.7	0.37094	D	0.899569	D	0.76494	0.999	D	0.75484	0.986	T	0.68349	-0.5432	10	0.59425	D	0.04	-2.856	10.5026	0.44815	0.1496:0.0:0.8504:0.0	.	332	Q8N4S0	CCD82_HUMAN	Y	332	ENSP00000278520:S332Y;ENSP00000444010:S332Y;ENSP00000397156:S332Y	ENSP00000278520:S332Y	S	-	2	0	CCDC82	95746276	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.158000	0.50723	1.579000	0.49836	0.650000	0.86243	TCT		0.294	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725	
NTM	50863	hgsc.bcm.edu	37	11	132177606	132177606	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr11:132177606G>A	ENST00000374786.1	+	4	1029	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	NTM_ENST00000425719.2_Missense_Mutation_p.E184K|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000427481.2_Missense_Mutation_p.E175K|NTM_ENST00000374784.1_Missense_Mutation_p.E184K|NTM_ENST00000374791.3_Missense_Mutation_p.E184K|NTM_ENST00000539799.1_Missense_Mutation_p.E184K	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	184	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.E184K(2)|p.E184*(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GAGTGAAGACGAATACTTGGA	0.493																																					p.E184K												.	.	4	Substitution - Nonsense(2)|Substitution - Missense(2)	large_intestine(2)|lung(2)	c.G550A	11						.						100.0	93.0	95.0					11																	132177606		2201	4297	6498	131682816	SO:0001583	missense	50863	exon5			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.550G>A	11.37:g.132177606G>A	ENSP00000363918:p.Glu184Lys	Somatic		Capture	SOLID	Phase_I	131682816	NM_001048209	A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715177	0.89112	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.35421	1.66;1.66;1.31;1.66;1.66;1.66;1.66	5.62	5.62	0.85841	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.090416	0.85682	D	0.000000	T	0.55689	0.1936	L	0.48935	1.535	0.49213	D	0.999764	D;D;D;D;D;D	0.89917	0.998;1.0;0.997;1.0;0.997;0.997	D;D;P;D;P;P	0.71184	0.954;0.972;0.897;0.972;0.897;0.897	T	0.52419	-0.8578	10	0.56958	D	0.05	-23.1021	20.0185	0.97487	0.0:0.0:1.0:0.0	.	184;175;184;184;184;184	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	K	184;184;175;175;184;184;184	ENSP00000363923:E184K;ENSP00000437668:E184K;ENSP00000448104:E175K;ENSP00000416320:E175K;ENSP00000363918:E184K;ENSP00000396722:E184K;ENSP00000363916:E184K	ENSP00000363916:E184K	E	+	1	0	NTM	131682816	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.180000	0.71981	2.809000	0.96659	0.467000	0.42956	GAA		0.493	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522	
MYH8	4626	hgsc.bcm.edu	37	17	10304474	10304474	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:10304474C>T	ENST00000403437.2	-	25	3237	c.3143G>A	c.(3142-3144)cGa>cAa	p.R1048Q	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1048					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.R1048Q(3)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TAGATCCATTCGAAGCTTCTT	0.348									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																												p.R1048Q												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G3143A	17						.						117.0	103.0	108.0					17																	10304474		2203	4300	6503	10245199	SO:0001583	missense	4626	exon25	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3143G>A	17.37:g.10304474C>T	ENSP00000384330:p.Arg1048Gln	Somatic		Capture	SOLID	Phase_I	10245199	NM_002472	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987772	0.93106	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.95756	-3.8	5.48	5.48	0.80851	.	0.000000	0.38381	U	0.001703	D	0.98356	0.9454	H	0.97918	4.105	0.58432	D	0.999998	D	0.53885	0.963	P	0.54401	0.751	D	0.99357	1.0916	10	0.87932	D	0	.	19.5559	0.95347	0.0:1.0:0.0:0.0	.	1048	P13535	MYH8_HUMAN	Q	1048	ENSP00000384330:R1048Q	ENSP00000252173:R1048Q	R	-	2	0	MYH8	10245199	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	7.447000	0.80620	2.861000	0.98227	0.650000	0.86243	CGA		0.348	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
MYH4	4622	hgsc.bcm.edu	37	17	10363546	10363546	+	Missense_Mutation	SNP	C	C	T	rs373683531		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:10363546C>T	ENST00000255381.2	-	13	1350	c.1240G>A	c.(1240-1242)Gta>Ata	p.V414I	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	414	Myosin motor.				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.V414I(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						CCTTTGGTTACGAACTCATTG	0.433																																					p.V414I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1240A	17						.	C	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	121.0	110.0	114.0		1240	5.6	1.0	17		114	0,8600		0,0,4300	no	missense	MYH4	NM_017533.2	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	414/1940	10363546	2,13004	2203	4300	6503	10304271	SO:0001583	missense	4622	exon13				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.1240G>A	17.37:g.10363546C>T	ENSP00000255381:p.Val414Ile	Somatic		Capture	SOLID	Phase_I	10304271	NM_017533		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619478	0.87460	4.54E-4	0.0	ENSG00000141048	ENST00000255381	D	0.88896	-2.44	5.56	5.56	0.83823	Myosin head, motor domain (2);	0.000000	0.33813	U	0.004536	D	0.92996	0.7771	L	0.48174	1.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93010	0.6431	10	0.66056	D	0.02	.	19.8925	0.96935	0.0:1.0:0.0:0.0	.	414	Q9Y623	MYH4_HUMAN	I	414	ENSP00000255381:V414I	ENSP00000255381:V414I	V	-	1	0	MYH4	10304271	1.000000	0.71417	0.966000	0.40874	0.474000	0.32979	7.766000	0.85320	2.787000	0.95880	0.650000	0.86243	GTA		0.433	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	
MYH2	4620	hgsc.bcm.edu	37	17	10446245	10446245	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:10446245C>A	ENST00000245503.5	-	10	1235	c.851G>T	c.(850-852)aGa>aTa	p.R284I	MYH2_ENST00000532183.2_Missense_Mutation_p.R284I|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R284I	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	284	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R284I(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATGATAACTTCTCTCAGCCTT	0.328																																					p.R284I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G851T	17						.						54.0	55.0	55.0					17																	10446245		2202	4295	6497	10386970	SO:0001583	missense	4620	exon10				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.851G>T	17.37:g.10446245C>A	ENSP00000245503:p.Arg284Ile	Somatic		Capture	SOLID	Phase_I	10386970	NM_001100112	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	31	5.091770	0.94149	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	D;D;D	0.94092	-3.35;-3.35;-3.35	4.89	4.89	0.63831	Myosin head, motor domain (2);	0.000000	0.42964	U	0.000639	D	0.98692	0.9561	H	0.99978	5.175	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.97110	0.997;1.0	D	0.99023	1.0818	10	0.87932	D	0	.	17.2283	0.86977	0.0:1.0:0.0:0.0	.	284;284	Q567P6;Q9UKX2	.;MYH2_HUMAN	I	284	ENSP00000433944:R284I;ENSP00000245503:R284I;ENSP00000380367:R284I	ENSP00000245503:R284I	R	-	2	0	MYH2	10386970	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.651000	0.83577	2.551000	0.86045	0.650000	0.86243	AGA		0.328	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
MYH3	4621	hgsc.bcm.edu	37	17	10539141	10539141	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:10539141C>A	ENST00000583535.1	-	29	3973	c.3886G>T	c.(3886-3888)Gaa>Taa	p.E1296*	MYH3_ENST00000226209.7_Nonsense_Mutation_p.E1296*	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1296					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.E1296*(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						ACTATGCTTTCTTTTTCTTCC	0.433																																					p.E1296X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3886T	17						.						179.0	176.0	177.0					17																	10539141		2203	4300	6503	10479866	SO:0001587	stop_gained	4621	exon28				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.3886G>T	17.37:g.10539141C>A	ENSP00000464317:p.Glu1296*	Somatic		Capture	SOLID	Phase_I	10479866	NM_002470	Q15492	Nonsense_Mutation	SNP	ENST00000583535.1	37	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	44	10.599577	0.99435	.	.	ENSG00000109063	ENST00000226209	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0961	0.97843	0.0:1.0:0.0:0.0	.	.	.	.	X	1296	.	ENSP00000226209:E1296X	E	-	1	0	MYH3	10479866	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.814000	0.86154	2.813000	0.96785	0.655000	0.94253	GAA		0.433	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470	
DNAH9	1770	hgsc.bcm.edu	37	17	11556211	11556211	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:11556211A>T	ENST00000262442.4	+	14	2555	c.2487A>T	c.(2485-2487)aaA>aaT	p.K829N	DNAH9_ENST00000454412.2_Missense_Mutation_p.K829N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	829	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.K829N(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTAAGACAAAAGATGGAAAAA	0.373																																					p.K829N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2487T	17						.						128.0	126.0	127.0					17																	11556211		2203	4300	6503	11496936	SO:0001583	missense	1770	exon14			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2487A>T	17.37:g.11556211A>T	ENSP00000262442:p.Lys829Asn	Somatic		Capture	SOLID	Phase_I	11496936	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.335856	0.60853	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.27720	1.69;1.65	5.27	1.55	0.23275	.	0.112791	0.64402	N	0.000016	T	0.55465	0.1922	M	0.88906	2.99	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	T	0.55127	-0.8189	10	0.48119	T	0.1	.	9.7822	0.40656	0.7021:0.0:0.2979:0.0	.	829	Q9NYC9	DYH9_HUMAN	N	829	ENSP00000262442:K829N;ENSP00000414874:K829N	ENSP00000262442:K829N	K	+	3	2	DNAH9	11496936	1.000000	0.71417	0.999000	0.59377	0.821000	0.46438	1.272000	0.33109	0.036000	0.15547	-0.263000	0.10527	AAA		0.373	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
ZNF18	7566	hgsc.bcm.edu	37	17	11881557	11881557	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:11881557C>A	ENST00000322748.3	-	9	1971	c.1367G>T	c.(1366-1368)aGa>aTa	p.R456I	ZNF18_ENST00000454073.3_Missense_Mutation_p.R455I|RP11-1096G20.5_ENST00000580270.1_RNA|ZNF18_ENST00000580306.2_Missense_Mutation_p.R456I	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	456					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.R456I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		CGTGTGAGTTCTCTGATGCTT	0.463																																					p.R456I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1367T	17						.						65.0	68.0	67.0					17																	11881557		2203	4300	6503	11822282	SO:0001583	missense	7566	exon9			X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12969	protein-coding gene	gene with protein product		194524	"""zinc finger protein 18 (KOX 11)"""			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.1367G>T	17.37:g.11881557C>A	ENSP00000315664:p.Arg456Ile	Somatic		Capture	SOLID	Phase_I	11822282	NM_144680	Q5QHQ3|Q8IYC4|Q8NAH6	Missense_Mutation	SNP	ENST00000322748.3	37	CCDS32568.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354974	0.41700	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	T	0.24908	1.83	5.62	5.62	0.85841	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000023	T	0.48021	0.1477	L	0.55743	1.74	0.44890	D	0.997907	D;D	0.89917	1.0;1.0	D;D	0.76071	0.977;0.987	T	0.41998	-0.9477	10	0.87932	D	0	-18.3964	17.1654	0.86814	0.0:1.0:0.0:0.0	.	455;456	P17022-2;P17022	.;ZNF18_HUMAN	I	456	ENSP00000315664:R456I	ENSP00000315664:R456I	R	-	2	0	ZNF18	11822282	0.140000	0.22579	0.999000	0.59377	0.997000	0.91878	1.967000	0.40491	2.654000	0.90174	0.557000	0.71058	AGA		0.463	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441450.2	XM_085596	
NCOR1	9611	hgsc.bcm.edu	37	17	16012219	16012219	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:16012219C>T	ENST00000268712.3	-	19	2320	c.2063G>A	c.(2062-2064)cGa>cAa	p.R688Q	NCOR1_ENST00000395851.1_Missense_Mutation_p.R688Q|NCOR1_ENST00000395848.1_Missense_Mutation_p.R579Q|NCOR1_ENST00000583226.1_5'UTR	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	688					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.R688Q(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACGAGGTTTTCGTGAAGTCTA	0.348																																					p.R688Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2063A	17						.						88.0	84.0	85.0					17																	16012219		2203	4300	6503	15952944	SO:0001583	missense	9611	exon18			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.2063G>A	17.37:g.16012219C>T	ENSP00000268712:p.Arg688Gln	Somatic		Capture	SOLID	Phase_I	15952944	NM_001190440	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	32	5.125682	0.94429	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395848	T;T;T;T	0.54279	0.94;0.94;0.58;0.94	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.65575	0.2704	L	0.47716	1.5	0.80722	D	1	D;D;D	0.89917	1.0;0.992;0.999	P;P;P	0.62649	0.862;0.777;0.905	T	0.67341	-0.5695	10	0.62326	D	0.03	-7.1728	17.9624	0.89090	0.0:1.0:0.0:0.0	.	579;688;688	E9PGV6;O75376;O75376-2	.;NCOR1_HUMAN;.	Q	688;688;579;579	ENSP00000268712:R688Q;ENSP00000379192:R688Q;ENSP00000379190:R579Q;ENSP00000379189:R579Q	ENSP00000268712:R688Q	R	-	2	0	NCOR1	15952944	1.000000	0.71417	0.996000	0.52242	0.907000	0.53573	5.641000	0.67881	2.489000	0.83994	0.591000	0.81541	CGA		0.348	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311	
ZNF287	57336	hgsc.bcm.edu	37	17	16455534	16455534	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:16455534A>C	ENST00000395824.1	-	6	2539	c.1922T>G	c.(1921-1923)aTt>aGt	p.I641S	ZNF287_ENST00000395825.3_Missense_Mutation_p.I641S			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	634					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|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.I634S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TCCATTATGAATCCTCTGATG	0.388																																					p.I641S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1922G	17						.						97.0	89.0	91.0					17																	16455534		2203	4300	6503	16396259	SO:0001583	missense	57336	exon6			AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1922T>G	17.37:g.16455534A>C	ENSP00000379168:p.Ile641Ser	Somatic		Capture	SOLID	Phase_I	16396259	NM_020653	Q6IAG1	Missense_Mutation	SNP	ENST00000395824.1	37	CCDS11179.2	.	.	.	.	.	.	.	.	.	.	A	12.16	1.854342	0.32791	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.08984	3.03;3.03	5.03	3.95	0.45737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000090	T	0.07773	0.0195	L	0.35854	1.095	0.35587	D	0.806743	B	0.34103	0.437	B	0.33799	0.17	T	0.20273	-1.0280	10	0.87932	D	0	.	9.251	0.37555	0.914:0.0:0.086:0.0	.	634	Q9HBT7	ZN287_HUMAN	S	641	ENSP00000379169:I641S;ENSP00000379168:I641S	ENSP00000379168:I641S	I	-	2	0	ZNF287	16396259	0.002000	0.14202	1.000000	0.80357	0.998000	0.95712	1.029000	0.30140	1.041000	0.40125	0.454000	0.30748	ATT		0.388	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1		
PHF12	57649	hgsc.bcm.edu	37	17	27248744	27248744	+	Silent	SNP	G	G	A	rs148610349		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:27248744G>A	ENST00000332830.4	-	5	1608	c.798C>T	c.(796-798)ctC>ctT	p.L266L	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Silent_p.L266L|PHF12_ENST00000577226.1_Silent_p.L266L	NM_001033561.1	NP_001028733.1			PHD finger protein 12									p.L266L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GTAAGGGAACGAGACCATTGT	0.388																																					p.L266L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C798T	17						.	G	,	1,4405	2.1+/-5.4	0,1,2202	277.0	238.0	251.0		798,798	-10.6	0.8	17	dbSNP_134	251	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PHF12	NM_001033561.1,NM_020889.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	266/1005,266/705	27248744	1,13005	2203	4300	6503	24272870	SO:0001819	synonymous_variant	57649	exon5			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.798C>T	17.37:g.27248744G>A		Somatic		Capture	SOLID	Phase_I	24272870	NM_020889		Silent	SNP	ENST00000332830.4	37	CCDS32598.1																																																																																				0.388	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889	
PIPOX	51268	hgsc.bcm.edu	37	17	27380440	27380440	+	Nonsense_Mutation	SNP	C	C	T	rs139479328		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:27380440C>T	ENST00000323372.4	+	4	813	c.487C>T	c.(487-489)Cga>Tga	p.R163*	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	163					L-lysine catabolic process to acetyl-CoA via L-pipecolate (GO:0033514)|oxidation-reduction process (GO:0055114)|tetrahydrofolate metabolic process (GO:0046653)	peroxisome (GO:0005777)	L-pipecolate oxidase activity (GO:0050031)|receptor binding (GO:0005102)|sarcosine oxidase activity (GO:0008115)	p.R163*(1)		endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	GGATGCAATTCGACAGCTAGG	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		22755	0.0		0.0	False		,,,				2504	0.001				p.R163X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C487T	17						.	C	stop/ARG	1,4405	4.2+/-10.8	0,1,2202	121.0	105.0	110.0		487	1.3	0.2	17	dbSNP_134	110	0,8600		0,0,4300	no	stop-gained	PIPOX	NM_016518.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		163/391	27380440	1,13005	2203	4300	6503	24404566	SO:0001587	stop_gained	51268	exon4			AF134593	CCDS11248.1	17p13.2	2008-07-18			ENSG00000179761	ENSG00000179761			17804	protein-coding gene	gene with protein product	"""L-pipecolic acid oxidase"""					10772957, 10642506	Standard	NM_016518		Approved	LPIPOX	uc002hdr.1	Q9P0Z9	OTTHUMG00000132679	ENST00000323372.4:c.487C>T	17.37:g.27380440C>T	ENSP00000317721:p.Arg163*	Somatic		Capture	SOLID	Phase_I	24404566	NM_016518	B3KNH0|Q96H28|Q9C070	Nonsense_Mutation	SNP	ENST00000323372.4	37	CCDS11248.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361577	0.61403	2.27E-4	0.0	ENSG00000179761	ENST00000323372;ENST00000419875	.	.	.	6.07	1.33	0.21861	.	0.496565	0.23773	N	0.044712	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-35.7033	5.3664	0.16115	0.1242:0.6234:0.1096:0.1429	.	.	.	.	X	163;94	.	ENSP00000317721:R163X	R	+	1	2	PIPOX	24404566	0.086000	0.21541	0.166000	0.22797	0.013000	0.08279	0.319000	0.19522	0.433000	0.26313	-0.150000	0.13652	CGA		0.522	PIPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255954.1	NM_016518	
TAOK1	57551	hgsc.bcm.edu	37	17	27805343	27805343	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:27805343C>T	ENST00000261716.3	+	6	946	c.427C>T	c.(427-429)Cat>Tat	p.H143Y	TAOK1_ENST00000536202.1_Missense_Mutation_p.H143Y	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	143	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)	p.H143Y(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			AGCCTACTTACATTCTCATAC	0.289																																					p.H143Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C427T	17						.						101.0	107.0	105.0					17																	27805343		2203	4291	6494	24829469	SO:0001583	missense	57551	exon6			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.427C>T	17.37:g.27805343C>T	ENSP00000261716:p.His143Tyr	Somatic		Capture	SOLID	Phase_I	24829469	NM_025142	A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805829	0.90623	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	D;D	0.83755	-1.76;-1.76	5.83	5.83	0.93111	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94512	0.8233	H	0.98199	4.17	0.80722	D	1	D;P	0.61697	0.99;0.577	P;B	0.61533	0.89;0.265	D	0.95947	0.8951	10	0.87932	D	0	.	20.1162	0.97934	0.0:1.0:0.0:0.0	.	143;143	B7ZLV6;Q7L7X3	.;TAOK1_HUMAN	Y	143	ENSP00000261716:H143Y;ENSP00000438819:H143Y	ENSP00000261716:H143Y	H	+	1	0	TAOK1	24829469	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.757000	0.94681	0.563000	0.77884	CAT		0.289	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791	
ATAD5	79915	hgsc.bcm.edu	37	17	29220686	29220686	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:29220686A>C	ENST00000321990.4	+	21	5193	c.4815A>C	c.(4813-4815)aaA>aaC	p.K1605N		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1605					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.K1605N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAGAAAGCAAAACCGGAGACG	0.383																																					p.K1605N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4815C	17						.						54.0	61.0	59.0					17																	29220686		2203	4299	6502	26244812	SO:0001583	missense	79915	exon21				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.4815A>C	17.37:g.29220686A>C	ENSP00000313171:p.Lys1605Asn	Somatic		Capture	SOLID	Phase_I	26244812	NM_024857	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	A	9.718	1.158979	0.21454	.	.	ENSG00000176208	ENST00000321990	T	0.05786	3.39	0.0465	0.0465	0.14256	.	3.874150	0.00166	N	0.000008	T	0.09158	0.0226	L	0.44542	1.39	0.09310	N	1	P	0.39094	0.659	B	0.42959	0.403	T	0.26710	-1.0095	9	0.38643	T	0.18	.	.	.	.	.	1605	Q96QE3	ATAD5_HUMAN	N	1605	ENSP00000313171:K1605N	ENSP00000313171:K1605N	K	+	3	2	ATAD5	26244812	0.136000	0.22515	0.286000	0.24833	0.187000	0.23431	0.164000	0.16542	0.115000	0.18071	0.113000	0.15668	AAA		0.383	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857	
NF1	4763	hgsc.bcm.edu	37	17	29546065	29546065	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:29546065G>T	ENST00000358273.4	+	14	1953	c.1570G>T	c.(1570-1572)Gaa>Taa	p.E524*	NF1_ENST00000356175.3_Nonsense_Mutation_p.E524*|NF1_ENST00000431387.4_Nonsense_Mutation_p.E524*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	524					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(5)|p.E524Q(2)|p.N510_E547del(1)|p.E524*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAGTACAGCAGAATTAATTAC	0.418			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																											p.E524X		yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	.	17	Whole gene deletion(8)|Unknown(5)|Substitution - Missense(2)|Deletion - In frame(1)|Substitution - Nonsense(1)	soft_tissue(8)|autonomic_ganglia(3)|central_nervous_system(2)|breast(2)|large_intestine(1)|lung(1)	c.G1570T	17	GRCh37	CM001254	NF1	M		.						69.0	66.0	67.0					17																	29546065		2203	4300	6503	26570191	SO:0001587	stop_gained	4763	exon14	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1570G>T	17.37:g.29546065G>T	ENSP00000351015:p.Glu524*	Somatic		Capture	SOLID	Phase_I	26570191	NM_001042492	O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.695368	0.88830	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.7165	0.96122	0.0:0.0:1.0:0.0	.	.	.	.	X	524;524;524;190	.	ENSP00000348498:E524X	E	+	1	0	NF1	26570191	1.000000	0.71417	0.904000	0.35570	0.947000	0.59692	9.138000	0.94501	2.665000	0.90641	0.585000	0.79938	GAA		0.418	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
NF1	4763	hgsc.bcm.edu	37	17	29677227	29677227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:29677227C>T	ENST00000358273.4	+	50	7731	c.7348C>T	c.(7348-7350)Cga>Tga	p.R2450*	NF1_ENST00000444181.2_Nonsense_Mutation_p.R243*|NF1_ENST00000356175.3_Nonsense_Mutation_p.R2429*|NF1_ENST00000417592.2_Nonsense_Mutation_p.R163*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2450					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.R2450*(6)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGAAGAAGTTCGAAGTCGCTG	0.363			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																											p.R2450X		yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	NF1,soft_tissue,nerve_sheath,Substitution - Nonsense,0	.	17	Whole gene deletion(8)|Substitution - Nonsense(6)|Unknown(3)	soft_tissue(10)|autonomic_ganglia(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|central_nervous_system(1)|lung(1)	c.C7348T	17	GRCh37	CD000998|CM000818	NF1	D|M		.						159.0	145.0	150.0					17																	29677227		2203	4300	6503	26701353	SO:0001587	stop_gained	4763	exon50	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7348C>T	17.37:g.29677227C>T	ENSP00000351015:p.Arg2450*	Somatic		Capture	SOLID	Phase_I	26701353	NM_001042492	O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276767	0.80580	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181;ENST00000417592	.	.	.	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.382	0.66916	0.1478:0.8522:0.0:0.0	.	.	.	.	X	2450;2429;2095;243;163	.	ENSP00000348498:R2429X	R	+	1	2	NF1	26701353	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.331000	0.43894	2.626000	0.88956	0.563000	0.77884	CGA		0.363	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
RHOT1	55288	hgsc.bcm.edu	37	17	30526526	30526526	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:30526526G>T	ENST00000333942.6	+	13	1296	c.1057G>T	c.(1057-1059)Gaa>Taa	p.E353*	RHOT1_ENST00000545287.2_Nonsense_Mutation_p.E353*|RHOT1_ENST00000581094.1_Nonsense_Mutation_p.E353*|RHOT1_ENST00000394692.2_Nonsense_Mutation_p.E353*|RHOT1_ENST00000354266.3_Nonsense_Mutation_p.E332*|RHOT1_ENST00000583994.1_Nonsense_Mutation_p.E226*|RHOT1_ENST00000358365.3_Nonsense_Mutation_p.E353*	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	353					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E353*(1)		NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				TTGTACCAATGAAAGAGGCTG	0.403																																					p.E353X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1057T	17						.						117.0	114.0	115.0					17																	30526526		2203	4300	6503	27550639	SO:0001587	stop_gained	55288	exon13			AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"""EF-hand domain containing"""	21168	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 1"""	613888	"""ras homolog gene family, member T1"""	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.1057G>T	17.37:g.30526526G>T	ENSP00000334724:p.Glu353*	Somatic		Capture	SOLID	Phase_I	27550639	NM_001033566	A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Nonsense_Mutation	SNP	ENST00000333942.6	37	CCDS32612.1	.	.	.	.	.	.	.	.	.	.	G	35	5.503605	0.96371	.	.	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942	.	.	.	5.66	5.66	0.87406	.	0.043881	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-16.6738	19.7434	0.96241	0.0:0.0:1.0:0.0	.	.	.	.	X	353	.	ENSP00000334724:E353X	E	+	1	0	RHOT1	27550639	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.844000	0.99494	2.657000	0.90304	0.591000	0.81541	GAA		0.403	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307	
CCL8	6355	hgsc.bcm.edu	37	17	32646554	32646554	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:32646554C>T	ENST00000394620.1	+	1	500	c.34C>T	c.(34-36)Ctc>Ttc	p.L12F		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	12					calcium ion transport (GO:0006816)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|exocytosis (GO:0006887)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)	p.L12F(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				GTGCCTGCTGCTCATGGCAGC	0.512																																					p.L12F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C34T	17						.						71.0	65.0	67.0					17																	32646554		2203	4300	6503	29670667	SO:0001583	missense	6355	exon1			X99886	CCDS11280.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108700	ENSG00000108700		"""Chemokine ligands"", ""Endogenous ligands"""	10635	protein-coding gene	gene with protein product		602283	"""small inducible cytokine subfamily A (Cys-Cys), member 8 (monocyte chemotactic protein 2)"""	SCYA8		9119400	Standard	NM_005623		Approved	MCP-2, HC14	uc002hib.3	P80075	OTTHUMG00000132883	ENST00000394620.1:c.34C>T	17.37:g.32646554C>T	ENSP00000378118:p.Leu12Phe	Somatic		Capture	SOLID	Phase_I	29670667	NM_005623	A0AV77|P78388	Missense_Mutation	SNP	ENST00000394620.1	37	CCDS11280.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570127	0.65765	.	.	ENSG00000108700	ENST00000394620;ENST00000225840	T	0.03358	3.96	4.58	4.58	0.56647	.	0.000000	0.35585	N	0.003114	T	0.06735	0.0172	.	.	.	0.33790	D	0.625342	P	0.47253	0.892	P	0.45474	0.482	T	0.13953	-1.0490	9	0.54805	T	0.06	.	13.2218	0.59892	0.0:1.0:0.0:0.0	.	12	P80075	CCL8_HUMAN	F	22;12	ENSP00000378118:L22F	ENSP00000225840:L12F	L	+	1	0	CCL8	29670667	0.998000	0.40836	0.977000	0.42913	0.055000	0.15305	0.773000	0.26661	2.271000	0.75665	0.655000	0.94253	CTC		0.512	CCL8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256376.2	NM_005623	
TMEM132E	124842	hgsc.bcm.edu	37	17	32959924	32959924	+	Missense_Mutation	SNP	C	C	T	rs148901847	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:32959924C>T	ENST00000321639.5	+	7	1742	c.1414C>T	c.(1414-1416)Cgg>Tgg	p.R472W		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	472						integral component of membrane (GO:0016021)		p.R472W(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCTCCCCGACCGGAGGTACAG	0.587													C|||	3	0.000599042	0.0	0.0014	5008	,	,		21502	0.0		0.002	False		,,,				2504	0.0				p.R472W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1414T	17						.	C	TRP/ARG	4,4402	8.1+/-20.4	0,4,2199	77.0	75.0	76.0		1414	-0.3	1.0	17	dbSNP_134	76	7,8593	5.7+/-21.5	0,7,4293	yes	missense	TMEM132E	NM_207313.1	101	0,11,6492	TT,TC,CC		0.0814,0.0908,0.0846	probably-damaging	472/985	32959924	11,12995	2203	4300	6503	29984037	SO:0001583	missense	124842	exon7			BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1414C>T	17.37:g.32959924C>T	ENSP00000316532:p.Arg472Trp	Somatic		Capture	SOLID	Phase_I	29984037	NM_207313	Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	CCDS11283.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	17.51	3.406590	0.62399	9.08E-4	8.14E-4	ENSG00000181291	ENST00000321639	T	0.20738	2.05	4.71	-0.276	0.12902	.	0.118078	0.33364	N	0.004990	T	0.40719	0.1128	M	0.65498	2.005	0.58432	D	0.999997	D	0.89917	1.0	D	0.76071	0.987	T	0.41106	-0.9527	10	0.87932	D	0	-26.1297	13.5022	0.61462	0.7521:0.2479:0.0:0.0	.	472	Q6IEE7	T132E_HUMAN	W	472	ENSP00000316532:R472W	ENSP00000316532:R472W	R	+	1	2	TMEM132E	29984037	0.996000	0.38824	1.000000	0.80357	0.718000	0.41266	0.503000	0.22610	0.155000	0.19261	0.551000	0.68910	CGG		0.587	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313	
MED24	9862	hgsc.bcm.edu	37	17	38209768	38209768	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:38209768C>A	ENST00000394128.2	-	2	165	c.84G>T	c.(82-84)aaG>aaT	p.K28N	MED24_ENST00000501516.3_Missense_Mutation_p.K28N|MED24_ENST00000356271.3_Missense_Mutation_p.K28N|MED24_ENST00000479829.1_5'UTR|MED24_ENST00000394127.2_Missense_Mutation_p.K28N|MED24_ENST00000394126.1_Missense_Mutation_p.K53N	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	28					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|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 cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.K28N(1)|p.K28K(1)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GAAAGAATTTCTTCATGTTGA	0.468																																					p.K28N												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|breast(1)	c.G84T	17						.						191.0	197.0	195.0					17																	38209768		2203	4300	6503	35463294	SO:0001583	missense	9862	exon2			AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.84G>T	17.37:g.38209768C>A	ENSP00000377686:p.Lys28Asn	Somatic		Capture	SOLID	Phase_I	35463294	NM_001079518	A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	ENST00000394128.2	37	CCDS11359.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298792	0.40694	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000394127;ENST00000536318;ENST00000543759;ENST00000537674;ENST00000535508;ENST00000501516;ENST00000428757	T;T;T;T;T	0.60797	0.16;0.16;0.16;0.58;0.58	5.88	4.9	0.64082	Mediator complex, subunit Med24, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72961	0.3526	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.87578	0.997;0.996;0.998;0.997	T	0.75744	-0.3210	10	0.87932	D	0	-23.0306	11.0089	0.47651	0.0:0.8474:0.0:0.1526	.	28;28;28;28	B9TX65;O75448-2;O75448;F5H0K1	.;.;MED24_HUMAN;.	N	28;28;28;28;28;2;2;2;2;28	ENSP00000348610:K28N;ENSP00000377686:K28N;ENSP00000377685:K28N;ENSP00000439148:K2N;ENSP00000440100:K2N	ENSP00000348610:K28N	K	-	3	2	MED24	35463294	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.267000	0.51577	1.458000	0.47871	0.655000	0.94253	AAG		0.468	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815	
CDC27	996	hgsc.bcm.edu	37	17	45216162	45216162	+	Missense_Mutation	SNP	A	A	C	rs111227623		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:45216162A>C	ENST00000066544.3	-	13	1740	c.1647T>G	c.(1645-1647)gaT>gaG	p.D549E	CDC27_ENST00000446365.2_Missense_Mutation_p.D488E|CDC27_ENST00000527547.1_Missense_Mutation_p.D548E|CDC27_ENST00000531206.1_Missense_Mutation_p.D555E	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	549					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.D549E(4)|p.D555E(2)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AAAGAGCAACATCTTTTTGAA	0.348																																					p.D555E												CDC27,lung,NS,Substitution - Missense,0	.	6	Substitution - Missense(6)	large_intestine(4)|ovary(1)|lung(1)	c.T1665G	17						.						46.0	51.0	49.0					17																	45216162		2202	4299	6501	42571161	SO:0001583	missense	996	exon13			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1647T>G	17.37:g.45216162A>C	ENSP00000066544:p.Asp549Glu	Somatic		Capture	SOLID	Phase_I	42571161	NM_001114091	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	6.981	0.550975	0.13374	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.65364	-0.14;-0.15;0.15;-0.12	5.57	-0.476	0.12100	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.25158	0.0611	N	0.01473	-0.845	0.48040	D	0.999577	B;B;B;B	0.27192	0.052;0.171;0.171;0.052	B;B;B;B	0.27715	0.021;0.082;0.082;0.021	T	0.36261	-0.9755	10	0.02654	T	1	-6.7614	9.4643	0.38802	0.6029:0.0:0.3971:0.0	.	488;548;555;549	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	E	549;555;488;548	ENSP00000066544:D549E;ENSP00000434614:D555E;ENSP00000392802:D488E;ENSP00000437339:D548E	ENSP00000066544:D549E	D	-	3	2	CDC27	42571161	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	1.462000	0.35266	-0.146000	0.11274	-0.256000	0.11100	GAT		0.348	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
VPS53	55275	hgsc.bcm.edu	37	17	559187	559187	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:559187C>A	ENST00000571805.1	-	6	515	c.379G>T	c.(379-381)Gaa>Taa	p.E127*	VPS53_ENST00000574029.1_Intron|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000576149.1_Intron|VPS53_ENST00000291074.5_Nonsense_Mutation_p.E98*|VPS53_ENST00000437048.2_Nonsense_Mutation_p.E127*			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	127					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)		p.E98*(1)		breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		CGGGTGATTTCTTTCACCTAA	0.443																																					p.E127X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G379T	17						.						168.0	139.0	149.0					17																	559187		2203	4300	6503	505937	SO:0001587	stop_gained	55275	exon6				CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.379G>T	17.37:g.559187C>A	ENSP00000459312:p.Glu127*	Somatic		Capture	SOLID	Phase_I	505937	NM_001128159	A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Nonsense_Mutation	SNP	ENST00000571805.1	37		.	.	.	.	.	.	.	.	.	.	C	37	6.466277	0.97590	.	.	ENSG00000141252	ENST00000437048;ENST00000291074;ENST00000389040	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.1218	17.463	0.87624	0.0:1.0:0.0:0.0	.	.	.	.	X	127;98;127	.	ENSP00000291074:E98X	E	-	1	0	VPS53	505937	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.255000	0.78338	2.459000	0.83118	0.557000	0.71058	GAA		0.443	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289	
SLC52A1	55065	hgsc.bcm.edu	37	17	4936279	4936279	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:4936279C>A	ENST00000424747.1	-	5	2032	c.1320G>T	c.(1318-1320)aaG>aaT	p.K440N	SLC52A1_ENST00000254853.5_Missense_Mutation_p.K440N|SLC52A1_ENST00000512825.2_3'UTR	NM_001104577.1	NP_001098047.1	Q9NWF4	S52A1_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	440					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)	p.K440N(1)									CTACACAGTCCTTTCTGCTTT	0.607																																					p.K440N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1320T	17						.						68.0	71.0	70.0					17																	4936279		2203	4300	6503	4877003	SO:0001583	missense	55065	exon5			AY070775	CCDS11066.1	17p13.3	2013-07-17	2013-07-17	2012-02-29	ENSG00000132517	ENSG00000132517		"""Solute carriers"""	30225	protein-coding gene	gene with protein product	"""riboflavin transporter 1"""	607883	"""G protein-coupled receptor 172B"""	GPR172B		12740431, 18632736	Standard	NM_001104577		Approved	FLJ10060, GPCR42, PAR2, hRFT1, RFVT1	uc002gao.4	Q9NWF4	OTTHUMG00000099448	ENST00000424747.1:c.1320G>T	17.37:g.4936279C>A	ENSP00000399979:p.Lys440Asn	Somatic		Capture	SOLID	Phase_I	4877003	NM_001104577	B5MEV1|B5MEV2|Q6P9E0|Q86UT0	Missense_Mutation	SNP	ENST00000424747.1	37	CCDS11066.1	.	.	.	.	.	.	.	.	.	.	C	5.871	0.344924	0.11126	.	.	ENSG00000132517	ENST00000254853;ENST00000424747	T;T	0.74947	-0.89;-0.89	0.913	-0.127	0.13510	.	0.630539	0.16575	N	0.208448	T	0.57110	0.2031	L	0.40543	1.245	0.22521	N	0.999026	B	0.28128	0.201	B	0.27608	0.081	T	0.46456	-0.9190	10	0.44086	T	0.13	.	1.7587	0.02987	0.3256:0.4292:0.0:0.2452	.	440	Q9NWF4	RFT_HUMAN	N	440	ENSP00000254853:K440N;ENSP00000399979:K440N	ENSP00000254853:K440N	K	-	3	2	GPR172B	4877003	0.981000	0.34729	0.076000	0.20297	0.199000	0.23934	0.037000	0.13840	-0.034000	0.13713	-0.140000	0.14226	AAG		0.607	SLC52A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216913.1	NM_017986	
ZFP3	124961	hgsc.bcm.edu	37	17	4995617	4995617	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:4995617G>T	ENST00000318833.3	+	2	1154	c.818G>T	c.(817-819)aGa>aTa	p.R273I		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	273					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.R273I(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						CAGCATCAGAGAATTCATACT	0.393																																					p.R273I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G818T	17						.						60.0	59.0	59.0					17																	4995617		2203	4300	6503	4936341	SO:0001583	missense	124961	exon2			BX647638	CCDS11067.1	17p13.2	2013-01-08	2012-11-27		ENSG00000180787	ENSG00000180787		"""Zinc fingers, C2H2-type"""	12861	protein-coding gene	gene with protein product		194480	"""zinc finger protein homologous to Zfp-3 in mouse"", ""zinc finger protein 3 homolog (mouse)"""				Standard	NM_153018		Approved	FLJ30726, ZNF752	uc002gaq.3	Q96NJ6		ENST00000318833.3:c.818G>T	17.37:g.4995617G>T	ENSP00000320347:p.Arg273Ile	Somatic		Capture	SOLID	Phase_I	4936341	NM_153018	A5PLL4	Missense_Mutation	SNP	ENST00000318833.3	37	CCDS11067.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538388	0.65085	.	.	ENSG00000180787	ENST00000318833	T	0.24908	1.83	3.93	3.93	0.45458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39759	N	0.001264	T	0.47469	0.1447	M	0.72479	2.2	0.50171	D	0.999856	D	0.64830	0.994	D	0.65773	0.938	T	0.50575	-0.8812	10	0.66056	D	0.02	-15.1146	14.2605	0.66083	0.0:0.0:1.0:0.0	.	273	Q96NJ6	ZFP3_HUMAN	I	273	ENSP00000320347:R273I	ENSP00000320347:R273I	R	+	2	0	ZFP3	4936341	0.733000	0.28132	1.000000	0.80357	0.998000	0.95712	2.584000	0.46102	2.485000	0.83878	0.563000	0.77884	AGA		0.393	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438979.1	NM_153018	
SP2	6668	hgsc.bcm.edu	37	17	46002744	46002744	+	Silent	SNP	G	G	T	rs1130932	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:46002744G>T	ENST00000376741.4	+	6	1715	c.1578G>T	c.(1576-1578)gtG>gtT	p.V526V	AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	526					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)	p.V526V(1)		endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						AGAAGCACGTGTGCCACATCC	0.592													G|||	2518	0.502796	0.3805	0.4697	5008	,	,		22979	0.7708		0.4583	False		,,,				2504	0.4611				p.V526V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1578T	17						.	G		1758,2648	521.1+/-370.4	355,1048,800	122.0	106.0	112.0		1578	5.0	1.0	17	dbSNP_86	112	3721,4879	530.3+/-381.8	807,2107,1386	no	coding-synonymous	SP2	NM_003110.5		1162,3155,2186	TT,TG,GG		43.2674,39.9001,42.1267		526/614	46002744	5479,7527	2203	4300	6503	43357743	SO:0001819	synonymous_variant	6668	exon6				CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.1578G>T	17.37:g.46002744G>T		Somatic		Capture	SOLID	Phase_I	43357743	NM_003110	A6NK74	Silent	SNP	ENST00000376741.4	37	CCDS11521.2																																																																																				0.592	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110	
RNF43	54894	hgsc.bcm.edu	37	17	56439945	56439945	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:56439945G>A	ENST00000584437.1	-	5	2602	c.647C>T	c.(646-648)tCg>tTg	p.S216L	RNF43_ENST00000581868.1_Missense_Mutation_p.S89L|RNF43_ENST00000407977.2_Missense_Mutation_p.S216L|RNF43_ENST00000500597.2_Missense_Mutation_p.S175L|RNF43_ENST00000577716.1_Missense_Mutation_p.S216L|RNF43_ENST00000583753.1_Missense_Mutation_p.S175L|RNF43_ENST00000577625.1_Missense_Mutation_p.S89L|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	216					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S216L(2)|p.S216*(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCGCAGCACCGAAGCCAGGAT	0.597																																					p.S216L												.	.	3	Substitution - Missense(2)|Substitution - Nonsense(1)	large_intestine(2)|pancreas(1)	c.C647T	17						.						84.0	73.0	77.0					17																	56439945		2203	4300	6503	53794944	SO:0001583	missense	54894	exon6				CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.647C>T	17.37:g.56439945G>A	ENSP00000463069:p.Ser216Leu	Somatic		Capture	SOLID	Phase_I	53794944	NM_017763	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	8.094	0.775100	0.16051	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.07021	3.4;3.23	5.43	3.44	0.39384	.	0.610117	0.16620	N	0.206515	T	0.03305	0.0096	N	0.03608	-0.345	0.33876	D	0.6355	B;B;B	0.15473	0.004;0.013;0.002	B;B;B	0.08055	0.001;0.003;0.0	T	0.35425	-0.9789	10	0.11182	T	0.66	-19.4217	8.7259	0.34469	0.2594:0.0:0.7406:0.0	.	175;216;216	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	L	216;175	ENSP00000385328:S216L;ENSP00000441969:S175L	ENSP00000385328:S216L	S	-	2	0	RNF43	53794944	0.998000	0.40836	0.445000	0.26908	0.962000	0.63368	3.075000	0.50073	0.663000	0.31027	0.491000	0.48974	TCG		0.597	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763	
SEPT4	5414	hgsc.bcm.edu	37	17	56597843	56597843	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:56597843G>A	ENST00000317268.3	-	12	1557	c.1381C>T	c.(1381-1383)Cgg>Tgg	p.R461W	SEPT4_ENST00000317256.6_Missense_Mutation_p.R442W|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000580844.1_Missense_Mutation_p.R362W|SEPT4_ENST00000579371.1_3'UTR|MTMR4_ENST00000323456.5_5'Flank|SEPT4_ENST00000393086.1_Missense_Mutation_p.R442W|SEPT4_ENST00000583114.1_Missense_Mutation_p.R314W|SEPT4_ENST00000426861.1_3'UTR|MTMR4_ENST00000579925.1_5'Flank|SEPT4_ENST00000412945.3_Missense_Mutation_p.R453W|SEPT4_ENST00000457347.2_Missense_Mutation_p.R476W	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	461					apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.R461W(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCATCCGCCGCAGCTGGAAT	0.443																																					p.R461W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1381T	17						.						75.0	74.0	74.0					17																	56597843		2203	4300	6503	53952842	SO:0001583	missense	5414	exon12			AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"""Septins"""	9165	protein-coding gene	gene with protein product	"""bradeoin"", ""septin-M"""	603696	"""peanut-like 2 (Drosophila)"""	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.1381C>T	17.37:g.56597843G>A	ENSP00000321674:p.Arg461Trp	Somatic		Capture	SOLID	Phase_I	53952842	NM_004574	B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	ENST00000317268.3	37	CCDS11610.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.471368	0.26423	.	.	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086	T;T;T;T	0.59083	0.29;0.31;0.29;0.31	5.76	5.76	0.90799	.	0.059246	0.64402	D	0.000004	T	0.78848	0.4348	M	0.82323	2.585	0.80722	D	1	D;D;D;P;D	0.89917	1.0;1.0;1.0;0.816;1.0	D;D;D;B;D	0.85130	0.99;0.997;0.99;0.316;0.981	T	0.81267	-0.1010	10	0.87932	D	0	.	17.4632	0.87625	0.0:0.0:1.0:0.0	.	453;476;442;314;461	O43236-3;O43236-4;O43236-2;O43236-5;O43236	.;.;.;.;SEPT4_HUMAN	W	453;475;442;461;442	ENSP00000414779:R453W;ENSP00000321071:R442W;ENSP00000321674:R461W;ENSP00000376801:R442W	ENSP00000321071:R442W	R	-	1	2	SEPT4	53952842	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.027000	0.57239	2.719000	0.93026	0.655000	0.94253	CGG		0.443	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417	
MARCH10	162333	hgsc.bcm.edu	37	17	60813880	60813880	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:60813880G>T	ENST00000311269.5	-	6	1623	c.1349C>A	c.(1348-1350)tCt>tAt	p.S450Y	MARCH10_ENST00000456609.2_Missense_Mutation_p.S450Y|MARCH10_ENST00000583600.1_Missense_Mutation_p.S488Y|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000544856.2_Missense_Mutation_p.S449Y|RP11-156L14.1_ENST00000584597.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	450					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.S450Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GTAGTCAAGAGAATTTTGAGA	0.393																																					p.S450Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1349A	17						.						84.0	84.0	84.0					17																	60813880		2203	4300	6503	58167612	SO:0001583	missense	162333	exon6			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.1349C>A	17.37:g.60813880G>T	ENSP00000311496:p.Ser450Tyr	Somatic		Capture	SOLID	Phase_I	58167612	NM_152598	D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	37	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559864	0.27827	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.13307	2.6;2.6;2.6	5.55	4.58	0.56647	.	0.215309	0.33401	N	0.004960	T	0.26593	0.0650	M	0.64997	1.995	0.09310	N	1	P;D;P	0.53462	0.933;0.96;0.933	P;P;P	0.55965	0.618;0.788;0.564	T	0.05451	-1.0884	10	0.39692	T	0.17	-3.4994	11.9329	0.52857	0.0:0.0:0.8264:0.1736	.	449;449;450	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	Y	450;450;449	ENSP00000416177:S450Y;ENSP00000311496:S450Y;ENSP00000443746:S449Y	ENSP00000311496:S450Y	S	-	2	0	MARCH10	58167612	0.189000	0.23263	0.007000	0.13788	0.290000	0.27261	1.678000	0.37586	1.345000	0.45676	0.561000	0.74099	TCT		0.393	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598	
FAM64A	54478	hgsc.bcm.edu	37	17	6353365	6353365	+	Intron	SNP	T	T	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:6353365T>C	ENST00000250056.8	+	5	769				FAM64A_ENST00000572447.1_Missense_Mutation_p.L235P|FAM64A_ENST00000576056.1_Missense_Mutation_p.L235P|FAM64A_ENST00000570337.2_3'UTR|FAM64A_ENST00000572595.2_Intron	NM_001195228.1	NP_001182157.1	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A						mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.L235P(1)		breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		ATCGTCTCTCTCATTCATGAC	0.522																																					p.L235P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T704C	17						.						214.0	160.0	178.0					17																	6353365		2203	4300	6503	6294089	SO:0001627	intron_variant	54478	exon5				CCDS32541.1, CCDS56016.1	17p13.2	2013-10-11			ENSG00000129195	ENSG00000129195			25483	protein-coding gene	gene with protein product	"""CALM interacting protein expressed in thymus and spleen"""					19383357, 16491119	Standard	NM_019013		Approved	FLJ10156, FLJ10491, CATS	uc002gcw.2	Q9BSJ6	OTTHUMG00000177832	ENST00000250056.8:c.687-317T>C	17.37:g.6353365T>C		Somatic		Capture	SOLID	Phase_I	6294089	NM_019013	Q96CT4|Q9NVV1|Q9NWB5	Missense_Mutation	SNP	ENST00000250056.8	37	CCDS56016.1	.	.	.	.	.	.	.	.	.	.	.	17.63	3.437698	0.62955	.	.	ENSG00000129195	ENST00000308855	.	.	.	3.89	3.89	0.44902	.	.	.	.	.	T	0.69387	0.3105	.	.	.	0.44175	D	0.996985	D	0.69078	0.997	D	0.63703	0.917	T	0.71563	-0.4555	7	0.59425	D	0.04	.	9.3914	0.38374	0.0:0.0:0.0:1.0	.	235	Q9BSJ6-2	.	P	235	.	ENSP00000308470:L235P	L	+	2	0	FAM64A	6294089	1.000000	0.71417	0.277000	0.24703	0.527000	0.34593	3.886000	0.56190	1.989000	0.58080	0.379000	0.24179	CTC		0.522	FAM64A-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439156.1	NM_019013	
CCDC47	57003	hgsc.bcm.edu	37	17	61841439	61841439	+	Missense_Mutation	SNP	G	G	A	rs150438042		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:61841439G>A	ENST00000225726.5	-	4	866	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C	CCDC47_ENST00000403162.3_Missense_Mutation_p.R162C|CCDC47_ENST00000582252.1_Missense_Mutation_p.R162C	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	162					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.R162C(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						TGTGCAAGGCGACTGTTTTTA	0.433																																					p.R162C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C484T	17						.	G	CYS/ARG	0,4406		0,0,2203	123.0	119.0	120.0		484	5.8	1.0	17	dbSNP_134	120	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC47	NM_020198.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	162/484	61841439	1,13005	2203	4300	6503	59195171	SO:0001583	missense	57003	exon4			AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.484C>T	17.37:g.61841439G>A	ENSP00000225726:p.Arg162Cys	Somatic		Capture	SOLID	Phase_I	59195171	NM_020198	B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Missense_Mutation	SNP	ENST00000225726.5	37	CCDS11643.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.729210	0.48833	0.0	1.16E-4	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.77883	0.4197	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.83275	0.996;0.828	T	0.77846	-0.2436	9	0.72032	D	0.01	-5.7019	19.3632	0.94451	0.0:0.0:1.0:0.0	.	162;162	Q96A33-2;Q96A33	.;CCD47_HUMAN	C	162	.	ENSP00000225726:R162C	R	-	1	0	CCDC47	59195171	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.068000	0.64364	2.894000	0.99253	0.591000	0.81541	CGC		0.433	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	NM_020198	
BPTF	2186	hgsc.bcm.edu	37	17	65941878	65941878	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:65941878C>T	ENST00000321892.4	+	23	7493	c.7432C>T	c.(7432-7434)Cgt>Tgt	p.R2478C	BPTF_ENST00000306378.6_Missense_Mutation_p.R2352C|BPTF_ENST00000335221.5_Missense_Mutation_p.R2478C|BPTF_ENST00000424123.3_Missense_Mutation_p.R2339C			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2478					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.R2478C(1)|p.R2352C(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)			GACTCGAATACGTCCATCAAC	0.478																																					p.R2478C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C7432T	17						.						222.0	189.0	200.0					17																	65941878		2203	4300	6503	63372340	SO:0001583	missense	2186	exon23			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.7432C>T	17.37:g.65941878C>T	ENSP00000315454:p.Arg2478Cys	Somatic		Capture	SOLID	Phase_I	63372340	NM_004459	Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	C	16.95	3.264396	0.59431	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000424123	T;T;T	0.62364	0.04;0.03;0.04	5.95	5.95	0.96441	.	.	.	.	.	T	0.63640	0.2528	N	0.22421	0.69	0.32927	D	0.51661	D;D;D	0.71674	0.995;0.998;0.998	B;P;P	0.53649	0.332;0.731;0.731	T	0.67515	-0.5651	9	0.40728	T	0.16	-3.7425	20.4024	0.99000	0.0:1.0:0.0:0.0	.	156;2352;2478	B4DJV8;Q12830-2;Q12830-4	.;.;.	C	2352;2478;2478;149	ENSP00000307208:R2352C;ENSP00000334351:R2478C;ENSP00000315454:R2478C	ENSP00000307208:R2352C	R	+	1	0	BPTF	63372340	0.969000	0.33509	1.000000	0.80357	0.788000	0.44548	5.437000	0.66544	2.827000	0.97445	0.650000	0.86243	CGT		0.478	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459	
ABCA6	23460	hgsc.bcm.edu	37	17	67109871	67109871	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:67109871C>T	ENST00000284425.2	-	14	1964	c.1790G>A	c.(1789-1791)cGa>cAa	p.R597Q		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	597	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R597Q(1)|p.R597L(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CAATAATATTCGTTGTACCTA	0.328																																					p.R597Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1790A	17						.						88.0	79.0	82.0					17																	67109871		2203	4300	6503	64621466	SO:0001583	missense	23460	exon14			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1790G>A	17.37:g.67109871C>T	ENSP00000284425:p.Arg597Gln	Somatic		Capture	SOLID	Phase_I	64621466	NM_080284	Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	9.962	1.223130	0.22457	.	.	ENSG00000154262	ENST00000284425	D	0.93659	-3.26	4.96	-5.1	0.02911	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.506301	0.17612	N	0.168051	D	0.84674	0.5524	L	0.41415	1.275	0.35664	D	0.812754	P	0.36065	0.535	B	0.30716	0.119	T	0.74830	-0.3531	10	0.20046	T	0.44	.	10.3152	0.43732	0.1097:0.1424:0.0:0.7478	.	597	Q8N139	ABCA6_HUMAN	Q	597	ENSP00000284425:R597Q	ENSP00000284425:R597Q	R	-	2	0	ABCA6	64621466	0.039000	0.19947	0.002000	0.10522	0.376000	0.30014	0.215000	0.17562	-1.059000	0.03193	-0.237000	0.12165	CGA		0.328	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	
ABCA5	23461	hgsc.bcm.edu	37	17	67249962	67249962	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:67249962C>A	ENST00000392676.3	-	33	4357	c.4293G>T	c.(4291-4293)aaG>aaT	p.K1431N	ABCA5_ENST00000392677.2_Missense_Mutation_p.K1432N|ABCA5_ENST00000588877.1_Missense_Mutation_p.K1431N			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1431	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.K1431N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	CAGGTAGTTTCTTTACAGTCT	0.294																																					p.K1431N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4293T	17						.						134.0	135.0	134.0					17																	67249962		2202	4299	6501	64761557	SO:0001583	missense	23461	exon32			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.4293G>T	17.37:g.67249962C>A	ENSP00000376443:p.Lys1431Asn	Somatic		Capture	SOLID	Phase_I	64761557	NM_018672	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628584	0.87560	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.94000	-3.33;-3.33	5.75	4.79	0.61399	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000002	D	0.95708	0.8604	M	0.62209	1.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95413	0.8500	10	0.48119	T	0.1	.	14.5351	0.67955	0.0:0.93:0.0:0.07	.	1431	Q8WWZ7	ABCA5_HUMAN	N	1432;1431	ENSP00000376444:K1432N;ENSP00000376443:K1431N	ENSP00000376443:K1431N	K	-	3	2	ABCA5	64761557	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.920000	0.40025	1.447000	0.47661	0.650000	0.86243	AAG		0.294	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672	
OTOP3	347741	hgsc.bcm.edu	37	17	72939782	72939782	+	Silent	SNP	C	C	T	rs371360894		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:72939782C>T	ENST00000328801.4	+	5	768	c.768C>T	c.(766-768)atC>atT	p.I256I		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	256						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.I256I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					ACCGAGAGATCGAAGCTGAGC	0.542																																					p.I256I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C768T	17						.	C		0,4406		0,0,2203	109.0	76.0	87.0		768	-1.3	1.0	17		87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OTOP3	NM_178233.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		256/597	72939782	1,13005	2203	4300	6503	70451377	SO:0001819	synonymous_variant	347741	exon5			BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.768C>T	17.37:g.72939782C>T		Somatic		Capture	SOLID	Phase_I	70451377	NM_178233		Silent	SNP	ENST00000328801.4	37	CCDS11709.1																																																																																				0.542	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233	
HID1	283987	hgsc.bcm.edu	37	17	72955035	72955035	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:72955035G>T	ENST00000425042.2	-	9	1197	c.1120C>A	c.(1120-1122)Ctc>Atc	p.L374I		NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	374					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)		p.L374I(1)									TTCCAGAAGAGAACTAGCAGC	0.607											OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L374I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1120A	17						.						68.0	54.0	59.0					17																	72955035		2203	4300	6503	70466630	SO:0001583	missense	283987	exon9				CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.1120C>A	17.37:g.72955035G>T	ENSP00000413520:p.Leu374Ile	Somatic	1141	Capture	SOLID	Phase_I	70466630	NM_030630	Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	ENST00000425042.2	37	CCDS32726.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943906	0.53079	.	.	ENSG00000167861	ENST00000525426;ENST00000425042;ENST00000318565	D	0.84516	-1.86	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.85691	0.5755	M	0.62088	1.915	0.58432	D	0.999996	B;B	0.25105	0.02;0.118	B;B	0.33392	0.065;0.163	D	0.83742	0.0204	10	0.44086	T	0.13	-29.8138	18.0358	0.89302	0.0:0.0:1.0:0.0	.	373;374	Q8IV36-2;Q8IV36	.;CQ028_HUMAN	I	146;374;146	ENSP00000317795:L146I	ENSP00000317795:L146I	L	-	1	0	C17orf28	70466630	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.828000	0.86729	2.257000	0.74773	0.449000	0.29647	CTC		0.607	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630	
UNC13D	201294	hgsc.bcm.edu	37	17	73831978	73831978	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:73831978C>A	ENST00000207549.4	-	18	1933	c.1554G>T	c.(1552-1554)aaG>aaT	p.K518N	UNC13D_ENST00000412096.2_Missense_Mutation_p.K518N	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	518	Interaction with RAB27A.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)		p.K518N(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGAGGTGGATCTTGAGGGTAC	0.632									Familial Hemophagocytic Lymphohistiocytosis																												p.K518N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1554T	17						.						147.0	158.0	154.0					17																	73831978		2203	4300	6503	71343573	SO:0001583	missense	201294	exon18	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.1554G>T	17.37:g.73831978C>A	ENSP00000207549:p.Lys518Asn	Somatic		Capture	SOLID	Phase_I	71343573	NM_199242	B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.991144	0.35131	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.69806	-0.41;-0.43	4.28	3.31	0.37934	.	0.138925	0.49305	D	0.000152	T	0.64125	0.2570	L	0.47716	1.5	0.45946	D	0.998776	D;P	0.58970	0.984;0.824	P;B	0.56788	0.806;0.201	T	0.64736	-0.6337	10	0.02654	T	1	-1.3706	9.254	0.37573	0.0:0.8248:0.0:0.1752	.	518;518	Q70J99-3;Q70J99	.;UN13D_HUMAN	N	518	ENSP00000207549:K518N;ENSP00000388093:K518N	ENSP00000207549:K518N	K	-	3	2	UNC13D	71343573	0.999000	0.42202	0.998000	0.56505	0.382000	0.30200	1.441000	0.35035	1.005000	0.39183	0.561000	0.74099	AAG		0.632	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950	
DNAH2	146754	hgsc.bcm.edu	37	17	7669796	7669796	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:7669796G>T	ENST00000572933.1	+	22	5132	c.3672G>T	c.(3670-3672)gaG>gaT	p.E1224D	DNAH2_ENST00000389173.2_Missense_Mutation_p.E1224D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1224	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.E1224D(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)				AGAACCTGGAGAAGGTGGTGT	0.577																																					p.E1224D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3672T	17						.						49.0	47.0	47.0					17																	7669796		2203	4300	6503	7610521	SO:0001583	missense	146754	exon21			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.3672G>T	17.37:g.7669796G>T	ENSP00000458355:p.Glu1224Asp	Somatic		Capture	SOLID	Phase_I	7610521	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645147	0.47258	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.62639	0.01	5.93	3.62	0.41486	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.53481	0.1799	L	0.51422	1.61	0.80722	D	1	B	0.25719	0.132	B	0.28991	0.097	T	0.47911	-0.9080	10	0.20046	T	0.44	.	10.839	0.46704	0.1758:0.0:0.8242:0.0	.	1224	Q9P225	DYH2_HUMAN	D	1224	ENSP00000373825:E1224D	ENSP00000353818:E1224D	E	+	3	2	DNAH2	7610521	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.732000	0.47352	1.512000	0.48834	0.561000	0.74099	GAG		0.577	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
MYH10	4628	hgsc.bcm.edu	37	17	8390870	8390870	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:8390870G>A	ENST00000269243.4	-	34	4972	c.4834C>T	c.(4834-4836)Cgg>Tgg	p.R1612W	MYH10_ENST00000396239.1_Missense_Mutation_p.R1633W|MYH10_ENST00000379980.4_Missense_Mutation_p.R1628W|MYH10_ENST00000360416.3_Missense_Mutation_p.R1643W	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1612					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R1612W(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GCAAGCGCCCGCTGTTTCCTC	0.527																																					p.R1612W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4834T	17						.						217.0	220.0	219.0					17																	8390870		2203	4300	6503	8331595	SO:0001583	missense	4628	exon34			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4834C>T	17.37:g.8390870G>A	ENSP00000269243:p.Arg1612Trp	Somatic		Capture	SOLID	Phase_I	8331595	NM_005964	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004681	0.74932	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5	5.05	2.88	0.33553	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.91811	0.7409	H	0.94222	3.51	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.94138	0.7394	10	0.87932	D	0	.	14.4148	0.67142	0.0:0.0:0.5988:0.4012	.	1621;1643;1612	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	W	1612;1643;1633;1628	ENSP00000269243:R1612W;ENSP00000353590:R1643W;ENSP00000379539:R1633W;ENSP00000369315:R1628W	ENSP00000269243:R1612W	R	-	1	2	MYH10	8331595	0.999000	0.42202	1.000000	0.80357	0.952000	0.60782	0.883000	0.28200	1.459000	0.47892	0.655000	0.94253	CGG		0.527	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2		
WDR16	146845	hgsc.bcm.edu	37	17	9538845	9538845	+	Missense_Mutation	SNP	G	G	A	rs151248064		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:9538845G>A	ENST00000352665.5	+	11	1513	c.1444G>A	c.(1444-1446)Gat>Aat	p.D482N	WDR16_ENST00000396219.3_Missense_Mutation_p.D414N|WDR16_ENST00000299764.5_Missense_Mutation_p.D492N|WDR16_ENST00000576714.1_3'UTR	NM_145054.4	NP_659491.4			WD repeat domain 16									p.D482N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CGCCAGCACCGATGGGACTTG	0.502																																					p.D414N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1240A	17						.	G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	140.0	109.0	119.0		1240,1444	5.1	0.8	17	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	WDR16	NM_001080556.1,NM_145054.4	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	414/553,482/621	9538845	1,13005	2203	4300	6503	9479570	SO:0001583	missense	146845	exon10			AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"""WD repeat domain containing"""	16053	protein-coding gene	gene with protein product	"""WD40-repeat protein upregulated in HCC"""	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.1444G>A	17.37:g.9538845G>A	ENSP00000339449:p.Asp482Asn	Somatic		Capture	SOLID	Phase_I	9479570	NM_001080556		Missense_Mutation	SNP	ENST00000352665.5	37	CCDS11149.2	.	.	.	.	.	.	.	.	.	.	G	32	5.162270	0.94727	0.0	1.16E-4	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	D;D;D	0.88975	-2.45;-2.45;-2.45	5.08	5.08	0.68730	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.96670	0.8913	H	0.97682	4.055	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	0.98264	1.0500	10	0.87932	D	0	-23.9879	17.2628	0.87075	0.0:0.0:1.0:0.0	.	492;414;482	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	N	482;414;492	ENSP00000339449:D482N;ENSP00000379521:D414N;ENSP00000299764:D492N	ENSP00000299764:D492N	D	+	1	0	WDR16	9479570	1.000000	0.71417	0.814000	0.32528	0.919000	0.55068	9.169000	0.94788	2.351000	0.79841	0.655000	0.94253	GAT		0.502	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	NM_145054	
RNF157	114804	hgsc.bcm.edu	37	17	74152366	74152366	+	Silent	SNP	A	A	G	rs881502	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr17:74152366A>G	ENST00000269391.6	-	14	1582	c.1450T>C	c.(1450-1452)Ttg>Ctg	p.L484L	RNF157_ENST00000319945.6_Silent_p.L484L|RNF157-AS1_ENST00000586661.1_RNA|RNF157-AS1_ENST00000586627.1_RNA|RNF157-AS1_ENST00000592748.1_RNA|RNF157-AS1_ENST00000590137.1_RNA|RNF157-AS1_ENST00000585542.1_RNA	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	484	Ser-rich.						zinc ion binding (GO:0008270)	p.L1087L(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GATGACGACAAGGTGAGATTC	0.557													A|||	1558	0.311102	0.2572	0.3977	5008	,	,		22760	0.2163		0.3767	False		,,,				2504	0.3528				p.L484L	GBM(186;507 2120 27388 27773 52994)											.	.	1	Substitution - coding silent(1)	stomach(1)	c.T1450C	17						.	A		1180,3226	415.9+/-337.4	164,852,1187	126.0	109.0	115.0		1450	-8.4	0.2	17	dbSNP_86	115	3098,5502	473.0+/-368.5	575,1948,1777	no	coding-synonymous	RNF157	NM_052916.2		739,2800,2964	GG,GA,AA		36.0233,26.7817,32.8925		484/680	74152366	4278,8728	2203	4300	6503	71663961	SO:0001819	synonymous_variant	114804	exon14			AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.1450T>C	17.37:g.74152366A>G		Somatic		Capture	SOLID	Phase_I	71663961	NM_052916	Q8NB72|Q96N56	Silent	SNP	ENST00000269391.6	37	CCDS32740.1																																																																																				0.557	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732	
BTG3	10950	hgsc.bcm.edu	37	21	18981414	18981414	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr21:18981414G>A	ENST00000348354.6	-	2	305	c.49C>T	c.(49-51)Cga>Tga	p.R17*	BTG3_ENST00000339775.6_Nonsense_Mutation_p.R17*|BTG3_ENST00000464058.1_5'UTR	NM_006806.4	NP_006797.3	Q14201	BTG3_HUMAN	BTG family, member 3	17					negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)	cytoplasm (GO:0005737)		p.R17*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		TCATGTTTTCGAACTAGCCTT	0.313																																					p.R17X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C49T	21						.						86.0	86.0	86.0					21																	18981414		2203	4299	6502	17903285	SO:0001587	stop_gained	10950	exon2			D64110	CCDS13569.1, CCDS46636.1	21q21.1	2006-12-16			ENSG00000154640	ENSG00000154640			1132	protein-coding gene	gene with protein product		605674				9632145	Standard	NM_006806		Approved	ANA, tob55	uc002ykk.3	Q14201	OTTHUMG00000074501	ENST00000348354.6:c.49C>T	21.37:g.18981414G>A	ENSP00000284879:p.Arg17*	Somatic		Capture	SOLID	Phase_I	17903285	NM_006806	D3DSC4|Q53XV1|Q96ET7	Nonsense_Mutation	SNP	ENST00000348354.6	37	CCDS13569.1	.	.	.	.	.	.	.	.	.	.	G	36	5.840847	0.97009	.	.	ENSG00000154640	ENST00000339775;ENST00000348354;ENST00000457956	.	.	.	4.62	4.62	0.57501	.	0.217549	0.35525	N	0.003149	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-8.7172	10.4695	0.44629	0.0:0.0:0.8064:0.1936	.	.	.	.	X	17	.	ENSP00000344609:R17X	R	-	1	2	BTG3	17903285	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.505000	0.60421	2.846000	0.97976	0.650000	0.86243	CGA		0.313	BTG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158196.1	NM_006806	
TMPRSS15	5651	hgsc.bcm.edu	37	21	19642411	19642411	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr21:19642411C>A	ENST00000284885.3	-	25	2968	c.2935G>T	c.(2935-2937)Gaa>Taa	p.E979*		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	979	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.E979*(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						CTGTTGTTTTCTTGGCACATT	0.428																																					p.E979X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2935T	21						.						161.0	146.0	151.0					21																	19642411		2203	4300	6503	18564282	SO:0001587	stop_gained	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.2935G>T	21.37:g.19642411C>A	ENSP00000284885:p.Glu979*	Somatic		Capture	SOLID	Phase_I	18564282	NM_002772	Q2NKL7	Nonsense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	39	7.896353	0.98548	.	.	ENSG00000154646	ENST00000284885	.	.	.	5.99	5.99	0.97316	.	0.061437	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0003	0.71466	0.0:0.8583:0.1417:0.0	.	.	.	.	X	979	.	.	E	-	1	0	TMPRSS15	18564282	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.703000	0.54808	2.840000	0.97914	0.655000	0.94253	GAA		0.428	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	
SCAF4	57466	hgsc.bcm.edu	37	21	33074680	33074680	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr21:33074680G>A	ENST00000286835.7	-	5	716	c.334C>T	c.(334-336)Cgt>Tgt	p.R112C	SCAF4_ENST00000399804.1_Missense_Mutation_p.R112C|SCAF4_ENST00000434667.3_Missense_Mutation_p.R97C	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	112	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R112C(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TTCAGCACACGAACTATTTTA	0.363																																					p.R112C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C334T	21						.						78.0	72.0	74.0					21																	33074680		2203	4300	6503	31996551	SO:0001583	missense	57466	exon5			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.334C>T	21.37:g.33074680G>A	ENSP00000286835:p.Arg112Cys	Somatic		Capture	SOLID	Phase_I	31996551	NM_001145445	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797691	0.70567	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.50277	0.75;0.75;0.75	5.69	5.69	0.88448	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);Domain of unknown function DUF618 (1);	0.000000	0.85682	D	0.000000	T	0.73305	0.3570	M	0.88105	2.93	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.999	T	0.78178	-0.2305	10	0.87932	D	0	-13.2245	14.6288	0.68640	0.0:0.0:0.8544:0.1456	.	97;112;112;112	C9JLZ0;Q0P607;O95104-2;O95104	.;.;.;SFR15_HUMAN	C	97;112;112	ENSP00000402377:R97C;ENSP00000286835:R112C;ENSP00000382703:R112C	ENSP00000286835:R112C	R	-	1	0	SCAF4	31996551	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.502000	0.73695	2.685000	0.91497	0.484000	0.47621	CGT		0.363	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889	
SYNJ1	8867	hgsc.bcm.edu	37	21	34045776	34045776	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr21:34045776G>A	ENST00000322229.7	-	13	1599	c.1600C>T	c.(1600-1602)Cga>Tga	p.R534*	SYNJ1_ENST00000382491.3_Nonsense_Mutation_p.R529*|SYNJ1_ENST00000382499.2_Nonsense_Mutation_p.R573*|SYNJ1_ENST00000433931.2_Nonsense_Mutation_p.R573*|SYNJ1_ENST00000357345.3_Nonsense_Mutation_p.R534*			O43426	SYNJ1_HUMAN	synaptojanin 1	534	Catalytic. {ECO:0000255}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.R534*(2)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ACACATACTCGAATTTTCTTA	0.388																																					p.R573X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1717T	21						.						95.0	91.0	92.0					21																	34045776		2203	4300	6503	32967647	SO:0001587	stop_gained	8867	exon14			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.1600C>T	21.37:g.34045776G>A	ENSP00000322234:p.Arg534*	Somatic		Capture	SOLID	Phase_I	32967647	NM_203446	O43425|O94984|Q4KMR1	Nonsense_Mutation	SNP	ENST00000322229.7	37	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	G	37	6.465883	0.97590	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	.	.	.	5.25	4.36	0.52297	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4524	0.75282	0.0:0.0:0.8599:0.1401	.	.	.	.	X	529;534;573;573;534;529	.	ENSP00000322234:R534X	R	-	1	2	SYNJ1	32967647	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	4.743000	0.62110	1.336000	0.45506	0.460000	0.39030	CGA		0.388	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
IL10RB	3588	hgsc.bcm.edu	37	21	34655474	34655474	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr21:34655474C>T	ENST00000290200.2	+	5	682	c.574C>T	c.(574-576)Cga>Tga	p.R192*	AP000295.9_ENST00000433395.2_Silent_p.F319F	NM_000628.4	NP_000619.3	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta	192	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R192*(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						TGTTCAAGTTCGAGGGTTTCT	0.463																																					p.R192X	Melanoma(67;315 1275 21667 21943 44564)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C574T	21						.						150.0	131.0	137.0					21																	34655474		2203	4300	6503	33577344	SO:0001587	stop_gained	3588	exon5			U08988	CCDS13623.1	21q22.11	2014-09-17			ENSG00000243646	ENSG00000243646		"""Interleukins and interleukin receptors"", ""CD molecules"""	5965	protein-coding gene	gene with protein product		123889		CRFB4, D21S58, D21S66		8314576, 9312047	Standard	NM_000628		Approved	CRF2-4, CDW210B, IL-10R2		Q08334	OTTHUMG00000065128	ENST00000290200.2:c.574C>T	21.37:g.34655474C>T	ENSP00000290200:p.Arg192*	Somatic		Capture	SOLID	Phase_I	33577344	NM_000628	Q9BUU4	Nonsense_Mutation	SNP	ENST00000290200.2	37	CCDS13623.1	.	.	.	.	.	.	.	.	.	.	C	35	5.585763	0.96578	.	.	ENSG00000243646	ENST00000290200;ENST00000539894	.	.	.	5.39	5.39	0.77823	.	0.644606	0.16041	N	0.232422	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-0.3172	14.674	0.68964	0.0:1.0:0.0:0.0	.	.	.	.	X	192	.	ENSP00000290200:R192X	R	+	1	2	IL10RB	33577344	0.972000	0.33761	0.970000	0.41538	0.987000	0.75469	4.136000	0.58004	2.526000	0.85167	0.561000	0.74099	CGA		0.463	IL10RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139831.3		
IL10RB	3588	hgsc.bcm.edu	37	21	34668491	34668491	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr21:34668491T>G	ENST00000290200.2	+	7	915	c.807T>G	c.(805-807)ttT>ttG	p.F269L		NM_000628.4	NP_000619.3	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta	269				FLGHP -> VGRME (in Ref. 2; AAA86872). {ECO:0000305}.	cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.F269L(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						CTCCACAGTTTTTGGGCCATC	0.383																																					p.F269L	Melanoma(67;315 1275 21667 21943 44564)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T807G	21						.						216.0	190.0	199.0					21																	34668491		2203	4300	6503	33590361	SO:0001583	missense	3588	exon7			U08988	CCDS13623.1	21q22.11	2014-09-17			ENSG00000243646	ENSG00000243646		"""Interleukins and interleukin receptors"", ""CD molecules"""	5965	protein-coding gene	gene with protein product		123889		CRFB4, D21S58, D21S66		8314576, 9312047	Standard	NM_000628		Approved	CRF2-4, CDW210B, IL-10R2		Q08334	OTTHUMG00000065128	ENST00000290200.2:c.807T>G	21.37:g.34668491T>G	ENSP00000290200:p.Phe269Leu	Somatic		Capture	SOLID	Phase_I	33590361	NM_000628	Q9BUU4	Missense_Mutation	SNP	ENST00000290200.2	37	CCDS13623.1	.	.	.	.	.	.	.	.	.	.	T	11.45	1.641966	0.29157	.	.	ENSG00000243646	ENST00000290200;ENST00000539894	T	0.39787	1.06	4.04	1.55	0.23275	.	0.959201	0.08700	N	0.906617	T	0.50171	0.1600	M	0.77616	2.38	0.19945	N	0.999944	D;D	0.53885	0.963;0.963	P;P	0.49752	0.621;0.621	T	0.36529	-0.9744	10	0.49607	T	0.09	-18.5673	5.8856	0.18880	0.0:0.2222:0.0:0.7778	.	271;269	Q6ZVU9;Q08334	.;I10R2_HUMAN	L	269	ENSP00000290200:F269L	ENSP00000290200:F269L	F	+	3	2	IL10RB	33590361	0.898000	0.30612	0.223000	0.23860	0.915000	0.54546	1.126000	0.31344	0.222000	0.20900	0.397000	0.26171	TTT		0.383	IL10RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139831.3		
C2CD2	25966	hgsc.bcm.edu	37	21	43321774	43321774	+	Missense_Mutation	SNP	G	G	A	rs200093070		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr21:43321774G>A	ENST00000380486.3	-	12	1758	c.1517C>T	c.(1516-1518)tCg>tTg	p.S506L	C2CD2_ENST00000329623.7_Missense_Mutation_p.S351L	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	506						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.S506L(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CTTCCGTGGCGACTTGAGTTT	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		20204	0.0		0.001	False		,,,				2504	0.0				p.S351L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1052T	21						.						224.0	158.0	181.0					21																	43321774		2203	4300	6503	42194843	SO:0001583	missense	25966	exon11			AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"""TMEM24-like"""		"""chromosome 21 open reading frame 25"""	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1517C>T	21.37:g.43321774G>A	ENSP00000369853:p.Ser506Leu	Somatic		Capture	SOLID	Phase_I	42194843	NM_199050	Q5R2V7|Q6AHX8|Q9NSE6	Missense_Mutation	SNP	ENST00000380486.3	37	CCDS42933.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	25.5	4.644752	0.87859	.	.	ENSG00000157617	ENST00000329623;ENST00000380486	T;T	0.76448	-1.02;-1.02	4.98	4.98	0.66077	.	0.057763	0.64402	D	0.000001	D	0.87354	0.6156	M	0.72118	2.19	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.71656	0.926;0.974	D	0.88797	0.3282	10	0.87932	D	0	-11.1501	18.2622	0.90039	0.0:0.0:1.0:0.0	.	351;506	Q6P6D1;Q9Y426	.;CU025_HUMAN	L	351;506	ENSP00000329302:S351L;ENSP00000369853:S506L	ENSP00000329302:S351L	S	-	2	0	C2CD2	42194843	1.000000	0.71417	0.931000	0.37212	0.534000	0.34807	9.093000	0.94163	2.479000	0.83701	0.655000	0.94253	TCG		0.498	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	NM_015500	
PDXDC1	23042	hgsc.bcm.edu	37	16	15129964	15129964	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr16:15129964G>A	ENST00000396410.4	+	23	2296	c.2199G>A	c.(2197-2199)gaG>gaA	p.E733E	PDXDC1_ENST00000450288.2_Silent_p.E705E|PDXDC1_ENST00000447912.2_Silent_p.E642E|PDXDC1_ENST00000569715.1_Silent_p.E706E|PDXDC1_ENST00000563679.1_Silent_p.E751E|PDXDC1_ENST00000325823.7_Silent_p.E718E|PDXDC1_ENST00000535621.2_Intron	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	733					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)	p.E733E(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAAAGGTGGAGCGCCTATCCA	0.577																																					p.E733E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2199A	16						.						123.0	122.0	122.0					16																	15129964		2197	4300	6497	15037465	SO:0001819	synonymous_variant	23042	exon23			AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.2199G>A	16.37:g.15129964G>A		Somatic		Capture	SOLID	Phase_I	15037465	NM_015027	B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Silent	SNP	ENST00000396410.4	37	CCDS32393.1																																																																																				0.577	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027	
NTAN1	123803	hgsc.bcm.edu	37	16	15133876	15133876	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr16:15133876G>A	ENST00000287706.3	-	8	681	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	PDXDC1_ENST00000535621.2_Intron	NM_001270766.1|NM_173474.3	NP_001257695.1|NP_775745.1	Q96AB6	NTAN1_HUMAN	N-terminal asparagine amidase	197					adult locomotory behavior (GO:0008344)|memory (GO:0007613)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-N-terminal asparagine amidohydrolase activity (GO:0008418)	p.R197W(1)		endometrium(1)|large_intestine(4)|lung(3)	8						TCCGGACCCCGATCTTGAAAG	0.448																																					p.R197W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C589T	16						.						118.0	126.0	123.0					16																	15133876		2197	4300	6497	15041377	SO:0001583	missense	123803	exon8			AF092440	CCDS10558.1, CCDS73832.1	16p13	2008-02-05			ENSG00000157045	ENSG00000157045			29909	protein-coding gene	gene with protein product		615367				8910481	Standard	NM_173474		Approved		uc002ddd.4	Q96AB6	OTTHUMG00000129849	ENST00000287706.3:c.589C>T	16.37:g.15133876G>A	ENSP00000287706:p.Arg197Trp	Somatic		Capture	SOLID	Phase_I	15041377	NM_173474	Q7Z4Z0	Missense_Mutation	SNP	ENST00000287706.3	37	CCDS10558.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724357	0.48728	.	.	ENSG00000157045	ENST00000287706	T	0.36157	1.27	5.59	3.44	0.39384	.	0.210008	0.41194	D	0.000937	T	0.49406	0.1555	M	0.77103	2.36	0.09310	N	0.999992	D	0.69078	0.997	P	0.51833	0.681	T	0.49818	-0.8899	10	0.87932	D	0	-22.5561	12.6332	0.56669	0.0:0.0:0.6116:0.3884	.	197	Q96AB6	NTAN1_HUMAN	W	197	ENSP00000287706:R197W	ENSP00000287706:R197W	R	-	1	2	NTAN1	15041377	0.720000	0.27996	0.457000	0.27056	0.313000	0.28021	2.753000	0.47524	1.317000	0.45149	0.650000	0.86243	CGG		0.448	NTAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252089.1	NM_173474	
DNAH3	55567	hgsc.bcm.edu	37	16	21033324	21033324	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr16:21033324G>T	ENST00000261383.3	-	40	5744	c.5745C>A	c.(5743-5745)ttC>ttA	p.F1915L	DNAH3_ENST00000415178.1_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1915					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)|microtubule motor activity (GO:0003777)	p.F1915L(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCATCATTGAGAAGGCAAGGT	0.458																																					p.F1915L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5745A	16						.						121.0	100.0	107.0					16																	21033324		2201	4300	6501	20940825	SO:0001583	missense	55567	exon40			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.5745C>A	16.37:g.21033324G>T	ENSP00000261383:p.Phe1915Leu	Somatic		Capture	SOLID	Phase_I	20940825	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	9.206	1.029718	0.19512	.	.	ENSG00000158486	ENST00000261383	T	0.25085	1.82	4.92	3.96	0.45880	.	0.217607	0.40302	N	0.001130	T	0.14743	0.0356	L	0.28458	0.855	0.80722	D	1	B	0.24675	0.109	B	0.13407	0.009	T	0.07195	-1.0785	10	0.11485	T	0.65	.	8.0929	0.30811	0.3083:0.0:0.6917:0.0	.	1915	Q8TD57	DYH3_HUMAN	L	1915	ENSP00000261383:F1915L	ENSP00000261383:F1915L	F	-	3	2	DNAH3	20940825	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.335000	0.33839	1.055000	0.40461	0.462000	0.41574	TTC		0.458	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
CDR2	1039	hgsc.bcm.edu	37	16	22376249	22376249	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr16:22376249T>C	ENST00000268383.2	-	2	473	c.166A>G	c.(166-168)Aat>Gat	p.N56D	RP11-21M24.3_ENST00000566764.1_RNA|CDR2_ENST00000569045.1_5'UTR	NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	56						cytoplasm (GO:0005737)		p.N56D(1)		endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TGCTCCTGATTGGTTGTATAC	0.428																																					p.N56D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A166G	16						.						178.0	140.0	153.0					16																	22376249		2197	4300	6497	22283750	SO:0001583	missense	1039	exon2			M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"""Yo paraneoplastic antigen"""	117340	"""cerebellar degeneration-related protein (62kD)"""			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000268383.2:c.166A>G	16.37:g.22376249T>C	ENSP00000268383:p.Asn56Asp	Somatic		Capture	SOLID	Phase_I	22283750	NM_001802	A8K8A8|Q13977	Missense_Mutation	SNP	ENST00000268383.2	37	CCDS32404.1	.	.	.	.	.	.	.	.	.	.	T	35	5.463550	0.96257	.	.	ENSG00000140743	ENST00000268383	T	0.29142	1.58	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.56963	0.2021	M	0.80616	2.505	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.55496	-0.8132	10	0.22109	T	0.4	-21.386	16.1127	0.81273	0.0:0.0:0.0:1.0	.	56	Q01850	CDR2_HUMAN	D	56	ENSP00000268383:N56D	ENSP00000268383:N56D	N	-	1	0	CDR2	22283750	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.390000	0.79816	2.212000	0.71576	0.260000	0.18958	AAT		0.428	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430081.1		
PLK1	5347	hgsc.bcm.edu	37	16	23692347	23692347	+	Silent	SNP	C	C	T	rs11645497		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr16:23692347C>T	ENST00000300093.4	+	3	801	c.690C>T	c.(688-690)ttC>ttT	p.F230F	PLK1_ENST00000564202.1_3'UTR	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	230	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.F230F(2)|p.F230L(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)		GGCACAGTTTCGAGGTGGATG	0.527																																					p.F230F	Colon(12;240 564 27038 33155)											.	.	3	Substitution - coding silent(2)|Substitution - Missense(1)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(1)	c.C690T	16						.						229.0	204.0	213.0					16																	23692347		2197	4300	6497	23599848	SO:0001819	synonymous_variant	5347	exon3				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	ENST00000300093.4:c.690C>T	16.37:g.23692347C>T		Somatic		Capture	SOLID	Phase_I	23599848	NM_005030	Q15153|Q99746	Silent	SNP	ENST00000300093.4	37	CCDS10616.1																																																																																				0.527	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030	
IL21R	50615	hgsc.bcm.edu	37	16	27448898	27448898	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr16:27448898G>A	ENST00000337929.3	+	4	715	c.242G>A	c.(241-243)tGc>tAc	p.C81Y	IL21R_ENST00000564089.1_Missense_Mutation_p.C81Y|IL21R_ENST00000395754.4_Missense_Mutation_p.C81Y|IL21R_ENST00000395755.1_Missense_Mutation_p.C81Y	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	81	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.		Missing (in IL21RID; loss of function mutation). {ECO:0000269|PubMed:23440042}.		interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)	p.C81Y(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						ACCTACACCTGCCACATGGAT	0.552			T	BCL6	NHL																																p.C103Y			Dom	yes		16	16p11	50615	interleukin 21 receptor		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G308A	16						.						151.0	114.0	127.0					16																	27448898		2197	4300	6497	27356399	SO:0001583	missense	50615	exon5			AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.242G>A	16.37:g.27448898G>A	ENSP00000338010:p.Cys81Tyr	Somatic		Capture	SOLID	Phase_I	27356399	NM_181079	A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.144574	0.37825	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	D;D;D	0.99961	-9.31;-9.31;-9.31	4.51	4.51	0.55191	Fibronectin, type III (1);	0.116604	0.64402	D	0.000015	D	0.99955	0.9981	M	0.76328	2.33	0.53688	D	0.999977	D	0.89917	1.0	D	0.91635	0.999	D	0.93985	0.7261	10	0.87932	D	0	-29.2572	13.0951	0.59187	0.0:0.0:1.0:0.0	.	81	Q9HBE5	IL21R_HUMAN	Y	81	ENSP00000338010:C81Y;ENSP00000379104:C81Y;ENSP00000379103:C81Y	ENSP00000338010:C81Y	C	+	2	0	IL21R	27356399	1.000000	0.71417	0.951000	0.38953	0.016000	0.09150	4.688000	0.61715	2.201000	0.70794	0.555000	0.69702	TGC		0.552	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078	
ATXN2L	11273	hgsc.bcm.edu	37	16	28846428	28846428	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr16:28846428G>C	ENST00000336783.4	+	19	2650	c.2483G>C	c.(2482-2484)gGc>gCc	p.G828A	ATXN2L_ENST00000570200.1_Missense_Mutation_p.G828A|ATXN2L_ENST00000340394.8_Missense_Mutation_p.G828A|ATXN2L_ENST00000382686.4_Missense_Mutation_p.G828A|ATXN2L_ENST00000564304.1_Missense_Mutation_p.G834A|ATXN2L_ENST00000325215.6_Missense_Mutation_p.G828A|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000395547.2_Missense_Mutation_p.G828A	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	828					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)	p.G828A(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CTGACGTCGGGCAGCCATCCC	0.637																																					p.G828A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2483C	16						.						128.0	108.0	115.0					16																	28846428		2197	4300	6497	28753929	SO:0001583	missense	11273	exon19				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.2483G>C	16.37:g.28846428G>C	ENSP00000338718:p.Gly828Ala	Somatic		Capture	SOLID	Phase_I	28753929	NM_148416	A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	20.5	3.994176	0.74703	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.52295	0.73;0.67;0.69;0.73;0.72	5.17	5.17	0.71159	.	0.079869	0.52532	D	0.000061	T	0.49115	0.1538	L	0.43152	1.355	0.58432	D	0.999995	P;P;P;P;P;P;P	0.41393	0.748;0.633;0.633;0.748;0.748;0.633;0.748	P;B;B;P;P;B;P	0.49637	0.617;0.413;0.413;0.617;0.617;0.413;0.617	T	0.27502	-1.0072	10	0.06625	T	0.88	-8.5007	17.609	0.88047	0.0:0.0:1.0:0.0	.	828;828;828;828;828;828;828	Q8WWM7-6;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;ATX2L_HUMAN;.;.;.;.	A	828	ENSP00000341459:G828A;ENSP00000378917:G828A;ENSP00000338718:G828A;ENSP00000372133:G828A;ENSP00000315650:G828A	ENSP00000315650:G828A	G	+	2	0	ATXN2L	28753929	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.441000	0.44864	2.700000	0.92200	0.563000	0.77884	GGC		0.637	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245	
OR2C1	4993	hgsc.bcm.edu	37	16	3406626	3406626	+	Missense_Mutation	SNP	G	G	A	rs11648783	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr16:3406626G>A	ENST00000304936.2	+	1	738	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	229			R -> H (in dbSNP:rs11648783). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9847080}.		detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	cell cortex (GO:0005938)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CTGAAAATCCGCTCTGCAGAG	0.547													G|||	1265	0.252596	0.3389	0.2421	5008	,	,		21776	0.1429		0.2614	False		,,,				2504	0.2474				p.R229H												.	.	0			c.G686A	16						.		HIS/ARG	1522,2872	481.7+/-359.2	249,1024,924	123.0	103.0	110.0		686	-5.3	0.3	16	dbSNP_120	110	2366,6234	395.9+/-345.2	330,1706,2264	no	missense	OR2C1	NM_012368.2	29	579,2730,3188	AA,AG,GG		27.5116,34.6381,29.9215	benign	229/313	3406626	3888,9106	2197	4300	6497	3346627	SO:0001583	missense	4993	exon1			AF098664	CCDS10502.1	16p13.3	2012-08-09			ENSG00000168158	ENSG00000168158		"""GPCR / Class A : Olfactory receptors"""	8242	protein-coding gene	gene with protein product				OR2C2P		9847080	Standard	NM_012368		Approved	OLFmf3	uc002cuw.1	O95371	OTTHUMG00000090505	ENST00000304936.2:c.686G>A	16.37:g.3406626G>A	ENSP00000307726:p.Arg229His	Somatic		Capture	SOLID	Phase_I	3346627	NM_012368	A0AVA4|Q6IF34|Q6IF55	Missense_Mutation	SNP	ENST00000304936.2	37	CCDS10502.1	563	0.25778388278388276	184	0.37398373983739835	92	0.2541436464088398	81	0.14160839160839161	206	0.2717678100263852	g	4.555	0.103149	0.08731	0.346381	0.275116	ENSG00000168158	ENST00000304936	T	0.39229	1.09	5.0	-5.29	0.02747	GPCR, rhodopsin-like superfamily (1);	0.596862	0.14073	N	0.343234	T	0.00012	0.0000	N	0.13003	0.285	0.80722	P	0.0	B	0.14012	0.009	B	0.10450	0.005	T	0.41538	-0.9503	9	0.62326	D	0.03	.	2.6261	0.04930	0.3111:0.2577:0.3384:0.0928	rs11648783;rs56545253;rs59091664;rs11648783	229	O95371	OR2C1_HUMAN	H	229	ENSP00000307726:R229H	ENSP00000307726:R229H	R	+	2	0	OR2C1	3346627	0.000000	0.05858	0.334000	0.25495	0.003000	0.03518	-0.888000	0.04148	-0.962000	0.03604	-2.321000	0.00252	CGC		0.547	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206993.3		
ZNF500	26048	hgsc.bcm.edu	37	16	4802835	4802835	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr16:4802835C>T	ENST00000219478.6	-	6	1284	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K	ZNF500_ENST00000591026.1_5'UTR|RP11-127I20.7_ENST00000588099.1_RNA|ZNF500_ENST00000545009.1_Missense_Mutation_p.E329K			O60304	ZN500_HUMAN	zinc finger protein 500	329					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E329K(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						TTGCCACATTCGGGGCAGGTG	0.632																																					p.E329K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G985A	16						.						98.0	85.0	89.0					16																	4802835		2197	4300	6497	4742836	SO:0001583	missense	26048	exon6			AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.985G>A	16.37:g.4802835C>T	ENSP00000219478:p.Glu329Lys	Somatic		Capture	SOLID	Phase_I	4742836	NM_021646	A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Missense_Mutation	SNP	ENST00000219478.6	37	CCDS32383.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.956855	0.34565	.	.	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.07327	3.2;3.2	4.07	2.09	0.27110	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.243812	0.21147	N	0.079390	T	0.04227	0.0117	N	0.20357	0.565	0.09310	N	1	B;P	0.36683	0.309;0.565	B;B	0.24155	0.051;0.051	T	0.37979	-0.9682	10	0.49607	T	0.09	.	7.9979	0.30280	0.0:0.791:0.0:0.209	.	329;329	B4DNN9;O60304	.;ZN500_HUMAN	K	329	ENSP00000445714:E329K;ENSP00000219478:E329K	ENSP00000219478:E329K	E	-	1	0	ZNF500	4742836	0.000000	0.05858	0.010000	0.14722	0.184000	0.23303	-0.222000	0.09190	0.217000	0.20800	0.655000	0.94253	GAA		0.632	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432461.1	XM_085507	
SRCAP	10847	hgsc.bcm.edu	37	16	30748804	30748804	+	Silent	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr16:30748804C>A	ENST00000262518.4	+	34	7828	c.7443C>A	c.(7441-7443)atC>atA	p.I2481I	SRCAP_ENST00000395059.2_Silent_p.I2419I|SRCAP_ENST00000344771.4_Silent_p.I2323I	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2481	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.I2481I(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTGTCCATATCTTGccttctc	0.562																																					p.I2481I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7443A	16						.						224.0	147.0	173.0					16																	30748804		2194	4299	6493	30656305	SO:0001819	synonymous_variant	10847	exon34			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7443C>A	16.37:g.30748804C>A		Somatic		Capture	SOLID	Phase_I	30656305	NM_006662	B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	CCDS10689.2																																																																																				0.562	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662	
IRX5	10265	hgsc.bcm.edu	37	16	54966517	54966517	+	Silent	SNP	C	C	T	rs151037166		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr16:54966517C>T	ENST00000394636.4	+	2	694	c.357C>T	c.(355-357)aaC>aaT	p.N119N	CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000558597.1_Silent_p.N53N|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000320990.5_Silent_p.N119N			P78411	IRX5_HUMAN	iroquois homeobox 5	119					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)	p.N119N(1)		kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						ACCGGAAGAACGCCACAAGGG	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14461	0.0		0.0	False		,,,				2504	0.0				p.N119N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C357T	16						.	C		6,4390	11.4+/-27.6	0,6,2192	124.0	100.0	108.0		357	1.5	1.0	16	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous	IRX5	NM_005853.5		0,6,6492	TT,TC,CC		0.0,0.1365,0.0462		119/484	54966517	6,12990	2198	4300	6498	53524018	SO:0001819	synonymous_variant	10265	exon2			U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.357C>T	16.37:g.54966517C>T		Somatic		Capture	SOLID	Phase_I	53524018	NM_005853	H0YMS7|P78416|Q7Z2E1	Silent	SNP	ENST00000394636.4	37	CCDS10751.1																																																																																				0.642	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2		
PRSS54	221191	hgsc.bcm.edu	37	16	58324898	58324898	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr16:58324898G>T	ENST00000219301.4	-	4	622	c.228C>A	c.(226-228)ttC>ttA	p.F76L	PRSS54_ENST00000567164.1_Missense_Mutation_p.F76L|PRSS54_ENST00000543437.1_Intron	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	76	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.F76L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGAGGACCCAGAACTCGCTCA	0.642																																					p.F76L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C228A	16						.						98.0	80.0	86.0					16																	58324898		2198	4300	6498	56882399	SO:0001583	missense	221191	exon4			AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023		"""Serine peptidases / Serine peptidases"""	26336	protein-coding gene	gene with protein product	"""cancer/testis antigen 67"""					17521433	Standard	NM_001080492		Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.228C>A	16.37:g.58324898G>T	ENSP00000219301:p.Phe76Leu	Somatic		Capture	SOLID	Phase_I	56882399	NM_001080492	Q96LN9|Q9NT77	Missense_Mutation	SNP	ENST00000219301.4	37	CCDS32463.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284675	0.59867	.	.	ENSG00000103023	ENST00000219301	D	0.88201	-2.35	5.85	5.85	0.93711	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.212508	0.33959	N	0.004391	D	0.83119	0.5185	L	0.36672	1.1	0.40381	D	0.979445	P	0.40144	0.704	B	0.38428	0.273	T	0.80808	-0.1217	10	0.11485	T	0.65	-23.6935	15.6635	0.77206	0.0:0.0:1.0:0.0	.	76	Q6PEW0	PRS54_HUMAN	L	76	ENSP00000219301:F76L	ENSP00000219301:F76L	F	-	3	2	PRSS54	56882399	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.393000	0.52544	2.773000	0.95371	0.655000	0.94253	TTC		0.642	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422556.1	NM_001080492	
DDX19B	11269	hgsc.bcm.edu	37	16	70359579	70359579	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr16:70359579C>T	ENST00000288071.6	+	7	840	c.595C>T	c.(595-597)Cga>Tga	p.R199*	RP11-529K1.3_ENST00000567706.1_Nonsense_Mutation_p.R199*|DDX19B_ENST00000568625.1_Nonsense_Mutation_p.R90*|DDX19B_ENST00000355992.3_Nonsense_Mutation_p.R168*|DDX19B_ENST00000563392.1_Nonsense_Mutation_p.R90*|DDX19B_ENST00000451014.3_Nonsense_Mutation_p.R173*|DDX19B_ENST00000393657.2_Nonsense_Mutation_p.R90*|DDX19B_ENST00000563206.1_Nonsense_Mutation_p.R204*|RP11-529K1.2_ENST00000562077.1_RNA	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	199	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|N-terminal lobe.				mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.R199*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				TTATGCTGTTCGAGGCAATAA	0.368																																					p.R90X	Esophageal Squamous(26;382 757 1343 9728 15939)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C268T	16						.						175.0	167.0	170.0					16																	70359579		2198	4300	6498	68917080	SO:0001587	stop_gained	11269	exon5			AJ237946	CCDS10888.1, CCDS32475.1, CCDS42187.1, CCDS58478.1	16q22.3	2012-02-23	2012-02-23	2005-07-13	ENSG00000157349	ENSG00000157349		"""DEAD-boxes"""	2742	protein-coding gene	gene with protein product		605812	"""DEAD (Asp-Glu-Ala-As) box polypeptide 19"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)"""	DDX19		10428971	Standard	NM_007242		Approved	DBP5	uc002eyo.4	Q9UMR2	OTTHUMG00000137577	ENST00000288071.6:c.595C>T	16.37:g.70359579C>T	ENSP00000288071:p.Arg199*	Somatic		Capture	SOLID	Phase_I	68917080	NM_001014449	B3KNE9|B4DXS6|E7EMK4|Q6FIB7|Q6IAE0|Q96KE7|Q9H0U0	Nonsense_Mutation	SNP	ENST00000288071.6	37	CCDS10888.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908291	0.72868	.	.	ENSG00000157349	ENST00000451014;ENST00000355992;ENST00000393657;ENST00000288071	.	.	.	5.49	4.55	0.56014	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.1126	12.0563	0.53538	0.0:0.9178:0.0:0.0822	.	.	.	.	X	173;168;90;199	.	ENSP00000288071:R199X	R	+	1	2	DDX19B	68917080	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.798000	0.47884	1.569000	0.49696	0.655000	0.94253	CGA		0.368	DDX19B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268965.3	NM_007242	
ZNF821	55565	hgsc.bcm.edu	37	16	71894311	71894311	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr16:71894311G>A	ENST00000565601.1	-	7	1256	c.849C>T	c.(847-849)agC>agT	p.S283S	ZNF821_ENST00000564134.1_3'UTR|ZNF821_ENST00000313565.6_Silent_p.S241S|ZNF821_ENST00000446827.2_Silent_p.S241S|ZNF821_ENST00000425432.1_Silent_p.S283S|ATXN1L_ENST00000569119.1_Intron	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821	283					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.S241S(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						TGTCCCGCCGGCTCTTCTTGG	0.642																																					p.S241S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C723T	16						.						45.0	43.0	44.0					16																	71894311		2198	4300	6498	70451812	SO:0001819	synonymous_variant	55565	exon6			AF070588	CCDS32481.1, CCDS56006.1, CCDS73911.1	16q22.3	2008-05-02				ENSG00000102984		"""Zinc fingers, C2H2-type"""	28043	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_017530		Approved		uc021tlb.1	O75541		ENST00000565601.1:c.849C>T	16.37:g.71894311G>A		Somatic		Capture	SOLID	Phase_I	70451812	NM_017530	A6NK48|B4DKK4|D3DWS3	Silent	SNP	ENST00000565601.1	37	CCDS56006.1																																																																																				0.642	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434180.1	NM_017530	
TMEM186	25880	hgsc.bcm.edu	37	16	8889867	8889867	+	Missense_Mutation	SNP	C	C	T	rs572890247		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr16:8889867C>T	ENST00000333050.6	-	2	617	c.584G>A	c.(583-585)cGc>cAc	p.R195H	TMEM186_ENST00000564869.1_Intron|PMM2_ENST00000569958.1_5'Flank|PMM2_ENST00000566983.1_Intron|PMM2_ENST00000539622.1_5'Flank|PMM2_ENST00000268261.4_5'Flank|PMM2_ENST00000537352.1_5'Flank	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	195						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.R195H(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						GTCCAGGATGCGTCCATAGCG	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		21431	0.0		0.0	False		,,,				2504	0.001				p.R195H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G584A	16						.						171.0	143.0	153.0					16																	8889867		2197	4300	6497	8797368	SO:0001583	missense	25880	exon2			BC015912	CCDS10535.1	16p13.2	2008-02-05	2007-02-08	2007-02-08	ENSG00000184857	ENSG00000184857			24530	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 51"""	C16orf51		11230166	Standard	NM_015421		Approved	DKFZP564K2062	uc002cze.3	Q96B77	OTTHUMG00000129696	ENST00000333050.6:c.584G>A	16.37:g.8889867C>T	ENSP00000331640:p.Arg195His	Somatic		Capture	SOLID	Phase_I	8797368	NM_015421	B2RAY0|Q9Y4T4	Missense_Mutation	SNP	ENST00000333050.6	37	CCDS10535.1	.	.	.	.	.	.	.	.	.	.	C	3.679	-0.065932	0.07273	.	.	ENSG00000184857	ENST00000333050	T	0.42131	0.98	5.41	-1.43	0.08884	.	0.386547	0.19396	N	0.115285	T	0.27900	0.0687	L	0.47190	1.495	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.12760	-1.0535	10	0.36615	T	0.2	-13.7894	3.7377	0.08517	0.0992:0.4175:0.0975:0.3858	.	195	Q96B77	TM186_HUMAN	H	195	ENSP00000331640:R195H	ENSP00000331640:R195H	R	-	2	0	TMEM186	8797368	0.041000	0.20044	0.000000	0.03702	0.149000	0.21700	0.308000	0.19314	-0.463000	0.06973	-1.094000	0.02160	CGC		0.557	TMEM186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251903.1	NM_015421	
ADAMTS18	170692	hgsc.bcm.edu	37	16	77401580	77401580	+	Missense_Mutation	SNP	G	G	A	rs387906972		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr16:77401580G>A	ENST00000282849.5	-	4	954	c.536C>T	c.(535-537)tCg>tTg	p.S179L	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	179			S -> L (in dbSNP:rs387906972). {ECO:0000269|PubMed:21862674, ECO:0000269|PubMed:23667181}.		eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S179L(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGGTAATGGCGAGATGAGGAA	0.478																																					p.S179L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C536T	16						.						123.0	110.0	115.0					16																	77401580		2198	4300	6498	75959081	SO:0001583	missense	170692	exon4			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.536C>T	16.37:g.77401580G>A	ENSP00000282849:p.Ser179Leu	Somatic		Capture	SOLID	Phase_I	75959081	NM_199355	Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279350	0.80692	.	.	ENSG00000140873	ENST00000282849;ENST00000449265	T;T	0.06371	3.31;3.31	4.72	4.72	0.59763	Peptidase M12B, propeptide (1);	0.133396	0.52532	D	0.000079	T	0.10551	0.0258	L	0.59436	1.845	0.48696	D	0.999693	P	0.44734	0.842	B	0.40782	0.34	T	0.02813	-1.1107	10	0.72032	D	0.01	.	16.8505	0.85992	0.0:0.0:1.0:0.0	.	179	Q8TE60	ATS18_HUMAN	L	179	ENSP00000282849:S179L;ENSP00000392540:S179L	ENSP00000282849:S179L	S	-	2	0	ADAMTS18	75959081	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.323000	0.59221	2.446000	0.82766	0.555000	0.69702	TCG		0.478	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1		
GNAL	2774	hgsc.bcm.edu	37	18	11753891	11753891	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr18:11753891C>T	ENST00000423027.3	+	4	661	c.340C>T	c.(340-342)Cga>Tga	p.R114*	GNAL_ENST00000535121.1_Nonsense_Mutation_p.R114*|GNAL_ENST00000269162.5_Nonsense_Mutation_p.R114*|GNAL_ENST00000334049.6_Nonsense_Mutation_p.R191*|GNAL_ENST00000590972.1_3'UTR			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	114					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	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.R191*(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						AAACCAATTTCGATCAGACTA	0.363																																					p.R114X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C340T	18						.						97.0	95.0	96.0					18																	11753891		2203	4300	6503	11743891	SO:0001587	stop_gained	2774	exon4			AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.340C>T	18.37:g.11753891C>T	ENSP00000408489:p.Arg114*	Somatic		Capture	SOLID	Phase_I	11743891	NM_002071	B7ZA26|Q86XU3	Nonsense_Mutation	SNP	ENST00000423027.3	37	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	C	39	7.293053	0.98192	.	.	ENSG00000141404	ENST00000540217;ENST00000334049;ENST00000535121;ENST00000269162;ENST00000423027	.	.	.	5.69	3.89	0.44902	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1235	0.72463	0.2583:0.7417:0.0:0.0	.	.	.	.	X	53;191;114;114;114	.	ENSP00000269162:R114X	R	+	1	2	GNAL	11743891	1.000000	0.71417	0.996000	0.52242	0.964000	0.63967	2.988000	0.49386	0.743000	0.32719	-0.310000	0.09108	CGA		0.363	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071	
ESCO1	114799	hgsc.bcm.edu	37	18	19153644	19153644	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr18:19153644C>A	ENST00000269214.5	-	4	2098	c.1161G>T	c.(1159-1161)aaG>aaT	p.K387N		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	387					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)	p.K387N(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						AGTTGGAGTTCTTCTTGGCTG	0.358																																					p.K387N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1161T	18						.						127.0	128.0	128.0					18																	19153644		2203	4300	6503	17407642	SO:0001583	missense	114799	exon4			AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.1161G>T	18.37:g.19153644C>A	ENSP00000269214:p.Lys387Asn	Somatic		Capture	SOLID	Phase_I	17407642	NM_052911	B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157928	0.57368	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.70869	-0.52;0.97	5.74	4.87	0.63330	.	0.000000	0.64402	D	0.000002	T	0.79275	0.4418	M	0.66939	2.045	0.42742	D	0.993742	D	0.89917	1.0	D	0.85130	0.997	T	0.79897	-0.1609	10	0.62326	D	0.03	-15.6257	6.4605	0.21954	0.0:0.8123:0.0:0.1877	.	387	Q5FWF5	ESCO1_HUMAN	N	387	ENSP00000269214:K387N;ENSP00000372763:K387N	ENSP00000269214:K387N	K	-	3	2	ESCO1	17407642	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	2.272000	0.43373	2.715000	0.92844	0.655000	0.94253	AAG		0.358	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911	
DSG4	147409	hgsc.bcm.edu	37	18	28993149	28993149	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr18:28993149T>G	ENST00000308128.4	+	16	2849	c.2714T>G	c.(2713-2715)aTt>aGt	p.I905S	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.I924S|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	905					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I905S(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CATGGGGATATTATTGTGACT	0.423																																					p.I905S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2714G	18						.						161.0	151.0	155.0					18																	28993149		2203	4300	6503	27247147	SO:0001583	missense	147409	exon16			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2714T>G	18.37:g.28993149T>G	ENSP00000311859:p.Ile905Ser	Somatic		Capture	SOLID	Phase_I	27247147	NM_177986	A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	T	11.04	1.521647	0.27211	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.78595	-1.19;-1.19	5.5	5.5	0.81552	.	0.000000	0.35179	N	0.003394	T	0.81847	0.4909	L	0.60455	1.87	0.40880	D	0.983984	P;B	0.41450	0.75;0.417	P;B	0.49853	0.624;0.322	D	0.84499	0.0615	10	0.87932	D	0	.	15.2788	0.73764	0.0:0.0:0.0:1.0	.	924;905	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	S	905;924	ENSP00000311859:I905S;ENSP00000352785:I924S	ENSP00000311859:I905S	I	+	2	0	DSG4	27247147	1.000000	0.71417	0.994000	0.49952	0.082000	0.17680	3.903000	0.56318	2.089000	0.63090	0.533000	0.62120	ATT		0.423	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986	
B4GALT6	9331	hgsc.bcm.edu	37	18	29205685	29205685	+	Silent	SNP	G	G	A	rs375001901		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr18:29205685G>A	ENST00000306851.5	-	9	1337	c.1041C>T	c.(1039-1041)atC>atT	p.I347I	B4GALT6_ENST00000383131.3_Silent_p.I308I|B4GALT6_ENST00000237019.7_Silent_p.I308I	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	347					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)	p.I347I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			TCAGTCCATCGATGTACTGAC	0.333													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18574	0.0		0.0	False		,,,				2504	0.0				p.I347I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1041T	18						.	G		1,4405	2.1+/-5.4	0,1,2202	85.0	84.0	85.0		1041	-0.8	1.0	18		85	0,8598		0,0,4299	no	coding-synonymous	B4GALT6	NM_004775.3		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		347/383	29205685	1,13003	2203	4299	6502	27459683	SO:0001819	synonymous_variant	9331	exon9			AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"""Beta 4-glycosyltransferases"""	929	protein-coding gene	gene with protein product	"""UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"""	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.1041C>T	18.37:g.29205685G>A		Somatic		Capture	SOLID	Phase_I	27459683	NM_004775	O60514|Q6NT09	Silent	SNP	ENST00000306851.5	37	CCDS11900.1																																																																																				0.333	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254942.2	NM_004775	
MOCOS	55034	hgsc.bcm.edu	37	18	33780039	33780039	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr18:33780039G>A	ENST00000261326.5	+	4	714	c.693G>A	c.(691-693)ggG>ggA	p.G231G		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase									p.G231G(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GCACGCCTGGGAAGTGGTTTG	0.557																																					p.G231G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G693A	18						.						90.0	87.0	88.0					18																	33780039		2203	4300	6503	32034037	SO:0001819	synonymous_variant	55034	exon4			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.693G>A	18.37:g.33780039G>A		Somatic		Capture	SOLID	Phase_I	32034037	NM_017947		Silent	SNP	ENST00000261326.5	37	CCDS11919.1																																																																																				0.557	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1		
PIK3C3	5289	hgsc.bcm.edu	37	18	39576650	39576650	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr18:39576650G>A	ENST00000262039.4	+	9	1026	c.940G>A	c.(940-942)Gat>Aat	p.D314N	PIK3C3_ENST00000398870.3_Missense_Mutation_p.D251N	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	314	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.D314Y(1)|p.D314N(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TGAAGAACAAGATCTTGTTTG	0.264										TSP Lung(28;0.18)																											p.D314N	NSCLC(37;552 1060 2683 16430 37914)											.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G940A	18						.						79.0	86.0	84.0					18																	39576650		2202	4276	6478	37830648	SO:0001583	missense	5289	exon9			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.940G>A	18.37:g.39576650G>A	ENSP00000262039:p.Asp314Asn	Somatic		Capture	SOLID	Phase_I	37830648	NM_002647	Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805999	0.90623	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.63417	-0.04;-0.04	5.36	5.36	0.76844	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58163	0.2103	L	0.48218	1.51	0.80722	D	1	P;P	0.41214	0.571;0.742	B;B	0.38755	0.09;0.281	T	0.57556	-0.7791	9	.	.	.	.	19.0733	0.93148	0.0:0.0:1.0:0.0	.	251;314	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	N	314;251	ENSP00000262039:D314N;ENSP00000381845:D251N	.	D	+	1	0	PIK3C3	37830648	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.345000	0.79337	2.507000	0.84556	0.467000	0.42956	GAT		0.264	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647	
SLC14A2	8170	hgsc.bcm.edu	37	18	43243841	43243841	+	Silent	SNP	C	C	T	rs369753089		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr18:43243841C>T	ENST00000255226.6	+	11	2259	c.1443C>T	c.(1441-1443)atC>atT	p.I481I	SLC14A2_ENST00000586448.1_Silent_p.I481I|SLC14A2_ENST00000589658.1_5'Flank	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	481					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)	p.I481I(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TATTTCACATCGAGTGGTCAT	0.582																																					p.I481I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1443T	18						.						111.0	72.0	85.0					18																	43243841		2203	4300	6503	41497839	SO:0001819	synonymous_variant	8170	exon11			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1443C>T	18.37:g.43243841C>T		Somatic		Capture	SOLID	Phase_I	41497839	NM_007163	A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	37	CCDS11924.1																																																																																				0.582	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1		
PIAS2	9063	hgsc.bcm.edu	37	18	44400988	44400988	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr18:44400988G>A	ENST00000585916.1	-	12	1555	c.1556C>T	c.(1555-1557)tCg>tTg	p.S519L	PIAS2_ENST00000545673.1_Missense_Mutation_p.S229L|PIAS2_ENST00000324794.7_Missense_Mutation_p.S519L	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	519					androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.S519L(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						AGGATCAACCGAAGTCACACT	0.448																																					p.S519L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1556T	18						.						222.0	190.0	201.0					18																	44400988		2203	4300	6503	42654986	SO:0001583	missense	9063	exon12			AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"""Zinc fingers, MIZ-type"""	17311	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 4"""	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.1556C>T	18.37:g.44400988G>A	ENSP00000465676:p.Ser519Leu	Somatic		Capture	SOLID	Phase_I	42654986	NM_173206	O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	ENST00000585916.1	37	CCDS32824.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192791	0.58017	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000545673;ENST00000324794	T;T	0.46063	0.88;1.45	5.76	4.88	0.63580	.	0.485781	0.22326	N	0.061533	T	0.36441	0.0967	L	0.36672	1.1	0.80722	D	1	B;B;B	0.28082	0.2;0.148;0.012	B;B;B	0.26969	0.075;0.039;0.002	T	0.21965	-1.0230	10	0.72032	D	0.01	-0.1011	15.2294	0.73374	0.0:0.266:0.734:0.0	.	229;519;519	B4DGW0;O75928-2;O75928	.;.;PIAS2_HUMAN	L	519;519;229;519	ENSP00000443238:S229L;ENSP00000317163:S519L	ENSP00000262161:S519L	S	-	2	0	PIAS2	42654986	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.657000	0.67996	1.421000	0.47157	0.650000	0.86243	TCG		0.448	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	NM_004671	
SMAD4	4089	hgsc.bcm.edu	37	18	48573513	48573513	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr18:48573513G>T	ENST00000342988.3	+	2	635	c.97G>T	c.(97-99)Gaa>Taa	p.E33*	RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_Nonsense_Mutation_p.E33*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.E33*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.E33*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	33	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(5)|p.E33*(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGAGAGAGTGAAACATTTGC	0.358																																					p.E33X												.	.	42	Whole gene deletion(36)|Unknown(5)|Substitution - Nonsense(1)	pancreas(26)|large_intestine(4)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|oesophagus(1)|NS(1)	c.G97T	18						.						130.0	123.0	126.0					18																	48573513		2203	4300	6503	46827511	SO:0001587	stop_gained	4089	exon2			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.97G>T	18.37:g.48573513G>T	ENSP00000341551:p.Glu33*	Somatic		Capture	SOLID	Phase_I	46827511	NM_005359	A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	43	9.936356	0.99299	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9469	0.92625	0.0:0.0:1.0:0.0	.	.	.	.	X	33	.	ENSP00000341551:E33X	E	+	1	0	SMAD4	46827511	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.774000	0.95407	0.655000	0.94253	GAA		0.358	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	
ZBTB14	7541	hgsc.bcm.edu	37	18	5291189	5291189	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr18:5291189T>G	ENST00000357006.4	-	4	1356	c.1018A>C	c.(1018-1020)Aaa>Caa	p.K340Q	ZBTB14_ENST00000400143.3_Missense_Mutation_p.K340Q	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	340					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.K340Q(1)									ATAAATGATTTTCCACACACC	0.438																																					p.K340Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1018C	18						.						160.0	156.0	157.0					18																	5291189		2203	4300	6503	5281189	SO:0001583	missense	7541	exon3			D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12860	protein-coding gene	gene with protein product		602126	"""zinc finger protein 161 homolog (mouse)"", ""zinc finger protein 161"", ""ZFP161 zinc finger protein"""	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.1018A>C	18.37:g.5291189T>G	ENSP00000349503:p.Lys340Gln	Somatic		Capture	SOLID	Phase_I	5281189	NM_003409	O00403|Q2TB80	Missense_Mutation	SNP	ENST00000357006.4	37	CCDS11837.1	.	.	.	.	.	.	.	.	.	.	T	19.84	3.902084	0.72754	.	.	ENSG00000198081	ENST00000357006;ENST00000400143	T;T	0.27256	1.68;1.68	5.8	5.8	0.92144	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.54983	0.1892	M	0.83118	2.625	0.80722	D	1	D	0.69078	0.997	D	0.71870	0.975	T	0.61554	-0.7039	10	0.87932	D	0	-22.2742	16.143	0.81539	0.0:0.0:0.0:1.0	.	340	O43829	ZF161_HUMAN	Q	340	ENSP00000349503:K340Q;ENSP00000383009:K340Q	ENSP00000349503:K340Q	K	-	1	0	ZFP161	5281189	1.000000	0.71417	0.120000	0.21714	0.940000	0.58332	7.980000	0.88113	2.206000	0.71126	0.528000	0.53228	AAA		0.438	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254425.1	NM_003409	
SMAD4	4089	hgsc.bcm.edu	37	18	48604736	48604736	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr18:48604736G>T	ENST00000342988.3	+	12	2096	c.1558G>T	c.(1558-1560)Gaa>Taa	p.E520*	SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.E424*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.E520*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	520	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.E520*(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GAGCATCAAAGAAACACCTTG	0.488																																					p.E520X												.	.	39	Whole gene deletion(36)|Unknown(2)|Substitution - Nonsense(1)	pancreas(26)|large_intestine(4)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	c.G1558T	18						.						98.0	94.0	96.0					18																	48604736		2203	4300	6503	46858734	SO:0001587	stop_gained	4089	exon12			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1558G>T	18.37:g.48604736G>T	ENSP00000341551:p.Glu520*	Somatic		Capture	SOLID	Phase_I	46858734	NM_005359	A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	42	9.212720	0.99101	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	.	.	.	6.08	5.21	0.72293	.	0.097880	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	14.5385	0.67979	0.0714:0.0:0.9286:0.0	.	.	.	.	X	520	.	ENSP00000341551:E520X	E	+	1	0	SMAD4	46858734	1.000000	0.71417	0.986000	0.45419	0.978000	0.69477	7.414000	0.80117	1.582000	0.49881	0.655000	0.94253	GAA		0.488	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	
SERPINB7	8710	hgsc.bcm.edu	37	18	61463518	61463518	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr18:61463518G>T	ENST00000398019.2	+	5	680	c.355G>T	c.(355-357)Gaa>Taa	p.E119*	SERPINB7_ENST00000336429.2_Nonsense_Mutation_p.E119*|SERPINB7_ENST00000546027.1_Nonsense_Mutation_p.E119*|SERPINB7_ENST00000540675.1_Nonsense_Mutation_p.E102*	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	119					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E119*(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TGAGTGTGCCGAAAAATTATA	0.308																																					p.E119X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G355T	18						.						77.0	77.0	77.0					18																	61463518		2203	4299	6502	59614498	SO:0001587	stop_gained	8710	exon5			AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.355G>T	18.37:g.61463518G>T	ENSP00000381101:p.Glu119*	Somatic		Capture	SOLID	Phase_I	59614498	NM_001040147	B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Nonsense_Mutation	SNP	ENST00000398019.2	37	CCDS11988.1	.	.	.	.	.	.	.	.	.	.	G	9.264	1.043956	0.19748	.	.	ENSG00000166396	ENST00000425392;ENST00000336429;ENST00000398019;ENST00000540675;ENST00000447428;ENST00000546027;ENST00000431370	.	.	.	5.56	-0.441	0.12257	.	0.519798	0.17727	N	0.164006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.8222	0.18534	0.4304:0.2357:0.3339:0.0	.	.	.	.	X	119;119;119;102;119;119;119	.	ENSP00000337212:E119X	E	+	1	0	SERPINB7	59614498	0.011000	0.17503	0.543000	0.28128	0.027000	0.11550	0.050000	0.14120	-0.308000	0.08792	-1.825000	0.00597	GAA		0.308	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784	
PTPRM	5797	hgsc.bcm.edu	37	18	8387130	8387130	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr18:8387130G>A	ENST00000332175.8	+	29	5103	c.4066G>A	c.(4066-4068)Gac>Aac	p.D1356N	PTPRM_ENST00000400053.4_Missense_Mutation_p.D1294N|PTPRM_ENST00000400060.4_Missense_Mutation_p.D1370N|PTPRM_ENST00000580170.1_Missense_Mutation_p.D1369N|PTPRM_ENST00000444013.1_Missense_Mutation_p.D1143N	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1356	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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.D1356N(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)				GATGTACAGGGACACACCAGT	0.547																																					p.D1356N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4066A	18						.						158.0	133.0	141.0					18																	8387130		2203	4300	6503	8377130	SO:0001583	missense	5797	exon29			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.4066G>A	18.37:g.8387130G>A	ENSP00000331418:p.Asp1356Asn	Somatic		Capture	SOLID	Phase_I	8377130	NM_002845	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	36	5.611869	0.96637	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	5.28	5.28	0.74379	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.105674	0.64402	D	0.000006	T	0.34164	0.0888	L	0.52573	1.65	0.80722	D	1	D;P;D	0.76494	0.969;0.951;0.999	D;P;D	0.81914	0.925;0.637;0.995	T	0.01349	-1.1378	10	0.54805	T	0.06	.	19.3361	0.94319	0.0:0.0:1.0:0.0	.	1143;1369;1356	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	N	1356;1370;1294;1143	ENSP00000331418:D1356N;ENSP00000382933:D1370N;ENSP00000382927:D1294N;ENSP00000387608:D1143N	ENSP00000331418:D1356N	D	+	1	0	PTPRM	8377130	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.675000	0.98638	2.644000	0.89710	0.585000	0.79938	GAC		0.547	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1		
TMX3	54495	hgsc.bcm.edu	37	18	66369004	66369004	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr18:66369004G>A	ENST00000299608.2	-	5	605	c.289C>T	c.(289-291)Cga>Tga	p.R97*	TMX3_ENST00000562706.1_Nonsense_Mutation_p.R97*|TMX3_ENST00000443099.2_Nonsense_Mutation_p.R97*	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	97	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)	p.R97*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						GGATAACCTCGAACTCCAAAC	0.279																																					p.R97X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C289T	18						.						80.0	77.0	78.0					18																	66369004		2203	4299	6502	64519984	SO:0001587	stop_gained	54495	exon5			BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"""Protein disulfide isomerases"""	24718	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 13"""		"""thioredoxin domain containing 10"""	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.289C>T	18.37:g.66369004G>A	ENSP00000299608:p.Arg97*	Somatic		Capture	SOLID	Phase_I	64519984	NM_019022	B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Nonsense_Mutation	SNP	ENST00000299608.2	37	CCDS32840.1	.	.	.	.	.	.	.	.	.	.	G	34	5.403875	0.96051	.	.	ENSG00000166479	ENST00000299608;ENST00000544714;ENST00000443099	.	.	.	5.57	4.65	0.58169	.	0.053012	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2409	0.59995	0.0:0.0:0.7415:0.2585	.	.	.	.	X	97	.	ENSP00000299608:R97X	R	-	1	2	TMX3	64519984	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.410000	0.52664	2.772000	0.95346	0.650000	0.86243	CGA		0.279	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022	
SPICE1	152185	hgsc.bcm.edu	37	3	113176071	113176071	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:113176071C>A	ENST00000295872.4	-	13	1828	c.1569G>T	c.(1567-1569)aaG>aaT	p.K523N		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	523					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)		p.K523N(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						CTGGAAAATTCTTGGCCAGAT	0.458																																					p.K523N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1569T	3						.						97.0	95.0	95.0					3																	113176071		2203	4300	6503	114658761	SO:0001583	missense	152185	exon13			AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.1569G>T	3.37:g.113176071C>A	ENSP00000295872:p.Lys523Asn	Somatic		Capture	SOLID	Phase_I	114658761	NM_144718	D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.535143	0.00942	.	.	ENSG00000163611	ENST00000295872	T	0.29655	1.56	5.42	2.59	0.31030	.	1.107540	0.06473	N	0.731449	T	0.11580	0.0282	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.32508	-0.9904	10	0.18710	T	0.47	3.1018	4.5449	0.12076	0.0864:0.1592:0.6031:0.1513	.	419;523	B3KX77;Q8N0Z3	.;SPICE_HUMAN	N	523	ENSP00000295872:K523N	ENSP00000295872:K523N	K	-	3	2	SPICE1	114658761	0.093000	0.21703	0.000000	0.03702	0.018000	0.09664	1.543000	0.36147	0.241000	0.21283	-1.099000	0.02127	AAG		0.458	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718	
DRD3	1814	hgsc.bcm.edu	37	3	113850076	113850076	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:113850076G>A	ENST00000460779.1	-	7	1184	c.895C>T	c.(895-897)Cga>Tga	p.R299*	DRD3_ENST00000295881.7_Intron|DRD3_ENST00000467632.1_Nonsense_Mutation_p.R299*|DRD3_ENST00000383673.2_Nonsense_Mutation_p.R299*	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	299					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)	p.R299*(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTGAGTTTTCGAACTTCTAAG	0.532																																					p.R299X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C895T	3						.						181.0	186.0	185.0					3																	113850076		2203	4300	6503	115332766	SO:0001587	stop_gained	1814	exon6				CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.895C>T	3.37:g.113850076G>A	ENSP00000419402:p.Arg299*	Somatic		Capture	SOLID	Phase_I	115332766	NM_000796	A1A4V5|Q4VBM8	Nonsense_Mutation	SNP	ENST00000460779.1	37	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	G	39	7.542078	0.98348	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673	.	.	.	5.52	5.52	0.82312	.	0.080056	0.50627	D	0.000104	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	19.2361	0.93861	0.0:0.0:1.0:0.0	.	.	.	.	X	299	.	ENSP00000373169:R299X	R	-	1	2	DRD3	115332766	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.794000	0.69067	2.866000	0.98385	0.650000	0.86243	CGA		0.532	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3	
GOLGB1	2804	hgsc.bcm.edu	37	3	121448179	121448179	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:121448179T>G	ENST00000340645.5	-	4	383	c.258A>C	c.(256-258)agA>agC	p.R86S	GOLGB1_ENST00000472829.1_5'UTR|GOLGB1_ENST00000393667.3_Missense_Mutation_p.R86S	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	86					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.R86S(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CAGCAGCTTTTCTCTCTTCCT	0.299																																					p.R86S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A258C	3						.						86.0	92.0	90.0					3																	121448179		2203	4300	6503	122930869	SO:0001583	missense	2804	exon4			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.258A>C	3.37:g.121448179T>G	ENSP00000341848:p.Arg86Ser	Somatic		Capture	SOLID	Phase_I	122930869	NM_004487	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.541|7.541	0.660766|0.660766	0.14645|0.14645	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000489400|ENST00000340645;ENST00000393667;ENST00000494517	.|T;T;T	.|0.28666	.|2.27;2.27;1.6	5.48|5.48	4.33|4.33	0.51752|0.51752	.|.	.|0.196730	.|0.34156	.|N	.|0.004213	T|T	0.31827|0.31827	0.0809|0.0809	M|M	0.66939|0.66939	2.045|2.045	0.23271|0.23271	N|N	0.998009|0.998009	.|P;P;P;P;P	.|0.46142	.|0.873;0.873;0.873;0.873;0.873	.|B;B;B;B;B	.|0.42361	.|0.306;0.385;0.306;0.306;0.306	T|T	0.21759|0.21759	-1.0236|-1.0236	5|10	.|0.42905	.|T	.|0.14	.|.	8.2554|8.2554	0.31754|0.31754	0.0:0.0905:0.0:0.9095|0.0:0.0905:0.0:0.9095	.|.	.|47;86;86;86;86	.|F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.|.;.;.;.;GOGB1_HUMAN	A|S	32|86	.|ENSP00000341848:R86S;ENSP00000377275:R86S;ENSP00000418231:R86S	.|ENSP00000341848:R86S	E|R	-|-	2|3	0|2	GOLGB1|GOLGB1	122930869|122930869	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.051000|0.051000	0.14879|0.14879	0.789000|0.789000	0.26886|0.26886	1.024000|1.024000	0.39682|0.39682	0.482000|0.482000	0.46254|0.46254	GAA|AGA		0.299	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487	
SLC15A2	6565	hgsc.bcm.edu	37	3	121650527	121650527	+	Missense_Mutation	SNP	C	C	A	rs552479039		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:121650527C>A	ENST00000489711.1	+	19	2094	c.1706C>A	c.(1705-1707)tCt>tAt	p.S569Y	SLC15A2_ENST00000295605.2_Missense_Mutation_p.S538Y	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	569					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)	p.S569Y(1)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	AAGAACTTTTCTCTGAATTTG	0.388																																					p.S538Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1613A	3						.						131.0	126.0	127.0					3																	121650527		2203	4300	6503	123133217	SO:0001583	missense	6565	exon18			BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1706C>A	3.37:g.121650527C>A	ENSP00000417085:p.Ser569Tyr	Somatic		Capture	SOLID	Phase_I	123133217	NM_001145998	A8K1A5|B4E2A7	Missense_Mutation	SNP	ENST00000489711.1	37	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	C	8.102	0.776802	0.16120	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605	T;T	0.03004	4.35;4.08	5.49	0.952	0.19584	.	0.851521	0.10920	N	0.619529	T	0.03739	0.0106	L	0.53249	1.67	0.23430	N	0.997698	B;B	0.21688	0.059;0.052	B;B	0.22880	0.032;0.042	T	0.49062	-0.8978	10	0.10902	T	0.67	-0.685	4.4422	0.11579	0.1806:0.5301:0.0:0.2893	.	538;569	B4E2A7;Q16348	.;S15A2_HUMAN	Y	569;531;538	ENSP00000417085:S569Y;ENSP00000295605:S538Y	ENSP00000295605:S538Y	S	+	2	0	SLC15A2	123133217	0.000000	0.05858	0.993000	0.49108	0.978000	0.69477	-0.560000	0.05964	0.240000	0.21263	0.655000	0.94253	TCT		0.388	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082	
CCDC37	348807	hgsc.bcm.edu	37	3	126137348	126137348	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:126137348C>T	ENST00000352312.1	+	6	565	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	CCDC37_ENST00000505024.1_Missense_Mutation_p.R157W|CCDC37_ENST00000393425.1_Missense_Mutation_p.R157W	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	156								p.R156W(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		TAAGCAGAAGCGGCAAATGTT	0.617																																					p.R156W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C466T	3						.						90.0	87.0	88.0					3																	126137348		2203	4300	6503	127620038	SO:0001583	missense	348807	exon6			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.466C>T	3.37:g.126137348C>T	ENSP00000344749:p.Arg156Trp	Somatic		Capture	SOLID	Phase_I	127620038	NM_182628	D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	ENST00000352312.1	37	CCDS3037.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.372262	0.42003	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.27104	1.69;1.69;1.69	4.67	4.67	0.58626	.	0.065993	0.64402	D	0.000009	T	0.58595	0.2133	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68788	-0.5316	10	0.87932	D	0	-22.5353	15.4309	0.75099	0.0:1.0:0.0:0.0	.	157;156	Q494V2-2;Q494V2	.;CCD37_HUMAN	W	156;157;157	ENSP00000344749:R156W;ENSP00000377076:R157W;ENSP00000423046:R157W	ENSP00000344749:R156W	R	+	1	2	CCDC37	127620038	1.000000	0.71417	0.165000	0.22776	0.019000	0.09904	1.415000	0.34748	2.319000	0.78375	0.591000	0.81541	CGG		0.617	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628	
C3orf22	152065	hgsc.bcm.edu	37	3	126270923	126270923	+	Silent	SNP	G	G	C	rs34760151	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:126270923G>C	ENST00000318225.2	-	3	510	c.132C>G	c.(130-132)ccC>ccG	p.P44P		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	44										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		TGACCTCCCAGGGCTGCAGGG	0.602													G|||	481	0.0960463	0.2685	0.0403	5008	,	,		18751	0.002		0.0288	False		,,,				2504	0.0685				p.P44P												.	.	0			c.C132G	3						.	G		894,3512	348.0+/-309.7	98,698,1407	83.0	77.0	79.0		132	-0.0	0.0	3	dbSNP_126	79	294,8306	108.0+/-168.7	6,282,4012	no	coding-synonymous	C3orf22	NM_152533.1		104,980,5419	CC,CG,GG		3.4186,20.2905,9.1342		44/142	126270923	1188,11818	2203	4300	6503	127753613	SO:0001819	synonymous_variant	152065	exon3				CCDS3040.1	3q21.3	2011-09-30			ENSG00000180697	ENSG00000180697			28534	protein-coding gene	gene with protein product						12477932	Standard	NM_152533		Approved	MGC34728	uc003ejb.3	Q8N5N4	OTTHUMG00000162731	ENST00000318225.2:c.132C>G	3.37:g.126270923G>C		Somatic		Capture	SOLID	Phase_I	127753613	NM_152533	B3KUS9	Silent	SNP	ENST00000318225.2	37	CCDS3040.1																																																																																				0.602	C3orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370231.2	NM_152533	
TMCC1	23023	hgsc.bcm.edu	37	3	129389555	129389555	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:129389555G>A	ENST00000393238.3	-	4	1469	c.1129C>T	c.(1129-1131)Cgg>Tgg	p.R377W	TMCC1_ENST00000426664.2_Missense_Mutation_p.R263W|TMCC1_ENST00000432054.2_Missense_Mutation_p.R53W|TMCC1_ENST00000329333.5_Missense_Mutation_p.R198W	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	377						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.R377W(2)	PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						AATTTGTTCCGAATGAGTGAG	0.517																																					p.R377W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1129T	3						.						75.0	71.0	73.0					3																	129389555		2203	4300	6503	130872245	SO:0001583	missense	23023	exon4			AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1129C>T	3.37:g.129389555G>A	ENSP00000376930:p.Arg377Trp	Somatic		Capture	SOLID	Phase_I	130872245	NM_001017395	A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101024	0.76983	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.21	5.21	0.72293	.	0.049937	0.85682	D	0.000000	T	0.72326	0.3446	M	0.77406	2.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.75744	-0.3210	10	0.87932	D	0	-13.1356	13.9524	0.64126	0.0:0.0:0.811:0.189	.	198;377	B4DE04;O94876	.;TMCC1_HUMAN	W	53;377;263;198	ENSP00000404711:R53W;ENSP00000376930:R377W;ENSP00000389892:R263W;ENSP00000327349:R198W	ENSP00000327349:R198W	R	-	1	2	TMCC1	130872245	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.979000	0.63806	2.581000	0.87130	0.591000	0.81541	CGG		0.517	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008	
PIK3R4	30849	hgsc.bcm.edu	37	3	130449228	130449228	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:130449228T>G	ENST00000356763.3	-	5	2066	c.1509A>C	c.(1507-1509)aaA>aaC	p.K503N		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	503					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K503N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TATTAAGATTTTTTAACTGTA	0.299																																					p.K503N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1509C	3						.						70.0	75.0	73.0					3																	130449228		2203	4297	6500	131931918	SO:0001583	missense	30849	exon5			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.1509A>C	3.37:g.130449228T>G	ENSP00000349205:p.Lys503Asn	Somatic		Capture	SOLID	Phase_I	131931918	NM_014602	Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	T	10.07	1.250755	0.22880	.	.	ENSG00000196455	ENST00000356763	T	0.42900	0.96	4.87	3.71	0.42584	Armadillo-like helical (1);Armadillo-type fold (1);	0.051005	0.85682	D	0.000000	T	0.26011	0.0634	N	0.24115	0.695	0.46044	D	0.99883	B	0.02656	0.0	B	0.04013	0.001	T	0.04991	-1.0913	10	0.15952	T	0.53	-26.2486	10.3977	0.44211	0.0:0.0777:0.0:0.9223	.	503	Q99570	PI3R4_HUMAN	N	503	ENSP00000349205:K503N	ENSP00000349205:K503N	K	-	3	2	PIK3R4	131931918	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.111000	0.50360	0.822000	0.34565	0.383000	0.25322	AAA		0.299	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602	
NPHP3	27031	hgsc.bcm.edu	37	3	132403475	132403475	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:132403475G>A	ENST00000337331.5	-	24	3579	c.3493C>T	c.(3493-3495)Cgg>Tgg	p.R1165W	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1165					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)		p.R1165W(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCACGTCTCCGAATATCTAAA	0.388																																					p.R1165W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3493T	3						.						124.0	121.0	122.0					3																	132403475		2203	4300	6503	133886165	SO:0001583	missense	27031	exon24			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.3493C>T	3.37:g.132403475G>A	ENSP00000338766:p.Arg1165Trp	Somatic		Capture	SOLID	Phase_I	133886165	NM_153240	Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878541	0.51801	.	.	ENSG00000113971	ENST00000393144;ENST00000393156;ENST00000512094;ENST00000337331	T;T	0.76448	-0.05;-1.02	5.66	4.71	0.59529	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.85940	0.5814	M	0.62209	1.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86094	0.1552	10	0.52906	T	0.07	-15.9301	15.7212	0.77710	0.0:0.0:0.8169:0.1831	.	1165;47	Q7Z494;Q7Z491	NPHP3_HUMAN;.	W	445;227;19;1165	ENSP00000427666:R19W;ENSP00000338766:R1165W	ENSP00000338766:R1165W	R	-	1	2	NPHP3	133886165	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	3.730000	0.55006	2.680000	0.91292	0.561000	0.74099	CGG		0.388	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240	
SLCO2A1	6578	hgsc.bcm.edu	37	3	133667522	133667522	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:133667522C>T	ENST00000310926.4	-	8	1236	c.963G>A	c.(961-963)agG>agA	p.R321R	SLCO2A1_ENST00000493729.1_Silent_p.R245R	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	321					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.R321R(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)	TCATCAGGAGCCTCAGAAAGA	0.582																																					p.R321R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G963A	3						.						149.0	144.0	145.0					3																	133667522		2203	4300	6503	135150212	SO:0001819	synonymous_variant	6578	exon8				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.963G>A	3.37:g.133667522C>T		Somatic		Capture	SOLID	Phase_I	135150212	NM_005630	Q86V98|Q8IUN2	Silent	SNP	ENST00000310926.4	37	CCDS3084.1																																																																																				0.582	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630	
CEP63	80254	hgsc.bcm.edu	37	3	134250767	134250767	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:134250767G>T	ENST00000337090.3	+	4	476	c.303G>T	c.(301-303)aaG>aaT	p.K101N	CEP63_ENST00000504013.1_3'UTR|CEP63_ENST00000383229.3_Missense_Mutation_p.K101N|CEP63_ENST00000332047.5_Missense_Mutation_p.K101N|CEP63_ENST00000513612.2_Missense_Mutation_p.K101N|CEP63_ENST00000606977.1_Missense_Mutation_p.K101N|CEP63_ENST00000354446.3_Missense_Mutation_p.K101N			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	101					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)		p.K101N(1)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGGAGTTGAAGAAACTACATG	0.363																																					p.K101N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G303T	3						.						164.0	161.0	162.0					3																	134250767		2203	4300	6503	135733457	SO:0001583	missense	80254	exon5			AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.303G>T	3.37:g.134250767G>T	ENSP00000336524:p.Lys101Asn	Somatic		Capture	SOLID	Phase_I	135733457	NM_025180	D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	CCDS3086.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.519|9.519	1.107877|1.107877	0.20714|0.20714	.|.	.|.	ENSG00000182923|ENSG00000182923	ENST00000332047;ENST00000354446;ENST00000511574;ENST00000337090;ENST00000383229;ENST00000513612|ENST00000508778	T;T;T;T;T;T|.	0.24908|.	1.83;1.83;1.83;1.83;1.83;1.83|.	5.71|5.71	3.85|3.85	0.44370|0.44370	.|.	0.629848|.	0.16941|.	N|.	0.193300|.	T|T	0.51109|0.51109	0.1655|0.1655	L|L	0.56769|0.56769	1.78|1.78	0.29769|0.29769	N|N	0.834891|0.834891	B;P;P;B|.	0.36535|.	0.355;0.546;0.557;0.001|.	B;B;B;B|.	0.36335|.	0.156;0.222;0.104;0.004|.	T|T	0.49523|0.49523	-0.8931|-0.8931	10|5	0.30078|.	T|.	0.28|.	-0.184|-0.184	10.5038|10.5038	0.44821|0.44821	0.0:0.2725:0.5864:0.1412|0.0:0.2725:0.5864:0.1412	.|.	101;101;101;101|.	Q96MT8;Q96MT8-2;Q96MT8-4;Q96MT8-3|.	CEP63_HUMAN;.;.;.|.	N|I	101|26	ENSP00000328382:K101N;ENSP00000346432:K101N;ENSP00000424626:K101N;ENSP00000336524:K101N;ENSP00000372716:K101N;ENSP00000426129:K101N|.	ENSP00000328382:K101N|.	K|R	+|+	3|2	2|0	CEP63|CEP63	135733457|135733457	1.000000|1.000000	0.71417|0.71417	0.914000|0.914000	0.36105|0.36105	0.440000|0.440000	0.31957|0.31957	2.547000|2.547000	0.45786|0.45786	0.712000|0.712000	0.32039|0.32039	0.491000|0.491000	0.48974|0.48974	AAG|AGA		0.363	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180	
SOX14	8403	hgsc.bcm.edu	37	3	137484324	137484324	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:137484324C>T	ENST00000306087.1	+	1	746	c.698C>T	c.(697-699)tCg>tTg	p.S233L		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	233					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S233L(1)		large_intestine(2)|lung(12)	14						GACCCTTATTCGTCAGCCCAC	0.652																																					p.S233L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C698T	3						.						49.0	40.0	43.0					3																	137484324		2186	4263	6449	138967014	SO:0001583	missense	8403	exon1			AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"""SRY (sex determining region Y)-boxes"""	11193	protein-coding gene	gene with protein product	"""HMG box transcription factor SOX-14"", ""SRY-box 14"""	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.698C>T	3.37:g.137484324C>T	ENSP00000305343:p.Ser233Leu	Somatic		Capture	SOLID	Phase_I	138967014	NM_004189	B2RAC0|Q3KPH7	Missense_Mutation	SNP	ENST00000306087.1	37	CCDS3094.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417999	0.42918	.	.	ENSG00000168875	ENST00000306087	D	0.96200	-3.94	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.88250	0.6386	N	0.03608	-0.345	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	D	0.83622	0.0140	10	0.31617	T	0.26	.	17.388	0.87422	0.0:1.0:0.0:0.0	.	233	O95416	SOX14_HUMAN	L	233	ENSP00000305343:S233L	ENSP00000305343:S233L	S	+	2	0	SOX14	138967014	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.602000	0.82796	2.333000	0.79357	0.561000	0.74099	TCG		0.652	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189	
SLC9A9	285195	hgsc.bcm.edu	37	3	143412097	143412097	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:143412097T>G	ENST00000316549.6	-	5	794	c.586A>C	c.(586-588)Aat>Cat	p.N196H		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	196					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.N196H(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						AAGTCTCCATTTTTCAGCTGG	0.348																																					p.N196H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A586C	3						.						103.0	102.0	102.0					3																	143412097		2203	4300	6503	144894787	SO:0001583	missense	285195	exon5			AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.586A>C	3.37:g.143412097T>G	ENSP00000320246:p.Asn196His	Somatic		Capture	SOLID	Phase_I	144894787	NM_173653	A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.436888	0.43224	.	.	ENSG00000181804	ENST00000316549;ENST00000450105	T	0.15603	2.41	5.53	4.37	0.52481	Cation/H+ exchanger (1);	0.501626	0.21336	N	0.076211	T	0.10465	0.0256	N	0.14661	0.345	0.19575	N	0.999963	B	0.32425	0.371	B	0.35770	0.21	T	0.20505	-1.0273	10	0.45353	T	0.12	.	6.5687	0.22527	0.0:0.1414:0.1318:0.7269	.	196	Q8IVB4	SL9A9_HUMAN	H	196;79	ENSP00000320246:N196H	ENSP00000320246:N196H	N	-	1	0	SLC9A9	144894787	0.943000	0.32029	0.989000	0.46669	0.914000	0.54420	1.102000	0.31050	0.934000	0.37316	0.528000	0.53228	AAT		0.348	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653	
WWTR1	25937	hgsc.bcm.edu	37	3	149260151	149260151	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:149260151G>A	ENST00000465804.1	-	5	998	c.742C>T	c.(742-744)Cga>Tga	p.R248*	WWTR1_ENST00000360632.3_Nonsense_Mutation_p.R248*|WWTR1_ENST00000467467.1_Nonsense_Mutation_p.R248*	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	248					cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R248*(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TGGCGCATTCGAATCCTTTCT	0.567			T	CAMTA1	epitheliod hemangioendothelioma																																p.R248X			Dom	yes		3	3q23-q24	607392	WW domain containing transcription regulator 1		M	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C742T	3						.						127.0	112.0	117.0					3																	149260151		2203	4300	6503	150742841	SO:0001587	stop_gained	25937	exon4			AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.742C>T	3.37:g.149260151G>A	ENSP00000419465:p.Arg248*	Somatic		Capture	SOLID	Phase_I	150742841	NM_015472	D3DNH7|Q8N3P2|Q9Y3W6	Nonsense_Mutation	SNP	ENST00000465804.1	37	CCDS3144.1	.	.	.	.	.	.	.	.	.	.	G	37	6.559674	0.97663	.	.	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000472417	.	.	.	5.26	-6.86	0.01676	.	0.132373	0.43919	D	0.000515	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.4219	23.0233	0.99978	0.0:0.0:0.1691:0.8309	.	.	.	.	X	248;248;248;106	.	ENSP00000353847:R248X	R	-	1	2	WWTR1	150742841	0.002000	0.14202	0.011000	0.14972	0.995000	0.86356	-1.029000	0.03585	-1.698000	0.01418	-0.274000	0.10170	CGA		0.567	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472	
ERICH6	131831	hgsc.bcm.edu	37	3	150398265	150398265	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:150398265G>T	ENST00000295910.6	-	9	1153	c.1101C>A	c.(1099-1101)ttC>ttA	p.F367L	FAM194A_ENST00000491361.1_Missense_Mutation_p.F221L	NM_152394.3	NP_689607.2												p.F367L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CATCTTCAGAGAAATGAGTCT	0.373																																					p.F367L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1101A	3						.						197.0	176.0	183.0					3																	150398265		2203	4300	6503	151880955	SO:0001583	missense	131831	exon9																														ENST00000295910.6:c.1101C>A	3.37:g.150398265G>T	ENSP00000295910:p.Phe367Leu	Somatic		Capture	SOLID	Phase_I	151880955	NM_152394		Missense_Mutation	SNP	ENST00000295910.6	37	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	G	7.640	0.680745	0.14907	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.15718	2.63;2.4	3.8	-2.39	0.06602	.	3.012910	0.01149	N	0.006373	T	0.16085	0.0387	L	0.53249	1.67	0.09310	N	1	B	0.20671	0.047	B	0.18561	0.022	T	0.16630	-1.0396	10	0.27082	T	0.32	0.0062	4.316	0.10993	0.5102:0.0:0.3234:0.1665	.	367	Q7L0X2	F194A_HUMAN	L	367;221;325	ENSP00000295910:F367L;ENSP00000419366:F221L	ENSP00000295910:F367L	F	-	3	2	FAM194A	151880955	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.156000	0.03160	-0.586000	0.05898	0.563000	0.77884	TTC		0.373	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1		
GPR87	53836	hgsc.bcm.edu	37	3	151012145	151012145	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:151012145C>A	ENST00000260843.4	-	3	1353	c.889G>T	c.(889-891)Gaa>Taa	p.E297*	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	297					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.E297*(1)|p.E297Q(1)		endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGTGTAATTTCTTTGCAGTAA	0.333																																					p.E297X												.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(1)|lung(1)	c.G889T	3						.						101.0	105.0	103.0					3																	151012145		2203	4300	6503	152494835	SO:0001587	stop_gained	53836	exon3			AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"""GPCR / Class A : Orphans"""	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.889G>T	3.37:g.151012145C>A	ENSP00000260843:p.Glu297*	Somatic		Capture	SOLID	Phase_I	152494835	NM_023915	Q5KU35|Q96JZ8|Q9BXC2	Nonsense_Mutation	SNP	ENST00000260843.4	37	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	C	39	7.313198	0.98203	.	.	ENSG00000138271	ENST00000260843	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-12.03	19.2508	0.93925	0.0:1.0:0.0:0.0	.	.	.	.	X	297	.	ENSP00000260843:E297X	E	-	1	0	GPR87	152494835	1.000000	0.71417	0.996000	0.52242	0.964000	0.63967	3.651000	0.54431	2.719000	0.93026	0.655000	0.94253	GAA		0.333	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1		
BTD	686	hgsc.bcm.edu	37	3	15676933	15676933	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:15676933T>G	ENST00000303498.5	+	2	156	c.47T>G	c.(46-48)tTt>tGt	p.F16C	BTD_ENST00000482824.1_3'UTR|BTD_ENST00000437172.1_Missense_Mutation_p.F18C|BTD_ENST00000383778.4_5'UTR|BTD_ENST00000449107.1_Missense_Mutation_p.F18C	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	16					biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)	p.F16C(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						CATTCCAGATTTGTGGTCTGC	0.478																																					p.F16C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T47G	3						.						173.0	172.0	173.0					3																	15676933		2203	4300	6503	15651937	SO:0001583	missense	686	exon2			AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.47T>G	3.37:g.15676933T>G	ENSP00000306477:p.Phe16Cys	Somatic		Capture	SOLID	Phase_I	15651937	NM_000060	A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Missense_Mutation	SNP	ENST00000303498.5	37	CCDS2628.1	.	.	.	.	.	.	.	.	.	.	T	12.94	2.087367	0.36855	.	.	ENSG00000169814	ENST00000449107;ENST00000303498;ENST00000437172	D;D;D	0.90732	-2.72;-2.71;-2.72	4.72	2.27	0.28462	.	1.722310	0.03522	N	0.221123	T	0.82116	0.4967	N	0.08118	0	0.80722	D	1	B;B;B	0.13594	0.008;0.008;0.008	B;B;B	0.14578	0.006;0.011;0.011	T	0.64964	-0.6283	10	0.52906	T	0.07	-20.3601	7.3034	0.26434	0.0:0.0762:0.1456:0.7782	.	18;18;16	A6NHF2;B4DLJ9;P43251	.;.;BTD_HUMAN	C	18;16;18	ENSP00000388212:F18C;ENSP00000306477:F16C;ENSP00000400995:F18C	ENSP00000306477:F16C	F	+	2	0	BTD	15651937	0.832000	0.29368	0.176000	0.23000	0.993000	0.82548	1.191000	0.32138	0.194000	0.20326	0.454000	0.30748	TTT		0.478	BTD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252103.2	NM_000060	
MED12L	116931	hgsc.bcm.edu	37	3	151093868	151093868	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:151093868G>T	ENST00000474524.1	+	26	3852	c.3814G>T	c.(3814-3816)Gaa>Taa	p.E1272*	MED12L_ENST00000273432.4_Nonsense_Mutation_p.E1132*|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1272						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.E1272*(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TACAGACAAAGAACTTATATT	0.388																																					p.E1272X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3814T	3						.						88.0	97.0	94.0					3																	151093868		2203	4300	6503	152576558	SO:0001587	stop_gained	116931	exon26			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.3814G>T	3.37:g.151093868G>T	ENSP00000417235:p.Glu1272*	Somatic		Capture	SOLID	Phase_I	152576558	NM_053002	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Nonsense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	43	10.362068	0.99391	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	.	.	.	5.9	5.9	0.94986	.	0.149414	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-28.1945	13.1278	0.59364	0.0732:0.0:0.9268:0.0	.	.	.	.	X	1272;1132	.	ENSP00000273432:E1132X	E	+	1	0	MED12L	152576558	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.976000	0.56867	2.788000	0.95919	0.650000	0.86243	GAA		0.388	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002	
VEPH1	79674	hgsc.bcm.edu	37	3	157082125	157082125	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:157082125G>T	ENST00000362010.2	-	8	1611	c.1304C>A	c.(1303-1305)tCt>tAt	p.S435Y	VEPH1_ENST00000392832.2_Missense_Mutation_p.S435Y|VEPH1_ENST00000543418.1_Missense_Mutation_p.S435Y|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392833.2_Missense_Mutation_p.S435Y	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	435						plasma membrane (GO:0005886)		p.S435Y(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TTCTTCTTTAGAAACTTGGCC	0.348																																					p.S435Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1304A	3						.						93.0	94.0	94.0					3																	157082125		2203	4300	6503	158564819	SO:0001583	missense	79674	exon8			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1304C>A	3.37:g.157082125G>T	ENSP00000354919:p.Ser435Tyr	Somatic		Capture	SOLID	Phase_I	158564819	NM_001167912	D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711632	0.68730	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.10573	2.86;2.9;2.86;2.9	5.71	4.83	0.62350	.	0.316637	0.34314	N	0.004062	T	0.15998	0.0385	L	0.29908	0.895	0.80722	D	1	P;P	0.47253	0.892;0.828	P;B	0.50537	0.643;0.44	T	0.01337	-1.1381	10	0.62326	D	0.03	1.2127	16.7495	0.85481	0.0:0.1293:0.8707:0.0	.	435;435	Q14D04-2;Q14D04	.;MELT_HUMAN	Y	435	ENSP00000376578:S435Y;ENSP00000354919:S435Y;ENSP00000446258:S435Y;ENSP00000376577:S435Y	ENSP00000354919:S435Y	S	-	2	0	VEPH1	158564819	1.000000	0.71417	0.958000	0.39756	0.861000	0.49209	4.194000	0.58393	1.402000	0.46780	0.650000	0.86243	TCT		0.348	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621	
GFM1	85476	hgsc.bcm.edu	37	3	158407978	158407978	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:158407978C>A	ENST00000486715.1	+	16	2293	c.1936C>A	c.(1936-1938)Ctt>Att	p.L646I	RP11-379F4.7_ENST00000607624.1_lincRNA|GFM1_ENST00000264263.5_Missense_Mutation_p.L665I	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1									p.L646I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			ATTATGTATTCTTGAACCTAT	0.378																																					p.L646I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1936A	3						.						112.0	118.0	116.0					3																	158407978		2203	4300	6503	159890672	SO:0001583	missense	85476	exon16			AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"""G translation elongation factor, mitochondrial"""			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.1936C>A	3.37:g.158407978C>A	ENSP00000419038:p.Leu646Ile	Somatic		Capture	SOLID	Phase_I	159890672	NM_024996		Missense_Mutation	SNP	ENST00000486715.1	37	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392598	0.62066	.	.	ENSG00000168827	ENST00000486715;ENST00000264263	T;T	0.69926	-0.44;-0.44	5.9	3.02	0.34903	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (2);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.222122	0.39544	N	0.001336	T	0.75561	0.3866	M	0.89287	3.02	0.80722	D	1	B;B	0.29253	0.239;0.134	B;B	0.37989	0.214;0.262	T	0.75684	-0.3232	10	0.59425	D	0.04	-12.0717	14.9888	0.71371	0.3835:0.6165:0.0:0.0	.	665;646	Q96RP9-2;Q96RP9	.;EFGM_HUMAN	I	646;665	ENSP00000419038:L646I;ENSP00000264263:L665I	ENSP00000264263:L665I	L	+	1	0	GFM1	159890672	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	3.003000	0.49505	0.334000	0.23590	0.650000	0.86243	CTT		0.378	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996	
SI	6476	hgsc.bcm.edu	37	3	164737504	164737504	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:164737504C>T	ENST00000264382.3	-	28	3371	c.3309G>A	c.(3307-3309)tcG>tcA	p.S1103S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1103	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.S1103S(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GCAGGCGAGTCGATATTTGAA	0.383										HNSCC(35;0.089)																											p.S1103S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3309A	3						.						91.0	90.0	91.0					3																	164737504		2203	4299	6502	166220198	SO:0001819	synonymous_variant	6476	exon28			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3309G>A	3.37:g.164737504C>T		Somatic		Capture	SOLID	Phase_I	166220198	NM_001041	A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	CCDS3196.1																																																																																				0.383	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	
SLITRK3	22865	hgsc.bcm.edu	37	3	164906791	164906791	+	Missense_Mutation	SNP	G	G	T	rs146099233		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:164906791G>T	ENST00000475390.1	-	2	2271	c.1828C>A	c.(1828-1830)Ctt>Att	p.L610I	SLITRK3_ENST00000241274.3_Missense_Mutation_p.L610I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	610	LRRCT 2.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.L610I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCTGGGCAAAGAACTTCCAGC	0.542										HNSCC(40;0.11)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		18598	0.0		0.0	False		,,,				2504	0.0				p.L610I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1828A	3						.						58.0	55.0	56.0					3																	164906791		2203	4300	6503	166389485	SO:0001583	missense	22865	exon2			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1828C>A	3.37:g.164906791G>T	ENSP00000420091:p.Leu610Ile	Somatic		Capture	SOLID	Phase_I	166389485	NM_014926	Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	CCDS3197.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	2.056	-0.416657	0.04766	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.54279	0.58;0.58	5.76	2.94	0.34122	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.30302	N	0.009931	T	0.34890	0.0913	N	0.25825	0.765	0.25655	N	0.986067	B	0.19445	0.036	B	0.15052	0.012	T	0.15780	-1.0425	10	0.25751	T	0.34	-11.1756	9.0005	0.36079	0.3654:0.0:0.6346:0.0	.	610	O94933	SLIK3_HUMAN	I	610	ENSP00000420091:L610I;ENSP00000241274:L610I	ENSP00000241274:L610I	L	-	1	0	SLITRK3	166389485	0.198000	0.23374	0.829000	0.32907	0.884000	0.51177	0.486000	0.22340	0.870000	0.35726	0.655000	0.94253	CTT		0.542	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926	
PRKCI	5584	hgsc.bcm.edu	37	3	170013719	170013719	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:170013719C>T	ENST00000295797.4	+	15	1743	c.1438C>T	c.(1438-1440)Cgc>Tgc	p.R480C		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	480	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.R471C(3)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	AAAACAAATTCGCATACCACG	0.274																																					p.R480C												.	.	3	Substitution - Missense(3)	large_intestine(2)|ovary(1)	c.C1438T	3						.						61.0	66.0	64.0					3																	170013719		2202	4298	6500	171496413	SO:0001583	missense	5584	exon15				CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1438C>T	3.37:g.170013719C>T	ENSP00000295797:p.Arg480Cys	Somatic		Capture	SOLID	Phase_I	171496413	NM_002740	D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	37	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726514	0.69074	.	.	ENSG00000163558	ENST00000295797	T	0.53423	0.62	5.29	4.36	0.52297	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.099543	0.64402	D	0.000002	T	0.63486	0.2515	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.65443	0.935	T	0.63010	-0.6732	9	.	.	.	.	15.8416	0.78848	0.1359:0.8641:0.0:0.0	.	480	P41743	KPCI_HUMAN	C	480	ENSP00000295797:R480C	.	R	+	1	0	PRKCI	171496413	0.997000	0.39634	0.997000	0.53966	0.999000	0.98932	2.225000	0.42954	2.621000	0.88768	0.655000	0.94253	CGC		0.274	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740	
MCCC1	56922	hgsc.bcm.edu	37	3	182735094	182735094	+	Missense_Mutation	SNP	G	G	A	rs138937107		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:182735094G>A	ENST00000265594.4	-	18	2155	c.2009C>T	c.(2008-2010)gCg>gTg	p.A670V	MCCC1_ENST00000539926.1_3'UTR|MCCC1_ENST00000492597.1_Missense_Mutation_p.A561V|MCCC1-AS1_ENST00000471731.2_RNA	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	670	Biotinyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)	p.A670V(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	GGAATCTCCCGCTTTCACTTT	0.408													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18882	0.0		0.0	False		,,,				2504	0.0				p.A670V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2009T	3						.	G	VAL/ALA	6,4400	11.4+/-27.6	0,6,2197	194.0	173.0	180.0		2009	5.8	1.0	3	dbSNP_134	180	0,8600		0,0,4300	yes	missense	MCCC1	NM_020166.3	64	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	benign	670/726	182735094	6,13000	2203	4300	6503	184217788	SO:0001583	missense	56922	exon18			AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.2009C>T	3.37:g.182735094G>A	ENSP00000265594:p.Ala670Val	Somatic		Capture	SOLID	Phase_I	184217788	NM_020166	Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272060	0.59649	0.001362	0.0	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616	T;T	0.60424	0.19;0.19	5.81	5.81	0.92471	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.386872	0.31936	N	0.006823	T	0.50701	0.1631	L	0.52823	1.66	0.80722	D	1	B;B	0.15930	0.006;0.015	B;B	0.15870	0.005;0.014	T	0.48592	-0.9022	10	0.45353	T	0.12	.	9.006	0.36111	0.1564:0.0:0.8436:0.0	.	561;670	E9PHF7;Q96RQ3	.;MCCA_HUMAN	V	670;561;520	ENSP00000265594:A670V;ENSP00000419898:A561V	ENSP00000265594:A670V	A	-	2	0	MCCC1	184217788	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	2.801000	0.47908	2.756000	0.94617	0.655000	0.94253	GCG		0.408	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166	
EIF4G1	1981	hgsc.bcm.edu	37	3	184038427	184038427	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:184038427C>T	ENST00000346169.2	+	8	818	c.547C>T	c.(547-549)Cga>Tga	p.R183*	EIF4G1_ENST00000411531.1_Nonsense_Mutation_p.R143*|EIF4G1_ENST00000342981.4_Nonsense_Mutation_p.R183*|EIF4G1_ENST00000319274.6_Nonsense_Mutation_p.R183*|EIF4G1_ENST00000392537.2_Nonsense_Mutation_p.R96*|EIF4G1_ENST00000382330.3_Nonsense_Mutation_p.R190*|EIF4G1_ENST00000435046.2_5'Flank|EIF4G1_ENST00000441154.1_Nonsense_Mutation_p.R19*|EIF4G1_ENST00000427845.1_Nonsense_Mutation_p.R96*|EIF4G1_ENST00000414031.1_Nonsense_Mutation_p.R143*|EIF4G1_ENST00000352767.3_Nonsense_Mutation_p.R190*|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000424196.1_Nonsense_Mutation_p.R190*|EIF4G1_ENST00000434061.2_5'UTR|EIF4G1_ENST00000350481.5_Nonsense_Mutation_p.R19*	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	183	PABPC1-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.R183*(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GATCCGAATTCGAGATCCAAA	0.552																																					p.R183X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C547T	3						.						91.0	84.0	86.0					3																	184038427		2203	4300	6503	185521121	SO:0001587	stop_gained	1981	exon7			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.547C>T	3.37:g.184038427C>T	ENSP00000316879:p.Arg183*	Somatic		Capture	SOLID	Phase_I	185521121	NM_182917	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Nonsense_Mutation	SNP	ENST00000346169.2	37	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415064	0.83449	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000456033;ENST00000411531;ENST00000444861;ENST00000441154	.	.	.	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.716	13.6103	0.62074	0.1549:0.845:0.0:0.0	.	.	.	.	X	183;143;96;183;190;190;124;19;190;96;183;183;190;133;143;19;19	.	ENSP00000323737:R183X	R	+	1	2	EIF4G1	185521121	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.151000	0.42263	2.656000	0.90262	0.655000	0.94253	CGA		0.552	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917	
DGKG	1608	hgsc.bcm.edu	37	3	186006582	186006582	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:186006582G>A	ENST00000265022.3	-	6	1000	c.461C>T	c.(460-462)tCg>tTg	p.S154L	DGKG_ENST00000382164.4_Missense_Mutation_p.S154L|DGKG_ENST00000544847.1_Missense_Mutation_p.S154L|DGKG_ENST00000344484.4_Missense_Mutation_p.S154L	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	154	Poly-Ser.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.S154L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TGGGGATTCCGAGCTTGAAGA	0.562																																					p.S154L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C461T	3						.						137.0	150.0	145.0					3																	186006582		2203	4300	6503	187489276	SO:0001583	missense	1608	exon6			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.461C>T	3.37:g.186006582G>A	ENSP00000265022:p.Ser154Leu	Somatic		Capture	SOLID	Phase_I	187489276	NM_001346	B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124622	0.37533	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.87	4.07	0.47477	.	0.662303	0.13522	N	0.381619	T	0.33089	0.0851	L	0.43152	1.355	0.20975	N	0.999817	B;B;B;B	0.31351	0.0;0.003;0.32;0.002	B;B;B;B	0.25987	0.002;0.003;0.065;0.001	T	0.12630	-1.0540	10	0.28530	T	0.3	.	10.9704	0.47436	0.1562:0.0:0.8438:0.0	.	154;154;154;154	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	L	154;154;154;154;157	ENSP00000265022:S154L;ENSP00000339777:S154L;ENSP00000371599:S154L;ENSP00000440507:S154L	ENSP00000265022:S154L	S	-	2	0	DGKG	187489276	0.005000	0.15991	0.356000	0.25785	0.001000	0.01503	1.073000	0.30691	1.636000	0.50526	-0.136000	0.14681	TCG		0.562	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3		
CNTN4	152330	hgsc.bcm.edu	37	3	3095582	3095582	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:3095582A>G	ENST00000397461.1	+	23	3287	c.2903A>G	c.(2902-2904)tAt>tGt	p.Y968C	CNTN4_ENST00000418658.1_Missense_Mutation_p.Y968C|CNTN4_ENST00000427331.1_Missense_Mutation_p.Y968C|CNTN4_ENST00000358480.3_Missense_Mutation_p.Y749C|CNTN4_ENST00000448906.2_Missense_Mutation_p.Y640C|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Missense_Mutation_p.Y640C	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	968	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.Y968C(1)|p.Y640C(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)		GATGAAGATTATATAATAGAA	0.398																																					p.Y640C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1919G	3						.						92.0	102.0	99.0					3																	3095582		2203	4300	6503	3070582	SO:0001583	missense	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.2903A>G	3.37:g.3095582A>G	ENSP00000380602:p.Tyr968Cys	Somatic		Capture	SOLID	Phase_I	3070582	NM_175613	B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.087271	0.76642	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	5.14	5.14	0.70334	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93716	0.7992	M	0.90922	3.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95066	0.8200	10	0.87932	D	0	.	14.9718	0.71241	1.0:0.0:0.0:0.0	.	967;968	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	C	968;968;968;749;640;640	ENSP00000396010:Y968C;ENSP00000380602:Y968C;ENSP00000413642:Y968C;ENSP00000351267:Y749C;ENSP00000380600:Y640C;ENSP00000392077:Y640C	ENSP00000351267:Y749C	Y	+	2	0	CNTN4	3070582	1.000000	0.71417	0.953000	0.39169	0.978000	0.69477	8.739000	0.91574	1.926000	0.55796	0.533000	0.62120	TAT		0.398	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2		
SUMF1	285362	hgsc.bcm.edu	37	3	4403914	4403914	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:4403914C>T	ENST00000272902.5	-	9	1074	c.1039G>A	c.(1039-1041)Gct>Act	p.A347T	SUMF1_ENST00000383843.5_Missense_Mutation_p.A322T|SUMF1_ENST00000405420.2_Missense_Mutation_p.A327T|SUMF1_ENST00000458465.2_Missense_Mutation_p.A215T|SUMF1_ENST00000534863.1_Intron	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	347	Interaction with sulfatases.				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)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)	p.A347T(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		CTCCGAGCAGCACAGCGATAC	0.512																																					p.A327T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G979A	3						.						80.0	73.0	76.0					3																	4403914		2203	4300	6503	4378914	SO:0001583	missense	285362	exon8			BC017005	CCDS2564.1, CCDS54548.1, CCDS54549.1	3p26.1	2009-07-23			ENSG00000144455	ENSG00000144455			20376	protein-coding gene	gene with protein product		607939				12757705, 12757706	Standard	NM_182760		Approved	FGE, UNQ3037	uc003bpz.2	Q8NBK3	OTTHUMG00000090269	ENST00000272902.5:c.1039G>A	3.37:g.4403914C>T	ENSP00000272902:p.Ala347Thr	Somatic		Capture	SOLID	Phase_I	4378914	NM_001164675	B4DXK5|B7XD05|E9PGL0|G5E9B0|Q0VAC6|Q0VAC7|Q2NL78|Q53ZE4|Q6UY39|Q96AK5|Q96DK8	Missense_Mutation	SNP	ENST00000272902.5	37	CCDS2564.1	.	.	.	.	.	.	.	.	.	.	C	36	5.908766	0.97093	.	.	ENSG00000144455	ENST00000272902;ENST00000383843;ENST00000458465;ENST00000405420	D;D;D;D	0.97831	-4.56;-4.56;-3.6;-4.56	6.02	6.02	0.97574	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.434509	0.24403	N	0.038839	D	0.98679	0.9557	M	0.77313	2.365	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.981	D;D;D;P	0.91635	0.999;0.993;0.991;0.877	D	0.98794	1.0737	10	0.45353	T	0.12	.	19.3122	0.94192	0.0:1.0:0.0:0.0	.	215;322;327;347	E9PF05;G5E9B0;E9PGL0;Q8NBK3	.;.;.;SUMF1_HUMAN	T	347;322;215;327	ENSP00000272902:A347T;ENSP00000373355:A322T;ENSP00000410060:A215T;ENSP00000384977:A327T	ENSP00000272902:A347T	A	-	1	0	SUMF1	4378914	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	6.557000	0.73937	2.865000	0.98341	0.655000	0.94253	GCT		0.512	SUMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206591.2	NM_182760	
SCN10A	6336	hgsc.bcm.edu	37	3	38805007	38805007	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:38805007G>T	ENST00000449082.2	-	5	679	c.680C>A	c.(679-681)tCt>tAt	p.S227Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	227					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.S227Y(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)	TGGGATCACAGAAACTGTTTT	0.443																																					p.S227Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C680A	3						.						162.0	159.0	160.0					3																	38805007		2203	4300	6503	38780011	SO:0001583	missense	6336	exon5			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.680C>A	3.37:g.38805007G>T	ENSP00000390600:p.Ser227Tyr	Somatic		Capture	SOLID	Phase_I	38780011	NM_006514	A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691059	0.68271	.	.	ENSG00000185313	ENST00000449082	D	0.98807	-5.15	4.42	3.53	0.40419	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99432	0.9799	H	0.97491	4.015	0.48040	D	0.999574	D	0.89917	1.0	D	0.91635	0.999	D	0.98383	1.0559	10	0.87932	D	0	.	14.6754	0.68975	0.0:0.1463:0.8537:0.0	.	227	Q9Y5Y9	SCNAA_HUMAN	Y	227	ENSP00000390600:S227Y	ENSP00000390600:S227Y	S	-	2	0	SCN10A	38780011	1.000000	0.71417	0.944000	0.38274	0.881000	0.50899	9.477000	0.97925	1.176000	0.42840	-0.312000	0.09012	TCT		0.443	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
SCN11A	11280	hgsc.bcm.edu	37	3	38908812	38908812	+	Splice_Site	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:38908812C>A	ENST00000302328.3	-	23	4149	c.3951G>T	c.(3949-3951)aaG>aaT	p.K1317N	SCN11A_ENST00000456224.3_Splice_Site_p.K1279N|SCN11A_ENST00000450244.1_Splice_Site_p.K1317N|SCN11A_ENST00000444237.2_Splice_Site_p.K1317N	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1317					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.K1317N(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGATACTTATCTTTTTCTGCT	0.348																																					p.K1317N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3951T	3						.						136.0	127.0	130.0					3																	38908812		2203	4300	6503	38883816	SO:0001630	splice_region_variant	11280	exon23			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3951+1G>T	3.37:g.38908812C>A		Somatic		Capture	SOLID	Phase_I	38883816	NM_014139	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009870	0.93346	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96940	-4.18;-4.18;-4.14;-4.05	5.27	5.27	0.74061	.	0.050970	0.85682	D	0.000000	D	0.98473	0.9491	M	0.90082	3.085	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.99297	1.0900	9	.	.	.	.	18.4746	0.90788	0.0:1.0:0.0:0.0	.	1317	Q9UI33	SCNBA_HUMAN	N	1317;1317;1279;1317	ENSP00000307599:K1317N;ENSP00000400945:K1317N;ENSP00000416757:K1279N;ENSP00000408028:K1317N	.	K	-	3	2	SCN11A	38883816	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.813000	0.86123	2.460000	0.83146	0.561000	0.74099	AAG		0.348	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139	Missense_Mutation
XIRP1	165904	hgsc.bcm.edu	37	3	39225979	39225979	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:39225979T>C	ENST00000340369.3	-	2	5186	c.4958A>G	c.(4957-4959)tAt>tGt	p.Y1653C	XIRP1_ENST00000421646.1_Missense_Mutation_p.Y336C|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1653					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.Y1653C(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)		AGGGCACAAATACTCTCTTGA	0.547																																					p.Y1653C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4958G	3						.						108.0	100.0	103.0					3																	39225979		2203	4300	6503	39200983	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.4958A>G	3.37:g.39225979T>C	ENSP00000343140:p.Tyr1653Cys	Somatic		Capture	SOLID	Phase_I	39200983	NM_194293	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	T	3.225	-0.158695	0.06544	.	.	ENSG00000168334	ENST00000340369;ENST00000421646	T;T	0.17370	3.97;2.28	4.35	1.41	0.22369	.	1.611920	0.03977	U	0.292632	T	0.11665	0.0284	N	0.14661	0.345	0.09310	N	1	B	0.27679	0.185	B	0.31191	0.125	T	0.33214	-0.9877	10	0.56958	D	0.05	.	4.2625	0.10747	0.0:0.1519:0.192:0.6561	.	1653	Q702N8	XIRP1_HUMAN	C	1653;336	ENSP00000343140:Y1653C;ENSP00000391645:Y336C	ENSP00000343140:Y1653C	Y	-	2	0	XIRP1	39200983	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.555000	0.23422	0.660000	0.30964	0.533000	0.62120	TAT		0.547	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522	
CCR8	1237	hgsc.bcm.edu	37	3	39374698	39374698	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:39374698C>A	ENST00000326306.4	+	2	1014	c.876C>A	c.(874-876)caC>caA	p.H292Q	CCR8_ENST00000414803.1_3'UTR|CCR8_ENST00000545843.1_Missense_Mutation_p.H209Q	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	292					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)	p.H292Q(1)		NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		CCTTTACTCACTGCTGTGTGA	0.423																																					p.H292Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C876A	3						.						111.0	115.0	114.0					3																	39374698		2203	4300	6503	39349702	SO:0001583	missense	1237	exon2			D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.876C>A	3.37:g.39374698C>A	ENSP00000326432:p.His292Gln	Somatic		Capture	SOLID	Phase_I	39349702	NM_005201	B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Missense_Mutation	SNP	ENST00000326306.4	37	CCDS2684.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780530	0.70222	.	.	ENSG00000179934	ENST00000326306;ENST00000545843	T;T	0.37752	1.18;1.18	4.76	3.88	0.44766	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.68311	0.2987	H	0.94847	3.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76984	-0.2756	10	0.87932	D	0	.	12.1701	0.54152	0.0:0.915:0.0:0.085	.	292;209	P51685;Q3KNR3	CCR8_HUMAN;.	Q	292;209	ENSP00000326432:H292Q;ENSP00000440474:H209Q	ENSP00000326432:H292Q	H	+	3	2	CCR8	39349702	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.966000	0.49208	1.199000	0.43173	0.655000	0.94253	CAC		0.423	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254058.2	NM_005201	
HHATL	57467	hgsc.bcm.edu	37	3	42739807	42739807	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:42739807C>T	ENST00000441594.1	-	6	781	c.520G>A	c.(520-522)Gtg>Atg	p.V174M	HHATL_ENST00000310417.5_Missense_Mutation_p.V174M	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	174					negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.V174M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		TGAAACAGCACCTCTTGAAGA	0.557																																					p.V174M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G520A	3						.						90.0	88.0	88.0					3																	42739807		2203	4300	6503	42714811	SO:0001583	missense	57467	exon6			AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"""membrane bound O-acyltransferase domain containing 3"""	608116	"""chromosome 3 open reading frame 3"", ""GUP1, glycerol uptake/transporter homolog (yeast)"""	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.520G>A	3.37:g.42739807C>T	ENSP00000405423:p.Val174Met	Somatic		Capture	SOLID	Phase_I	42714811	NM_020707	Q8TBG3|Q9ULP7	Missense_Mutation	SNP	ENST00000441594.1	37	CCDS2704.1	.	.	.	.	.	.	.	.	.	.	c	19.03	3.747092	0.69418	.	.	ENSG00000010282	ENST00000310417;ENST00000441594;ENST00000341477;ENST00000457462;ENST00000416756;ENST00000455195;ENST00000417472	D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35	5.07	5.07	0.68467	.	0.188815	0.46442	D	0.000292	D	0.88570	0.6472	L	0.44542	1.39	0.43734	D	0.996227	P	0.49253	0.921	P	0.51866	0.682	D	0.88455	0.3051	10	0.54805	T	0.06	-21.5169	12.0327	0.53406	0.0:0.9214:0.0:0.0786	.	174	Q9HCP6	HHATL_HUMAN	M	174;174;83;109;174;174;109	ENSP00000310621:V174M;ENSP00000405423:V174M;ENSP00000403787:V109M;ENSP00000395779:V174M;ENSP00000415351:V174M	ENSP00000310621:V174M	V	-	1	0	HHATL	42714811	0.997000	0.39634	1.000000	0.80357	0.940000	0.58332	0.965000	0.29319	2.643000	0.89663	0.556000	0.70494	GTG		0.557	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343627.1	NM_020707	
ZNF660	285349	hgsc.bcm.edu	37	3	44636398	44636398	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:44636398G>T	ENST00000322734.2	+	3	1046	c.713G>T	c.(712-714)aGa>aTa	p.R238I	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	238					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R238I(1)		large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		GAACACCAGAGACTTCATCGT	0.388																																					p.R238I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G713T	3						.						74.0	78.0	77.0					3																	44636398		2203	4300	6503	44611402	SO:0001583	missense	285349	exon3			AK094189	CCDS2716.1	3p21.32	2013-01-08			ENSG00000144792	ENSG00000144792		"""Zinc fingers, C2H2-type"""	26720	protein-coding gene	gene with protein product							Standard	NM_173658		Approved	FLJ36870	uc003cnl.1	Q6AZW8	OTTHUMG00000133097	ENST00000322734.2:c.713G>T	3.37:g.44636398G>T	ENSP00000324605:p.Arg238Ile	Somatic		Capture	SOLID	Phase_I	44611402	NM_173658	Q7Z331|Q8N9M8	Missense_Mutation	SNP	ENST00000322734.2	37	CCDS2716.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350882	0.41599	.	.	ENSG00000144792	ENST00000322734	T	0.02446	4.29	4.35	4.35	0.52113	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05777	0.0151	M	0.66439	2.03	0.80722	D	1	P	0.50443	0.935	P	0.45971	0.499	T	0.25082	-1.0142	8	.	.	.	.	9.8838	0.41249	0.0968:0.0:0.9032:0.0	.	238	Q6AZW8	ZN660_HUMAN	I	238	ENSP00000324605:R238I	.	R	+	2	0	ZNF660	44611402	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	0.636000	0.24644	2.400000	0.81607	0.650000	0.86243	AGA		0.388	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256756.4	NM_173658	
CCR9	10803	hgsc.bcm.edu	37	3	45942379	45942379	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:45942379C>A	ENST00000357632.2	+	3	279	c.99C>A	c.(97-99)ttC>ttA	p.F33L	CCR9_ENST00000422395.1_Nonsense_Mutation_p.S62*|CCR9_ENST00000355983.2_Missense_Mutation_p.F21L|Y_RNA_ENST00000364765.1_RNA|LZTFL1_ENST00000536047.1_Intron|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000395963.2_Missense_Mutation_p.F21L	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	33					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)	p.F33L(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		ACTTCAACTTCACTGACTTCT	0.488																																					p.F21L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C63A	3						.						144.0	125.0	131.0					3																	45942379		2203	4300	6503	45917383	SO:0001583	missense	10803	exon2			AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.99C>A	3.37:g.45942379C>A	ENSP00000350256:p.Phe33Leu	Somatic		Capture	SOLID	Phase_I	45917383	NM_006641	Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	ENST00000357632.2	37	CCDS2732.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.296111|4.296111	0.81025|0.81025	.|.	.|.	ENSG00000173585|ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983|ENST00000422395	T;T;T|.	0.35421|.	1.31;1.31;1.31|.	4.66|4.66	1.63|1.63	0.23807|0.23807	.|.	2.478220|.	0.01614|.	N|.	0.022686|.	T|.	0.19287|.	0.0463|.	N|N	0.17631|0.17631	0.505|0.505	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|.	0.28554|.	-1.0040|.	10|.	0.11182|0.11182	T|T	0.66|0.66	.|.	6.0322|6.0322	0.19686|0.19686	0.1378:0.6509:0.1336:0.0777|0.1378:0.6509:0.1336:0.0777	.|.	33|.	P51686|.	CCR9_HUMAN|.	L|X	33;21;21|62	ENSP00000350256:F33L;ENSP00000379292:F21L;ENSP00000348260:F21L|.	ENSP00000348260:F21L|ENSP00000393267:S62X	F|S	+|+	3|2	2|0	CCR9|CCR9	45917383|45917383	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.701000|0.701000	0.40568|0.40568	-1.210000|-1.210000	0.02999|0.02999	0.484000|0.484000	0.27630|0.27630	0.563000|0.563000	0.77884|0.77884	TTC|TCA		0.488	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2		
FYCO1	79443	hgsc.bcm.edu	37	3	46009491	46009491	+	Silent	SNP	C	C	T	rs3796376	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:46009491C>T	ENST00000296137.2	-	8	1540	c.1335G>A	c.(1333-1335)ctG>ctA	p.L445L	FYCO1_ENST00000535325.1_Silent_p.L445L	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	445					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)			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)		CCAGGCGCTCCAGGCTGGCCC	0.627													C|||	808	0.161342	0.0333	0.1542	5008	,	,		17595	0.2927		0.2078	False		,,,				2504	0.1564				p.L445L												.	.	0			c.G1335A	3						.	C		293,4113	161.1+/-193.3	6,281,1916	138.0	151.0	147.0		1335	2.3	0.9	3	dbSNP_107	147	1686,6914	309.2+/-309.3	161,1364,2775	no	coding-synonymous	FYCO1	NM_024513.2		167,1645,4691	TT,TC,CC		19.6047,6.65,15.2161		445/1479	46009491	1979,11027	2203	4300	6503	45984495	SO:0001819	synonymous_variant	79443	exon8			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.1335G>A	3.37:g.46009491C>T		Somatic		Capture	SOLID	Phase_I	45984495	NM_024513	B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Silent	SNP	ENST00000296137.2	37	CCDS2734.1																																																																																				0.627	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513	
CCR5	1234	hgsc.bcm.edu	37	3	46415057	46415057	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:46415057C>T	ENST00000292303.4	+	2	810	c.664C>T	c.(664-666)Ctt>Ttt	p.L222F	RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000343801.4_Missense_Mutation_p.L222F|CCR5_ENST00000445772.1_Missense_Mutation_p.L222F	NM_001100168.1	NP_001093638.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	222					calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|signaling (GO:0023052)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.L222F(1)		central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	AAAAACTCTGCTTCGGTGTCG	0.458																																					p.L222F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C664T	3						.						168.0	184.0	179.0					3																	46415057		2203	4296	6499	46390061	SO:0001583	missense	1234	exon3				CCDS2739.1	3p21	2012-08-08	2012-01-23		ENSG00000160791	ENSG00000160791		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1606	protein-coding gene	gene with protein product		601373	"""chemokine (C-C motif) receptor 5"""	CMKBR5		8639485	Standard	NM_001100168		Approved	CKR-5, CC-CKR-5, CKR5, CD195, IDDM22	uc003cpo.4	P51681	OTTHUMG00000133481	ENST00000292303.4:c.664C>T	3.37:g.46415057C>T	ENSP00000292303:p.Leu222Phe	Somatic		Capture	SOLID	Phase_I	46390061	NM_001100168	O14692|O14693|O14695|O14696|O14697|O14698|O14699|O14700|O14701|O14702|O14703|O14704|O14705|O14706|O14707|O14708|O15538|Q9UPA4	Missense_Mutation	SNP	ENST00000292303.4	37	CCDS2739.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542889	0.45280	.	.	ENSG00000160791	ENST00000343801;ENST00000400886;ENST00000292303;ENST00000445772	T;T;T	0.39997	1.05;1.05;1.05	5.69	3.88	0.44766	GPCR, rhodopsin-like superfamily (1);	0.353602	0.20181	N	0.097536	T	0.35098	0.0920	L	0.41573	1.285	0.31402	N	0.676609	B	0.18013	0.025	B	0.30782	0.12	T	0.38478	-0.9659	10	0.49607	T	0.09	.	7.3924	0.26917	0.1361:0.7185:0.0:0.1454	.	222	P51681	CCR5_HUMAN	F	222;202;222;222	ENSP00000343985:L222F;ENSP00000292303:L222F;ENSP00000404881:L222F	ENSP00000292303:L222F	L	+	1	0	CCR5	46390061	0.026000	0.19158	0.982000	0.44146	0.988000	0.76386	0.018000	0.13422	0.735000	0.32537	0.561000	0.74099	CTT		0.458	CCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257377.2	NM_000579	
DALRD3	55152	hgsc.bcm.edu	37	3	49055172	49055172	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:49055172C>A	ENST00000341949.4	-	3	598	c.592G>T	c.(592-594)Gaa>Taa	p.E198*	DALRD3_ENST00000313778.5_Nonsense_Mutation_p.E31*|MIR191_ENST00000384873.1_RNA|DALRD3_ENST00000496568.1_5'UTR|DALRD3_ENST00000395462.4_Nonsense_Mutation_p.E31*|DALRD3_ENST00000441576.2_Nonsense_Mutation_p.E198*|DALRD3_ENST00000440857.1_Nonsense_Mutation_p.E31*|NDUFAF3_ENST00000326912.4_5'Flank|MIR425_ENST00000362162.1_RNA	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	198					arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)	p.E31*(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GAGGTAAGTTCTTCAAGGGCG	0.612																																					p.E31X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G91T	3						.						72.0	56.0	61.0					3																	49055172		2203	4300	6503	49030176	SO:0001587	stop_gained	55152	exon3			BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.592G>T	3.37:g.49055172C>A	ENSP00000344989:p.Glu198*	Somatic		Capture	SOLID	Phase_I	49030176	NM_018114	Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Nonsense_Mutation	SNP	ENST00000341949.4	37	CCDS33754.1	.	.	.	.	.	.	.	.	.	.	c	38	6.958728	0.97964	.	.	ENSG00000178149	ENST00000441576;ENST00000341949;ENST00000395462;ENST00000440857;ENST00000313778;ENST00000420952	.	.	.	5.06	-1.09	0.09904	.	0.757148	0.12031	N	0.505993	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-2.9775	5.7645	0.18219	0.0:0.3446:0.2369:0.4185	.	.	.	.	X	198;198;31;31;31;163	.	ENSP00000323265:E31X	E	-	1	0	DALRD3	49030176	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.305000	0.08188	-0.619000	0.05648	-0.828000	0.03084	GAA		0.612	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345581.1	NM_018114	
USP4	7375	hgsc.bcm.edu	37	3	49323729	49323729	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:49323729C>T	ENST00000265560.4	-	16	2048	c.2002G>A	c.(2002-2004)Gaa>Aaa	p.E668K	USP4_ENST00000351842.4_Missense_Mutation_p.E621K	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	668	USP.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.E668K(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TTGCCTTCTTCCTGATGCTCC	0.403																																					p.E621K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1861A	3						.						156.0	140.0	145.0					3																	49323729		2203	4300	6503	49298733	SO:0001583	missense	7375	exon15			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.2002G>A	3.37:g.49323729C>T	ENSP00000265560:p.Glu668Lys	Somatic		Capture	SOLID	Phase_I	49298733	NM_199443	A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	ENST00000265560.4	37	CCDS2793.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.33|14.33	2.504074|2.504074	0.44558|0.44558	.|.	.|.	ENSG00000114316|ENSG00000114316	ENST00000351842;ENST00000265560|ENST00000431357	T;T|.	0.21932|.	1.98;2.11|.	5.31|5.31	4.43|4.43	0.53597|0.53597	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);|.	1.186130|.	0.07348|.	U|.	0.881971|.	T|T	0.55257|0.55257	0.1909|0.1909	L|L	0.37561|0.37561	1.115|1.115	0.80722|0.80722	D|D	1|1	B;B;B|.	0.25312|.	0.101;0.04;0.123|.	B;B;B|.	0.29176|.	0.06;0.063;0.099|.	T|T	0.50030|0.50030	-0.8875|-0.8875	10|5	0.24483|.	T|.	0.36|.	-5.4604|-5.4604	12.1291|12.1291	0.53932|0.53932	0.0:0.9162:0.0:0.0838|0.0:0.9162:0.0:0.0838	.|.	621;668;668|.	Q13107-2;Q13107;Q08AK7|.	.;UBP4_HUMAN;.|.	K|E	621;668|406	ENSP00000341028:E621K;ENSP00000265560:E668K|.	ENSP00000265560:E668K|.	E|G	-|-	1|2	0|0	USP4|USP4	49298733|49298733	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.900000|0.900000	0.52787|0.52787	3.453000|3.453000	0.52978|0.52978	2.496000|2.496000	0.84212|0.84212	0.313000|0.313000	0.20887|0.20887	GAA|GGA		0.403	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443	
USP4	7375	hgsc.bcm.edu	37	3	49349075	49349075	+	Silent	SNP	C	C	T	rs143637177		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:49349075C>T	ENST00000265560.4	-	7	754	c.708G>A	c.(706-708)gcG>gcA	p.A236A	USP4_ENST00000351842.4_Intron|USP4_ENST00000488520.1_5'UTR	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	236					negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.A236A(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TTCTGCTAGGCGCAGTGCTTG	0.438																																					p.A236A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G708A	3						.	C	,	1,4405	2.1+/-5.4	0,1,2202	121.0	117.0	119.0		708,	-2.9	1.0	3	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous,intron	USP4	NM_003363.3,NM_199443.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	236/964,	49349075	1,13005	2203	4300	6503	49324079	SO:0001819	synonymous_variant	7375	exon7			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.708G>A	3.37:g.49349075C>T		Somatic		Capture	SOLID	Phase_I	49324079	NM_003363	A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Silent	SNP	ENST00000265560.4	37	CCDS2793.1																																																																																				0.438	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443	
RNF123	63891	hgsc.bcm.edu	37	3	49737755	49737755	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:49737755G>T	ENST00000327697.6	+	13	1224	c.1080G>T	c.(1078-1080)caG>caT	p.Q360H	RNF123_ENST00000432042.1_Missense_Mutation_p.Q214H	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	360					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TGGTGCACCAGGTCCTGGACC	0.607																																					p.Q360H												.	.	0			c.G1080T	3						.						105.0	80.0	88.0					3																	49737755		2203	4300	6503	49712759	SO:0001583	missense	63891	exon13			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.1080G>T	3.37:g.49737755G>T	ENSP00000328287:p.Gln360His	Somatic		Capture	SOLID	Phase_I	49712759	NM_022064	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034803	0.35893	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.76448	-0.72;-1.02	5.58	0.684	0.18003	.	0.428062	0.26304	N	0.025155	T	0.52008	0.1708	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.24693	-1.0153	10	0.34782	T	0.22	-16.1031	5.3663	0.16115	0.2799:0.2538:0.4663:0.0	.	214;360	C9J266;Q5XPI4	.;RN123_HUMAN	H	360;360;214	ENSP00000328287:Q360H;ENSP00000392443:Q214H	ENSP00000328287:Q360H	Q	+	3	2	RNF123	49712759	1.000000	0.71417	0.986000	0.45419	0.954000	0.61252	1.417000	0.34770	0.319000	0.23209	-0.136000	0.14681	CAG		0.607	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064	
RBM6	10180	hgsc.bcm.edu	37	3	50097091	50097091	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:50097091C>T	ENST00000266022.4	+	11	2399	c.2140C>T	c.(2140-2142)Cgt>Tgt	p.R714C	RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_Missense_Mutation_p.R56C|RBM6_ENST00000422955.1_Missense_Mutation_p.R192C|RBM6_ENST00000442092.1_Missense_Mutation_p.R192C|RBM6_ENST00000443081.1_Missense_Mutation_p.R582C	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	714					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.R714C(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)		GGAAGCTCTTCGTGTGGTGAA	0.448																																					p.R192C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C574T	3						.						99.0	97.0	98.0					3																	50097091		2203	4300	6503	50072095	SO:0001583	missense	10180	exon7			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.2140C>T	3.37:g.50097091C>T	ENSP00000266022:p.Arg714Cys	Somatic		Capture	SOLID	Phase_I	50072095	NM_001167582	O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483289	0.63962	.	.	ENSG00000004534	ENST00000442092;ENST00000266022;ENST00000443081;ENST00000539992;ENST00000422955	T;T;T;T;T	0.09350	2.99;2.99;2.99;2.99;2.99	5.56	4.69	0.59074	Nucleotide-binding, alpha-beta plait (1);	0.451827	0.22630	N	0.057598	T	0.23846	0.0577	L	0.50333	1.59	0.50813	D	0.999899	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.938	T	0.00651	-1.1626	9	.	.	.	-2.0283	10.2983	0.43637	0.1425:0.7854:0.0:0.0721	.	582;714	E9PGM9;P78332	.;RBM6_HUMAN	C	192;714;582;56;192	ENSP00000393530:R192C;ENSP00000266022:R714C;ENSP00000396466:R582C;ENSP00000443165:R56C;ENSP00000392939:R192C	.	R	+	1	0	RBM6	50072095	1.000000	0.71417	0.940000	0.37924	0.518000	0.34316	5.104000	0.64584	1.366000	0.46076	-0.145000	0.13849	CGT		0.448	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777	
PBRM1	55193	hgsc.bcm.edu	37	3	52713634	52713634	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:52713634T>G	ENST00000296302.7	-	1	95	c.94A>C	c.(94-96)Agc>Cgc	p.S32R	PBRM1_ENST00000337303.4_Missense_Mutation_p.S32R|PBRM1_ENST00000356770.4_Missense_Mutation_p.S32R|PBRM1_ENST00000409114.3_Missense_Mutation_p.S32R|PBRM1_ENST00000409057.1_Missense_Mutation_p.S32R|PBRM1_ENST00000409767.1_Missense_Mutation_p.S32R|PBRM1_ENST00000410007.1_Missense_Mutation_p.S32R|PBRM1_ENST00000394830.3_Missense_Mutation_p.S32R			Q86U86	PB1_HUMAN	polybromo 1	32					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S32R(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTTTTCCTGCTTGGGCCTGGT	0.498			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																p.S32R			Rec	yes		3	3p21	55193	polybromo 1		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A94C	3						.						131.0	113.0	119.0					3																	52713634		2203	4300	6503	52688674	SO:0001583	missense	55193	exon1			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.94A>C	3.37:g.52713634T>G	ENSP00000296302:p.Ser32Arg	Somatic		Capture	SOLID	Phase_I	52688674	NM_018165	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	T	18.28	3.589281	0.66105	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000431678;ENST00000420148;ENST00000449505;ENST00000450271;ENST00000439181;ENST00000458294	T;T;T;T;T;T;T;T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22	5.64	5.64	0.86602	Bromodomain (2);	0.049802	0.85682	D	0.000000	T	0.12008	0.0292	N	0.08118	0	0.48452	D	0.999657	D;D;D;P;P;D;P;P	0.57899	0.969;0.965;0.969;0.799;0.928;0.981;0.911;0.899	P;P;P;P;P;B;P;P	0.50490	0.563;0.571;0.563;0.466;0.642;0.355;0.563;0.571	T	0.26326	-1.0106	10	0.16420	T	0.52	.	10.2443	0.43332	0.0:0.0739:0.0:0.9261	.	32;32;32;32;32;32;32;32	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	R	32	ENSP00000349213:S32R;ENSP00000378307:S32R;ENSP00000296302:S32R;ENSP00000338302:S32R;ENSP00000386593:S32R;ENSP00000386529:S32R;ENSP00000386643:S32R;ENSP00000386601:S32R;ENSP00000387775:S32R;ENSP00000409939:S32R;ENSP00000389390:S32R;ENSP00000412401:S32R;ENSP00000416851:S32R	ENSP00000296302:S32R	S	-	1	0	PBRM1	52688674	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.616000	0.61197	2.142000	0.66516	0.477000	0.44152	AGC		0.498	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	
NEK4	6787	hgsc.bcm.edu	37	3	52802595	52802595	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:52802595C>T	ENST00000233027.5	-	2	321	c.119G>A	c.(118-120)cGa>cAa	p.R40Q	NEK4_ENST00000535191.1_Intron|NEK4_ENST00000383721.4_Missense_Mutation_p.R40Q	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	40	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R40Q(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		AGAGGCATTTCGGAGGTTCAG	0.443																																					p.R40Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G119A	3						.						86.0	88.0	88.0					3																	52802595		2203	4300	6503	52777635	SO:0001583	missense	6787	exon2			L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"""serine/threonine protein kinase-2"""	601959	"""serine/threonine kinase 2"", ""NIMA (never in mitosis gene a)-related kinase 4"""	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.119G>A	3.37:g.52802595C>T	ENSP00000233027:p.Arg40Gln	Somatic		Capture	SOLID	Phase_I	52777635	NM_003157	A5YM70|B2R633|B7Z200|Q6P576	Missense_Mutation	SNP	ENST00000233027.5	37	CCDS2863.1	.	.	.	.	.	.	.	.	.	.	C	6.630	0.484659	0.12641	.	.	ENSG00000114904	ENST00000233027;ENST00000383721	T;T	0.65916	-0.18;-0.18	5.86	4.0	0.46444	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.425237	0.19119	N	0.122240	T	0.36608	0.0973	N	0.12443	0.215	0.09310	N	1	B;B	0.32573	0.085;0.376	B;B	0.28139	0.031;0.086	T	0.18493	-1.0335	10	0.10377	T	0.69	.	9.0068	0.36117	0.0:0.646:0.0:0.354	.	40;40	P51957-2;P51957	.;NEK4_HUMAN	Q	40	ENSP00000233027:R40Q;ENSP00000373227:R40Q	ENSP00000233027:R40Q	R	-	2	0	NEK4	52777635	1.000000	0.71417	0.884000	0.34674	0.006000	0.05464	1.280000	0.33202	0.764000	0.33197	-1.127000	0.01993	CGA		0.443	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	NM_003157	
ITIH1	3697	hgsc.bcm.edu	37	3	52819176	52819176	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:52819176G>T	ENST00000273283.2	+	12	1548	c.1524G>T	c.(1522-1524)gaG>gaT	p.E508D	ITIH1_ENST00000405128.3_5'Flank|ITIH1_ENST00000537050.1_Missense_Mutation_p.E220D|ITIH1_ENST00000542827.1_Missense_Mutation_p.E508D|ITIH1_ENST00000540715.1_Missense_Mutation_p.E366D	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	508	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E508D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		AAGGCTCAGAGATTGTGGTGG	0.567																																					p.E366D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1098T	3						.						138.0	128.0	131.0					3																	52819176		2203	4300	6503	52794216	SO:0001583	missense	3697	exon10				CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.1524G>T	3.37:g.52819176G>T	ENSP00000273283:p.Glu508Asp	Somatic		Capture	SOLID	Phase_I	52794216	NM_001166434	A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747505	0.69533	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133	T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25	4.88	2.93	0.34026	.	0.000000	0.85682	D	0.000000	T	0.46776	0.1410	M	0.92268	3.29	0.33885	D	0.636579	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.97110	1.0;0.997;0.996	T	0.65487	-0.6156	10	0.87932	D	0	-43.683	9.0339	0.36275	0.2593:0.0:0.7407:0.0	.	366;109;508	F5H165;Q9P1C5;P19827	.;.;ITIH1_HUMAN	D	508;508;366;220;61	ENSP00000442584:E508D;ENSP00000273283:E508D;ENSP00000443973:E366D;ENSP00000443847:E220D;ENSP00000395836:E61D	ENSP00000273283:E508D	E	+	3	2	ITIH1	52794216	1.000000	0.71417	0.988000	0.46212	0.951000	0.60555	2.300000	0.43620	1.303000	0.44873	0.543000	0.68304	GAG		0.567	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215	
ITIH1	3697	hgsc.bcm.edu	37	3	52820320	52820320	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:52820320G>T	ENST00000273283.2	+	13	1627	c.1603G>T	c.(1603-1605)Gaa>Taa	p.E535*	ITIH1_ENST00000405128.3_5'Flank|ITIH1_ENST00000537050.1_Nonsense_Mutation_p.E247*|ITIH1_ENST00000542827.1_Nonsense_Mutation_p.E535*|ITIH1_ENST00000540715.1_Nonsense_Mutation_p.E393*	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	535	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E535*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GGAGGGACAAGAATTCAGTAT	0.582																																					p.E393X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1177T	3						.						57.0	43.0	48.0					3																	52820320		2203	4296	6499	52795360	SO:0001587	stop_gained	3697	exon11				CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.1603G>T	3.37:g.52820320G>T	ENSP00000273283:p.Glu535*	Somatic		Capture	SOLID	Phase_I	52795360	NM_001166434	A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Nonsense_Mutation	SNP	ENST00000273283.2	37	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	G	39	7.392673	0.98255	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133	.	.	.	5.49	4.6	0.57074	.	0.809889	0.11998	N	0.509142	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-11.035	10.5837	0.45269	0.0916:0.0:0.9084:0.0	.	.	.	.	X	535;535;393;247;88	.	ENSP00000273283:E535X	E	+	1	0	ITIH1	52795360	0.039000	0.19947	1.000000	0.80357	0.604000	0.37047	1.582000	0.36568	2.582000	0.87167	0.462000	0.41574	GAA		0.582	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215	
TKT	7086	hgsc.bcm.edu	37	3	53263350	53263350	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:53263350C>T	ENST00000462138.1	-	9	1298	c.1210G>A	c.(1210-1212)Gcc>Acc	p.A404T	TKT_ENST00000461139.1_5'UTR|TKT_ENST00000296289.6_Missense_Mutation_p.A357T|TKT_ENST00000423516.1_Missense_Mutation_p.A412T|TKT_ENST00000423525.2_Missense_Mutation_p.A404T			P29401	TKT_HUMAN	transketolase	404					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)	p.A404T(2)		endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		TCGGAGATGGCGGCCATGCGA	0.597																																					p.A404T	Colon(133;1506 2347 35238 42177)											.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.G1210A	3						.						57.0	52.0	54.0					3																	53263350		2203	4300	6503	53238390	SO:0001583	missense	7086	exon9				CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"""Wernicke-Korsakoff syndrome"""	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.1210G>A	3.37:g.53263350C>T	ENSP00000417773:p.Ala404Thr	Somatic		Capture	SOLID	Phase_I	53238390	NM_001135055	A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Missense_Mutation	SNP	ENST00000462138.1	37	CCDS2871.1	.	.	.	.	.	.	.	.	.	.	C	32	5.184313	0.94885	.	.	ENSG00000163931	ENST00000462138;ENST00000423525;ENST00000423516;ENST00000296289;ENST00000414014	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	5.33	5.33	0.75918	Transketolase-like, pyrimidine-binding domain (2);	0.101142	0.64402	D	0.000003	D	0.96864	0.8976	H	0.94925	3.6	0.80722	D	1	D;D;D	0.71674	0.998;0.99;0.99	P;P;P	0.59012	0.85;0.804;0.69	D	0.97779	1.0231	10	0.72032	D	0.01	-28.8054	19.0493	0.93036	0.0:1.0:0.0:0.0	.	412;321;404	E7EPA7;B3KSI4;P29401	.;.;TKT_HUMAN	T	404;404;412;357;238	ENSP00000417773:A404T;ENSP00000405455:A404T;ENSP00000391481:A412T;ENSP00000296289:A357T	ENSP00000296289:A357T	A	-	1	0	TKT	53238390	1.000000	0.71417	0.950000	0.38849	0.820000	0.46376	6.079000	0.71291	2.490000	0.84030	0.655000	0.94253	GCC		0.597	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1		
CACNA1D	776	hgsc.bcm.edu	37	3	53783319	53783319	+	Silent	SNP	G	G	A	rs561753004		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:53783319G>A	ENST00000350061.5	+	27	3850	c.3339G>A	c.(3337-3339)tcG>tcA	p.S1113S	CACNA1D_ENST00000288139.4_Silent_p.S1133S|CACNA1D_ENST00000540742.1_Silent_p.S20S|CACNA1D_ENST00000422281.2_Silent_p.S1113S	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1113	Dihydropyridine binding. {ECO:0000250}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.S1133S(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCATCGACTCGAATGGAGAGA	0.517													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18814	0.0		0.0	False		,,,				2504	0.0				p.S1113S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3339A	3						.						129.0	105.0	113.0					3																	53783319		2203	4300	6503	53758359	SO:0001819	synonymous_variant	776	exon27			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.3339G>A	3.37:g.53783319G>A		Somatic		Capture	SOLID	Phase_I	53758359	NM_001128840	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	ENST00000350061.5	37	CCDS46848.1																																																																																				0.517	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720	
FAM208A	23272	hgsc.bcm.edu	37	3	56667503	56667503	+	Missense_Mutation	SNP	C	C	T	rs368985070		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:56667503C>T	ENST00000493960.2	-	18	3326	c.3316G>A	c.(3316-3318)Gat>Aat	p.D1106N	FAM208A_ENST00000355628.5_Missense_Mutation_p.D1045N|FAM208A_ENST00000431842.2_Missense_Mutation_p.D669N	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1106							poly(A) RNA binding (GO:0044822)	p.D669N(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GCACCAGAATCGTTAGGACTG	0.428																																					p.D669N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2005A	3						.	C	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	107.0	105.0	106.0		2005,3316	2.5	1.0	3		106	0,8600		0,0,4300	no	missense,missense	FAM208A	NM_015224.3,NM_001112736.1	23,23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	669/1234,1106/1513	56667503	1,13005	2203	4300	6503	56642543	SO:0001583	missense	23272	exon11			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.3316G>A	3.37:g.56667503C>T	ENSP00000417509:p.Asp1106Asn	Somatic		Capture	SOLID	Phase_I	56642543	NM_015224	A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	C	6.341	0.430989	0.12045	2.27E-4	0.0	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.10960	2.82;3.01;3.01	5.36	2.51	0.30379	.	0.362406	0.27336	N	0.019824	T	0.07188	0.0182	L	0.31926	0.97	0.09310	N	1	B;B;B;B	0.21753	0.059;0.038;0.037;0.06	B;B;B;B	0.20577	0.006;0.004;0.03;0.004	T	0.37384	-0.9708	10	0.19147	T	0.46	-7.0842	6.9034	0.24295	0.0:0.6531:0.1355:0.2114	.	1106;1045;669;1106	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	N	669;1106;1045	ENSP00000399410:D669N;ENSP00000417509:D1106N;ENSP00000347845:D1045N	ENSP00000347845:D1045N	D	-	1	0	C3orf63	56642543	0.059000	0.20769	0.963000	0.40424	0.679000	0.39708	0.927000	0.28818	0.720000	0.32209	0.557000	0.71058	GAT		0.428	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224	
FAM208A	23272	hgsc.bcm.edu	37	3	56680686	56680686	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:56680686C>T	ENST00000493960.2	-	14	2089	c.2079G>A	c.(2077-2079)aaG>aaA	p.K693K	FAM208A_ENST00000355628.5_Silent_p.K693K|FAM208A_ENST00000431842.2_Silent_p.K297K	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	693							poly(A) RNA binding (GO:0044822)	p.K297K(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						CACCCACACTCTTTTTCCTAC	0.373																																					p.K297K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G891A	3						.						126.0	123.0	124.0					3																	56680686		2203	4300	6503	56655726	SO:0001819	synonymous_variant	23272	exon7			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.2079G>A	3.37:g.56680686C>T		Somatic		Capture	SOLID	Phase_I	56655726	NM_015224	A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Silent	SNP	ENST00000493960.2	37	CCDS46853.1																																																																																				0.373	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224	
FAM208A	23272	hgsc.bcm.edu	37	3	56680904	56680904	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:56680904C>A	ENST00000493960.2	-	14	1871	c.1861G>T	c.(1861-1863)Gaa>Taa	p.E621*	FAM208A_ENST00000355628.5_Nonsense_Mutation_p.E621*|FAM208A_ENST00000431842.2_Nonsense_Mutation_p.E225*	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	621							poly(A) RNA binding (GO:0044822)	p.E225*(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TCAAATAGTTCTTTTAATTTA	0.313																																					p.E225X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G673T	3						.						47.0	47.0	47.0					3																	56680904		2201	4296	6497	56655944	SO:0001587	stop_gained	23272	exon7			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.1861G>T	3.37:g.56680904C>A	ENSP00000417509:p.Glu621*	Somatic		Capture	SOLID	Phase_I	56655944	NM_015224	A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Nonsense_Mutation	SNP	ENST00000493960.2	37	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	C	39	7.430140	0.98279	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	.	.	.	4.96	4.09	0.47781	.	0.200868	0.34603	N	0.003834	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-4.2555	10.9721	0.47444	0.0:0.8493:0.0:0.1507	.	.	.	.	X	225;621;621	.	ENSP00000347845:E621X	E	-	1	0	C3orf63	56655944	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.655000	0.46707	1.454000	0.47793	-0.140000	0.14226	GAA		0.313	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224	
APPL1	26060	hgsc.bcm.edu	37	3	57280125	57280125	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:57280125G>C	ENST00000288266.3	+	8	643	c.496G>C	c.(496-498)Gat>Cat	p.D166H		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	166	Required for RAB5A binding.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		AGTAACAGAAGATGTGTACAC	0.294																																					p.D166H												.	.	0			c.G496C	3						.						134.0	124.0	128.0					3																	57280125		2203	4299	6502	57255165	SO:0001583	missense	26060	exon8			AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.496G>C	3.37:g.57280125G>C	ENSP00000288266:p.Asp166His	Somatic		Capture	SOLID	Phase_I	57255165	NM_012096	Q9P2B9	Missense_Mutation	SNP	ENST00000288266.3	37	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.814199	0.90790	.	.	ENSG00000157500	ENST00000288266	T	0.04758	3.56	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.17534	0.0421	L	0.51422	1.61	0.80722	D	1	D;D	0.71674	0.992;0.998	P;D	0.64595	0.862;0.927	T	0.00029	-1.2294	10	0.66056	D	0.02	-11.6151	19.922	0.97089	0.0:0.0:1.0:0.0	.	149;166	B4DQX8;Q9UKG1	.;DP13A_HUMAN	H	166	ENSP00000288266:D166H	ENSP00000288266:D166H	D	+	1	0	APPL1	57255165	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.751000	0.98889	2.780000	0.95670	0.655000	0.94253	GAT		0.294	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096	
PXK	54899	hgsc.bcm.edu	37	3	58389598	58389598	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:58389598C>T	ENST00000356151.2	+	13	1300	c.1191C>T	c.(1189-1191)agC>agT	p.S397S	PXK_ENST00000302779.5_Silent_p.S380S|PXK_ENST00000479241.1_Silent_p.S380S|PXK_ENST00000484288.1_Silent_p.S397S|PXK_ENST00000383715.4_Silent_p.S380S|PXK_ENST00000536660.1_Silent_p.S260S|PXK_ENST00000463280.1_Silent_p.S364S|PXK_ENST00000383716.3_Silent_p.S364S	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase									p.S397S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		GATTATTCAGCGATGTTTTAC	0.343																																					p.S397S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1191T	3						.						74.0	76.0	75.0					3																	58389598		2201	4300	6501	58364638	SO:0001819	synonymous_variant	54899	exon13			AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.1191C>T	3.37:g.58389598C>T		Somatic		Capture	SOLID	Phase_I	58364638	NM_017771		Silent	SNP	ENST00000356151.2	37	CCDS2889.1	.	.	.	.	.	.	.	.	.	.	C	8.413	0.844637	0.16963	.	.	ENSG00000168297	ENST00000479134	.	.	.	5.74	3.4	0.38934	.	.	.	.	.	T	0.53948	0.1828	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	.	.	.	-6.6691	5.2405	0.15469	0.1232:0.1898:0.0:0.6871	.	.	.	.	V	152	.	.	A	+	2	0	PXK	58364638	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.517000	0.45529	0.548000	0.28955	-0.291000	0.09656	GCG		0.343	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	NM_017771	
PSMD6	9861	hgsc.bcm.edu	37	3	64008051	64008051	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:64008051G>T	ENST00000295901.4	-	2	434	c.294C>A	c.(292-294)agC>agA	p.S98R	PSMD6_ENST00000492933.1_Missense_Mutation_p.S151R|PSMD6_ENST00000394431.2_Missense_Mutation_p.S60R|PSMD6_ENST00000482510.1_Missense_Mutation_p.S59R|RP11-245J9.6_ENST00000605919.1_RNA	NM_014814.1	NP_055629.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	98					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|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)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATPase activity (GO:0016887)	p.S98S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		CGCGAATTTCGCTCTCTCCTA	0.453																																					p.S98R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C294A	3						.						179.0	171.0	174.0					3																	64008051		2203	4300	6503	63983091	SO:0001583	missense	9861	exon2			AF215935	CCDS2901.1, CCDS63677.1, CCDS63678.1, CCDS63679.1	3p14.1	2008-05-22			ENSG00000163636	ENSG00000163636		"""Proteasome (prosome, macropain) subunits"""	9564	protein-coding gene	gene with protein product						10723133	Standard	NM_001271779		Approved	S10, p44S10, KIAA0107, Rpn7	uc003dmb.2	Q15008	OTTHUMG00000158765	ENST00000295901.4:c.294C>A	3.37:g.64008051G>T	ENSP00000295901:p.Ser98Arg	Somatic		Capture	SOLID	Phase_I	63983091	NM_014814	A8K2E0|E9PHI9|Q6UV22	Missense_Mutation	SNP	ENST00000295901.4	37	CCDS2901.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502602	0.64298	.	.	ENSG00000163636	ENST00000295901;ENST00000492933;ENST00000394431;ENST00000482510;ENST00000497323;ENST00000478185	T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02	5.19	-2.79	0.05841	.	0.073164	0.85682	D	0.000000	D	0.84705	0.5531	M	0.80332	2.49	0.80722	D	1	D;D;D;P	0.58268	0.965;0.965;0.982;0.95	P;P;D;P	0.69479	0.814;0.852;0.964;0.897	T	0.82800	-0.0278	10	0.30078	T	0.28	.	14.2801	0.66205	0.678:0.0:0.322:0.0	.	60;59;151;98	Q6UV22;E9PHI9;C9IZE4;Q15008	.;.;.;PSMD6_HUMAN	R	98;151;60;59;112;119	ENSP00000295901:S98R;ENSP00000418695:S151R;ENSP00000377952:S60R;ENSP00000419227:S59R;ENSP00000418887:S112R	ENSP00000295901:S98R	S	-	3	2	PSMD6	63983091	0.016000	0.18221	0.973000	0.42090	0.962000	0.63368	-0.660000	0.05317	-0.455000	0.07054	-1.202000	0.01658	AGC		0.453	PSMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352082.1	NM_014814	
CADM2	253559	hgsc.bcm.edu	37	3	86010737	86010737	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:86010737C>T	ENST00000407528.2	+	7	945	c.883C>T	c.(883-885)Cga>Tga	p.R295*	CADM2_ENST00000405615.2_Nonsense_Mutation_p.R297*|CADM2_ENST00000383699.3_Nonsense_Mutation_p.R304*	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	295	Ig-like C2-type 2.				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.R297*(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)		TGGTACATATCGATGTGAAGC	0.418																																					p.R304X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C910T	3						.						138.0	125.0	129.0					3																	86010737		2203	4300	6503	86093427	SO:0001587	stop_gained	253559	exon8			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.883C>T	3.37:g.86010737C>T	ENSP00000384575:p.Arg295*	Somatic		Capture	SOLID	Phase_I	86093427	NM_001167675	G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Nonsense_Mutation	SNP	ENST00000407528.2	37	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	C	37	6.389897	0.97529	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3022	0.94148	0.0:1.0:0.0:0.0	.	.	.	.	X	304;295;297	.	ENSP00000373200:R304X	R	+	1	2	CADM2	86093427	1.000000	0.71417	0.984000	0.44739	0.963000	0.63663	4.610000	0.61155	2.549000	0.85964	0.650000	0.86243	CGA		0.418	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184	
RNF168	165918	hgsc.bcm.edu	37	3	196199142	196199142	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr3:196199142C>A	ENST00000318037.3	-	6	1858	c.1264G>T	c.(1264-1266)Gaa>Taa	p.E422*	CTD-2002J20.1_ENST00000610042.1_RNA	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	422					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E422*(1)		NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		AAGTTTATTTCTGTTTCCTCT	0.378																																					p.E422X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1264T	3						.						138.0	133.0	134.0					3																	196199142		2203	4300	6503	197683539	SO:0001587	stop_gained	165918	exon6			AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.1264G>T	3.37:g.196199142C>A	ENSP00000320898:p.Glu422*	Somatic		Capture	SOLID	Phase_I	197683539	NM_152617	Q8NA67|Q96NS4	Nonsense_Mutation	SNP	ENST00000318037.3	37	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	C	40	8.099620	0.98654	.	.	ENSG00000163961	ENST00000318037	.	.	.	5.86	3.97	0.46021	.	0.454986	0.22735	N	0.056274	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-5.1268	10.9556	0.47356	0.0:0.7989:0.1303:0.0707	.	.	.	.	X	422	.	ENSP00000320898:E422X	E	-	1	0	RNF168	197683539	0.996000	0.38824	0.987000	0.45799	0.426000	0.31534	1.976000	0.40579	1.480000	0.48289	0.591000	0.81541	GAA		0.378	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617	
TMEM52B	120939	hgsc.bcm.edu	37	12	10332194	10332194	+	Silent	SNP	C	C	T	rs535551759		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:10332194C>T	ENST00000381923.2	+	2	425	c.21C>T	c.(19-21)gtC>gtT	p.V7V	TMEM52B_ENST00000536952.1_Silent_p.V7V|TMEM52B_ENST00000298530.3_Missense_Mutation_p.S2L			Q4KMG9	TM52B_HUMAN	transmembrane protein 52B	7						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S2L(1)									GAGTTCATGTCGTGGCGGCCT	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		17909	0.0		0.0	False		,,,				2504	0.001				p.S2L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5T	12						.						187.0	176.0	179.0					12																	10332194		2203	4300	6503	10223461	SO:0001819	synonymous_variant	120939	exon1			AY358845	CCDS8619.1, CCDS66314.1	12p13.2	2012-08-15	2012-08-15	2012-08-15	ENSG00000165685	ENSG00000165685			26438	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 59"""	C12orf59		12975309	Standard	XM_005253299		Approved	FLJ31166	uc001qxq.3	Q4KMG9	OTTHUMG00000168410	ENST00000381923.2:c.21C>T	12.37:g.10332194C>T		Somatic		Capture	SOLID	Phase_I	10223461	NM_153022	Q96NA7	Missense_Mutation	SNP	ENST00000381923.2	37		.	.	.	.	.	.	.	.	.	.	C	13.43	2.234019	0.39498	.	.	ENSG00000165685	ENST00000298530	.	.	.	5.13	-3.3	0.05003	.	.	.	.	.	T	0.23289	0.0563	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30851	-0.9964	7	0.87932	D	0	-1.0273	0.3384	0.00329	0.2688:0.2308:0.1405:0.3599	.	2	Q4KMG9-2	.	L	2	.	ENSP00000298530:S2L	S	+	2	0	C12orf59	10223461	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.674000	0.05233	-0.464000	0.06963	0.650000	0.86243	TCG		0.478	TMEM52B-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000399645.1	NM_153022	
BTBD11	121551	hgsc.bcm.edu	37	12	107914407	107914407	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:107914407G>A	ENST00000280758.5	+	2	1807	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	BTBD11_ENST00000420571.2_Missense_Mutation_p.E427K|BTBD11_ENST00000490090.2_Missense_Mutation_p.E427K	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	427						integral component of membrane (GO:0016021)		p.E427K(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CAGCATCGCCGAATTGAGTAA	0.562																																					p.E427K												.	.	2	Substitution - Missense(2)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.G1279A	12						.						114.0	102.0	106.0					12																	107914407		2203	4300	6503	106438537	SO:0001583	missense	121551	exon2			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1279G>A	12.37:g.107914407G>A	ENSP00000280758:p.Glu427Lys	Somatic		Capture	SOLID	Phase_I	106438537	NM_001018072	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238656	0.39598	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000415943	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	3.97	3.97	0.46021	.	0.150019	0.45867	D	0.000338	T	0.54175	0.1842	L	0.43152	1.355	0.80722	D	1	B;B;P	0.47604	0.229;0.136;0.898	B;B;B	0.38327	0.05;0.006;0.271	T	0.65529	-0.6146	10	0.72032	D	0.01	.	16.9431	0.86223	0.0:0.0:1.0:0.0	.	427;427;427	A6QL63-2;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	K	427;427;427;61	ENSP00000280758:E427K;ENSP00000413889:E427K;ENSP00000447319:E427K;ENSP00000407416:E61K	ENSP00000280758:E427K	E	+	1	0	BTBD11	106438537	1.000000	0.71417	0.904000	0.35570	0.019000	0.09904	9.273000	0.95719	2.159000	0.67721	0.561000	0.74099	GAA		0.562	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322	
HVCN1	84329	hgsc.bcm.edu	37	12	111089029	111089029	+	Silent	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:111089029G>T	ENST00000356742.5	-	5	1389	c.636C>A	c.(634-636)atC>atA	p.I212I	HVCN1_ENST00000439744.2_Silent_p.I192I|HVCN1_ENST00000242607.8_Silent_p.I212I|HVCN1_ENST00000548312.1_Silent_p.I212I			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	212					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)	p.I212I(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						TACCATTGATGATCCGGGCCA	0.602																																					p.I212I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C636A	12						.						54.0	45.0	48.0					12																	111089029		2203	4300	6503	109573412	SO:0001819	synonymous_variant	84329	exon6			BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"""Voltage-gated ion channels / Hydrogen voltage-gated channel"""	28240	protein-coding gene	gene with protein product	"""voltage sensor domain-only protein"""	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.636C>A	12.37:g.111089029G>T		Somatic		Capture	SOLID	Phase_I	109573412	NM_001040107	A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Silent	SNP	ENST00000356742.5	37	CCDS31900.1																																																																																				0.602	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369	
NAA25	80018	hgsc.bcm.edu	37	12	112479879	112479879	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:112479879C>A	ENST00000261745.4	-	20	2652	c.2404G>T	c.(2404-2406)Gaa>Taa	p.E802*		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	802						cytoplasm (GO:0005737)		p.E802*(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						AAACTATTTTCTATTCGTTCC	0.289																																					p.E802X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2404T	12						.						78.0	73.0	74.0					12																	112479879		2191	4293	6484	110964262	SO:0001587	stop_gained	80018	exon20			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.2404G>T	12.37:g.112479879C>A	ENSP00000261745:p.Glu802*	Somatic		Capture	SOLID	Phase_I	110964262	NM_024953	A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Nonsense_Mutation	SNP	ENST00000261745.4	37	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	C	36	5.696105	0.96802	.	.	ENSG00000111300	ENST00000261745;ENST00000550701	.	.	.	5.9	4.04	0.47022	.	0.106801	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-9.3987	15.9466	0.79799	0.0:0.7452:0.2548:0.0	.	.	.	.	X	802;8	.	ENSP00000261745:E802X	E	-	1	0	NAA25	110964262	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.913000	0.48790	0.795000	0.33922	-0.175000	0.13238	GAA		0.289	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953	
PTPN11	5781	hgsc.bcm.edu	37	12	112891035	112891035	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:112891035G>T	ENST00000351677.2	+	4	567	c.369G>T	c.(367-369)gaG>gaT	p.E123D	PTPN11_ENST00000392597.1_Missense_Mutation_p.E123D	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	123	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.E123D(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						AAGAAGCAGAGAAATTATTAA	0.373			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																												p.E123D			Dom	yes		12	12q24.1	5781	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G369T	12						.						86.0	90.0	88.0					12																	112891035		2203	4300	6503	111375418	SO:0001583	missense	5781	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	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.369G>T	12.37:g.112891035G>T	ENSP00000340944:p.Glu123Asp	Somatic		Capture	SOLID	Phase_I	111375418	NM_002834	A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412828	0.83340	.	.	ENSG00000179295	ENST00000392597;ENST00000351677;ENST00000392596	D;D	0.91894	-2.93;-2.93	5.55	3.73	0.42828	.	0.097447	0.64402	D	0.000002	D	0.95931	0.8675	M	0.86343	2.81	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	D;D	0.85130	0.967;0.997	D	0.95466	0.8547	10	0.87932	D	0	.	11.0723	0.48010	0.2077:0.0:0.7923:0.0	.	123;123	Q06124-2;Q06124-3	.;.	D	123	ENSP00000376376:E123D;ENSP00000340944:E123D	ENSP00000340944:E123D	E	+	3	2	PTPN11	111375418	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	4.084000	0.57650	0.718000	0.32166	0.555000	0.69702	GAG		0.373	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2		
HPD	3242	hgsc.bcm.edu	37	12	122294305	122294305	+	Silent	SNP	G	G	A	rs137989475		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:122294305G>A	ENST00000289004.4	-	6	284	c.249C>T	c.(247-249)ggC>ggT	p.G83G	HPD_ENST00000543163.1_Silent_p.G44G|RP11-7M8.2_ENST00000543848.1_RNA	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	83					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)	p.G83G(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	CCAGGTGATCGCCCATCTCTG	0.572																																					p.G44G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C132T	12						.	G	,	0,4406		0,0,2203	169.0	119.0	136.0		132,249	-8.3	0.1	12	dbSNP_134	136	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	HPD	NM_001171993.1,NM_002150.2	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	44/355,83/394	122294305	2,13004	2203	4300	6503	120778688	SO:0001819	synonymous_variant	3242	exon8			BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"""glyoxalase domain containing 3"""	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.249C>T	12.37:g.122294305G>A		Somatic		Capture	SOLID	Phase_I	120778688	NM_001171993	A8K461|B3KQ63|Q13234	Silent	SNP	ENST00000289004.4	37	CCDS9224.1																																																																																				0.572	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	NM_002150	
IL31	386653	hgsc.bcm.edu	37	12	122657127	122657127	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:122657127C>T	ENST00000377035.1	-	3	353	c.327G>A	c.(325-327)gaG>gaA	p.E109E		NM_001014336.1	NP_001014358.1	Q6EBC2	IL31_HUMAN	interleukin 31	109					immune system process (GO:0002376)	extracellular space (GO:0005615)		p.E109E(1)		central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TGTCGAGGTGCTCTATGATCT	0.448																																					p.E109E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G327A	12						.						253.0	209.0	224.0					12																	122657127		2203	4300	6503	121223080	SO:0001819	synonymous_variant	386653	exon3			AY499343	CCDS31919.1	12q24.31	2011-07-21			ENSG00000204671	ENSG00000204671		"""Interleukins and interleukin receptors"""	19372	protein-coding gene	gene with protein product		609509				15184896	Standard	NM_001014336		Approved	IL-31	uc001ubv.3	Q6EBC2	OTTHUMG00000168916	ENST00000377035.1:c.327G>A	12.37:g.122657127C>T		Somatic		Capture	SOLID	Phase_I	121223080	NM_001014336	A2RUQ1	Silent	SNP	ENST00000377035.1	37	CCDS31919.1																																																																																				0.448	IL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401594.1	NM_001014336	
TCTN2	79867	hgsc.bcm.edu	37	12	124163832	124163832	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:124163832A>C	ENST00000303372.5	+	5	688	c.560A>C	c.(559-561)gAc>gCc	p.D187A	TCTN2_ENST00000426174.2_Missense_Mutation_p.D186A	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	187	Cys-rich.				cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.D187A(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TGCTGCTGTGACCAGGTATGT	0.443																																					p.D187A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A560C	12						.						207.0	183.0	191.0					12																	124163832		2203	4300	6503	122729785	SO:0001583	missense	79867	exon5			AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.560A>C	12.37:g.124163832A>C	ENSP00000304941:p.Asp187Ala	Somatic		Capture	SOLID	Phase_I	122729785	NM_024809	A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	ENST00000303372.5	37	CCDS9253.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.176463	0.78564	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.96587	-4.06;-4.06	5.05	5.05	0.67936	Domain of unknown function DUF1619 (1);	0.000000	0.85682	D	0.000000	D	0.97967	0.9331	M	0.83603	2.65	0.53005	D	0.999964	D;D	0.67145	0.996;0.996	D;D	0.74348	0.983;0.983	D	0.98905	1.0778	10	0.87932	D	0	-2.17	14.502	0.67729	1.0:0.0:0.0:0.0	.	186;187	A8K7Y8;Q96GX1	.;TECT2_HUMAN	A	186;187	ENSP00000395171:D186A;ENSP00000304941:D187A	ENSP00000304941:D187A	D	+	2	0	TCTN2	122729785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.920000	0.87521	1.898000	0.54952	0.341000	0.21757	GAC		0.443	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809	
TMEM132D	121256	hgsc.bcm.edu	37	12	130015744	130015744	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:130015744C>T	ENST00000422113.2	-	3	1301	c.975G>A	c.(973-975)aaG>aaA	p.K325K		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	325					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.K325K(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)		CTTTCTTCACCTTTGCCCTGT	0.562																																					p.K325K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G975A	12						.						122.0	120.0	120.0					12																	130015744		2203	4300	6503	128581697	SO:0001819	synonymous_variant	121256	exon3			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.975G>A	12.37:g.130015744C>T		Somatic		Capture	SOLID	Phase_I	128581697	NM_133448	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	CCDS9266.1																																																																																				0.562	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
EP400	57634	hgsc.bcm.edu	37	12	132530326	132530326	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:132530326C>T	ENST00000333577.4	+	40	7298	c.7189C>T	c.(7189-7191)Cac>Tac	p.H2397Y	EP400_ENST00000389561.2_Missense_Mutation_p.H2361Y|EP400_ENST00000389562.2_Missense_Mutation_p.H2360Y|EP400_ENST00000330386.6_Missense_Mutation_p.H2280Y|EP400_ENST00000332482.4_Missense_Mutation_p.H2324Y			Q96L91	EP400_HUMAN	E1A binding protein p400	2397	Myb-like. {ECO:0000255|PROSITE- ProRule:PRU00133}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.H2360Y(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GTCACCTGCTCACACACCTAA	0.463																																					p.H2360Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7078T	12						.						162.0	121.0	135.0					12																	132530326		2203	4300	6503	131096279	SO:0001583	missense	57634	exon39			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.7189C>T	12.37:g.132530326C>T	ENSP00000333602:p.His2397Tyr	Somatic		Capture	SOLID	Phase_I	131096279	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	C	15.09	2.730704	0.48939	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.66528	0.2798	M	0.76002	2.32	0.48288	D	0.999623	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.69049	-0.5248	10	0.56958	D	0.05	.	18.7731	0.91900	0.0:1.0:0.0:0.0	.	2361;2280;2360	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	Y	2397;2361;2360;2324;2280;2361	ENSP00000333602:H2397Y;ENSP00000374212:H2361Y;ENSP00000374213:H2360Y;ENSP00000331737:H2324Y;ENSP00000330620:H2280Y	ENSP00000330620:H2280Y	H	+	1	0	EP400	131096279	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.487000	0.81328	2.439000	0.82584	0.655000	0.94253	CAC		0.463	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
SLC6A12	6539	hgsc.bcm.edu	37	12	307153	307153	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:307153C>T	ENST00000428720.1	-	9	1606	c.863G>A	c.(862-864)gGc>gAc	p.G288D	SLC6A12_ENST00000359674.4_Missense_Mutation_p.G288D|SLC6A12_ENST00000536824.1_Missense_Mutation_p.G288D|SLC6A12_ENST00000424061.2_Missense_Mutation_p.G288D|SLC6A12_ENST00000397296.2_Missense_Mutation_p.G288D|SLC6A12_ENST00000538272.1_5'UTR	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	288					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.G288D(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GATCTGGGTGCCCGCATCCAT	0.582																																					p.G288D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G863A	12						.						83.0	91.0	88.0					12																	307153		2203	4300	6503	177414	SO:0001583	missense	6539	exon10			L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.863G>A	12.37:g.307153C>T	ENSP00000388184:p.Gly288Asp	Somatic		Capture	SOLID	Phase_I	177414	NM_003044	A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	ENST00000428720.1	37	CCDS8501.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065979	0.76187	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824	T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87	3.95	3.95	0.45737	.	0.000000	0.85682	D	0.000000	D	0.91195	0.7226	H	0.98218	4.175	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.94777	0.7950	10	0.87932	D	0	.	16.2044	0.82114	0.0:1.0:0.0:0.0	.	288	P48065	S6A12_HUMAN	D	288	ENSP00000352702:G288D;ENSP00000380464:G288D;ENSP00000388184:G288D;ENSP00000399136:G288D;ENSP00000444268:G288D	ENSP00000352702:G288D	G	-	2	0	SLC6A12	177414	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	2.343000	0.44001	2.041000	0.60428	0.561000	0.74099	GGC		0.582	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044	
B4GALNT3	283358	hgsc.bcm.edu	37	12	674472	674472	+	IGR	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:674472C>T	ENST00000266383.5	+	0	5068				NINJ2_ENST00000537416.1_5'Flank|NINJ2_ENST00000397265.3_Missense_Mutation_p.V113I|NINJ2_ENST00000305108.4_Missense_Mutation_p.V166I|NINJ2_ENST00000542920.1_Missense_Mutation_p.V84I	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3						metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)	p.V166I(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GTAATGAAAACATTGATGACC	0.537																																					p.V166I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G496A	12						.						117.0	103.0	108.0					12																	674472		2203	4300	6503	544733	SO:0001628	intergenic_variant	4815	exon3			AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283		12.37:g.674472C>T		Somatic		Capture	SOLID	Phase_I	544733	NM_016533	Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	C	2.678	-0.275907	0.05679	.	.	ENSG00000171840	ENST00000305108;ENST00000397265;ENST00000542920	T;T;T	0.48201	0.82;0.82;0.82	4.97	0.185	0.15096	.	0.476493	0.21029	N	0.081372	T	0.18718	0.0449	N	0.05012	-0.13	0.80722	D	1	B	0.10296	0.003	B	0.12156	0.007	T	0.30563	-0.9974	10	0.02654	T	1	-13.6295	8.0984	0.30842	0.0:0.2332:0.0:0.7668	.	120	Q9NZG7	NINJ2_HUMAN	I	166;113;84	ENSP00000307552:V166I;ENSP00000380435:V113I;ENSP00000438831:V84I	ENSP00000307552:V166I	V	-	1	0	NINJ2	544733	0.844000	0.29557	0.483000	0.27378	0.858000	0.48976	0.344000	0.19962	0.116000	0.18110	0.491000	0.48974	GTT		0.537	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593	
NINJ2	4815	hgsc.bcm.edu	37	12	772502	772502	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:772502C>T	ENST00000305108.4	-	1	443	c.163G>A	c.(163-165)Gac>Aac	p.D55N	RP11-218M22.1_ENST00000543884.1_RNA	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	ninjurin 2	9					nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|tissue regeneration (GO:0042246)	integral component of plasma membrane (GO:0005887)		p.D55N(1)		large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			ACTTGAAGGTCGATGTTTTCT	0.542																																					p.D55N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G163A	12						.						128.0	127.0	127.0					12																	772502		2203	4300	6503	642763	SO:0001583	missense	4815	exon1			AF205633	CCDS8505.1, CCDS73418.1	12p13	2008-08-05			ENSG00000171840	ENSG00000171840			7825	protein-coding gene	gene with protein product		607297				10627596	Standard	XM_005253689		Approved		uc001qil.3	Q9NZG7	OTTHUMG00000090311	ENST00000305108.4:c.163G>A	12.37:g.772502C>T	ENSP00000307552:p.Asp55Asn	Somatic		Capture	SOLID	Phase_I	642763	NM_016533		Missense_Mutation	SNP	ENST00000305108.4	37	CCDS8505.1	.	.	.	.	.	.	.	.	.	.	C	5.935	0.356480	0.11239	.	.	ENSG00000171840	ENST00000305108	T	0.50813	0.73	4.84	-5.51	0.02568	.	0.823808	0.10477	N	0.670064	T	0.17195	0.0413	N	0.02539	-0.55	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.33624	-0.9861	10	0.10377	T	0.69	-1.1109	10.7894	0.46424	0.0:0.2967:0.0945:0.6088	.	55;9	B4DJC1;Q9NZG7	.;NINJ2_HUMAN	N	55	ENSP00000307552:D55N	ENSP00000307552:D55N	D	-	1	0	NINJ2	642763	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.907000	0.04067	-2.144000	0.00802	-0.797000	0.03246	GAC		0.542	NINJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206673.2	NM_016533	
MRPL51	51258	hgsc.bcm.edu	37	12	6601442	6601442	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:6601442G>A	ENST00000229238.3	-	3	843	c.382C>T	c.(382-384)Cga>Tga	p.R128*	NCAPD2_ENST00000315579.5_5'Flank|MRPL51_ENST00000543703.1_Nonsense_Mutation_p.R32*|NCAPD2_ENST00000545962.1_5'Flank|MRPL51_ENST00000543164.1_5'UTR	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	128					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)	p.R128*(2)		kidney(2)|large_intestine(1)|lung(3)	6						CTCTTCTATCGAAACTTCCCA	0.438																																					p.R128X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|lung(1)	c.C382T	12						.						159.0	150.0	153.0					12																	6601442		2203	4300	6503	6471703	SO:0001587	stop_gained	51258	exon3			AB051355	CCDS8547.1	12p13.3-p13.1	2014-02-19	2002-01-07	2002-01-11		ENSG00000111639		"""Mitochondrial ribosomal proteins / large subunits"""	14044	protein-coding gene	gene with protein product		611855	"""mitochondrial ribosomal protein 64"""	MRP64		11551941, 11543634	Standard	NM_016497		Approved	CDA09, HSPC241, bMRP64	uc001qom.2	Q4U2R6		ENST00000229238.3:c.382C>T	12.37:g.6601442G>A	ENSP00000229238:p.Arg128*	Somatic		Capture	SOLID	Phase_I	6471703	NM_016497	Q96Q57|Q9BQ36|Q9P0N7	Nonsense_Mutation	SNP	ENST00000229238.3	37	CCDS8547.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097137	0.76870	.	.	ENSG00000111639	ENST00000229238	.	.	.	5.32	3.37	0.38596	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.36528	D	0.870564	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.776	13.4714	0.61283	0.0:0.0:0.7058:0.2942	.	.	.	.	X	128	.	ENSP00000229238:R128X	R	-	1	2	MRPL51	6471703	1.000000	0.71417	0.134000	0.22075	0.010000	0.07245	3.864000	0.56024	0.519000	0.28406	0.462000	0.41574	CGA		0.438	MRPL51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399956.1	NM_016497	
C1S	716	hgsc.bcm.edu	37	12	7177176	7177176	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:7177176G>T	ENST00000406697.1	+	15	1916	c.1288G>T	c.(1288-1290)Gaa>Taa	p.E430*	C1S_ENST00000402681.3_Nonsense_Mutation_p.E263*|C1S_ENST00000495061.1_3'UTR|C1S_ENST00000328916.3_Nonsense_Mutation_p.E430*|C1S_ENST00000360817.5_Nonsense_Mutation_p.E430*			P09871	C1S_HUMAN	complement component 1, s subcomponent	430					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)	p.E430*(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	AGTCCCCAGAGAACCCTTTGA	0.458																																					p.E430X	GBM(156;750 1943 12971 24779 31015)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1288T	12						.						85.0	88.0	87.0					12																	7177176		2203	4300	6503	7047437	SO:0001587	stop_gained	716	exon12				CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1288G>T	12.37:g.7177176G>T	ENSP00000385035:p.Glu430*	Somatic		Capture	SOLID	Phase_I	7047437	NM_001734	D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Nonsense_Mutation	SNP	ENST00000406697.1	37	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	G	39	7.510567	0.98329	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	.	.	.	4.78	-2.22	0.06952	.	0.340062	0.21397	N	0.075208	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	5.594	0.17317	0.4958:0.2726:0.2316:0.0	.	.	.	.	X	430;430;430;424;263	.	ENSP00000328173:E430X	E	+	1	0	C1S	7047437	0.000000	0.05858	0.000000	0.03702	0.319000	0.28217	-0.012000	0.12699	-0.277000	0.09193	0.462000	0.41574	GAA		0.458	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734	
PTPRO	5800	hgsc.bcm.edu	37	12	15733642	15733642	+	Silent	SNP	A	A	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:15733642A>G	ENST00000281171.4	+	22	3339	c.3009A>G	c.(3007-3009)tcA>tcG	p.S1003S	PTPRO_ENST00000442921.2_Silent_p.S192S|PTPRO_ENST00000445537.2_Silent_p.S192S|PTPRO_ENST00000542557.1_Silent_p.S164S|PTPRO_ENST00000544244.1_Silent_p.S164S|PTPRO_ENST00000348962.2_Silent_p.S975S	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1003	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.S1003S(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GATACAACTCACCCCAGGAGT	0.438																																					p.S192S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A576G	12						.						97.0	91.0	93.0					12																	15733642		2203	4300	6503	15624909	SO:0001819	synonymous_variant	5800	exon10			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.3009A>G	12.37:g.15733642A>G		Somatic		Capture	SOLID	Phase_I	15624909	NM_030671	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	CCDS8675.1																																																																																				0.438	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1		
CAPZA3	93661	hgsc.bcm.edu	37	12	18891381	18891381	+	Missense_Mutation	SNP	C	C	A	rs577490193		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:18891381C>A	ENST00000317658.3	+	1	337	c.179C>A	c.(178-180)tCt>tAt	p.S60Y	PLCZ1_ENST00000539875.1_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|PLCZ1_ENST00000266505.7_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	60					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)		p.S60Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				CAAAAATATTCTGTACCACTC	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		20002	0.0		0.0	False		,,,				2504	0.001				p.S60Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C179A	12						.						126.0	115.0	119.0					12																	18891381		2203	4300	6503	18782648	SO:0001583	missense	93661	exon1			AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.179C>A	12.37:g.18891381C>A	ENSP00000326238:p.Ser60Tyr	Somatic		Capture	SOLID	Phase_I	18782648	NM_033328	Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	C	8.809	0.934830	0.18206	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.57	-4.12	0.03916	.	0.275564	0.35378	N	0.003255	T	0.19644	0.0472	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05273	-1.0895	9	0.72032	D	0.01	-4.576	2.481	0.04587	0.3735:0.1599:0.3632:0.1034	.	60	Q96KX2	CAZA3_HUMAN	Y	60	.	ENSP00000326238:S60Y	S	+	2	0	CAPZA3	18782648	0.549000	0.26481	0.042000	0.18584	0.983000	0.72400	0.066000	0.14489	-0.616000	0.05671	0.462000	0.41574	TCT		0.418	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328	
SLCO1C1	53919	hgsc.bcm.edu	37	12	20903649	20903649	+	Silent	SNP	T	T	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:20903649T>C	ENST00000266509.2	+	14	2207	c.1839T>C	c.(1837-1839)gaT>gaC	p.D613D	SLCO1C1_ENST00000545102.1_Silent_p.D495D|SLCO1C1_ENST00000381552.1_Silent_p.D613D|SLCO1C1_ENST00000545604.1_Silent_p.D613D|SLCO1C1_ENST00000540354.1_Silent_p.D564D	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	613					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.D613D(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TTTTGATTGATACTTCATGCC	0.363																																					p.D613D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1839C	12						.						119.0	113.0	115.0					12																	20903649		2203	4300	6503	20794916	SO:0001819	synonymous_variant	53919	exon14			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1839T>C	12.37:g.20903649T>C		Somatic		Capture	SOLID	Phase_I	20794916	NM_017435	B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Silent	SNP	ENST00000266509.2	37	CCDS8683.1																																																																																				0.363	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435	
ABCC9	10060	hgsc.bcm.edu	37	12	22028599	22028599	+	Missense_Mutation	SNP	C	C	T	rs267603424		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:22028599C>T	ENST00000261201.4	-	15	2080	c.2081G>A	c.(2080-2082)cGa>cAa	p.R694Q	ABCC9_ENST00000261200.4_Missense_Mutation_p.R694Q|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.R658Q	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	694	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.R694Q(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TGTTGGAATTCGAATATCTAT	0.308																																					p.R658Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1973A	12						.						73.0	74.0	74.0					12																	22028599		2203	4300	6503	21919866	SO:0001583	missense	10060	exon14			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2081G>A	12.37:g.22028599C>T	ENSP00000261201:p.Arg694Gln	Somatic		Capture	SOLID	Phase_I	21919866	NM_020298	O60707	Missense_Mutation	SNP	ENST00000261201.4	37	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123876	0.37436	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24	5.55	2.71	0.32032	ABC transporter-like (1);	0.186354	0.48767	N	0.000179	T	0.77246	0.4102	N	0.10645	0.015	0.38274	D	0.942232	B;P	0.44816	0.403;0.844	B;B	0.32864	0.018;0.154	T	0.73990	-0.3808	10	0.10111	T	0.7	-1.9232	4.8364	0.13468	0.1398:0.5701:0.0:0.2902	.	694;694	O60706;O60706-2	ABCC9_HUMAN;.	Q	694;321;694;658	ENSP00000261200:R694Q;ENSP00000440521:R321Q;ENSP00000261201:R694Q;ENSP00000261202:R658Q	ENSP00000261200:R694Q	R	-	2	0	ABCC9	21919866	1.000000	0.71417	0.998000	0.56505	0.751000	0.42716	1.572000	0.36461	0.285000	0.22329	-0.338000	0.08134	CGA		0.308	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	
ETNK1	55500	hgsc.bcm.edu	37	12	22812085	22812085	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:22812085A>C	ENST00000266517.4	+	3	910	c.821A>C	c.(820-822)aAa>aCa	p.K274T		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	274					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)	p.K274T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GACATTAATAAAAGGTAAAAT	0.323																																					p.K274T	Esophageal Squamous(42;87 913 3224 6226 43339)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A821C	12						.						42.0	43.0	43.0					12																	22812085		2203	4300	6503	22703352	SO:0001583	missense	55500	exon3			BC006111	CCDS8698.1, CCDS41760.1	12p12.2	2004-07-09			ENSG00000139163	ENSG00000139163			24649	protein-coding gene	gene with protein product		609858				11912161, 11044454	Standard	XM_005253420		Approved	EKI1, EKI	uc001rft.3	Q9HBU6	OTTHUMG00000169008	ENST00000266517.4:c.821A>C	12.37:g.22812085A>C	ENSP00000266517:p.Lys274Thr	Somatic		Capture	SOLID	Phase_I	22703352	NM_018638	G5E969	Missense_Mutation	SNP	ENST00000266517.4	37	CCDS8698.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.88|12.88	2.069653|2.069653	0.36470|0.36470	.|.	.|.	ENSG00000139163|ENSG00000139163	ENST00000538218;ENST00000541247|ENST00000266517;ENST00000381409	T|T	0.56776|0.56444	0.44|0.46	5.46|5.46	5.46|5.46	0.80206|0.80206	.|Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.495778|0.495778	0.23162|0.23162	N|N	0.051228|0.051228	T|T	0.43545|0.43545	0.1252|0.1252	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|B;B	.|0.18310	.|0.027;0.009	.|B;B	.|0.22152	.|0.038;0.01	T|T	0.28235|0.28235	-1.0050|-1.0050	8|10	0.23891|0.33141	T|T	0.37|0.24	-1.2999|-1.2999	13.7582|13.7582	0.62950|0.62950	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|274;274	.|E9PD44;Q9HBU6	.|.;EKI1_HUMAN	Q|T	265;154|274	ENSP00000446292:K265Q|ENSP00000266517:K274T	ENSP00000446292:K265Q|ENSP00000266517:K274T	K|K	+|+	1|2	0|0	ETNK1|ETNK1	22703352|22703352	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	2.207000|2.207000	0.42788|0.42788	2.079000|2.079000	0.62486|0.62486	0.528000|0.528000	0.53228|0.53228	AAA|AAA		0.323	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401926.2	NM_018638	
SOX5	6660	hgsc.bcm.edu	37	12	23716202	23716202	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:23716202C>T	ENST00000451604.2	-	11	1579	c.1478G>A	c.(1477-1479)cGa>cAa	p.R493Q	SOX5_ENST00000309359.1_Missense_Mutation_p.R480Q|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000537393.1_Missense_Mutation_p.R458Q|SOX5_ENST00000396007.2_Missense_Mutation_p.R107Q|SOX5_ENST00000545921.1_Missense_Mutation_p.R483Q|SOX5_ENST00000546136.1_Missense_Mutation_p.R480Q|SOX5_ENST00000381381.2_Intron			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	493					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R493Q(1)|p.R493L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTTTTCTGTTCGGCAGTTATT	0.368																																					p.R493Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1478A	12						.						129.0	118.0	122.0					12																	23716202		2203	4300	6503	23607469	SO:0001583	missense	6660	exon11			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1478G>A	12.37:g.23716202C>T	ENSP00000398273:p.Arg493Gln	Somatic		Capture	SOLID	Phase_I	23607469	NM_006940	B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904041	0.92035	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000396007;ENST00000545921	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.64538	0.2607	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;P;P	0.72338	0.977;0.892;0.852	T	0.56062	-0.8041	10	0.23302	T	0.38	.	20.2314	0.98350	0.0:1.0:0.0:0.0	.	458;493;107	F5H0I3;P35711;P35711-3	.;SOX5_HUMAN;.	Q	480;480;493;445;458;107;483	ENSP00000437487:R480Q;ENSP00000308927:R480Q;ENSP00000398273:R493Q;ENSP00000439832:R458Q;ENSP00000379328:R107Q;ENSP00000443520:R483Q	ENSP00000308927:R480Q	R	-	2	0	SOX5	23607469	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	7.474000	0.81024	2.789000	0.95967	0.591000	0.81541	CGA		0.368	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940	
KRAS	3845	hgsc.bcm.edu	37	12	25378562	25378562	+	Missense_Mutation	SNP	C	C	T	rs121913527		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:25378562C>T	ENST00000256078.4	-	4	499	c.436G>A	c.(436-438)Gca>Aca	p.A146T	AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Missense_Mutation_p.A146T|KRAS_ENST00000557334.1_Intron	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	146			A -> T (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.A146T(75)|p.A146P(7)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGTCTTTGCTGATGTTTCA	0.323	A146T(AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|A146T(LS1034_LARGE_INTESTINE)|A146T(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.A146T	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	KRAS,large_intestine,NS,Substitution - Missense,0	.	82	Substitution - Missense(82)	large_intestine(69)|haematopoietic_and_lymphoid_tissue(11)|lung(2)	c.G436A	12						.						207.0	188.0	195.0					12																	25378562		2203	4300	6503	25269829	SO:0001583	missense	3845	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;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.436G>A	12.37:g.25378562C>T	ENSP00000256078:p.Ala146Thr	Somatic		Capture	SOLID	Phase_I	25269829	NM_033360	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	33	5.234460	0.95207	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.88741	-2.42;-2.42	5.52	5.52	0.82312	Small GTP-binding protein domain (1);	0.045975	0.85682	D	0.000000	D	0.96639	0.8903	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;0.963	D;P	0.76071	0.987;0.876	D	0.97524	1.0075	10	0.72032	D	0.01	.	18.7849	0.91951	0.0:1.0:0.0:0.0	.	146;146	P01116-2;P01116	.;RASK_HUMAN	T	146	ENSP00000308495:A146T;ENSP00000256078:A146T	ENSP00000256078:A146T	A	-	1	0	KRAS	25269829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.762000	0.85270	2.757000	0.94681	0.585000	0.79938	GCA		0.323	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
CCDC91	55297	hgsc.bcm.edu	37	12	28603320	28603320	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:28603320G>T	ENST00000545336.1	+	13	1312	c.893G>T	c.(892-894)aGa>aTa	p.R298I	CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381259.1_Missense_Mutation_p.R298I|CCDC91_ENST00000381256.1_Missense_Mutation_p.R262I|CCDC91_ENST00000306172.5_Missense_Mutation_p.R268I|CCDC91_ENST00000539107.1_Missense_Mutation_p.R262I			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	298	Homodimerization.				protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R298I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GAAAGGCAAAGAAATAAAGAG	0.313																																					p.R298I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G893T	12						.						124.0	134.0	131.0					12																	28603320		2203	4299	6502	28494587	SO:0001583	missense	55297	exon9			AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.893G>T	12.37:g.28603320G>T	ENSP00000438040:p.Arg298Ile	Somatic		Capture	SOLID	Phase_I	28494587	NM_018318	B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	ENST00000545336.1	37	CCDS8716.1	.	.	.	.	.	.	.	.	.	.	g	16.36	3.100412	0.56183	.	.	ENSG00000123106	ENST00000540794;ENST00000536154;ENST00000539107;ENST00000536442;ENST00000545336;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172	T;T;T;T;T;T;T;T;T	0.54071	0.59;1.22;0.95;1.1;1.19;1.1;1.19;0.95;1.16	5.83	0.192	0.15134	.	0.374698	0.25285	N	0.031765	T	0.39384	0.1076	N	0.19112	0.55	0.40281	D	0.978395	B;B;B	0.32781	0.384;0.384;0.384	B;B;B	0.40477	0.246;0.33;0.33	T	0.30765	-0.9967	10	0.66056	D	0.02	-4.0993	9.293	0.37797	0.4005:0.0:0.5995:0.0	.	262;298;268	Q7Z6B0-3;Q7Z6B0;Q7Z6B0-2	.;CCD91_HUMAN;.	I	94;38;262;298;298;298;298;262;268	ENSP00000441714:R94I;ENSP00000444440:R38I;ENSP00000440513:R262I;ENSP00000445660:R298I;ENSP00000438040:R298I;ENSP00000442544:R298I;ENSP00000370658:R298I;ENSP00000370655:R262I;ENSP00000305075:R268I	ENSP00000305075:R268I	R	+	2	0	CCDC91	28494587	0.937000	0.31787	0.995000	0.50966	0.990000	0.78478	-0.163000	0.09997	-0.013000	0.14199	0.586000	0.80456	AGA		0.313	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318	
CAPRIN2	65981	hgsc.bcm.edu	37	12	30888067	30888067	+	Missense_Mutation	SNP	C	C	T	rs139487645	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:30888067C>T	ENST00000395805.2	-	4	1191	c.644G>A	c.(643-645)cGa>cAa	p.R215Q	CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.R215Q|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.R215Q|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.R215Q	NM_001206856.1	NP_001193785.1			caprin family member 2									p.R215Q(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AAGTATAGTTCGAAGCTTTTT	0.413																																					p.R215Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G644A	12						.	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	182.0	172.0	175.0		644,644,644,644	3.7	1.0	12	dbSNP_134	175	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	CAPRIN2	NM_001002259.1,NM_001206856.1,NM_023925.3,NM_032156.3	43,43,43,43	0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	215/1128,215/906,215/1078,215/961	30888067	5,13001	2203	4300	6503	30779334	SO:0001583	missense	65981	exon4			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.644G>A	12.37:g.30888067C>T	ENSP00000379150:p.Arg215Gln	Somatic		Capture	SOLID	Phase_I	30779334	NM_023925		Missense_Mutation	SNP	ENST00000395805.2	37	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.817715	0.71028	9.08E-4	1.16E-4	ENSG00000110888	ENST00000298892;ENST00000395805;ENST00000251071;ENST00000417045;ENST00000537108;ENST00000541765;ENST00000543380;ENST00000542550	T;T;T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0	4.61	3.72	0.42706	.	0.400491	0.26594	N	0.023513	T	0.21468	0.0517	L	0.49126	1.545	0.80722	D	1	D;D;D;D;P	0.60575	0.988;0.979;0.98;0.971;0.891	B;P;P;P;B	0.44897	0.336;0.463;0.462;0.455;0.273	T	0.01951	-1.1241	10	0.62326	D	0.03	-2.0219	9.0864	0.36584	0.0:0.8335:0.0:0.1665	.	215;215;215;215;215	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;CAPR2_HUMAN;.;.	Q	215;215;215;215;134;12;12;134	ENSP00000298892:R215Q;ENSP00000379150:R215Q;ENSP00000251071:R215Q;ENSP00000391479:R215Q;ENSP00000438010:R134Q;ENSP00000444137:R12Q;ENSP00000440785:R12Q;ENSP00000443353:R134Q	ENSP00000251071:R215Q	R	-	2	0	CAPRIN2	30779334	0.994000	0.37717	0.985000	0.45067	0.983000	0.72400	1.955000	0.40372	1.155000	0.42497	-0.218000	0.12543	CGA		0.413	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925	
YARS2	51067	hgsc.bcm.edu	37	12	32900293	32900293	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:32900293G>A	ENST00000324868.8	-	5	1306	c.1279C>T	c.(1279-1281)Cga>Tga	p.R427*	YARS2_ENST00000551673.1_5'UTR	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	427					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)	p.R427*(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	GTTATCATTCGATACCTAAAA	0.373																																					p.R427X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1279T	12						.						76.0	76.0	76.0					12																	32900293		2203	4300	6503	32791560	SO:0001587	stop_gained	51067	exon5			AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	24249	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 2, mitochondrial"""	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.1279C>T	12.37:g.32900293G>A	ENSP00000320658:p.Arg427*	Somatic		Capture	SOLID	Phase_I	32791560	NM_001040436	D3DUW8|Q9H817	Nonsense_Mutation	SNP	ENST00000324868.8	37	CCDS31770.1	.	.	.	.	.	.	.	.	.	.	G	36	5.693406	0.96793	.	.	ENSG00000139131	ENST00000324868	.	.	.	5.69	3.76	0.43208	.	0.385850	0.28077	N	0.016687	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-22.8744	10.6213	0.45481	0.0:0.1286:0.6047:0.2666	.	.	.	.	X	427	.	ENSP00000320658:R427X	R	-	1	2	YARS2	32791560	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.128000	0.50492	1.366000	0.46076	0.460000	0.39030	CGA		0.373	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404153.1	NM_015936	
LRRK2	120892	hgsc.bcm.edu	37	12	40707832	40707832	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:40707832A>C	ENST00000298910.7	+	32	4653	c.4595A>C	c.(4594-4596)aAa>aCa	p.K1532T	LRRK2_ENST00000481256.1_3'UTR	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1532					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.K1532T(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GAACTTGAAAAAATCATTTTA	0.353																																					p.K1532T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A4595C	12						.						66.0	67.0	67.0					12																	40707832		2203	4300	6503	38994099	SO:0001583	missense	120892	exon32			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.4595A>C	12.37:g.40707832A>C	ENSP00000298910:p.Lys1532Thr	Somatic		Capture	SOLID	Phase_I	38994099	NM_198578	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	16.77	3.214051	0.58452	.	.	ENSG00000188906	ENST00000298910	T	0.72942	-0.7	5.92	5.92	0.95590	.	0.175216	0.47852	D	0.000212	T	0.64170	0.2574	L	0.53249	1.67	0.47584	D	0.999461	P;P	0.48640	0.828;0.913	B;B	0.38562	0.212;0.276	T	0.68239	-0.5461	10	0.49607	T	0.09	.	12.2153	0.54402	0.9321:0.0:0.0679:0.0	.	1532;1532	Q17RV3;Q5S007	.;LRRK2_HUMAN	T	1532	ENSP00000298910:K1532T	ENSP00000298910:K1532T	K	+	2	0	LRRK2	38994099	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.815000	0.55651	2.267000	0.75376	0.477000	0.44152	AAA		0.353	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
PDZRN4	29951	hgsc.bcm.edu	37	12	41967381	41967381	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:41967381G>A	ENST00000402685.2	+	10	2808	c.2800G>A	c.(2800-2802)Gag>Aag	p.E934K	PDZRN4_ENST00000298919.7_Missense_Mutation_p.E674K|PDZRN4_ENST00000539469.2_Missense_Mutation_p.E676K	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	934							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E676K(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CACCATGAGCGAGATGAAAAT	0.547																																					p.E934K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2800A	12						.						95.0	90.0	92.0					12																	41967381		2203	4300	6503	40253648	SO:0001583	missense	29951	exon10			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2800G>A	12.37:g.41967381G>A	ENSP00000384197:p.Glu934Lys	Somatic		Capture	SOLID	Phase_I	40253648	NM_001164595	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	31	5.096144	0.94197	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.44482	0.92;0.92;0.92	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.70404	0.3220	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.995	T	0.74674	-0.3586	10	0.87932	D	0	-37.6407	19.7189	0.96135	0.0:0.0:1.0:0.0	.	934;674;676	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	K	934;676;674	ENSP00000384197:E934K;ENSP00000439990:E676K;ENSP00000298919:E674K	ENSP00000298919:E674K	E	+	1	0	PDZRN4	40253648	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.834000	0.97654	0.650000	0.86243	GAG		0.547	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377	
PPHLN1	51535	hgsc.bcm.edu	37	12	42745722	42745722	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:42745722G>T	ENST00000395568.2	+	3	192	c.108G>T	c.(106-108)aaG>aaT	p.K36N	PPHLN1_ENST00000549190.1_Missense_Mutation_p.K54N|PPHLN1_ENST00000358314.7_Missense_Mutation_p.K36N|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000337898.6_Intron|PPHLN1_ENST00000552761.1_Intron|PPHLN1_ENST00000449194.2_Missense_Mutation_p.K36N|PPHLN1_ENST00000432191.2_Intron|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000395580.3_Missense_Mutation_p.K43N	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	36					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K36N(2)		breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TTGTGCCAAAGAAACCACCAC	0.368																																					p.K36N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G108T	12						.						78.0	73.0	74.0					12																	42745722		2203	4300	6503	41031989	SO:0001583	missense	51535	exon3			AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.108G>T	12.37:g.42745722G>T	ENSP00000378935:p.Lys36Asn	Somatic		Capture	SOLID	Phase_I	41031989	NM_001143788	E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Missense_Mutation	SNP	ENST00000395568.2	37	CCDS31777.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449490	0.84101	.	.	ENSG00000134283	ENST00000549190;ENST00000395580;ENST00000358314;ENST00000395568;ENST00000449194;ENST00000546750;ENST00000547847;ENST00000551658	.	.	.	6.17	6.17	0.99709	.	0.228496	0.38959	N	0.001513	T	0.76615	0.4012	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.974;0.999;0.999;0.999	D;P;D;D;D	0.69479	0.915;0.563;0.964;0.964;0.964	T	0.76217	-0.3040	9	0.66056	D	0.02	-0.2268	18.0353	0.89301	0.0:0.0:1.0:0.0	.	36;36;36;43;54	Q8NEY8;E9PAX8;Q8NEY8-8;Q8NEY8-2;F8W0Q9	PPHLN_HUMAN;.;.;.;.	N	54;43;36;36;36;43;36;24	.	ENSP00000351066:K36N	K	+	3	2	PPHLN1	41031989	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.153000	0.71819	2.941000	0.99782	0.655000	0.94253	AAG		0.368	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515	
PRICKLE1	144165	hgsc.bcm.edu	37	12	42853648	42853648	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:42853648T>G	ENST00000455697.1	-	8	2744	c.2459A>C	c.(2458-2460)aAa>aCa	p.K820T	PRICKLE1_ENST00000548696.1_Missense_Mutation_p.K820T|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.K820T|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.K820T|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.K820T	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	820	Poly-Lys.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.K820T(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GTGTCCCTTTTTCTTCTTGGA	0.413																																					p.K820T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2459C	12						.						184.0	176.0	178.0					12																	42853648		2203	4300	6503	41139915	SO:0001583	missense	144165	exon8			AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.2459A>C	12.37:g.42853648T>G	ENSP00000401060:p.Lys820Thr	Somatic		Capture	SOLID	Phase_I	41139915	NM_001144882	Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	T	13.45	2.240355	0.39598	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08	5.57	4.44	0.53790	.	0.041580	0.85682	D	0.000000	T	0.38241	0.1033	N	0.08118	0	0.49389	D	0.999784	P	0.46706	0.883	B	0.37943	0.261	T	0.42666	-0.9438	10	0.87932	D	0	-26.0649	9.3185	0.37948	0.0:0.1441:0.0:0.8559	.	820	Q96MT3	PRIC1_HUMAN	T	820	ENSP00000401060:K820T;ENSP00000398947:K820T;ENSP00000448359:K820T;ENSP00000345064:K820T;ENSP00000449819:K820T	ENSP00000345064:K820T	K	-	2	0	PRICKLE1	41139915	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.849000	0.39318	1.062000	0.40625	0.533000	0.62120	AAA		0.413	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1		
PRICKLE1	144165	hgsc.bcm.edu	37	12	42858860	42858860	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:42858860G>A	ENST00000455697.1	-	7	1261	c.976C>T	c.(976-978)Cga>Tga	p.R326*	PRICKLE1_ENST00000552240.1_Nonsense_Mutation_p.R326*|PRICKLE1_ENST00000445766.2_Nonsense_Mutation_p.R326*|PRICKLE1_ENST00000345127.3_Nonsense_Mutation_p.R326*|PRICKLE1_ENST00000548696.1_Nonsense_Mutation_p.R326*|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	326					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R326*(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TCTCTTGATCGAGCTGACTGA	0.502																																					p.R326X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C976T	12						.						121.0	120.0	120.0					12																	42858860		2203	4300	6503	41145127	SO:0001587	stop_gained	144165	exon7			AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.976C>T	12.37:g.42858860G>A	ENSP00000401060:p.Arg326*	Somatic		Capture	SOLID	Phase_I	41145127	NM_001144882	Q14C83|Q71QF8|Q96N00	Nonsense_Mutation	SNP	ENST00000455697.1	37	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	G	37	6.627693	0.97718	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	.	.	.	5.12	3.15	0.36227	.	0.054737	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8645	13.6234	0.62150	0.0:0.0:0.6124:0.3876	.	.	.	.	X	326	.	ENSP00000345064:R326X	R	-	1	2	PRICKLE1	41145127	0.993000	0.37304	0.041000	0.18516	0.987000	0.75469	2.215000	0.42862	1.248000	0.43934	0.650000	0.86243	CGA		0.502	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1		
SLC38A4	55089	hgsc.bcm.edu	37	12	47172076	47172076	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:47172076T>C	ENST00000447411.1	-	11	1275	c.1069A>G	c.(1069-1071)Aaa>Gaa	p.K357E	SLC38A4_ENST00000266579.4_Missense_Mutation_p.K357E	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	357					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)	p.K357E(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CCTTACTCTTTAAGTTCACTG	0.388																																					p.K357E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1069G	12						.						109.0	106.0	107.0					12																	47172076		2203	4299	6502	45458343	SO:0001583	missense	55089	exon11			AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"""Solute carriers"""	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.1069A>G	12.37:g.47172076T>C	ENSP00000389843:p.Lys357Glu	Somatic		Capture	SOLID	Phase_I	45458343	NM_001143824	A8K553	Missense_Mutation	SNP	ENST00000447411.1	37	CCDS8750.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.156122	0.78114	.	.	ENSG00000139209	ENST00000447411;ENST00000266579	T;T	0.02890	4.12;4.12	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.12518	0.0304	M	0.67700	2.07	0.58432	D	0.999999	D	0.55800	0.973	D	0.64506	0.926	T	0.02505	-1.1149	10	0.33940	T	0.23	.	16.0973	0.81135	0.0:0.0:0.0:1.0	.	357	Q969I6	S38A4_HUMAN	E	357	ENSP00000389843:K357E;ENSP00000266579:K357E	ENSP00000266579:K357E	K	-	1	0	SLC38A4	45458343	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.997000	0.88414	2.263000	0.75096	0.377000	0.23210	AAA		0.388	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1		
AQP6	363	hgsc.bcm.edu	37	12	50367073	50367073	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:50367073C>A	ENST00000315520.5	+	1	454	c.117C>A	c.(115-117)ttC>ttA	p.F39L	AQP6_ENST00000551733.1_Intron	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	39					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.F39L(1)		endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						TGTATGTGTTCTTTGGCGTGG	0.612																																					p.F39L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C117A	12						.						159.0	138.0	145.0					12																	50367073		2203	4300	6503	48653340	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.117C>A	12.37:g.50367073C>A	ENSP00000320247:p.Phe39Leu	Somatic		Capture	SOLID	Phase_I	48653340	NM_001652		Missense_Mutation	SNP	ENST00000315520.5	37	CCDS31798.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983879	0.53827	.	.	ENSG00000086159	ENST00000315520	D	0.87029	-2.2	5.37	4.48	0.54585	Aquaporin-like (2);	0.000000	0.64402	D	0.000015	D	0.86764	0.6011	L	0.41356	1.27	0.54753	D	0.999982	D	0.67145	0.996	P	0.58520	0.84	D	0.83781	0.0225	10	0.26408	T	0.33	-10.53	9.5882	0.39530	0.0:0.8367:0.0:0.1633	.	39	Q13520	AQP6_HUMAN	L	39	ENSP00000320247:F39L	ENSP00000320247:F39L	F	+	3	2	AQP6	48653340	0.996000	0.38824	1.000000	0.80357	0.659000	0.38960	0.520000	0.22878	1.419000	0.47118	0.561000	0.74099	TTC		0.612	AQP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257528.2	NM_001652, NM_053286	
KRT6B	3854	hgsc.bcm.edu	37	12	52844239	52844239	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:52844239C>T	ENST00000252252.3	-	2	753	c.706G>A	c.(706-708)Gac>Aac	p.D236N		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	236	Coil 1B.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)	p.D236N(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		AGCTCCGAGTCCAGACGACCC	0.552																																					p.D236N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G706A	12						.						203.0	178.0	186.0					12																	52844239		2203	4300	6503	51130506	SO:0001583	missense	3854	exon2			BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.706G>A	12.37:g.52844239C>T	ENSP00000252252:p.Asp236Asn	Somatic		Capture	SOLID	Phase_I	51130506	NM_005555	P48669	Missense_Mutation	SNP	ENST00000252252.3	37	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.388448	0.42308	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.89196	-2.48	2.84	0.816	0.18768	Filament (1);	0.095312	0.45361	N	0.000372	D	0.86351	0.5912	M	0.66506	2.035	0.34396	D	0.694691	P	0.35982	0.531	B	0.39531	0.302	D	0.85678	0.1299	10	0.62326	D	0.03	.	8.1567	0.31173	0.0:0.7463:0.1589:0.0949	.	236	P04259	K2C6B_HUMAN	N	236	ENSP00000252252:D236N	ENSP00000252252:D236N	D	-	1	0	KRT6B	51130506	0.984000	0.35163	0.446000	0.26920	0.036000	0.12997	2.470000	0.45119	0.208000	0.20626	0.298000	0.19748	GAC		0.552	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555	
ESPL1	9700	hgsc.bcm.edu	37	12	53668786	53668786	+	Silent	SNP	A	A	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:53668786A>G	ENST00000257934.4	+	7	1783	c.1692A>G	c.(1690-1692)ctA>ctG	p.L564L	ESPL1_ENST00000552462.1_Silent_p.L564L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	564					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.L564L(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						ACAAGGAGCTACAGCTAAAGT	0.572																																					p.L564L	Colon(53;1069 1201 2587 5382)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1692G	12						.						49.0	50.0	49.0					12																	53668786		2203	4300	6503	51955053	SO:0001819	synonymous_variant	9700	exon7			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.1692A>G	12.37:g.53668786A>G		Somatic		Capture	SOLID	Phase_I	51955053	NM_012291		Silent	SNP	ENST00000257934.4	37	CCDS8852.1																																																																																				0.572	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291	
HOXC9	3225	hgsc.bcm.edu	37	12	54396402	54396402	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:54396402C>T	ENST00000303450.4	+	2	797	c.727C>T	c.(727-729)Cga>Tga	p.R243*	RP11-834C11.12_ENST00000513209.1_Intron|HOXC-AS1_ENST00000505700.1_RNA|HOXC9_ENST00000508190.1_Nonsense_Mutation_p.R243*|HOXC9_ENST00000504557.1_3'UTR|HOXC-AS1_ENST00000512427.1_RNA	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	243					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R243*(1)		large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						GTTTCAGAATCGAAGGATGAA	0.478																																					p.R243X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C727T	12						.						52.0	57.0	55.0					12																	54396402		2203	4300	6503	52682669	SO:0001587	stop_gained	3225	exon2				CCDS8869.1	12q13.13	2011-06-20	2005-12-22			ENSG00000180806		"""Homeoboxes / ANTP class : HOXL subclass"""	5130	protein-coding gene	gene with protein product		142971	"""homeo box C9"""	HOX3, HOX3B		1973146	Standard	NM_006897		Approved		uc001seq.3	P31274		ENST00000303450.4:c.727C>T	12.37:g.54396402C>T	ENSP00000302836:p.Arg243*	Somatic		Capture	SOLID	Phase_I	52682669	NM_006897	B2RCN7|Q9H1I0	Nonsense_Mutation	SNP	ENST00000303450.4	37	CCDS8869.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974159	0.74246	.	.	ENSG00000180806	ENST00000508190;ENST00000303450	.	.	.	4.13	4.13	0.48395	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.6306	0.39776	0.3274:0.6726:0.0:0.0	.	.	.	.	X	243	.	ENSP00000302836:R243X	R	+	1	2	HOXC9	52682669	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.665000	0.61547	2.326000	0.78906	0.561000	0.74099	CGA		0.478	HOXC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358958.1		
NCKAP1L	3071	hgsc.bcm.edu	37	12	54903672	54903672	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:54903672T>C	ENST00000293373.6	+	7	717	c.638T>C	c.(637-639)gTc>gCc	p.V213A	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.V163A|NCKAP1L_ENST00000552211.1_3'UTR	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	213					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.V213A(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TTCCTCTTTGTCCGAAGAAAC	0.507																																					p.V163A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T488C	12						.						158.0	163.0	161.0					12																	54903672		2203	4300	6503	53189939	SO:0001583	missense	3071	exon7			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.638T>C	12.37:g.54903672T>C	ENSP00000293373:p.Val213Ala	Somatic		Capture	SOLID	Phase_I	53189939	NM_001184976	B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	T	5.240	0.229685	0.09916	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.29142	1.58;1.58	5.83	1.84	0.25277	.	0.572825	0.18493	N	0.139600	T	0.11067	0.0270	N	0.08118	0	0.26785	N	0.969516	B	0.02656	0.0	B	0.04013	0.001	T	0.32955	-0.9887	10	0.06625	T	0.88	-10.9214	5.1196	0.14852	0.0:0.2549:0.1496:0.5955	.	213	P55160	NCKPL_HUMAN	A	213;163	ENSP00000293373:V213A;ENSP00000445596:V163A	ENSP00000293373:V213A	V	+	2	0	NCKAP1L	53189939	0.407000	0.25352	0.999000	0.59377	0.992000	0.81027	1.507000	0.35758	0.479000	0.27511	0.460000	0.39030	GTC		0.507	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337	
MIP	4284	hgsc.bcm.edu	37	12	56847473	56847473	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:56847473G>A	ENST00000257979.4	-	2	455	c.427C>T	c.(427-429)Ctc>Ttc	p.L143F	MIP_ENST00000555551.1_5'UTR	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	143					canalicular bile acid transport (GO:0015722)|lens development in camera-type eye (GO:0002088)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)|water transport (GO:0006833)	gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|structural constituent of eye lens (GO:0005212)|transporter activity (GO:0005215)|water channel activity (GO:0015250)	p.L143F(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						AAGATGCAGAGCACGAACTGG	0.607																																					p.L143F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C427T	12						.						70.0	52.0	58.0					12																	56847473		2203	4300	6503	55133740	SO:0001583	missense	4284	exon2				CCDS8919.1	12q13	2012-10-02				ENSG00000135517		"""Ion channels / Aquaporins"""	7103	protein-coding gene	gene with protein product	aquaporin 0	154050				1840563, 7536742	Standard	NM_012064		Approved	MP26, LIM1, AQP0	uc001slh.3	P30301		ENST00000257979.4:c.427C>T	12.37:g.56847473G>A	ENSP00000257979:p.Leu143Phe	Somatic		Capture	SOLID	Phase_I	55133740	NM_012064	Q17R41	Missense_Mutation	SNP	ENST00000257979.4	37	CCDS8919.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051897	0.75960	.	.	ENSG00000135517	ENST00000257979	D	0.93811	-3.29	4.86	4.86	0.63082	Aquaporin-like (2);	0.131978	0.51477	D	0.000094	D	0.93145	0.7817	N	0.20328	0.56	0.45607	D	0.998546	D	0.65815	0.995	D	0.68483	0.958	D	0.92363	0.5899	10	0.30078	T	0.28	-13.927	17.145	0.86764	0.0:0.0:1.0:0.0	.	143	P30301	MIP_HUMAN	F	143	ENSP00000257979:L143F	ENSP00000257979:L143F	L	-	1	0	MIP	55133740	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	1.453000	0.35167	2.399000	0.81585	0.655000	0.94253	CTC		0.607	MIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409620.1	NM_012064	
NAB2	4665	hgsc.bcm.edu	37	12	57485048	57485048	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:57485048C>T	ENST00000300131.3	+	2	602	c.224C>T	c.(223-225)gCg>gTg	p.A75V	NAB2_ENST00000357680.4_Missense_Mutation_p.A75V|NAB2_ENST00000342556.6_Missense_Mutation_p.A75V|NAB2_ENST00000554718.1_3'UTR	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	75	NCD1.				cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.A75V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTGTGTGAGGCGGGTGAGGAG	0.627																																					p.A75V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C224T	12						.						87.0	97.0	94.0					12																	57485048		2203	4300	6503	55771315	SO:0001583	missense	4665	exon2			BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.224C>T	12.37:g.57485048C>T	ENSP00000300131:p.Ala75Val	Somatic		Capture	SOLID	Phase_I	55771315	NM_005967	B2RAK3|O76006|Q14797	Missense_Mutation	SNP	ENST00000300131.3	37	CCDS8930.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965555	0.92855	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	D;D;D	0.81739	-1.53;-1.53;-1.53	4.43	4.43	0.53597	Nab, N-terminal (2);	0.000000	0.64402	D	0.000001	D	0.89076	0.6612	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90434	0.4426	10	0.72032	D	0.01	-10.4165	14.6094	0.68504	0.0:1.0:0.0:0.0	.	75	Q15742	NAB2_HUMAN	V	75	ENSP00000300131:A75V;ENSP00000341491:A75V;ENSP00000350309:A75V	ENSP00000300131:A75V	A	+	2	0	NAB2	55771315	1.000000	0.71417	0.963000	0.40424	0.984000	0.73092	5.724000	0.68500	2.295000	0.77249	0.561000	0.74099	GCG		0.627	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967	
GLI1	2735	hgsc.bcm.edu	37	12	57860048	57860048	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:57860048G>A	ENST00000228682.2	+	8	879	c.788G>A	c.(787-789)gGg>gAg	p.G263E	GLI1_ENST00000543426.1_Missense_Mutation_p.G135E|GLI1_ENST00000546141.1_Missense_Mutation_p.G222E	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	263					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)	p.G263E(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CACATCCACGGGGAGCGGAAG	0.597																																					p.G263E	Pancreas(157;841 1936 10503 41495 50368)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G788A	12						.						166.0	162.0	163.0					12																	57860048		2203	4300	6503	56146315	SO:0001583	missense	2735	exon8				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.788G>A	12.37:g.57860048G>A	ENSP00000228682:p.Gly263Glu	Somatic		Capture	SOLID	Phase_I	56146315	NM_005269	D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062619	0.76187	.	.	ENSG00000111087	ENST00000532291;ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8	4.03	4.03	0.46877	Zinc finger, C2H2 (1);	0.000000	0.47852	D	0.000203	D	0.94525	0.8237	M	0.86097	2.795	0.80722	D	1	D	0.59357	0.985	P	0.58130	0.833	D	0.95516	0.8590	10	0.87932	D	0	.	15.4831	0.75542	0.0:0.0:1.0:0.0	.	263	P08151	GLI1_HUMAN	E	135;135;263;222;222;135	ENSP00000436671:G135E;ENSP00000437607:G135E;ENSP00000228682:G263E;ENSP00000441006:G222E;ENSP00000434408:G222E	ENSP00000228682:G263E	G	+	2	0	GLI1	56146315	1.000000	0.71417	0.969000	0.41365	0.337000	0.28794	9.561000	0.98142	2.247000	0.74100	0.591000	0.81541	GGG		0.597	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269	
SLC16A7	9194	hgsc.bcm.edu	37	12	60173362	60173362	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:60173362G>T	ENST00000261187.4	+	5	1503	c.1339G>T	c.(1339-1341)Gaa>Taa	p.E447*	SLC16A7_ENST00000547379.1_Nonsense_Mutation_p.E447*|SLC16A7_ENST00000552432.1_Nonsense_Mutation_p.E447*|SLC16A7_ENST00000543448.1_Nonsense_Mutation_p.E348*|SLC16A7_ENST00000552024.1_Nonsense_Mutation_p.E447*	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	447					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.E447*(2)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	GAAGACCAGAGAATCTGAACC	0.413																																					p.E447X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1339T	12						.						96.0	82.0	87.0					12																	60173362		2203	4300	6503	58459629	SO:0001587	stop_gained	9194	exon5			AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.1339G>T	12.37:g.60173362G>T	ENSP00000261187:p.Glu447*	Somatic		Capture	SOLID	Phase_I	58459629	NM_004731	Q8NEM3|Q9UPB3	Nonsense_Mutation	SNP	ENST00000261187.4	37	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	G	39	7.674662	0.98425	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000261187;ENST00000543448	.	.	.	4.59	4.59	0.56863	.	1.098970	0.06692	N	0.769955	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7416	0.88408	0.0:0.0:1.0:0.0	.	.	.	.	X	447;447;447;447;348	.	.	E	+	1	0	SLC16A7	58459629	1.000000	0.71417	0.284000	0.24805	0.084000	0.17831	5.920000	0.70017	2.249000	0.74217	0.467000	0.42956	GAA		0.413	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731	
NUP107	57122	hgsc.bcm.edu	37	12	69083373	69083373	+	Missense_Mutation	SNP	G	G	A	rs139991199		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:69083373G>A	ENST00000229179.4	+	3	493	c.161G>A	c.(160-162)cGa>cAa	p.R54Q	RP11-637A17.2_ENST00000500695.2_lincRNA|NUP107_ENST00000539906.1_Missense_Mutation_p.E16K|NUP107_ENST00000378905.2_5'UTR	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	54					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)	p.R54Q(1)	NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GTTATCCCTCGAACTCCTAGC	0.318													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18430	0.0		0.0	False		,,,				2504	0.0				p.R54Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G161A	12						.	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	111.0	109.0	110.0		161	5.4	1.0	12	dbSNP_134	110	13,8587	9.8+/-36.6	0,13,4287	yes	missense	NUP107	NM_020401.2	43	0,14,6489	AA,AG,GG		0.1512,0.0227,0.1076	benign	54/926	69083373	14,12992	2203	4300	6503	67369640	SO:0001583	missense	57122	exon3			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.161G>A	12.37:g.69083373G>A	ENSP00000229179:p.Arg54Gln	Somatic		Capture	SOLID	Phase_I	67369640	NM_020401	B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	CCDS8985.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	G|G	17.76|17.76	3.468392|3.468392	0.63625|0.63625	2.27E-4|2.27E-4	0.001512|0.001512	ENSG00000111581|ENSG00000111581	ENST00000539906|ENST00000229179	.|.	.|.	.|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.425083	.|0.24755	.|N	.|0.035877	T|T	0.51753|0.51753	0.1693|0.1693	L|L	0.41824|0.41824	1.3|1.3	0.80722|0.80722	D|D	1|1	B|B	0.25105|0.26400	0.118|0.148	B|B	0.20767|0.13407	0.031|0.009	T|T	0.44817|0.44817	-0.9303|-0.9303	7|8	.|.	.|.	.|.	-12.1118|-12.1118	15.1663|15.1663	0.72828|0.72828	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	16|54	B4DZ67|P57740	.|NU107_HUMAN	K|Q	16|54	.|.	.|.	E|R	+|+	1|2	0|0	NUP107|NUP107	67369640|67369640	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.920000|0.920000	0.55202|0.55202	2.629000|2.629000	0.46485|0.46485	2.722000|2.722000	0.93159|0.93159	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.318	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401	
LIN7A	8825	hgsc.bcm.edu	37	12	81242046	81242046	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:81242046G>A	ENST00000552864.1	-	3	459	c.257C>T	c.(256-258)gCg>gTg	p.A86V		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	86					exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	L27 domain binding (GO:0097016)	p.A86V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						TGTTGCCCTCGCACGGAATTC	0.378																																					p.A86V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C257T	12						.						86.0	81.0	83.0					12																	81242046		2203	4300	6503	79766177	SO:0001583	missense	8825	exon3			AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052			17787	protein-coding gene	gene with protein product	"""mammalian LIN-7 1"""	603380				10341223, 17237226	Standard	NM_004664		Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.257C>T	12.37:g.81242046G>A	ENSP00000447488:p.Ala86Val	Somatic		Capture	SOLID	Phase_I	79766177	NM_004664	A4FTY3|Q147W1|Q6LES3|Q7LDS4	Missense_Mutation	SNP	ENST00000552864.1	37	CCDS9021.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.51|18.51	3.640424|3.640424	0.67244|0.67244	.|.	.|.	ENSG00000111052|ENSG00000111052	ENST00000552864;ENST00000549417|ENST00000552093	T;T|.	0.29397|.	2.04;1.57|.	5.7|5.7	5.7|5.7	0.88788|0.88788	PDZ/DHR/GLGF (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.72550|.	0.3474|.	L|L	0.56199|0.56199	1.76|1.76	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	P|.	0.60609|.	0.877|.	T|.	0.68288|.	-0.5448|.	10|.	0.87932|.	D|.	0|.	-11.949|-11.949	19.8282|19.8282	0.96625|0.96625	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	86|.	O14910|.	LIN7A_HUMAN|.	V|X	86;80|52	ENSP00000447488:A86V;ENSP00000448975:A80V|.	ENSP00000261203:A86V|.	A|R	-|-	2|1	0|2	LIN7A|LIN7A	79766177|79766177	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	9.476000|9.476000	0.97823|0.97823	2.694000|2.694000	0.91930|0.91930	0.650000|0.650000	0.86243|0.86243	GCG|CGA		0.378	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407760.1		
SLC6A15	55117	hgsc.bcm.edu	37	12	85255661	85255661	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:85255661C>A	ENST00000266682.5	-	12	2484	c.1943G>T	c.(1942-1944)aGt>aTt	p.S648I	SLC6A15_ENST00000552192.1_Missense_Mutation_p.S541I|SLC6A15_ENST00000309283.7_Intron	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	648					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)	p.S648I(1)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						ATTACCAGAACTATCATCTAT	0.438																																					p.S541I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1622T	12						.						125.0	129.0	127.0					12																	85255661		2203	4300	6503	83779792	SO:0001583	missense	55117	exon11			AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.1943G>T	12.37:g.85255661C>A	ENSP00000266682:p.Ser648Ile	Somatic		Capture	SOLID	Phase_I	83779792	NM_001146335	A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.445132	0.25987	.	.	ENSG00000072041	ENST00000266682;ENST00000552192;ENST00000548267	T;T	0.75367	-0.73;-0.93	5.99	4.09	0.47781	.	0.256120	0.50627	D	0.000113	T	0.68897	0.3051	L	0.36672	1.1	0.80722	D	1	P	0.40875	0.731	B	0.43386	0.418	T	0.63202	-0.6690	10	0.21014	T	0.42	.	16.4753	0.84130	0.0:0.7524:0.2476:0.0	.	648	Q9H2J7	S6A15_HUMAN	I	648;541;126	ENSP00000266682:S648I;ENSP00000450145:S541I	ENSP00000266682:S648I	S	-	2	0	SLC6A15	83779792	0.947000	0.32204	0.532000	0.27989	0.486000	0.33341	0.657000	0.24963	0.788000	0.33755	0.655000	0.94253	AGT		0.438	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767	
LRRIQ1	84125	hgsc.bcm.edu	37	12	85450660	85450660	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:85450660G>A	ENST00000393217.2	+	8	2150	c.2089G>A	c.(2089-2091)Gta>Ata	p.V697I		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	697								p.V697I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAGCTCCATGGTATCTAAAGA	0.368																																					p.V697I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2089A	12						.						94.0	99.0	97.0					12																	85450660		2202	4300	6502	83974791	SO:0001583	missense	84125	exon8			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2089G>A	12.37:g.85450660G>A	ENSP00000376910:p.Val697Ile	Somatic		Capture	SOLID	Phase_I	83974791	NM_001079910	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886814	0.33348	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.53857	0.6	5.4	0.327	0.15913	.	0.577216	0.14082	N	0.342656	T	0.32071	0.0817	N	0.22421	0.69	0.09310	N	1	B;B	0.15473	0.013;0.006	B;B	0.10450	0.005;0.003	T	0.14896	-1.0456	10	0.33940	T	0.23	.	5.1102	0.14806	0.2921:0.0:0.5729:0.135	.	697;672	Q96JM4;C9JI57	LRIQ1_HUMAN;.	I	697;672;697	ENSP00000376910:V697I	ENSP00000256007:V697I	V	+	1	0	LRRIQ1	83974791	0.000000	0.05858	0.014000	0.15608	0.438000	0.31896	0.211000	0.17474	0.250000	0.21479	0.543000	0.68304	GTA		0.368	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
LRRIQ1	84125	hgsc.bcm.edu	37	12	85459143	85459143	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:85459143C>A	ENST00000393217.2	+	9	2556	c.2495C>A	c.(2494-2496)tCt>tAt	p.S832Y		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	832								p.S832Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GGATTAACTTCTTTGCACAGC	0.368																																					p.S832Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2495A	12						.						124.0	120.0	121.0					12																	85459143		2203	4300	6503	83983274	SO:0001583	missense	84125	exon9			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2495C>A	12.37:g.85459143C>A	ENSP00000376910:p.Ser832Tyr	Somatic		Capture	SOLID	Phase_I	83983274	NM_001079910	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824407	0.71143	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.11385	2.78	5.6	4.68	0.58851	.	0.378754	0.23165	N	0.051184	T	0.36303	0.0962	M	0.83312	2.635	0.35371	D	0.789053	D;D	0.89917	1.0;1.0	D;D	0.77004	0.956;0.989	T	0.55604	-0.8115	10	0.72032	D	0.01	.	14.4964	0.67691	0.0:0.8533:0.1467:0.0	.	832;807	Q96JM4;C9JI57	LRIQ1_HUMAN;.	Y	832;807;832	ENSP00000376910:S832Y	ENSP00000256007:S832Y	S	+	2	0	LRRIQ1	83983274	0.852000	0.29690	0.972000	0.41901	0.907000	0.53573	2.950000	0.49081	1.301000	0.44836	0.585000	0.79938	TCT		0.368	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
MGAT4C	25834	hgsc.bcm.edu	37	12	86383204	86383204	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:86383204A>C	ENST00000604798.1	-	6	1325	c.121T>G	c.(121-123)Ttg>Gtg	p.L41V	MGAT4C_ENST00000552435.2_Missense_Mutation_p.L41V|MGAT4C_ENST00000548651.1_Missense_Mutation_p.L41V|MGAT4C_ENST00000552808.2_Missense_Mutation_p.L41V|MGAT4C_ENST00000549405.2_Missense_Mutation_p.L41V|MGAT4C_ENST00000393205.2_Missense_Mutation_p.L70V|MGAT4C_ENST00000332156.1_Missense_Mutation_p.L41V			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	41					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.L41V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TCAATGTACAAGTTCATAAAA	0.338																																					p.L41V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T121G	12						.						87.0	77.0	80.0					12																	86383204		2203	4298	6501	84907335	SO:0001583	missense	25834	exon5				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.121T>G	12.37:g.86383204A>C	ENSP00000474896:p.Leu41Val	Somatic		Capture	SOLID	Phase_I	84907335	NM_013244	B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.824118	0.71143	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225;ENST00000552435	T;T;T;T;T;T	0.44083	1.47;1.43;1.47;1.47;1.47;0.93	5.83	4.67	0.58626	.	0.080855	0.47852	N	0.000205	T	0.35335	0.0928	L	0.36672	1.1	0.41473	D	0.988112	B;D	0.56968	0.007;0.978	B;P	0.47981	0.007;0.563	T	0.09015	-1.0694	10	0.24483	T	0.36	-14.8523	7.8121	0.29237	0.791:0.1398:0.0692:0.0	.	70;41	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	V	41;70;41;41;41;41;41;41	ENSP00000331664:L41V;ENSP00000376900:L70V;ENSP00000449022:L41V;ENSP00000446647:L41V;ENSP00000447253:L41V;ENSP00000449172:L41V	ENSP00000331664:L41V	L	-	1	2	MGAT4C	84907335	1.000000	0.71417	0.995000	0.50966	0.968000	0.65278	4.429000	0.59901	0.993000	0.38866	0.533000	0.62120	TTG		0.338	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244	
KERA	11081	hgsc.bcm.edu	37	12	91449844	91449844	+	Missense_Mutation	SNP	C	C	A	rs567010026	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:91449844C>A	ENST00000266719.3	-	2	462	c.215G>T	c.(214-216)aGa>aTa	p.R72I		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	72					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.R72I(1)		breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						ATACCAAATTCTTGAAGGAAT	0.383													C|||	3	0.000599042	0.0	0.0	5008	,	,		19677	0.0		0.0	False		,,,				2504	0.0031				p.R72I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G215T	12						.						96.0	90.0	92.0					12																	91449844		2203	4297	6500	89973975	SO:0001583	missense	11081	exon2			AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.215G>T	12.37:g.91449844C>A	ENSP00000266719:p.Arg72Ile	Somatic		Capture	SOLID	Phase_I	89973975	NM_007035		Missense_Mutation	SNP	ENST00000266719.3	37	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988916	0.74589	.	.	ENSG00000139330	ENST00000266719	T	0.19394	2.15	5.84	5.84	0.93424	Leucine-rich repeat-containing N-terminal (1);	0.203715	0.52532	D	0.000066	T	0.54711	0.1875	M	0.88377	2.95	0.58432	D	0.999999	D	0.69078	0.997	D	0.76575	0.988	T	0.52961	-0.8505	10	0.29301	T	0.29	-17.7029	20.2033	0.98269	0.0:1.0:0.0:0.0	.	72	O60938	KERA_HUMAN	I	72	ENSP00000266719:R72I	ENSP00000266719:R72I	R	-	2	0	KERA	89973975	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.520000	0.60524	2.785000	0.95823	0.650000	0.86243	AGA		0.383	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035	
TMCC3	57458	hgsc.bcm.edu	37	12	94975468	94975468	+	Missense_Mutation	SNP	C	C	T	rs377150992		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:94975468C>T	ENST00000261226.4	-	2	1056	c.925G>A	c.(925-927)Gag>Aag	p.E309K	TMCC3_ENST00000551457.1_Missense_Mutation_p.E278K	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	309						integral component of membrane (GO:0016021)		p.E309K(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TTCAGTGCCTCGATGTCCTCA	0.498																																					p.E309K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G925A	12						.	C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	76.0	75.0	75.0		925	5.8	1.0	12		75	0,8600		0,0,4300	no	missense	TMCC3	NM_020698.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	309/478	94975468	1,13005	2203	4300	6503	93499599	SO:0001583	missense	57458	exon2			AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.925G>A	12.37:g.94975468C>T	ENSP00000261226:p.Glu309Lys	Somatic		Capture	SOLID	Phase_I	93499599	NM_020698	Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	37	CCDS31877.1	.	.	.	.	.	.	.	.	.	.	C	35	5.418551	0.96092	2.27E-4	0.0	ENSG00000057704	ENST00000261226;ENST00000551457	T;T	0.51574	0.7;0.7	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.72120	0.3421	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	T	0.74000	-0.3805	10	0.66056	D	0.02	-50.9691	20.0852	0.97797	0.0:1.0:0.0:0.0	.	309	Q9ULS5	TMCC3_HUMAN	K	309;278	ENSP00000261226:E309K;ENSP00000449888:E278K	ENSP00000261226:E309K	E	-	1	0	TMCC3	93499599	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.087000	0.71362	2.756000	0.94617	0.561000	0.74099	GAG		0.498	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698	
POLE	5426	hgsc.bcm.edu	37	12	133253184	133253184	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr12:133253184G>T	ENST00000320574.5	-	9	900	c.857C>A	c.(856-858)cCt>cAt	p.P286H	POLE_ENST00000535270.1_Missense_Mutation_p.P259H	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	286			P -> H (found in a colorectal sample; somatic mutation). {ECO:0000269|PubMed:23263490}.		base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.P286H(1)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CTCAGCATCAGGAAACTTGAG	0.493								DNA polymerases (catalytic subunits)																													p.P286H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C857A	12						.						115.0	99.0	104.0					12																	133253184		2203	4300	6503	131763257	SO:0001583	missense	5426	exon9				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.857C>A	12.37:g.133253184G>T	ENSP00000322570:p.Pro286His	Somatic		Capture	SOLID	Phase_I	131763257	NM_006231	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085755	0.94100	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.49	5.49	0.81192	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.77598	0.4154	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83192	-0.0083	10	0.87932	D	0	.	19.3785	0.94521	0.0:0.0:1.0:0.0	.	259;286	F5H1D6;Q07864	.;DPOE1_HUMAN	H	286;297;259;66;221	ENSP00000322570:P286H;ENSP00000406383:P297H;ENSP00000445753:P259H;ENSP00000442519:P66H	ENSP00000322570:P286H	P	-	2	0	POLE	131763257	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.762000	0.98944	2.566000	0.86566	0.561000	0.74099	CCT		0.493	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231	
CAPN3	825	hgsc.bcm.edu	37	15	42703177	42703177	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr15:42703177G>A	ENST00000397163.3	+	22	2578	c.2359G>A	c.(2359-2361)Gtt>Att	p.V787I	CAPN3_ENST00000349748.3_Missense_Mutation_p.V695I|CAPN3_ENST00000569136.1_Missense_Mutation_p.V122I|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000357568.3_Missense_Mutation_p.V781I|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000337571.4_Missense_Mutation_p.V122I|CAPN3_ENST00000356316.3_Missense_Mutation_p.V694I|CAPN3_ENST00000397200.4_Missense_Mutation_p.V275I|CAPN3_ENST00000318023.7_Missense_Mutation_p.V781I|CAPN3_ENST00000561817.1_Missense_Mutation_p.V122I|CAPN3_ENST00000397204.4_Missense_Mutation_p.V122I	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	787	Domain IV.|EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.V781I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CTGCTGCTTCGTTAGGCTGGA	0.517																																					p.V694I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2080A	15						.						187.0	150.0	162.0					15																	42703177		2203	4299	6502	40490469	SO:0001583	missense	825	exon25			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.2359G>A	15.37:g.42703177G>A	ENSP00000380349:p.Val787Ile	Somatic		Capture	SOLID	Phase_I	40490469	NM_212465	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512130	0.44660	.	.	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200;ENST00000337571;ENST00000397204	D;D;D;D;D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51;-3.51;-3.51;-3.51;-3.51	5.4	2.35	0.29111	EF-hand-like domain (1);	0.000000	0.64402	U	0.000001	D	0.89491	0.6730	L	0.35723	1.085	0.54753	D	0.999985	B;B;B;B;B;B;B	0.25719	0.132;0.132;0.055;0.008;0.068;0.132;0.03	B;B;B;B;B;B;B	0.30179	0.047;0.112;0.035;0.044;0.063;0.07;0.047	T	0.81302	-0.0994	10	0.27785	T	0.31	.	8.4642	0.32947	0.1468:0.1248:0.7284:0.0	.	652;700;122;695;781;787;694	C6EVS4;C6EVS3;A4FTZ9;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;.;CAN3_HUMAN;.	I	694;275;787;781;695;781;275;122;122	ENSP00000348667:V694I;ENSP00000380349:V787I;ENSP00000350181:V781I;ENSP00000183936:V695I;ENSP00000326281:V781I;ENSP00000380384:V275I;ENSP00000336840:V122I;ENSP00000380387:V122I	ENSP00000326281:V781I	V	+	1	0	CAPN3	40490469	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	4.070000	0.57548	0.345000	0.23873	-0.345000	0.07892	GTT		0.517	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1		
UBR1	197131	hgsc.bcm.edu	37	15	43317090	43317090	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr15:43317090C>T	ENST00000290650.4	-	25	2754	c.2676G>A	c.(2674-2676)agG>agA	p.R892R	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	892					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R892R(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CAAATACGGTCCTGAGAATGT	0.443																																					p.R892R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2676A	15						.						205.0	189.0	194.0					15																	43317090		2203	4299	6502	41104382	SO:0001819	synonymous_variant	197131	exon25				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.2676G>A	15.37:g.43317090C>T		Somatic		Capture	SOLID	Phase_I	41104382	NM_174916	O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Silent	SNP	ENST00000290650.4	37	CCDS10091.1																																																																																				0.443	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916	
ATP8B4	79895	hgsc.bcm.edu	37	15	50339639	50339639	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr15:50339639T>G	ENST00000284509.6	-	4	251	c.110A>C	c.(109-111)aAa>aCa	p.K37T	ATP8B4_ENST00000559829.1_Missense_Mutation_p.K37T|ATP8B4_ENST00000558959.1_5'Flank	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	37						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.K37T(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AATATTATATTTCGATGTGTG	0.353																																					p.K37T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A110C	15						.						100.0	103.0	102.0					15																	50339639		2196	4295	6491	48126931	SO:0001583	missense	79895	exon4			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.110A>C	15.37:g.50339639T>G	ENSP00000284509:p.Lys37Thr	Somatic		Capture	SOLID	Phase_I	48126931	NM_024837	Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.133874	0.77662	.	.	ENSG00000104043	ENST00000284509	D	0.85702	-2.02	5.59	4.42	0.53409	.	0.339048	0.28700	N	0.014424	D	0.94598	0.8259	H	0.98068	4.14	0.51767	D	0.999935	D	0.89917	1.0	D	0.74674	0.984	D	0.94380	0.7604	10	0.87932	D	0	.	9.906	0.41377	0.1528:0.0:0.0:0.8472	.	37	Q8TF62	AT8B4_HUMAN	T	37	ENSP00000284509:K37T	ENSP00000284509:K37T	K	-	2	0	ATP8B4	48126931	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	5.876000	0.69667	0.899000	0.36444	0.482000	0.46254	AAA		0.353	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837	
CYP19A1	1588	hgsc.bcm.edu	37	15	51504623	51504623	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr15:51504623T>C	ENST00000396402.1	-	9	1310	c.1157A>G	c.(1156-1158)tAc>tGc	p.Y386C	CYP19A1_ENST00000396404.4_Missense_Mutation_p.Y386C|CYP19A1_ENST00000559878.1_Missense_Mutation_p.Y386C|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.Y386C	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	386					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.Y386C(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)	TTTCACTGGGTAGCCATCGAT	0.413																																					p.Y386C	Melanoma(142;1016 1807 39614 48966 51721)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1157G	15						.						197.0	179.0	185.0					15																	51504623		2196	4293	6489	49291915	SO:0001583	missense	1588	exon9			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.1157A>G	15.37:g.51504623T>C	ENSP00000379683:p.Tyr386Cys	Somatic		Capture	SOLID	Phase_I	49291915	NM_000103	Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.419823	0.83559	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000396404	T;T;T	0.73469	-0.75;-0.75;-0.75	6.06	6.06	0.98353	.	0.166261	0.56097	D	0.000037	D	0.87732	0.6251	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.89325	0.3643	10	0.72032	D	0.01	-14.0675	16.6093	0.84858	0.0:0.0:0.0:1.0	.	386	P11511	CP19A_HUMAN	C	386	ENSP00000379683:Y386C;ENSP00000260433:Y386C;ENSP00000379685:Y386C	ENSP00000260433:Y386C	Y	-	2	0	CYP19A1	49291915	1.000000	0.71417	0.993000	0.49108	0.854000	0.48673	3.861000	0.56002	2.324000	0.78689	0.533000	0.62120	TAC		0.413	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1		
DMXL2	23312	hgsc.bcm.edu	37	15	51773461	51773461	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr15:51773461A>G	ENST00000251076.5	-	24	6129	c.5842T>C	c.(5842-5844)Tct>Cct	p.S1948P	DMXL2_ENST00000543779.2_Missense_Mutation_p.S1948P|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.S1312P	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1948						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.S1948P(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)		TCAATGCCAGAACTTCCATTG	0.403																																					p.S1948P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5842C	15						.						231.0	220.0	224.0					15																	51773461		2196	4293	6489	49560753	SO:0001583	missense	23312	exon24			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.5842T>C	15.37:g.51773461A>G	ENSP00000251076:p.Ser1948Pro	Somatic		Capture	SOLID	Phase_I	49560753	NM_015263	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	A	4.798	0.148424	0.09134	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.26067	1.89;1.89;1.76	5.65	1.5	0.22942	.	0.586050	0.18555	N	0.137801	T	0.31918	0.0812	L	0.52126	1.63	0.09310	N	1	B;P;B;P	0.49961	0.113;0.497;0.055;0.93	B;B;B;P	0.54460	0.054;0.091;0.012;0.753	T	0.06917	-1.0800	10	0.49607	T	0.09	.	7.3504	0.26686	0.398:0.4132:0.0:0.1888	.	1948;1312;1948;1948	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	P	1948;1948;1312	ENSP00000251076:S1948P;ENSP00000441858:S1948P;ENSP00000400855:S1312P	ENSP00000251076:S1948P	S	-	1	0	DMXL2	49560753	0.002000	0.14202	0.143000	0.22291	0.177000	0.22998	-0.278000	0.08490	0.361000	0.24292	0.528000	0.53228	TCT		0.403	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	
VPS13C	54832	hgsc.bcm.edu	37	15	62174877	62174877	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr15:62174877C>A	ENST00000261517.5	-	69	9615	c.9542G>T	c.(9541-9543)cGa>cTa	p.R3181L	VPS13C_ENST00000249837.3_Missense_Mutation_p.R3138L|VPS13C_ENST00000558919.1_5'Flank|VPS13C_ENST00000395898.3_Missense_Mutation_p.R3138L|VPS13C_ENST00000395896.4_Missense_Mutation_p.R3181L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.R3181L(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TAAAAAGTCTCGTTTAATAGG	0.383																																					p.R3138L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9413T	15						.						99.0	98.0	98.0					15																	62174877		2203	4300	6503	59962169	SO:0001583	missense	54832	exon67			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.9542G>T	15.37:g.62174877C>A	ENSP00000261517:p.Arg3181Leu	Somatic		Capture	SOLID	Phase_I	59962169	NM_017684		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	34	5.304642	0.95601	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.81415	-1.49;-1.49;-1.49	5.35	5.35	0.76521	.	0.130049	0.46442	D	0.000297	D	0.91945	0.7449	M	0.89840	3.065	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93033	0.6450	10	0.72032	D	0.01	.	19.4198	0.94716	0.0:1.0:0.0:0.0	.	3138;3181;3138;3181	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	L	3138;3181;3181;3181	ENSP00000249837:R3138L;ENSP00000261517:R3181L;ENSP00000379233:R3181L	ENSP00000249837:R3138L	R	-	2	0	VPS13C	59962169	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.256000	0.78350	2.665000	0.90641	0.585000	0.79938	CGA		0.383	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	
RAB8B	51762	hgsc.bcm.edu	37	15	63537000	63537000	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr15:63537000T>G	ENST00000321437.4	+	2	326	c.170T>G	c.(169-171)aTt>aGt	p.I57S	RAB8B_ENST00000448330.2_Missense_Mutation_p.I57S	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family	57					adherens junction organization (GO:0034332)|antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|positive regulation of cell projection organization (GO:0031346)|positive regulation of corticotropin secretion (GO:0051461)|protein import into peroxisome membrane (GO:0045046)|small GTPase mediated signal transduction (GO:0007264)	cell tip (GO:0051286)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)	p.I57S(1)		kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						GGAAAGAAAATTAAGCTTCAG	0.299																																					p.I57S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T170G	15						.						78.0	80.0	79.0					15																	63537000		2203	4300	6503	61324053	SO:0001583	missense	51762	exon2			AL833365	CCDS10183.1	15q22	2008-11-18			ENSG00000166128	ENSG00000166128		"""RAB, member RAS oncogene"""	30273	protein-coding gene	gene with protein product		613532				9030196, 18772196	Standard	XM_006720569		Approved		uc002alz.3	Q92930	OTTHUMG00000132862	ENST00000321437.4:c.170T>G	15.37:g.63537000T>G	ENSP00000312734:p.Ile57Ser	Somatic		Capture	SOLID	Phase_I	61324053	NM_016530	Q5JPC4|Q9P293	Missense_Mutation	SNP	ENST00000321437.4	37	CCDS10183.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.019222	0.54576	.	.	ENSG00000166128	ENST00000321437;ENST00000448330	T;T	0.79247	-1.25;-1.25	5.99	5.99	0.97316	Small GTP-binding protein domain (1);	0.046264	0.85682	D	0.000000	D	0.86994	0.6067	M	0.89095	3.005	0.54753	D	0.999989	P;P	0.46987	0.485;0.888	B;P	0.54431	0.303;0.752	D	0.89139	0.3515	10	0.87932	D	0	.	12.8861	0.58045	0.0:0.0:0.0:1.0	.	57;57	F5GY21;Q92930	.;RAB8B_HUMAN	S	57	ENSP00000312734:I57S;ENSP00000405463:I57S	ENSP00000312734:I57S	I	+	2	0	RAB8B	61324053	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.801000	0.69115	2.291000	0.77112	0.533000	0.62120	ATT		0.299	RAB8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256336.1	NM_016530	
MAP2K1	5604	hgsc.bcm.edu	37	15	66727424	66727424	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr15:66727424G>A	ENST00000307102.5	+	2	671	c.140G>A	c.(139-141)cGa>cAa	p.R47Q		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	47					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|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)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)	p.R47Q(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	GAGCAGCAGCGAAAGCGCCTT	0.537																																					p.R47Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G140A	15						.						133.0	126.0	128.0					15																	66727424		2201	4299	6500	64514478	SO:0001583	missense	5604	exon2			L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.140G>A	15.37:g.66727424G>A	ENSP00000302486:p.Arg47Gln	Somatic		Capture	SOLID	Phase_I	64514478	NM_002755		Missense_Mutation	SNP	ENST00000307102.5	37	CCDS10216.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701048	0.68501	.	.	ENSG00000169032	ENST00000307102	D	0.93859	-3.3	5.07	5.07	0.68467	.	0.111999	0.56097	D	0.000024	D	0.90642	0.7065	L	0.54323	1.7	0.80722	D	1	B;B	0.34061	0.174;0.436	B;B	0.27380	0.027;0.079	D	0.89747	0.3937	10	0.37606	T	0.19	-21.9939	17.4732	0.87652	0.0:0.0:1.0:0.0	.	25;47	B4DFY5;Q02750	.;MP2K1_HUMAN	Q	47	ENSP00000302486:R47Q	ENSP00000302486:R47Q	R	+	2	0	MAP2K1	64514478	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.574000	0.60900	2.357000	0.79964	0.467000	0.42956	CGA		0.537	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256906.4		
LCTL	197021	hgsc.bcm.edu	37	15	66853429	66853429	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr15:66853429T>C	ENST00000341509.5	-	6	751	c.620A>G	c.(619-621)gAa>gGa	p.E207G	LCTL_ENST00000537670.1_Missense_Mutation_p.E34G|LCTL_ENST00000563438.1_5'Flank	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	207					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.E207G(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATAGCCTTTTTCTGCCATTGC	0.592																																					p.E207G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A620G	15						.						68.0	68.0	68.0					15																	66853429		2201	4299	6500	64640483	SO:0001583	missense	197021	exon6			AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.620A>G	15.37:g.66853429T>C	ENSP00000343490:p.Glu207Gly	Somatic		Capture	SOLID	Phase_I	64640483	NM_207338	B3KQY0	Missense_Mutation	SNP	ENST00000341509.5	37	CCDS10220.1	.	.	.	.	.	.	.	.	.	.	T	13.99	2.401530	0.42613	.	.	ENSG00000188501	ENST00000537670;ENST00000341509	T;T	0.50813	0.73;1.54	5.26	4.06	0.47325	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.165813	0.50627	D	0.000101	T	0.31827	0.0809	N	0.11892	0.195	0.19575	N	0.999961	P	0.44521	0.837	P	0.46543	0.52	T	0.09552	-1.0669	10	0.22706	T	0.39	-35.7878	9.0267	0.36234	0.278:0.0:0.0:0.722	.	207	Q6UWM7	LCTL_HUMAN	G	34;207	ENSP00000445419:E34G;ENSP00000343490:E207G	ENSP00000343490:E207G	E	-	2	0	LCTL	64640483	0.954000	0.32549	0.192000	0.23308	0.979000	0.70002	2.371000	0.44248	2.125000	0.65367	0.533000	0.62120	GAA		0.592	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338	
CORO2B	10391	hgsc.bcm.edu	37	15	68937508	68937508	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr15:68937508C>T	ENST00000566799.1	+	2	54	c.25C>T	c.(25-27)Cgt>Tgt	p.R9C	CORO2B_ENST00000261861.5_Missense_Mutation_p.R4C|CORO2B_ENST00000543950.1_Missense_Mutation_p.R4C|CORO2B_ENST00000540068.1_Missense_Mutation_p.R4C			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	9					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.R9C(1)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GATGTCCTGGCGTCCGCAATA	0.622																																					p.R4C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C10T	15						.						62.0	55.0	58.0					15																	68937508		2200	4298	6498	66724562	SO:0001583	missense	10391	exon2			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.25C>T	15.37:g.68937508C>T	ENSP00000454783:p.Arg9Cys	Somatic		Capture	SOLID	Phase_I	66724562	NM_001190456	A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	ENST00000566799.1	37	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626505	0.46840	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.60424	0.19;0.19	4.38	4.38	0.52667	.	0.051910	0.85682	D	0.000000	T	0.56514	0.1990	M	0.64997	1.995	0.80722	D	1	B	0.15141	0.012	B	0.08055	0.003	T	0.60203	-0.7309	10	0.72032	D	0.01	-4.2981	15.8812	0.79207	0.0:1.0:0.0:0.0	.	9	Q9UQ03	COR2B_HUMAN	C	9;4;4	ENSP00000446250:R4C;ENSP00000443819:R4C	ENSP00000261861:R9C	R	+	1	0	CORO2B	66724562	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	5.676000	0.68131	2.142000	0.66516	0.563000	0.77884	CGT		0.622	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091	
GLCE	26035	hgsc.bcm.edu	37	15	69548672	69548672	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr15:69548672C>A	ENST00000261858.2	+	3	755	c.527C>A	c.(526-528)tCt>tAt	p.S176Y	GLCE_ENST00000559420.2_Missense_Mutation_p.S112Y	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	176					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)	p.S176Y(1)		NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						GTGTTTATGTCTTTTGAAGGC	0.443																																					p.S176Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C527A	15						.						126.0	125.0	125.0					15																	69548672		2200	4298	6498	67335726	SO:0001583	missense	26035	exon3			AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"""heparan sulfate epimerase"""	612134	"""D-glucuronyl C5-epimerase"", ""UDP-glucuronic acid epimerase"""			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.527C>A	15.37:g.69548672C>A	ENSP00000261858:p.Ser176Tyr	Somatic		Capture	SOLID	Phase_I	67335726	NM_015554	Q6GUQ2	Missense_Mutation	SNP	ENST00000261858.2	37	CCDS32277.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464695	0.26335	.	.	ENSG00000138604	ENST00000261858	T	0.32023	1.47	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.43567	0.1253	L	0.31526	0.94	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	T	0.19095	-1.0316	10	0.38643	T	0.18	-13.4838	17.6591	0.88187	0.0:1.0:0.0:0.0	.	176	O94923	GLCE_HUMAN	Y	176	ENSP00000261858:S176Y	ENSP00000261858:S176Y	S	+	2	0	GLCE	67335726	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.614000	0.82996	2.578000	0.87016	0.655000	0.94253	TCT		0.443	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554	
UACA	55075	hgsc.bcm.edu	37	15	70960694	70960694	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr15:70960694C>A	ENST00000322954.6	-	16	2514	c.2329G>T	c.(2329-2331)Gaa>Taa	p.E777*	UACA_ENST00000539319.1_Nonsense_Mutation_p.E668*|UACA_ENST00000379983.2_Nonsense_Mutation_p.E764*|UACA_ENST00000560441.1_Nonsense_Mutation_p.E762*	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	777					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.E764*(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AACTTCTTTTCTGTATATTTT	0.328																																					p.E764X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2290T	15						.						55.0	55.0	55.0					15																	70960694		2199	4295	6494	68747748	SO:0001587	stop_gained	55075	exon16			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2329G>T	15.37:g.70960694C>A	ENSP00000314556:p.Glu777*	Somatic		Capture	SOLID	Phase_I	68747748	NM_001008224	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Nonsense_Mutation	SNP	ENST00000322954.6	37	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	C	39	7.794105	0.98492	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	.	.	.	5.85	5.85	0.93711	.	0.177458	0.39407	N	0.001370	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-21.1475	15.6322	0.76920	0.0:0.8633:0.1367:0.0	.	.	.	.	X	777;764;668	.	ENSP00000314556:E777X	E	-	1	0	UACA	68747748	0.998000	0.40836	0.946000	0.38457	0.385000	0.30292	4.107000	0.57811	2.768000	0.95171	0.655000	0.94253	GAA		0.328	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2		
UACA	55075	hgsc.bcm.edu	37	15	70961132	70961132	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr15:70961132T>G	ENST00000322954.6	-	16	2076	c.1891A>C	c.(1891-1893)Aaa>Caa	p.K631Q	UACA_ENST00000539319.1_Missense_Mutation_p.K522Q|UACA_ENST00000379983.2_Missense_Mutation_p.K618Q|UACA_ENST00000560441.1_Missense_Mutation_p.K616Q	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	631					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.K618Q(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TTTTCAAATTTTTCAGCTGGA	0.373																																					p.K618Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1852C	15						.						74.0	75.0	75.0					15																	70961132		2198	4297	6495	68748186	SO:0001583	missense	55075	exon16			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.1891A>C	15.37:g.70961132T>G	ENSP00000314556:p.Lys631Gln	Somatic		Capture	SOLID	Phase_I	68748186	NM_001008224	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	T	13.86	2.361970	0.41801	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.37058	1.22;1.23;1.69	5.18	5.18	0.71444	.	0.095412	0.45606	D	0.000359	T	0.34658	0.0905	M	0.72894	2.215	0.46609	D	0.999121	P;P;B;B	0.38473	0.633;0.489;0.188;0.441	B;B;B;B	0.33295	0.161;0.077;0.026;0.119	T	0.17018	-1.0383	10	0.27082	T	0.32	-15.0193	12.0343	0.53417	0.0:0.0:0.2221:0.7779	.	522;631;631;618	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	Q	631;618;522	ENSP00000314556:K631Q;ENSP00000369319:K618Q;ENSP00000438667:K522Q	ENSP00000314556:K631Q	K	-	1	0	UACA	68748186	1.000000	0.71417	0.196000	0.23383	0.832000	0.47134	3.787000	0.55439	1.945000	0.56424	0.402000	0.26972	AAA		0.373	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2		
MYO9A	4649	hgsc.bcm.edu	37	15	72143639	72143639	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr15:72143639C>T	ENST00000356056.5	-	37	7008	c.6536G>A	c.(6535-6537)cGa>cAa	p.R2179Q	MYO9A_ENST00000424560.1_Missense_Mutation_p.R2250Q|MYO9A_ENST00000444904.1_Missense_Mutation_p.R2160Q|MYO9A_ENST00000564571.1_Missense_Mutation_p.R2179Q	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2179	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.|Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.R2179Q(2)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAGATGAGTTCGGGAGAGTTG	0.393																																					p.R2179Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6536A	15						.						131.0	118.0	122.0					15																	72143639		2199	4297	6496	69930693	SO:0001583	missense	4649	exon37			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.6536G>A	15.37:g.72143639C>T	ENSP00000348349:p.Arg2179Gln	Somatic		Capture	SOLID	Phase_I	69930693	NM_006901	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	33	5.289932	0.95546	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	T;T;T	0.18810	2.19;2.19;2.19	5.66	5.66	0.87406	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.	.	.	.	T	0.29749	0.0743	N	0.05487	-0.04	0.58432	D	0.999998	D;D	0.89917	0.995;1.0	P;D	0.83275	0.824;0.996	T	0.35400	-0.9790	9	0.45353	T	0.12	.	19.7455	0.96251	0.0:1.0:0.0:0.0	.	2179;1943	B2RTY4;B2RTY4-5	MYO9A_HUMAN;.	Q	2179;2250;2160	ENSP00000348349:R2179Q;ENSP00000399162:R2250Q;ENSP00000398250:R2160Q	ENSP00000348349:R2179Q	R	-	2	0	MYO9A	69930693	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.004000	0.70709	2.670000	0.90874	0.650000	0.86243	CGA		0.393	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901	
MYO9A	4649	hgsc.bcm.edu	37	15	72338405	72338405	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr15:72338405C>T	ENST00000356056.5	-	2	972	c.500G>A	c.(499-501)cGa>cAa	p.R167Q	MYO9A_ENST00000563542.1_5'UTR|RNU2-65P_ENST00000410162.1_RNA|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000424560.1_Missense_Mutation_p.R167Q|MYO9A_ENST00000444904.1_Missense_Mutation_p.R167Q|MYO9A_ENST00000564571.1_Missense_Mutation_p.R167Q	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	167	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.R167Q(2)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AAAGCGATTTCGTAGGTTTTC	0.333																																					p.R167Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G500A	15						.						66.0	71.0	69.0					15																	72338405		2199	4297	6496	70125459	SO:0001583	missense	4649	exon2			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.500G>A	15.37:g.72338405C>T	ENSP00000348349:p.Arg167Gln	Somatic		Capture	SOLID	Phase_I	70125459	NM_006901	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	c	27.8	4.861996	0.91433	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.87571	-2.27;-2.27;-2.27	5.79	5.79	0.91817	Myosin head, motor domain (2);	.	.	.	.	D	0.88618	0.6485	L	0.31476	0.935	0.80722	D	1	P;P;D	0.56035	0.941;0.941;0.974	B;P;P	0.56865	0.241;0.541;0.808	D	0.88159	0.2856	9	0.46703	T	0.11	.	20.1027	0.97880	0.0:1.0:0.0:0.0	.	167;167;167	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	Q	167	ENSP00000348349:R167Q;ENSP00000399162:R167Q;ENSP00000398250:R167Q	ENSP00000261864:R167Q	R	-	2	0	MYO9A	70125459	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.017000	0.70805	2.745000	0.94114	0.644000	0.83932	CGA		0.333	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901	
SIN3A	25942	hgsc.bcm.edu	37	15	75668179	75668179	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr15:75668179G>A	ENST00000394947.3	-	20	3732	c.3418C>T	c.(3418-3420)Cga>Tga	p.R1140*	SIN3A_ENST00000360439.4_Nonsense_Mutation_p.R1140*|SIN3A_ENST00000394949.4_Nonsense_Mutation_p.R1140*	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.R1140*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TGCTGCTCTCGACCACGTTGA	0.507																																					p.R1140X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3418T	15						.						196.0	174.0	182.0					15																	75668179		2197	4294	6491	73455232	SO:0001587	stop_gained	25942	exon20			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.3418C>T	15.37:g.75668179G>A	ENSP00000378402:p.Arg1140*	Somatic		Capture	SOLID	Phase_I	73455232	NM_001145357		Nonsense_Mutation	SNP	ENST00000394947.3	37	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	G	43	9.848724	0.99279	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	.	.	.	5.21	5.21	0.72293	.	0.124305	0.53938	D	0.000056	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-10.0355	12.7999	0.57580	0.0:0.0:0.8365:0.1635	.	.	.	.	X	1140	.	ENSP00000353622:R1140X	R	-	1	2	SIN3A	73455232	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.417000	0.44653	2.446000	0.82766	0.655000	0.94253	CGA		0.507	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477	
WDR61	80349	hgsc.bcm.edu	37	15	78580639	78580639	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr15:78580639G>A	ENST00000267973.2	-	8	919	c.648C>T	c.(646-648)atC>atT	p.I216I	WDR61_ENST00000558459.1_Silent_p.I123I|WDR61_ENST00000559332.1_5'Flank|WDR61_ENST00000558311.1_Silent_p.I216I			Q9GZS3	WDR61_HUMAN	WD repeat domain 61	216					histone H3-K4 trimethylation (GO:0080182)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)		p.I216I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						ACACATCATAGATCTTGATGT	0.473																																					p.I216I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C648T	15						.						135.0	107.0	117.0					15																	78580639		2196	4293	6489	76367694	SO:0001819	synonymous_variant	80349	exon8				CCDS10300.1	15q25.1	2013-01-09			ENSG00000140395	ENSG00000140395		"""WD repeat domain containing"""	30300	protein-coding gene	gene with protein product		609540				12477932	Standard	NM_025234		Approved	REC14	uc002bdn.3	Q9GZS3	OTTHUMG00000143735	ENST00000267973.2:c.648C>T	15.37:g.78580639G>A		Somatic		Capture	SOLID	Phase_I	76367694	NM_025234	D3DW84|Q6IA22|Q7Z4X4	Silent	SNP	ENST00000267973.2	37	CCDS10300.1																																																																																				0.473	WDR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289803.3	NM_025234	
FAH	2184	hgsc.bcm.edu	37	15	80450498	80450498	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr15:80450498G>A	ENST00000407106.1	+	3	333	c.178G>A	c.(178-180)Gat>Aat	p.D60N	FAH_ENST00000261755.5_Missense_Mutation_p.D60N|FAH_ENST00000561421.1_Missense_Mutation_p.D60N|FAH_ENST00000539156.1_De_novo_Start_OutOfFrame			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	60					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)	p.D60N(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAAACACCAGGATGTCTTCAA	0.512									Tyrosinemia, type 1																												p.D60N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G178A	15						.						249.0	195.0	213.0					15																	80450498		2203	4300	6503	78237553	SO:0001583	missense	2184	exon2	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.178G>A	15.37:g.80450498G>A	ENSP00000385080:p.Asp60Asn	Somatic		Capture	SOLID	Phase_I	78237553	NM_000137	B2R9X1|D3DW95|Q53XA7	Missense_Mutation	SNP	ENST00000407106.1	37	CCDS10314.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743206	0.30865	.	.	ENSG00000103876	ENST00000407106;ENST00000537726;ENST00000261755	D;D	0.88664	-2.41;-2.41	4.45	2.38	0.29361	Fumarylacetoacetase, N-terminal (3);	0.328211	0.30575	N	0.009329	T	0.81069	0.4746	L	0.31804	0.96	0.80722	D	1	B;B	0.20368	0.044;0.001	B;B	0.25987	0.065;0.008	T	0.69877	-0.5026	10	0.27785	T	0.31	-4.0291	9.2413	0.37498	0.0:0.3753:0.4837:0.1411	.	60;60	B7Z4W2;P16930	.;FAAA_HUMAN	N	60	ENSP00000385080:D60N;ENSP00000261755:D60N	ENSP00000261755:D60N	D	+	1	0	FAH	78237553	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	1.158000	0.31737	0.376000	0.24707	0.561000	0.74099	GAT		0.512	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291392.2		
TM6SF1	53346	hgsc.bcm.edu	37	15	83781648	83781648	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr15:83781648C>A	ENST00000322019.9	+	2	466	c.192C>A	c.(190-192)ttC>ttA	p.F64L	TM6SF1_ENST00000379386.4_Missense_Mutation_p.F64L|TM6SF1_ENST00000379390.6_Missense_Mutation_p.F64L|TM6SF1_ENST00000565774.1_Missense_Mutation_p.F64L|TM6SF1_ENST00000564988.1_3'UTR|RP11-382A20.2_ENST00000565513.1_RNA			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	64						integral component of membrane (GO:0016021)		p.F64L(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						ACCCACTGTTCTATGGTACGT	0.473																																					p.F64L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C192A	15						.						113.0	103.0	107.0					15																	83781648		2203	4300	6503	81572652	SO:0001583	missense	53346	exon2			AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.192C>A	15.37:g.83781648C>A	ENSP00000317000:p.Phe64Leu	Somatic		Capture	SOLID	Phase_I	81572652	NM_001144903	A8K7T5|H3BU56|Q4U0U5	Missense_Mutation	SNP	ENST00000322019.9	37	CCDS10323.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423534	0.83559	.	.	ENSG00000136404	ENST00000322019;ENST00000379386;ENST00000379384;ENST00000379390;ENST00000258909	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.6	3.45	0.39498	.	0.000000	0.85682	D	0.000000	T	0.58694	0.2140	M	0.71581	2.175	0.54753	D	0.999984	D;P;D	0.69078	0.997;0.936;0.997	D;P;D	0.70716	0.97;0.725;0.97	T	0.61407	-0.7069	10	0.72032	D	0.01	.	2.2181	0.03965	0.2785:0.4773:0.0:0.2442	.	64;64;64	E9PD04;Q6P4D7;Q9BZW5	.;.;TM6S1_HUMAN	L	64	ENSP00000317000:F64L;ENSP00000368696:F64L;ENSP00000368693:F64L;ENSP00000368700:F64L;ENSP00000258909:F64L	ENSP00000258909:F64L	F	+	3	2	TM6SF1	81572652	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	0.877000	0.28106	1.320000	0.45209	0.561000	0.74099	TTC		0.473	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000304009.1	NM_023003	
ADAMTSL3	57188	hgsc.bcm.edu	37	15	84639297	84639297	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr15:84639297C>T	ENST00000286744.5	+	20	2776	c.2552C>T	c.(2551-2553)gCc>gTc	p.A851V	ADAMTSL3_ENST00000567716.1_3'UTR|ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.A851V	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	851	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A851V(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)			AGGCTGGCAGCCAAAGGTCGG	0.502																																					p.A851V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2552T	15						.						178.0	159.0	166.0					15																	84639297		2203	4300	6503	82430301	SO:0001583	missense	57188	exon20			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.2552C>T	15.37:g.84639297C>T	ENSP00000286744:p.Ala851Val	Somatic		Capture	SOLID	Phase_I	82430301	NM_207517	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.330027	0.60743	.	.	ENSG00000156218	ENST00000286744	T	0.54479	0.57	4.39	3.46	0.39613	.	0.611550	0.13854	N	0.358189	T	0.66954	0.2842	M	0.65975	2.015	0.50632	D	0.99988	B;D	0.56746	0.346;0.977	B;P	0.59703	0.23;0.862	T	0.67772	-0.5584	10	0.56958	D	0.05	.	13.9821	0.64310	0.0:0.8468:0.1532:0.0	.	851;851	P82987-2;P82987	.;ATL3_HUMAN	V	851	ENSP00000286744:A851V	ENSP00000286744:A851V	A	+	2	0	ADAMTSL3	82430301	1.000000	0.71417	0.996000	0.52242	0.653000	0.38743	4.890000	0.63178	1.030000	0.39839	-0.182000	0.12963	GCC		0.502	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517	
RHCG	51458	hgsc.bcm.edu	37	15	90022642	90022642	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr15:90022642C>T	ENST00000268122.4	-	5	816	c.748G>A	c.(748-750)Gcc>Acc	p.A250T	RHCG_ENST00000544600.1_Missense_Mutation_p.A250T	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	250					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.A250T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					GTGTTGATGGCGGCTCGGTGC	0.587																																					p.A250T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G748A	15						.						108.0	73.0	85.0					15																	90022642		2200	4299	6499	87823646	SO:0001583	missense	51458	exon5			AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"""Solute carriers"""	18140	protein-coding gene	gene with protein product		605381	"""chromosome 15 open reading frame 6"", ""Rhesus blood group, C glycoprotein"""	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.748G>A	15.37:g.90022642C>T	ENSP00000268122:p.Ala250Thr	Somatic		Capture	SOLID	Phase_I	87823646	NM_016321	A8K4D4|Q6X3Y4	Missense_Mutation	SNP	ENST00000268122.4	37	CCDS10351.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716927	0.89205	.	.	ENSG00000140519	ENST00000544600;ENST00000268122;ENST00000536247	T;T	0.24538	1.85;1.85	5.41	5.41	0.78517	Ammonium transporter AmtB-like (3);	0.148613	0.64402	D	0.000012	T	0.41926	0.1180	M	0.83223	2.63	0.80722	D	1	P;P	0.41947	0.766;0.766	B;B	0.43386	0.418;0.418	T	0.40739	-0.9547	9	.	.	.	-8.5784	19.6194	0.95649	0.0:1.0:0.0:0.0	.	250;250	A8K4D4;Q9UBD6	.;RHCG_HUMAN	T	250;250;241	ENSP00000438123:A250T;ENSP00000268122:A250T	.	A	-	1	0	RHCG	87823646	1.000000	0.71417	0.681000	0.30009	0.980000	0.70556	7.763000	0.85283	2.711000	0.92665	0.650000	0.86243	GCC		0.587	RHCG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000312855.2	NM_016321	
WDR93	56964	hgsc.bcm.edu	37	15	90245174	90245174	+	Missense_Mutation	SNP	T	T	A	rs4287542	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr15:90245174T>A	ENST00000268130.7	+	2	298	c.197T>A	c.(196-198)cTt>cAt	p.L66H	RP11-300G22.2_ENST00000557964.1_RNA|WDR93_ENST00000558000.1_Missense_Mutation_p.L66H|WDR93_ENST00000560294.1_Missense_Mutation_p.L66H	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	66			L -> H (in dbSNP:rs4287542).		electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CTGGTGAACCTTCTGTTTGAC	0.502													T|||	1963	0.391973	0.5061	0.3617	5008	,	,		20048	0.2063		0.4026	False		,,,				2504	0.4397				p.L66H												.	.	0			c.T197A	15						.	T	HIS/LEU	2141,2259	581.7+/-385.4	529,1083,588	88.0	78.0	82.0		197	0.1	0.0	15	dbSNP_111	82	3848,4750	541.6+/-384.0	846,2156,1297	yes	missense	WDR93	NM_020212.1	99	1375,3239,1885	AA,AT,TT		44.7546,48.6591,46.0763	benign	66/687	90245174	5989,7009	2200	4299	6499	88046178	SO:0001583	missense	56964	exon2				CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"""WD repeat domain containing"""	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.197T>A	15.37:g.90245174T>A	ENSP00000268130:p.Leu66His	Somatic		Capture	SOLID	Phase_I	88046178	NM_020212	Q8N7Y8|Q9NP89	Missense_Mutation	SNP	ENST00000268130.7	37	CCDS32326.1	787	0.36034798534798534	218	0.44308943089430897	141	0.38950276243093923	124	0.21678321678321677	304	0.40105540897097625	T	1.654	-0.513158	0.04200	0.486591	0.447546	ENSG00000140527	ENST00000268130	T	0.22134	1.97	5.59	0.0743	0.14394	.	0.586451	0.15989	N	0.234922	T	0.00012	0.0000	N	0.12746	0.255	0.58432	P	4.000000000004E-6	B;B;B	0.20261	0.01;0.043;0.01	B;B;B	0.18561	0.01;0.022;0.01	T	0.45352	-0.9267	9	0.13470	T	0.59	-1.9233	1.6993	0.02869	0.4348:0.0838:0.1407:0.3407	rs4287542;rs57513749;rs4287542	66;66;66	Q6P2C0-2;B4E3E2;Q6P2C0	.;.;WDR93_HUMAN	H	66	ENSP00000268130:L66H	ENSP00000268130:L66H	L	+	2	0	WDR93	88046178	0.011000	0.17503	0.008000	0.14137	0.289000	0.27227	-0.054000	0.11826	0.039000	0.15632	0.528000	0.53228	CTT		0.502	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212	
ZNF774	342132	hgsc.bcm.edu	37	15	90904331	90904331	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr15:90904331G>A	ENST00000354377.3	+	4	1454	c.1268G>A	c.(1267-1269)cGa>cAa	p.R423Q	ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	423					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.R423Q(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ACCCATCAGCGAATCCACTTA	0.493																																					p.R423Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1268A	15						.						76.0	71.0	72.0					15																	90904331		2199	4298	6497	88705335	SO:0001583	missense	342132	exon4			BC067279	CCDS32330.1	15q26.1	2013-01-08				ENSG00000196391		"""Zinc fingers, C2H2-type"""	33108	protein-coding gene	gene with protein product							Standard	NM_001004309		Approved	MGC75360	uc002bpk.4	Q6NX45		ENST00000354377.3:c.1268G>A	15.37:g.90904331G>A	ENSP00000346348:p.Arg423Gln	Somatic		Capture	SOLID	Phase_I	88705335	NM_001004309	A8K020	Missense_Mutation	SNP	ENST00000354377.3	37	CCDS32330.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199969	0.58126	.	.	ENSG00000196391	ENST00000354377	T	0.24723	1.84	5.31	4.08	0.47627	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.31472	N	0.007586	T	0.41834	0.1176	L	0.51422	1.61	0.42084	D	0.991265	D	0.89917	1.0	D	0.79108	0.992	T	0.25950	-1.0117	10	0.72032	D	0.01	.	9.6798	0.40063	0.1405:0.0:0.8595:0.0	.	423	Q6NX45	ZN774_HUMAN	Q	423	ENSP00000346348:R423Q	ENSP00000346348:R423Q	R	+	2	0	ZNF774	88705335	0.029000	0.19370	0.001000	0.08648	0.576000	0.36127	2.048000	0.41278	0.861000	0.35504	0.655000	0.94253	CGA		0.493	ZNF774-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418048.1	NM_001004309	
IQGAP1	8826	hgsc.bcm.edu	37	15	90934024	90934024	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr15:90934024G>T	ENST00000268182.5	+	2	198	c.74G>T	c.(73-75)aGa>aTa	p.R25I	IQGAP1_ENST00000560738.1_Missense_Mutation_p.R25I|RP11-154B12.3_ENST00000560578.1_RNA	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	25					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)	p.R25I(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GATAATGAAAGACTTACTGCA	0.423																																					p.R25I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G74T	15						.						183.0	168.0	173.0					15																	90934024		2198	4298	6496	88735028	SO:0001583	missense	8826	exon2			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.74G>T	15.37:g.90934024G>T	ENSP00000268182:p.Arg25Ile	Somatic		Capture	SOLID	Phase_I	88735028	NM_003870	A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734128	0.69189	.	.	ENSG00000140575	ENST00000268182	T	0.02552	4.25	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.13927	0.0337	M	0.73217	2.22	0.50813	D	0.999896	D	0.89917	1.0	D	0.77557	0.99	T	0.00134	-1.2009	10	0.72032	D	0.01	-14.7963	15.2382	0.73447	0.0:0.0:1.0:0.0	.	25	P46940	IQGA1_HUMAN	I	25	ENSP00000268182:R25I	ENSP00000268182:R25I	R	+	2	0	IQGAP1	88735028	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.110000	0.94302	2.460000	0.83146	0.462000	0.41574	AGA		0.423	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870	
SV2B	9899	hgsc.bcm.edu	37	15	91769728	91769728	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr15:91769728G>T	ENST00000394232.1	+	2	705	c.235G>T	c.(235-237)Gac>Tac	p.D79Y	SV2B_ENST00000545111.2_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.D79Y|SV2B_ENST00000557291.1_Intron	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	79					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.D79Y(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GGGCCAGACAGACCTGATGGC	0.587																																					p.D79Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G235T	15						.						82.0	74.0	77.0					15																	91769728		2198	4298	6496	89570732	SO:0001583	missense	9899	exon3			AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.235G>T	15.37:g.91769728G>T	ENSP00000377779:p.Asp79Tyr	Somatic		Capture	SOLID	Phase_I	89570732	NM_014848	B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873737	0.72180	.	.	ENSG00000185518	ENST00000394232;ENST00000330276	T;T	0.62788	0.0;0.0	5.56	5.56	0.83823	.	0.320690	0.37348	N	0.002127	T	0.63674	0.2531	L	0.50333	1.59	0.58432	D	0.999997	D	0.54397	0.966	P	0.45753	0.492	T	0.68515	-0.5388	10	0.72032	D	0.01	-31.6418	18.0936	0.89481	0.0:0.0:1.0:0.0	.	79	Q7L1I2	SV2B_HUMAN	Y	79	ENSP00000377779:D79Y;ENSP00000332818:D79Y	ENSP00000332818:D79Y	D	+	1	0	SV2B	89570732	1.000000	0.71417	0.989000	0.46669	0.775000	0.43874	5.051000	0.64257	2.622000	0.88805	0.563000	0.77884	GAC		0.587	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848	
SV2B	9899	hgsc.bcm.edu	37	15	91769833	91769833	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr15:91769833G>A	ENST00000394232.1	+	2	810	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	SV2B_ENST00000545111.2_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.V114I|SV2B_ENST00000557291.1_Intron	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	114					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.V114I(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CCTCTTTTTCGTCTTGGGTTT	0.552																																					p.V114I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G340A	15						.						114.0	92.0	100.0					15																	91769833		2198	4298	6496	89570837	SO:0001583	missense	9899	exon3			AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.340G>A	15.37:g.91769833G>A	ENSP00000377779:p.Val114Ile	Somatic		Capture	SOLID	Phase_I	89570837	NM_014848	B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	G	34	5.379290	0.95945	.	.	ENSG00000185518	ENST00000394232;ENST00000330276	T;T	0.58506	0.33;0.33	5.63	5.63	0.86233	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.64193	0.2576	L	0.38953	1.18	0.80722	D	1	D	0.65815	0.995	P	0.61132	0.884	T	0.56353	-0.7993	10	0.19147	T	0.46	-39.6458	18.2388	0.89960	0.0:0.0:1.0:0.0	.	114	Q7L1I2	SV2B_HUMAN	I	114	ENSP00000377779:V114I;ENSP00000332818:V114I	ENSP00000332818:V114I	V	+	1	0	SV2B	89570837	1.000000	0.71417	0.982000	0.44146	0.944000	0.59088	9.594000	0.98254	2.657000	0.90304	0.563000	0.77884	GTC		0.552	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848	
ST8SIA2	8128	hgsc.bcm.edu	37	15	92981674	92981674	+	Missense_Mutation	SNP	G	G	A	rs532326502		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr15:92981674G>A	ENST00000268164.3	+	4	619	c.382G>A	c.(382-384)Gat>Aat	p.D128N	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.D107N	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	128					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.D128N(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)			TTACATCTTCGATCGAGACAG	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		19817	0.001		0.0	False		,,,				2504	0.0				p.D128N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G382A	15						.						158.0	164.0	162.0					15																	92981674		2198	4298	6496	90782678	SO:0001583	missense	8128	exon4			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.382G>A	15.37:g.92981674G>A	ENSP00000268164:p.Asp128Asn	Somatic		Capture	SOLID	Phase_I	90782678	NM_006011	Q4VAZ0|Q92470|Q92746	Missense_Mutation	SNP	ENST00000268164.3	37	CCDS10372.1	.	.	.	.	.	.	.	.	.	.	G	34	5.320162	0.95682	.	.	ENSG00000140557	ENST00000268164;ENST00000539113;ENST00000555434	T;T;T	0.29917	1.55;1.55;1.55	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	L	0.58925	1.835	0.80722	D	1	D;D	0.71674	0.995;0.998	P;D	0.64877	0.879;0.93	T	0.36601	-0.9741	10	0.32370	T	0.25	-2.0403	19.2257	0.93817	0.0:0.0:1.0:0.0	.	107;128	C6G488;Q92186	.;SIA8B_HUMAN	N	128;107;85	ENSP00000268164:D128N;ENSP00000437382:D107N;ENSP00000450851:D85N	ENSP00000268164:D128N	D	+	1	0	ST8SIA2	90782678	1.000000	0.71417	0.984000	0.44739	0.858000	0.48976	9.182000	0.94881	2.541000	0.85698	0.655000	0.94253	GAT		0.463	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011	
ALDH1A3	220	hgsc.bcm.edu	37	15	101447368	101447368	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr15:101447368G>A	ENST00000329841.5	+	11	1808	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Missense_Mutation_p.E319K	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	426					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)	p.E426K(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	CAAAAGTATCGAAGAAGTGAT	0.428																																					p.E426K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1276A	15						.						136.0	121.0	126.0					15																	101447368		2203	4300	6503	99264891	SO:0001583	missense	220	exon11			U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.1276G>A	15.37:g.101447368G>A	ENSP00000332256:p.Glu426Lys	Somatic		Capture	SOLID	Phase_I	99264891	NM_000693	Q6NT64	Missense_Mutation	SNP	ENST00000329841.5	37	CCDS10389.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806661	0.70682	.	.	ENSG00000184254	ENST00000329841;ENST00000346623	T	0.19250	2.16	4.27	4.27	0.50696	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.357947	0.31636	N	0.007319	T	0.34454	0.0898	M	0.66439	2.03	0.51767	D	0.999931	D;B	0.54964	0.969;0.013	P;B	0.49597	0.616;0.007	T	0.35051	-0.9804	10	0.66056	D	0.02	.	17.0504	0.86517	0.0:0.0:1.0:0.0	.	330;426	Q7Z3A2;P47895	.;AL1A3_HUMAN	K	426;330	ENSP00000332256:E426K	ENSP00000332256:E426K	E	+	1	0	ALDH1A3	99264891	1.000000	0.71417	0.909000	0.35828	0.814000	0.46013	5.316000	0.65815	2.046000	0.60703	0.650000	0.86243	GAA		0.428	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2		
CHSY1	22856	hgsc.bcm.edu	37	15	101717889	101717889	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr15:101717889G>A	ENST00000254190.3	-	3	2588	c.2113C>T	c.(2113-2115)Cga>Tga	p.R705*	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	705					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.R705*(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCACCCACTCGGACAAGATCT	0.478																																					p.R705X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2113T	15						.						102.0	112.0	109.0					15																	101717889		2203	4300	6503	99535412	SO:0001587	stop_gained	22856	exon3			AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.2113C>T	15.37:g.101717889G>A	ENSP00000254190:p.Arg705*	Somatic		Capture	SOLID	Phase_I	99535412	NM_014918	Q6UX38|Q7LFU5|Q9Y2J5	Nonsense_Mutation	SNP	ENST00000254190.3	37	CCDS10390.1	.	.	.	.	.	.	.	.	.	.	G	41	9.063306	0.99053	.	.	ENSG00000131873	ENST00000254190;ENST00000543813	.	.	.	5.6	3.47	0.39725	.	0.069705	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-20.3917	15.7793	0.78246	0.0:0.0:0.7336:0.2664	.	.	.	.	X	705;433	.	ENSP00000254190:R705X	R	-	1	2	CHSY1	99535412	0.999000	0.42202	0.951000	0.38953	0.972000	0.66771	4.242000	0.58714	1.299000	0.44798	0.561000	0.74099	CGA		0.478	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918	
CENPI	2491	hgsc.bcm.edu	37	X	100364525	100364525	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:100364525C>A	ENST00000372927.1	+	4	705	c.428C>A	c.(427-429)tCt>tAt	p.S143Y	CENPI_ENST00000372926.1_Missense_Mutation_p.S143Y|CENPI_ENST00000423383.1_Missense_Mutation_p.S143Y|CENPI_ENST00000218507.5_Missense_Mutation_p.S143Y	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	143					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)		p.S143Y(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TCAGAAGATTCTGTGGTTAAG	0.393																																					p.S143Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C428A	X						.						331.0	320.0	323.0					X																	100364525		2203	4300	6503	100251181	SO:0001583	missense	2491	exon4			X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.428C>A	X.37:g.100364525C>A	ENSP00000362018:p.Ser143Tyr	Somatic		Capture	SOLID	Phase_I	100251181	NM_006733	Q5JWZ9|Q96ED0	Missense_Mutation	SNP	ENST00000372927.1	37	CCDS14479.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752429	0.69533	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927	.	.	.	5.43	5.43	0.79202	.	0.221995	0.47455	D	0.000235	T	0.77850	0.4192	M	0.72118	2.19	0.48571	D	0.999676	D;D	0.69078	0.997;0.997	D;D	0.71184	0.972;0.972	T	0.80231	-0.1468	9	0.66056	D	0.02	-15.988	16.0581	0.80820	0.0:1.0:0.0:0.0	.	143;143	B4DZL4;Q92674	.;CENPI_HUMAN	Y	143	.	ENSP00000218507:S143Y	S	+	2	0	CENPI	100251181	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.759000	0.62227	2.258000	0.74832	0.600000	0.82982	TCT		0.393	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733	
DRP2	1821	hgsc.bcm.edu	37	X	100503522	100503522	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:100503522C>T	ENST00000395209.3	+	14	2001	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W	DRP2_ENST00000402866.1_Missense_Mutation_p.R492W|DRP2_ENST00000541709.1_Missense_Mutation_p.R414W|DRP2_ENST00000538510.1_Missense_Mutation_p.R492W	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	492					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.R489W(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CGGAAAGATGCGGGCATTGTC	0.433																																					p.R492W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1474T	X						.						256.0	238.0	244.0					X																	100503522		2203	4300	6503	100390178	SO:0001583	missense	1821	exon14			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1474C>T	X.37:g.100503522C>T	ENSP00000378635:p.Arg492Trp	Somatic		Capture	SOLID	Phase_I	100390178	NM_001939	A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444668	0.63178	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.07	3.2	0.36748	EF-hand domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.82641	0.5081	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85448	0.1159	10	0.87932	D	0	-17.0389	13.1897	0.59702	0.5212:0.4788:0.0:0.0	.	492	Q13474	DRP2_HUMAN	W	492;492;414;492	ENSP00000385038:R492W;ENSP00000378635:R492W;ENSP00000444752:R414W;ENSP00000441051:R492W	ENSP00000378635:R492W	R	+	1	2	DRP2	100390178	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.506000	0.35747	0.910000	0.36722	0.513000	0.50165	CGG		0.433	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939	
TCEAL2	140597	hgsc.bcm.edu	37	X	101382002	101382002	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:101382002C>T	ENST00000372780.1	+	3	419	c.200C>T	c.(199-201)gCg>gTg	p.A67V	TCEAL2_ENST00000329035.2_Missense_Mutation_p.A67V	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	67					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.A67V(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						CCagagagtgcgggaaaggca	0.478																																					p.A67V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C200T	X						.						63.0	60.0	61.0					X																	101382002		2203	4300	6503	101268658	SO:0001583	missense	140597	exon3			AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.200C>T	X.37:g.101382002C>T	ENSP00000361866:p.Ala67Val	Somatic		Capture	SOLID	Phase_I	101268658	NM_080390	B2R5C7	Missense_Mutation	SNP	ENST00000372780.1	37	CCDS14496.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.462734	0.43736	.	.	ENSG00000184905	ENST00000372780;ENST00000329035	T;T	0.22945	1.93;1.93	3.48	1.01	0.19927	.	0.963572	0.08496	N	0.937207	T	0.11110	0.0271	N	0.08118	0	0.09310	N	1	B	0.31581	0.329	B	0.24974	0.057	T	0.24764	-1.0151	10	0.62326	D	0.03	.	3.265	0.06861	0.6163:0.2466:0.1371:0.0	.	67	Q9H3H9	TCAL2_HUMAN	V	67	ENSP00000361866:A67V;ENSP00000332359:A67V	ENSP00000332359:A67V	A	+	2	0	TCEAL2	101268658	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.235000	0.17948	0.101000	0.17610	-1.264000	0.01445	GCG		0.478	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057605.1	NM_080390	
ESX1	80712	hgsc.bcm.edu	37	X	103498867	103498867	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:103498867G>A	ENST00000372588.4	-	2	557	c.474C>T	c.(472-474)ttC>ttT	p.F158F		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	158					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|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 (GO:0043565)	p.F158F(2)		endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GAGATTCATCGAAAAAGTTCT	0.607																																					p.F158F	Pancreas(200;1705 2227 25194 28471 45274)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C474T	X						.						53.0	53.0	53.0					X																	103498867		2203	4298	6501	103385523	SO:0001819	synonymous_variant	80712	exon2			AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.474C>T	X.37:g.103498867G>A		Somatic		Capture	SOLID	Phase_I	103385523	NM_153448	B0QYU3|Q7Z6K7	Silent	SNP	ENST00000372588.4	37	CCDS14516.1																																																																																				0.607	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448	
IL1RAPL2	26280	hgsc.bcm.edu	37	X	104478599	104478599	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:104478599T>G	ENST00000372582.1	+	4	1210	c.454T>G	c.(454-456)Tct>Gct	p.S152A	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.S152A	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	152	Ig-like C2-type 2.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)	p.S152A(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTTAGAAAAATCTGAAGTCAC	0.423																																					p.S152A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T454G	X						.						110.0	104.0	106.0					X																	104478599		2203	4299	6502	104365255	SO:0001583	missense	26280	exon4			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.454T>G	X.37:g.104478599T>G	ENSP00000361663:p.Ser152Ala	Somatic		Capture	SOLID	Phase_I	104365255	NM_017416	Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	T	2.719	-0.266986	0.05754	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.03152	4.03;4.03	5.24	4.06	0.47325	Immunoglobulin subtype (1);	0.000000	0.52532	D	0.000061	T	0.01353	0.0044	N	0.00926	-1.1	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.50171	-0.8859	10	0.10636	T	0.68	.	9.9154	0.41430	0.0:0.0:0.325:0.675	.	152	Q9NP60	IRPL2_HUMAN	A	152	ENSP00000361663:S152A;ENSP00000344976:S152A	ENSP00000344976:S152A	S	+	1	0	IL1RAPL2	104365255	1.000000	0.71417	0.977000	0.42913	0.997000	0.91878	6.278000	0.72614	0.633000	0.30452	0.441000	0.28932	TCT		0.423	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416	
COL4A5	1287	hgsc.bcm.edu	37	X	107938584	107938584	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:107938584G>A	ENST00000361603.2	+	50	5135	c.4891G>A	c.(4891-4893)Gaa>Aaa	p.E1631K	COL4A5_ENST00000328300.6_Missense_Mutation_p.E1637K	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1631	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.		Missing (in APSX). {ECO:0000269|PubMed:7853788}.		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.E1631K(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						TCCCTTCATCGAATGTCATGG	0.488									Alport syndrome with Diffuse Leiomyomatosis																												p.E1631K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4891A	X						.						164.0	142.0	150.0					X																	107938584		2203	4300	6503	107825240	SO:0001583	missense	1287	exon50	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.4891G>A	X.37:g.107938584G>A	ENSP00000354505:p.Glu1631Lys	Somatic		Capture	SOLID	Phase_I	107825240	NM_000495	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	35	5.519170	0.96416	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.94537	-3.45;-3.45	5.44	5.44	0.79542	C-type lectin fold (1);	0.000000	0.85682	D	0.000000	D	0.97729	0.9255	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98609	1.0662	10	0.87932	D	0	.	18.3768	0.90438	0.0:0.0:1.0:0.0	.	1634;1631	E7EVY4;P29400	.;CO4A5_HUMAN	K	1637;1631;1637	ENSP00000331902:E1637K;ENSP00000354505:E1631K	ENSP00000331902:E1637K	E	+	1	0	COL4A5	107825240	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.869000	0.99810	2.280000	0.76307	0.600000	0.82982	GAA		0.488	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2		
GUCY2F	2986	hgsc.bcm.edu	37	X	108718575	108718575	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:108718575A>C	ENST00000218006.2	-	2	882	c.591T>G	c.(589-591)atT>atG	p.I197M		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	197					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.I197M(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TATGCACCCAAATGTCTTCAT	0.527											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I197M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T591G	X						.						87.0	79.0	82.0					X																	108718575		2203	4300	6503	108605231	SO:0001583	missense	2986	exon2			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.591T>G	X.37:g.108718575A>C	ENSP00000218006:p.Ile197Met	Somatic	1414	Capture	SOLID	Phase_I	108605231	NM_001522	Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	A	12.31	1.899790	0.33535	.	.	ENSG00000101890	ENST00000218006	D	0.82893	-1.66	4.94	1.34	0.21922	Extracellular ligand-binding receptor (1);	0.176656	0.50627	D	0.000120	T	0.77136	0.4086	L	0.48986	1.54	0.43824	D	0.996391	B	0.33777	0.425	B	0.40256	0.324	T	0.67364	-0.5689	10	0.33141	T	0.24	.	6.3308	0.21269	0.5743:0.0:0.4257:0.0	.	197	P51841	GUC2F_HUMAN	M	197	ENSP00000218006:I197M	ENSP00000218006:I197M	I	-	3	3	GUCY2F	108605231	0.943000	0.32029	1.000000	0.80357	0.996000	0.88848	0.155000	0.16362	0.308000	0.22923	0.481000	0.45027	ATT		0.527	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522	
GUCY2F	2986	hgsc.bcm.edu	37	X	108718868	108718868	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:108718868G>A	ENST00000218006.2	-	2	589	c.298C>T	c.(298-300)Ctc>Ttc	p.L100F		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	100					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.L100F(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCTTCATTGAGAATCACGTAT	0.498											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L100F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C298T	X						.						117.0	119.0	118.0					X																	108718868		2203	4300	6503	108605524	SO:0001583	missense	2986	exon2			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.298C>T	X.37:g.108718868G>A	ENSP00000218006:p.Leu100Phe	Somatic	1414	Capture	SOLID	Phase_I	108605524	NM_001522	Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.594818	0.46318	.	.	ENSG00000101890	ENST00000218006	D	0.82803	-1.65	4.94	2.13	0.27403	Extracellular ligand-binding receptor (1);	0.151222	0.46145	N	0.000315	T	0.80336	0.4604	M	0.79693	2.465	0.53688	D	0.999973	B	0.15473	0.013	B	0.26693	0.072	T	0.68796	-0.5314	10	0.26408	T	0.33	.	5.9324	0.19146	0.1855:0.1548:0.6597:0.0	.	100	P51841	GUC2F_HUMAN	F	100	ENSP00000218006:L100F	ENSP00000218006:L100F	L	-	1	0	GUCY2F	108605524	1.000000	0.71417	0.998000	0.56505	0.881000	0.50899	2.510000	0.45468	0.200000	0.20447	0.594000	0.82650	CTC		0.498	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522	
TRPC5	7224	hgsc.bcm.edu	37	X	111090573	111090573	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:111090573G>A	ENST00000262839.2	-	6	2387	c.1469C>T	c.(1468-1470)tCg>tTg	p.S490L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	490					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.S490L(2)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAGACGCAACGAACTTAAAAT	0.463																																					p.S490L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1469T	X						.						147.0	123.0	131.0					X																	111090573		2203	4300	6503	110977229	SO:0001583	missense	7224	exon6			AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1469C>T	X.37:g.111090573G>A	ENSP00000262839:p.Ser490Leu	Somatic		Capture	SOLID	Phase_I	110977229	NM_012471	B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081694	0.94050	.	.	ENSG00000072315	ENST00000262839	D	0.98090	-4.71	5.51	5.51	0.81932	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98270	0.9427	M	0.80982	2.52	0.80722	D	1	P;D	0.62365	0.882;0.991	B;P	0.56612	0.393;0.802	D	0.98192	1.0463	10	0.33940	T	0.23	0.0239	18.5562	0.91085	0.0:0.0:1.0:0.0	.	491;490	Q59G51;Q9UL62	.;TRPC5_HUMAN	L	490	ENSP00000262839:S490L	ENSP00000262839:S490L	S	-	2	0	TRPC5	110977229	1.000000	0.71417	0.936000	0.37596	0.988000	0.76386	9.814000	0.99346	2.325000	0.78763	0.529000	0.55759	TCG		0.463	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471	
AKAP14	158798	hgsc.bcm.edu	37	X	119048782	119048782	+	Missense_Mutation	SNP	G	G	A	rs373853881		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:119048782G>A	ENST00000371431.3	+	5	656	c.382G>A	c.(382-384)Gta>Ata	p.V128I	AKAP14_ENST00000371425.4_Intron|AKAP14_ENST00000371423.2_Intron|AKAP14_ENST00000334356.2_Intron	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	128					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)		p.V128I(2)		endometrium(4)|large_intestine(1)|lung(8)	13						TGACCTACCCGTAGCACGAAT	0.468																																					p.V128I												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G382A	X						.	G	ILE/VAL,	1,3834		0,0,1,1632,570	239.0	190.0	207.0		382,	-3.0	0.0	X		207	0,6728		0,0,0,2428,1872	no	missense,intron	AKAP14	NM_178813.5,NM_001008534.1	29,	0,0,1,4060,2442	AA,AG,A,GG,G		0.0,0.0261,0.0095	possibly-damaging,	128/198,	119048782	1,10562	2203	4300	6503	118932810	SO:0001583	missense	158798	exon5			AF514780	CCDS14591.1, CCDS35376.1, CCDS35377.1	Xq24	2008-02-05			ENSG00000186471	ENSG00000186471		"""A-kinase anchor proteins"""	24061	protein-coding gene	gene with protein product		300462				12475942	Standard	NM_178813		Approved	AKAP28	uc004ese.3	Q86UN6	OTTHUMG00000022285	ENST00000371431.3:c.382G>A	X.37:g.119048782G>A	ENSP00000360485:p.Val128Ile	Somatic		Capture	SOLID	Phase_I	118932810	NM_178813	A6NNZ0|Q86UN4|Q86UN5	Missense_Mutation	SNP	ENST00000371431.3	37	CCDS14591.1	.	.	.	.	.	.	.	.	.	.	G	4.142	0.024730	0.08054	2.61E-4	0.0	ENSG00000186471	ENST00000371431	.	.	.	4.73	-3.04	0.05412	.	0.946363	0.08784	N	0.894203	T	0.04092	0.0114	N	0.01109	-1.01	0.09310	N	1	P	0.34522	0.455	B	0.21546	0.035	T	0.16808	-1.0390	9	0.02654	T	1	0.0	1.3192	0.02113	0.3664:0.1516:0.3317:0.1503	.	128	Q86UN6	AKA28_HUMAN	I	128	.	ENSP00000360485:V128I	V	+	1	0	AKAP14	118932810	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	-0.509000	0.06336	-1.014000	0.03379	-0.340000	0.08031	GTA		0.468	AKAP14-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058078.1	NM_178813	
NKAP	79576	hgsc.bcm.edu	37	X	119070328	119070328	+	Missense_Mutation	SNP	G	G	A	rs10577974		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:119070328G>A	ENST00000371410.3	-	4	771	c.605C>T	c.(604-606)tCg>tTg	p.S202L	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	202	Lys-rich.|Necessary for interaction with CIR1.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.S202L(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TTTTCTTTTCGATGATTTTTT	0.343																																					p.S202L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C605T	X						.						135.0	128.0	130.0					X																	119070328		2201	4293	6494	118954356	SO:0001583	missense	79576	exon4			BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.605C>T	X.37:g.119070328G>A	ENSP00000360464:p.Ser202Leu	Somatic		Capture	SOLID	Phase_I	118954356	NM_024528	Q6IPW6|Q96BQ2|Q9H638	Missense_Mutation	SNP	ENST00000371410.3	37	CCDS14592.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446384	0.43429	.	.	ENSG00000101882	ENST00000371410	T	0.16897	2.31	4.47	4.47	0.54385	.	0.344380	0.29980	N	0.010706	T	0.37919	0.1021	M	0.77103	2.36	0.45139	D	0.998154	D;D	0.69078	0.99;0.997	P;P	0.60789	0.603;0.879	T	0.19484	-1.0304	10	0.38643	T	0.18	0.0318	13.7765	0.63057	0.0:0.0:1.0:0.0	.	202;202	Q8N5F7;A0PJ73	NKAP_HUMAN;.	L	202	ENSP00000360464:S202L	ENSP00000360464:S202L	S	-	2	0	NKAP	118954356	1.000000	0.71417	0.965000	0.40720	0.972000	0.66771	4.685000	0.61693	1.960000	0.56953	0.594000	0.82650	TCG		0.343	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528	
LAMP2	3920	hgsc.bcm.edu	37	X	119590509	119590509	+	Silent	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:119590509A>C	ENST00000200639.4	-	2	316	c.180T>G	c.(178-180)acT>acG	p.T60T	LAMP2_ENST00000371335.4_Silent_p.T60T|LAMP2_ENST00000538785.1_Intron|LAMP2_ENST00000540603.1_Silent_p.T13T|LAMP2_ENST00000434600.2_Silent_p.T60T			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	60	First lumenal domain.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)	p.T60T(2)		endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						TACTTACATAAGTTTTATTTG	0.289																																					p.T60T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T180G	X						.						31.0	28.0	29.0					X																	119590509		2202	4298	6500	119474537	SO:0001819	synonymous_variant	3920	exon2			X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"""CD molecules"""	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.180T>G	X.37:g.119590509A>C		Somatic		Capture	SOLID	Phase_I	119474537	NM_002294	A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Silent	SNP	ENST00000200639.4	37	CCDS14599.1																																																																																				0.289	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1		
STAG2	10735	hgsc.bcm.edu	37	X	123197837	123197837	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:123197837G>T	ENST00000371160.1	+	20	2251	c.1961G>T	c.(1960-1962)aGa>aTa	p.R654I	STAG2_ENST00000371144.3_Missense_Mutation_p.R654I|STAG2_ENST00000371157.3_Missense_Mutation_p.R654I|STAG2_ENST00000354548.5_Missense_Mutation_p.R585I|STAG2_ENST00000218089.9_Missense_Mutation_p.R654I|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Missense_Mutation_p.R654I	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	654					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.R654I(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GATATTTCAAGAAGTCAACTG	0.333																																					p.R654I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1961T	X						.						63.0	55.0	58.0					X																	123197837		2203	4300	6503	123025518	SO:0001583	missense	10735	exon20			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.1961G>T	X.37:g.123197837G>T	ENSP00000360202:p.Arg654Ile	Somatic		Capture	SOLID	Phase_I	123025518	NM_001042751	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308874	0.81247	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.34667	1.74;1.36;1.35;1.35;1.74;1.35	5.28	4.41	0.53225	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.47266	0.1436	M	0.77103	2.36	0.80722	D	1	P;P	0.44776	0.518;0.843	P;P	0.50970	0.462;0.655	T	0.41142	-0.9525	10	0.20046	T	0.44	-5.2773	9.7766	0.40623	0.1623:0.0:0.8377:0.0	.	654;654	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	I	654;585;654;654;654;654	ENSP00000218089:R654I;ENSP00000346555:R585I;ENSP00000360202:R654I;ENSP00000360199:R654I;ENSP00000360187:R654I;ENSP00000360186:R654I	ENSP00000218089:R654I	R	+	2	0	STAG2	123025518	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.804000	0.62554	1.010000	0.39314	-0.208000	0.12717	AGA		0.333	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603	
TENM1	10178	hgsc.bcm.edu	37	X	123518565	123518565	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:123518565G>A	ENST00000371130.3	-	29	6258	c.6195C>T	c.(6193-6195)taC>taT	p.Y2065Y	TENM1_ENST00000422452.2_Silent_p.Y2072Y|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2065					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.Y2067Y(1)									CAACATATCGGTAAAGATCTA	0.393																																					p.Y2071Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6213T	X						.						130.0	114.0	119.0					X																	123518565		2203	4300	6503	123346246	SO:0001819	synonymous_variant	10178	exon30			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.6195C>T	X.37:g.123518565G>A		Somatic		Capture	SOLID	Phase_I	123346246	NM_001163279	B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	CCDS14609.1																																																																																				0.393	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
TLR7	51284	hgsc.bcm.edu	37	X	12906396	12906396	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:12906396T>G	ENST00000380659.3	+	3	2908	c.2769T>G	c.(2767-2769)caT>caG	p.H923Q		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	923	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|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)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)	p.H923Q(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	GAGAGAAACATTTTAATTTAT	0.458																																					p.H923Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2769G	X						.						96.0	101.0	99.0					X																	12906396		2203	4300	6503	12816317	SO:0001583	missense	51284	exon3			AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.2769T>G	X.37:g.12906396T>G	ENSP00000370034:p.His923Gln	Somatic		Capture	SOLID	Phase_I	12816317	NM_016562	D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	T	4.407	0.075233	0.08485	.	.	ENSG00000196664	ENST00000380659	T	0.02301	4.35	5.75	3.27	0.37495	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.361408	0.27896	N	0.017410	T	0.01320	0.0043	N	0.20401	0.57	0.26495	N	0.974863	B	0.10296	0.003	B	0.13407	0.009	T	0.46345	-0.9198	10	0.12766	T	0.61	.	0.7859	0.01048	0.2819:0.1014:0.2629:0.3538	.	923	Q9NYK1	TLR7_HUMAN	Q	923	ENSP00000370034:H923Q	ENSP00000370034:H923Q	H	+	3	2	TLR7	12816317	0.895000	0.30542	0.998000	0.56505	0.974000	0.67602	0.198000	0.17217	0.817000	0.34445	0.486000	0.48141	CAT		0.458	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562	
TENM1	10178	hgsc.bcm.edu	37	X	123554656	123554656	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:123554656G>A	ENST00000371130.3	-	24	4529	c.4466C>T	c.(4465-4467)gCc>gTc	p.A1489V	TENM1_ENST00000422452.2_Missense_Mutation_p.A1496V|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1489					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.A1491V(1)									TGCATCTTTGGCATAGCCACC	0.453																																					p.A1495V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4484T	X						.						95.0	84.0	88.0					X																	123554656		2203	4300	6503	123382337	SO:0001583	missense	10178	exon25			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.4466C>T	X.37:g.123554656G>A	ENSP00000360171:p.Ala1489Val	Somatic		Capture	SOLID	Phase_I	123382337	NM_001163279	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825151	0.90955	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.89939	-2.59;-2.55	5.49	5.49	0.81192	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.95778	0.8626	M	0.91561	3.22	0.80722	D	1	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.79108	0.985;0.94;0.992	D	0.96459	0.9340	10	0.66056	D	0.02	.	18.4621	0.90743	0.0:0.0:1.0:0.0	.	1495;1496;1489	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	V	1489;1496	ENSP00000360171:A1489V;ENSP00000403954:A1496V	ENSP00000360171:A1489V	A	-	2	0	ODZ1	123382337	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.301000	0.77427	0.600000	0.82982	GCC		0.453	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
SMARCA1	6594	hgsc.bcm.edu	37	X	128641933	128641933	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:128641933C>A	ENST00000371122.4	-	7	1080	c.951G>T	c.(949-951)aaG>aaT	p.K317N	SMARCA1_ENST00000478420.1_5'Flank|SMARCA1_ENST00000371123.1_Missense_Mutation_p.K317N|SMARCA1_ENST00000371121.3_Missense_Mutation_p.K317N	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	317	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.K317N(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ATTTTTCATTCTTTATTCTGT	0.284																																					p.K317N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G951T	X						.						42.0	37.0	39.0					X																	128641933		2202	4299	6501	128469614	SO:0001583	missense	6594	exon7			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.951G>T	X.37:g.128641933C>A	ENSP00000360163:p.Lys317Asn	Somatic		Capture	SOLID	Phase_I	128469614	NM_139035	Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.924219	0.73213	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.95205	-3.64;-3.64;-3.64;-3.64	5.53	4.59	0.56863	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000003	D	0.98333	0.9447	H	0.99634	4.67	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96709	0.9524	10	0.87932	D	0	-18.8318	6.6861	0.23146	0.0:0.748:0.0:0.252	.	296;317;317;317	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	N	317;317;317;296	ENSP00000360162:K317N;ENSP00000360164:K317N;ENSP00000360163:K317N;ENSP00000404275:K296N	ENSP00000360162:K317N	K	-	3	2	SMARCA1	128469614	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.655000	0.46707	1.023000	0.39654	0.544000	0.68410	AAG		0.284	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069	
OCRL	4952	hgsc.bcm.edu	37	X	128696421	128696421	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:128696421C>T	ENST00000371113.4	+	11	1165	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*	OCRL_ENST00000357121.5_Nonsense_Mutation_p.R334*	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	334	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.R334*(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GGATCAGTGTCGATACATTCG	0.393																																					p.R334X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1000T	X	GRCh37	CM990983	OCRL	M		.						229.0	199.0	209.0					X																	128696421		2203	4300	6503	128524102	SO:0001587	stop_gained	4952	exon11			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.1000C>T	X.37:g.128696421C>T	ENSP00000360154:p.Arg334*	Somatic		Capture	SOLID	Phase_I	128524102	NM_001587	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Nonsense_Mutation	SNP	ENST00000371113.4	37	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	C	38	6.751295	0.97813	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	.	.	.	5.54	4.6	0.57074	.	0.874133	0.10215	N	0.701682	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	9.7603	0.40528	0.4371:0.5628:0.0:0.0	.	.	.	.	X	334	.	ENSP00000349635:R334X	R	+	1	2	OCRL	128524102	0.011000	0.17503	0.161000	0.22692	0.982000	0.71751	1.939000	0.40213	2.316000	0.78162	0.513000	0.50165	CGA		0.393	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	130217158	130217158	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:130217158G>A	ENST00000276211.5	+	3	618	c.273G>A	c.(271-273)ccG>ccA	p.P91P	ARHGAP36_ENST00000370922.1_Silent_p.P79P|ARHGAP36_ENST00000370921.1_5'Flank	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	91					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.P91P(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						TTGACCGTCCGAACACCTTGG	0.413																																					p.P91P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G273A	X						.						108.0	109.0	109.0					X																	130217158		2203	4300	6503	130044839	SO:0001819	synonymous_variant	158763	exon3				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.273G>A	X.37:g.130217158G>A		Somatic		Capture	SOLID	Phase_I	130044839	NM_144967	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Silent	SNP	ENST00000276211.5	37	CCDS14628.1																																																																																				0.413	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967	
ARHGAP36	158763	hgsc.bcm.edu	37	X	130219642	130219642	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:130219642C>T	ENST00000276211.5	+	8	1381	c.1036C>T	c.(1036-1038)Cgt>Tgt	p.R346C	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R334C|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R210C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	346	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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.R346C(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						TACCCTGGAGCGTCTGCTGAA	0.488																																					p.R346C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1036T	X						.						189.0	189.0	189.0					X																	130219642		2203	4300	6503	130047323	SO:0001583	missense	158763	exon8				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.1036C>T	X.37:g.130219642C>T	ENSP00000276211:p.Arg346Cys	Somatic		Capture	SOLID	Phase_I	130047323	NM_144967	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993143	0.54041	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	4.98	3.22	0.36961	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.47093	D	0.000248	T	0.22282	0.0537	M	0.73962	2.25	0.58432	D	0.999993	B;B;B	0.17268	0.017;0.017;0.021	B;B;B	0.15052	0.007;0.007;0.012	T	0.03829	-1.1000	10	0.39692	T	0.17	.	6.6842	0.23136	0.0:0.7822:0.0:0.2178	.	315;334;346	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	C	346;334;315;210	ENSP00000276211:R346C;ENSP00000359960:R334C;ENSP00000408515:R315C;ENSP00000359959:R210C	ENSP00000276211:R346C	R	+	1	0	ARHGAP36	130047323	1.000000	0.71417	0.954000	0.39281	0.899000	0.52679	3.053000	0.49901	0.503000	0.28060	0.600000	0.82982	CGT		0.488	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967	
SAGE1	55511	hgsc.bcm.edu	37	X	134991046	134991046	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:134991046C>T	ENST00000370709.3	+	12	1465	c.1465C>T	c.(1465-1467)Cgt>Tgt	p.R489C	SAGE1_ENST00000324447.3_Missense_Mutation_p.R489C|SAGE1_ENST00000535938.1_Missense_Mutation_p.R489C|SAGE1_ENST00000537770.1_Intron			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	489						nucleus (GO:0005634)		p.R489C(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TCACAGTGTTCGTGAAGAGAA	0.463																																					p.R489C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1465T	X						.						171.0	126.0	141.0					X																	134991046		2203	4300	6503	134818712	SO:0001583	missense	55511	exon13			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.1465C>T	X.37:g.134991046C>T	ENSP00000359743:p.Arg489Cys	Somatic		Capture	SOLID	Phase_I	134818712	NM_018666	Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	C	8.314	0.822841	0.16678	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000370709	T;T;T	0.37058	1.22;1.22;1.22	1.2	1.2	0.21068	.	0.082064	0.50627	U	0.000102	T	0.16471	0.0396	N	0.19112	0.55	0.09310	N	0.999999	P	0.36282	0.546	B	0.28916	0.096	T	0.10965	-1.0607	10	0.39692	T	0.17	.	5.3778	0.16174	0.0:1.0:0.0:0.0	.	489	Q9NXZ1	SAGE1_HUMAN	C	489	ENSP00000323191:R489C;ENSP00000445959:R489C;ENSP00000359743:R489C	ENSP00000323191:R489C	R	+	1	0	SAGE1	134818712	0.047000	0.20315	0.007000	0.13788	0.007000	0.05969	0.499000	0.22546	0.885000	0.36088	0.272000	0.19324	CGT		0.463	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666	
GPR112	139378	hgsc.bcm.edu	37	X	135445697	135445697	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:135445697T>A	ENST00000394143.1	+	13	7630	c.7339T>A	c.(7339-7341)Ttg>Atg	p.L2447M	GPR112_ENST00000370652.1_Missense_Mutation_p.L2447M|GPR112_ENST00000394141.1_Missense_Mutation_p.L2242M|GPR112_ENST00000412101.1_Missense_Mutation_p.L2242M|GPR112_ENST00000287534.4_Missense_Mutation_p.L2245M	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2447					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.L2447M(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACAATGCAAATTGCTTCAAGA	0.358																																					p.L2447M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T7339A	X						.						127.0	116.0	120.0					X																	135445697		2203	4300	6503	135273363	SO:0001583	missense	139378	exon13			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.7339T>A	X.37:g.135445697T>A	ENSP00000377699:p.Leu2447Met	Somatic		Capture	SOLID	Phase_I	135273363	NM_153834	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	T	17.61	3.431388	0.62844	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.32023	1.52;1.52;1.47;1.7;1.47	5.67	3.29	0.37713	.	.	.	.	.	T	0.35941	0.0949	N	0.24115	0.695	0.18873	N	0.999985	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.10567	-1.0624	9	0.66056	D	0.02	.	4.5444	0.12074	0.0:0.3592:0.0:0.6408	.	2242;2447	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	M	2447;2447;2242;2245;2242	ENSP00000377699:L2447M;ENSP00000359686:L2447M;ENSP00000416526:L2242M;ENSP00000287534:L2245M;ENSP00000377697:L2242M	ENSP00000287534:L2245M	L	+	1	2	GPR112	135273363	0.700000	0.27796	0.908000	0.35775	0.943000	0.58893	0.006000	0.13152	0.750000	0.32877	0.486000	0.48141	TTG		0.358	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
HTATSF1	27336	hgsc.bcm.edu	37	X	135593995	135593995	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:135593995C>T	ENST00000218364.4	+	9	2265	c.2091C>T	c.(2089-2091)ttC>ttT	p.F697F	HTATSF1_ENST00000535601.1_Silent_p.F697F	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	697	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.F697F(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AAAAGTTGTTCGAAGATGATG	0.418													C|||	1	0.000264901	0.0008	0.0	3775	,	,		2097	0.0		0.0	False		,,,				2504	0.0				p.F697F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2091T	X						.						227.0	195.0	206.0					X																	135593995		2203	4300	6503	135421661	SO:0001819	synonymous_variant	27336	exon10			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.2091C>T	X.37:g.135593995C>T		Somatic		Capture	SOLID	Phase_I	135421661	NM_001163280	D3DWG9|Q59G06|Q99730	Silent	SNP	ENST00000218364.4	37	CCDS14657.1																																																																																				0.418	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500	
VGLL1	51442	hgsc.bcm.edu	37	X	135618202	135618202	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:135618202C>T	ENST00000370634.3	+	2	193	c.23C>T	c.(22-24)gCc>gTc	p.A8V		NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1	8					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.A8V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					AAGAAGACTGCCATCCGGCTG	0.493																																					p.A8V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C23T	X						.						75.0	74.0	74.0					X																	135618202		2203	4300	6503	135445868	SO:0001583	missense	51442	exon2			AF137387	CCDS14658.1	Xq26.3	2014-03-03	2014-03-03		ENSG00000102243	ENSG00000102243			20985	protein-coding gene	gene with protein product		300583	"""vestigial like 1 (Drosophila)"""			10518497	Standard	NM_016267		Approved	TONDU, TDU	uc004ezy.3	Q99990	OTTHUMG00000022509	ENST00000370634.3:c.23C>T	X.37:g.135618202C>T	ENSP00000359668:p.Ala8Val	Somatic		Capture	SOLID	Phase_I	135445868	NM_016267	Q5H915	Missense_Mutation	SNP	ENST00000370634.3	37	CCDS14658.1	.	.	.	.	.	.	.	.	.	.	C	9.189	1.025661	0.19512	.	.	ENSG00000102243	ENST00000370634;ENST00000430688	T	0.47869	0.83	4.36	-2.03	0.07365	.	0.766398	0.12485	N	0.464774	T	0.28400	0.0702	L	0.29908	0.895	0.09310	N	1	P	0.39480	0.675	B	0.29077	0.098	T	0.02269	-1.1185	10	0.51188	T	0.08	1.6459	10.2036	0.43099	0.4463:0.3422:0.2115:0.0	.	8	Q99990	VGLL1_HUMAN	V	8;5	ENSP00000359668:A8V	ENSP00000359668:A8V	A	+	2	0	VGLL1	135445868	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.308000	0.19314	-1.945000	0.01036	-0.918000	0.02743	GCC		0.493	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058493.1	NM_016267	
CD40LG	959	hgsc.bcm.edu	37	X	135732494	135732494	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:135732494G>T	ENST00000370629.2	+	2	282	c.226G>T	c.(226-228)Gaa>Taa	p.E76*	CD40LG_ENST00000370628.2_Nonsense_Mutation_p.E76*	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	76					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)	p.E76*(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					CAACACAGGAGAAAGATCCTT	0.338									Immune Deficiency with Hyper-IgM																												p.E76X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G226T	X	GRCh37	CM960252	CD40LG	M		.						119.0	115.0	116.0					X																	135732494		2203	4300	6503	135560160	SO:0001587	stop_gained	959	exon2	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11935	protein-coding gene	gene with protein product	"""CD40 antigen ligand"", ""tumor necrosis factor (ligand) superfamily member 5"", ""T-B cell-activating molecule"", ""TNF-related activation protein"", ""hyper-IgM syndrome"""	300386	"""tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"""	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.226G>T	X.37:g.135732494G>T	ENSP00000359663:p.Glu76*	Somatic		Capture	SOLID	Phase_I	135560160	NM_000074		Nonsense_Mutation	SNP	ENST00000370629.2	37	CCDS14659.1	.	.	.	.	.	.	.	.	.	.	G	36	5.623015	0.96660	.	.	ENSG00000102245	ENST00000370629;ENST00000370628	.	.	.	5.45	5.45	0.79879	.	0.570905	0.18435	N	0.141316	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-25.0184	13.8282	0.63363	0.0:0.0:1.0:0.0	.	.	.	.	X	76	.	ENSP00000359662:E76X	E	+	1	0	CD40LG	135560160	1.000000	0.71417	0.966000	0.40874	0.899000	0.52679	4.226000	0.58606	2.423000	0.82170	0.600000	0.82982	GAA		0.338	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058501.1	NM_000074	
CD40LG	959	hgsc.bcm.edu	37	X	135741495	135741495	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:135741495C>T	ENST00000370629.2	+	5	763	c.707C>T	c.(706-708)tCg>tTg	p.S236L	CD40LG_ENST00000370628.2_Missense_Mutation_p.S215L	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	236					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)	p.S236L(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					CCAGGTGCTTCGGTGTTTGTC	0.493									Immune Deficiency with Hyper-IgM																												p.S236L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C707T	X						.						174.0	152.0	159.0					X																	135741495		2203	4300	6503	135569161	SO:0001583	missense	959	exon5	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11935	protein-coding gene	gene with protein product	"""CD40 antigen ligand"", ""tumor necrosis factor (ligand) superfamily member 5"", ""T-B cell-activating molecule"", ""TNF-related activation protein"", ""hyper-IgM syndrome"""	300386	"""tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"""	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.707C>T	X.37:g.135741495C>T	ENSP00000359663:p.Ser236Leu	Somatic		Capture	SOLID	Phase_I	135569161	NM_000074		Missense_Mutation	SNP	ENST00000370629.2	37	CCDS14659.1	.	.	.	.	.	.	.	.	.	.	C	8.365	0.834070	0.16820	.	.	ENSG00000102245	ENST00000370629;ENST00000370628	D;D	0.94687	-3.49;-3.49	5.47	5.47	0.80525	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.183442	0.42172	D	0.000752	D	0.94798	0.8320	L	0.43152	1.355	0.28190	N	0.927784	D;P	0.89917	1.0;0.935	D;B	0.97110	1.0;0.31	D	0.88947	0.3384	10	0.25751	T	0.34	-35.4517	9.1893	0.37189	0.0:0.8315:0.0:0.1685	.	215;236	Q3L8U2;P29965	.;CD40L_HUMAN	L	236;215	ENSP00000359663:S236L;ENSP00000359662:S215L	ENSP00000359662:S215L	S	+	2	0	CD40LG	135569161	0.994000	0.37717	0.936000	0.37596	0.989000	0.77384	1.980000	0.40618	2.277000	0.76020	0.600000	0.82982	TCG		0.493	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058501.1	NM_000074	
ARHGEF6	9459	hgsc.bcm.edu	37	X	135770112	135770112	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:135770112G>A	ENST00000250617.6	-	11	2429	c.1224C>T	c.(1222-1224)atC>atT	p.I408I	ARHGEF6_ENST00000535227.1_Silent_p.I281I|ARHGEF6_ENST00000370622.1_Silent_p.I254I|ARHGEF6_ENST00000370620.1_Silent_p.I254I	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	408	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|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-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I408I(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TGAATGCTACGATTGCTTTCA	0.363																																					p.I408I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1224T	X						.						155.0	145.0	148.0					X																	135770112		2203	4300	6503	135597778	SO:0001819	synonymous_variant	9459	exon11			D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.1224C>T	X.37:g.135770112G>A		Somatic		Capture	SOLID	Phase_I	135597778	NM_004840	A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Silent	SNP	ENST00000250617.6	37	CCDS14660.1																																																																																				0.363	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840	
GPM6B	2824	hgsc.bcm.edu	37	X	13801537	13801537	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:13801537C>A	ENST00000356942.5	-	3	793	c.352G>T	c.(352-354)Gaa>Taa	p.E118*	GPM6B_ENST00000316715.4_Nonsense_Mutation_p.E158*|GPM6B_ENST00000398361.3_Nonsense_Mutation_p.E32*|GPM6B_ENST00000493677.1_Nonsense_Mutation_p.E132*|GPM6B_ENST00000454189.2_Nonsense_Mutation_p.E99*|GPM6B_ENST00000355135.2_Nonsense_Mutation_p.E158*	NM_005278.3	NP_005269.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	118					cell differentiation (GO:0030154)|extracellular matrix assembly (GO:0085029)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of serotonin uptake (GO:0051612)|nervous system development (GO:0007399)|ossification (GO:0001503)|positive regulation of bone mineralization (GO:0030501)|protein transport (GO:0015031)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of focal adhesion assembly (GO:0051893)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)		p.E118*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						CCGTGCAGTTCTTTCACTGCA	0.433																																					p.E158X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G472T	X						.						159.0	134.0	142.0					X																	13801537		2203	4300	6503	13711458	SO:0001587	stop_gained	2824	exon4				CCDS14158.1, CCDS35206.1, CCDS35207.1, CCDS48084.1	Xp22.2	2010-08-03			ENSG00000046653	ENSG00000046653			4461	protein-coding gene	gene with protein product		300051				8661015	Standard	NM_001001995		Approved	M6B, MGC17150, MGC54284	uc004cvw.3	Q13491	OTTHUMG00000021162	ENST00000356942.5:c.352G>T	X.37:g.13801537C>A	ENSP00000349420:p.Glu118*	Somatic		Capture	SOLID	Phase_I	13711458	NM_001001995	O76077|Q86X43|Q8N956	Nonsense_Mutation	SNP	ENST00000356942.5	37	CCDS14158.1	.	.	.	.	.	.	.	.	.	.	C	39	7.374717	0.98245	.	.	ENSG00000046653	ENST00000316715;ENST00000454189;ENST00000493677;ENST00000355135;ENST00000356942;ENST00000398361;ENST00000495211;ENST00000493085;ENST00000468080	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-10.9022	18.0423	0.89322	0.0:1.0:0.0:0.0	.	.	.	.	X	158;99;132;158;118;32;83;32;32	.	ENSP00000316861:E158X	E	-	1	0	GPM6B	13711458	1.000000	0.71417	0.968000	0.41197	0.995000	0.86356	5.652000	0.67959	2.283000	0.76528	0.600000	0.82982	GAA		0.433	GPM6B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055822.1	NM_001001995	
RBMX	27316	hgsc.bcm.edu	37	X	135957536	135957536	+	Silent	SNP	T	T	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:135957536T>C	ENST00000320676.7	-	7	817	c.663A>G	c.(661-663)tcA>tcG	p.S221S	RBMX_ENST00000570135.1_Silent_p.S86S|RBMX_ENST00000562646.1_Silent_p.S221S|RBMX_ENST00000431446.3_Missense_Mutation_p.Q113R|RBMX_ENST00000565438.1_Silent_p.S93S|RBMX_ENST00000496459.2_5'Flank	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	221	Necessary for the association to nascent RNAPII transcripts and nuclear localization.				cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S221S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					AATCTCTGCTTGAATAGCTAC	0.358																																					p.Q113R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A338G	X						.						120.0	101.0	107.0					X																	135957536		2203	4300	6503	135785202	SO:0001819	synonymous_variant	27316	exon5				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.663A>G	X.37:g.135957536T>C		Somatic		Capture	SOLID	Phase_I	135785202	NM_001164803	B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Silent	SNP	ENST00000320676.7	37	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	14.57	2.576254	0.45902	.	.	ENSG00000147274	ENST00000431446	T	0.05996	3.36	5.6	-2.86	0.05717	.	.	.	.	.	T	0.03263	0.0095	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44757	-0.9307	8	0.29301	T	0.29	.	1.2816	0.02042	0.1488:0.1835:0.2903:0.3773	.	113	B4E3U4	.	R	113	ENSP00000411989:Q113R	ENSP00000411989:Q113R	Q	-	2	0	RBMX	135785202	0.997000	0.39634	0.996000	0.52242	0.975000	0.68041	0.259000	0.18405	-0.257000	0.09459	-0.362000	0.07510	CAA		0.358	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139	
MCF2	4168	hgsc.bcm.edu	37	X	138687892	138687892	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:138687892C>A	ENST00000370576.4	-	13	1746	c.1537G>T	c.(1537-1539)Gaa>Taa	p.E513*	MCF2_ENST00000414978.1_Nonsense_Mutation_p.E573*|MCF2_ENST00000338585.6_Nonsense_Mutation_p.E529*|MCF2_ENST00000519895.1_Nonsense_Mutation_p.E589*|MCF2_ENST00000370578.4_Nonsense_Mutation_p.E658*|MCF2_ENST00000483690.1_5'Flank|MCF2_ENST00000520602.1_Nonsense_Mutation_p.E573*|MCF2_ENST00000370573.4_Nonsense_Mutation_p.E513*|MCF2_ENST00000536274.1_Nonsense_Mutation_p.E474*	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	513	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E513*(1)|p.E589*(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GTATACAGTTCTCGAACATAA	0.348																																					p.E573X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1717T	X						.						204.0	199.0	200.0					X																	138687892		2203	4300	6503	138515558	SO:0001587	stop_gained	4168	exon16				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1537G>T	X.37:g.138687892C>A	ENSP00000359608:p.Glu513*	Somatic		Capture	SOLID	Phase_I	138515558	NM_001099855	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Nonsense_Mutation	SNP	ENST00000370576.4	37	CCDS14667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.474427|6.474427	0.97594|0.97594	.|.	.|.	ENSG00000101977|ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585|ENST00000437564	.|T	.|0.66460	.|-0.21	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79997	.|0.4543	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.82372	.|-0.0490	.|5	0.72032|0.72032	D|D	0.01|0.01	.|.	17.3281|17.3281	0.87255|0.87255	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	573;513;474;658;573;116;589;513;529|16	.|ENSP00000403271:R16I	ENSP00000342204:E529X|ENSP00000403271:R16I	E|R	-|-	1|2	0|0	MCF2|MCF2	138515558|138515558	1.000000|1.000000	0.71417|0.71417	0.868000|0.868000	0.34077|0.34077	0.200000|0.200000	0.23975|0.23975	6.958000|6.958000	0.76025|0.76025	2.305000|2.305000	0.77605|0.77605	0.538000|0.538000	0.68166|0.68166	GAA|AGA		0.348	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369	
MCF2	4168	hgsc.bcm.edu	37	X	138687895	138687895	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:138687895G>A	ENST00000370576.4	-	13	1743	c.1534C>T	c.(1534-1536)Cga>Tga	p.R512*	MCF2_ENST00000414978.1_Nonsense_Mutation_p.R572*|MCF2_ENST00000338585.6_Nonsense_Mutation_p.R528*|MCF2_ENST00000519895.1_Nonsense_Mutation_p.R588*|MCF2_ENST00000370578.4_Nonsense_Mutation_p.R657*|MCF2_ENST00000483690.1_5'Flank|MCF2_ENST00000520602.1_Nonsense_Mutation_p.R572*|MCF2_ENST00000370573.4_Nonsense_Mutation_p.R512*|MCF2_ENST00000536274.1_Nonsense_Mutation_p.R473*	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	512	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R588*(1)|p.R512*(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TACAGTTCTCGAACATAAACT	0.343																																					p.R572X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1714T	X						.						198.0	193.0	195.0					X																	138687895		2203	4300	6503	138515561	SO:0001587	stop_gained	4168	exon16				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1534C>T	X.37:g.138687895G>A	ENSP00000359608:p.Arg512*	Somatic		Capture	SOLID	Phase_I	138515561	NM_001099855	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Nonsense_Mutation	SNP	ENST00000370576.4	37	CCDS14667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.032626|6.032626	0.97221|0.97221	.|.	.|.	ENSG00000101977|ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585|ENST00000437564	.|.	.|.	.|.	5.48|5.48	3.65|3.65	0.41850|0.41850	.|.	0.353444|.	0.30219|.	N|.	0.010126|.	.|T	.|0.43919	.|0.1269	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.53578	.|-0.8419	.|3	0.02654|.	T|.	1|.	.|.	7.5645|7.5645	0.27870|0.27870	0.0:0.4181:0.4489:0.133|0.0:0.4181:0.4489:0.133	.|.	.|.	.|.	.|.	X|L	572;512;473;657;572;115;588;512;528|15	.|.	ENSP00000342204:R528X|.	R|S	-|-	1|2	2|0	MCF2|MCF2	138515561|138515561	1.000000|1.000000	0.71417|0.71417	0.646000|0.646000	0.29493|0.29493	0.178000|0.178000	0.23041|0.23041	3.944000|3.944000	0.56629|0.56629	1.078000|1.078000	0.41014|0.41014	0.538000|0.538000	0.68166|0.68166	CGA|TCG		0.343	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369	
MCF2	4168	hgsc.bcm.edu	37	X	138698524	138698524	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:138698524G>T	ENST00000370576.4	-	9	1317	c.1108C>A	c.(1108-1110)Ctt>Att	p.L370I	MCF2_ENST00000414978.1_Missense_Mutation_p.L430I|MCF2_ENST00000338585.6_Missense_Mutation_p.L370I|MCF2_ENST00000519895.1_Missense_Mutation_p.L430I|MCF2_ENST00000370578.4_Missense_Mutation_p.L515I|MCF2_ENST00000483690.1_5'Flank|MCF2_ENST00000520602.1_Missense_Mutation_p.L430I|MCF2_ENST00000370573.4_Missense_Mutation_p.L370I|MCF2_ENST00000536274.1_Missense_Mutation_p.L331I	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	370					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L370I(1)|p.L430I(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GCCATTTCAAGAAAATTTTCA	0.343																																					p.L430I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1288A	X						.						45.0	43.0	44.0					X																	138698524		2203	4295	6498	138526190	SO:0001583	missense	4168	exon12				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1108C>A	X.37:g.138698524G>T	ENSP00000359608:p.Leu370Ile	Somatic		Capture	SOLID	Phase_I	138526190	NM_001099855	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149605	0.78001	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T	0.47177	1.08;0.97;0.85;1.04;1.08;1.13;1.02;1.02	5.84	4.97	0.65823	.	0.058629	0.64402	D	0.000001	T	0.66036	0.2749	M	0.75264	2.295	0.30333	N	0.786453	P;D;P;P;D;P;D;P	0.60575	0.756;0.972;0.842;0.756;0.969;0.756;0.988;0.947	P;P;P;P;P;P;D;P	0.64776	0.742;0.78;0.868;0.742;0.868;0.677;0.929;0.742	T	0.68534	-0.5383	10	0.44086	T	0.13	.	14.2761	0.66181	0.0:0.0:0.8504:0.1496	.	430;515;331;370;370;515;370;370	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	I	430;370;331;515;430;430;370;370	ENSP00000427745:L430I;ENSP00000359608:L370I;ENSP00000438155:L331I;ENSP00000359610:L515I;ENSP00000397055:L430I;ENSP00000430276:L430I;ENSP00000359605:L370I;ENSP00000342204:L370I	ENSP00000342204:L370I	L	-	1	0	MCF2	138526190	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.373000	0.79623	1.182000	0.42928	0.544000	0.68410	CTT		0.343	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369	
MCF2	4168	hgsc.bcm.edu	37	X	138708867	138708867	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:138708867G>T	ENST00000370576.4	-	5	696	c.487C>A	c.(487-489)Ctg>Atg	p.L163M	MCF2_ENST00000414978.1_Missense_Mutation_p.L223M|MCF2_ENST00000338585.6_Missense_Mutation_p.L163M|MCF2_ENST00000519895.1_Missense_Mutation_p.L223M|MCF2_ENST00000370578.4_Missense_Mutation_p.L308M|MCF2_ENST00000520602.1_Missense_Mutation_p.L223M|MCF2_ENST00000370573.4_Missense_Mutation_p.L163M|MCF2_ENST00000536274.1_Missense_Mutation_p.L124M	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	163					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L163M(3)|p.L223M(2)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GGCACTTCCAGATTTGTTAGC	0.383																																					p.L223M												.	.	5	Substitution - Missense(5)	lung(3)|large_intestine(2)	c.C667A	X						.						147.0	134.0	138.0					X																	138708867		2203	4300	6503	138536533	SO:0001583	missense	4168	exon8				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.487C>A	X.37:g.138708867G>T	ENSP00000359608:p.Leu163Met	Somatic		Capture	SOLID	Phase_I	138536533	NM_001099855	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	g	15.01	2.706682	0.48412	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	4.57	3.42	0.39159	.	0.308626	0.28895	N	0.013785	T	0.56630	0.1998	L	0.58810	1.83	0.29809	N	0.831758	P;D;P;P;P;P;D;P	0.76494	0.458;0.999;0.593;0.458;0.593;0.458;0.999;0.458	B;D;P;B;P;B;D;B	0.79108	0.313;0.976;0.511;0.313;0.511;0.313;0.992;0.313	T	0.54384	-0.8302	10	0.49607	T	0.09	.	3.9831	0.09503	0.2962:0.0:0.7038:0.0	.	223;308;124;163;163;308;163;163	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	M	223;163;124;308;223;223;163;163	ENSP00000427745:L223M;ENSP00000359608:L163M;ENSP00000438155:L124M;ENSP00000359610:L308M;ENSP00000397055:L223M;ENSP00000430276:L223M;ENSP00000359605:L163M;ENSP00000342204:L163M	ENSP00000342204:L163M	L	-	1	2	MCF2	138536533	1.000000	0.71417	0.997000	0.53966	0.909000	0.53808	2.839000	0.48207	1.991000	0.58162	0.597000	0.82753	CTG		0.383	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369	
SLITRK2	84631	hgsc.bcm.edu	37	X	144905527	144905527	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:144905527G>T	ENST00000370490.1	+	1	5839	c.1584G>T	c.(1582-1584)gaG>gaT	p.E528D	SLITRK2_ENST00000434188.2_Missense_Mutation_p.E528D|SLITRK2_ENST00000447897.2_Missense_Mutation_p.E528D|SLITRK2_ENST00000428560.2_Missense_Mutation_p.E528D|SLITRK2_ENST00000413937.2_Missense_Mutation_p.E528D			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	528					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.E528D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ATCTGCAGGAGAACCCCTGGG	0.507																																					p.E528D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1584T	X						.						71.0	69.0	70.0					X																	144905527		2203	4300	6503	144713219	SO:0001583	missense	84631	exon3			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1584G>T	X.37:g.144905527G>T	ENSP00000359521:p.Glu528Asp	Somatic		Capture	SOLID	Phase_I	144713219	NM_001144008	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.295398	0.23564	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76	5.84	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	N	0.20881	0.62	0.50313	D	0.999869	B	0.29115	0.233	B	0.29862	0.108	T	0.09100	-1.0690	10	0.07030	T	0.85	-10.0251	8.1365	0.31058	0.1527:0.0:0.8473:0.0	.	528	Q9H156	SLIK2_HUMAN	D	528	ENSP00000334374:E528D;ENSP00000411681:E528D;ENSP00000359521:E528D;ENSP00000397015:E528D;ENSP00000407347:E528D;ENSP00000412010:E528D	ENSP00000334374:E528D	E	+	3	2	SLITRK2	144713219	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.144000	0.50616	2.448000	0.82819	0.600000	0.82982	GAG		0.507	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539	
AFF2	2334	hgsc.bcm.edu	37	X	148055006	148055006	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:148055006G>A	ENST00000370460.2	+	16	3752	c.3273G>A	c.(3271-3273)gaG>gaA	p.E1091E	AFF2_ENST00000370457.5_Silent_p.E1056E|AFF2_ENST00000286437.5_Silent_p.E732E|AFF2_ENST00000342251.3_Silent_p.E1058E	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1091					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.E1091E(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)					TTCAGTTCGAGAAATTTGGCA	0.463																																					p.E732E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2196A	X						.						174.0	146.0	155.0					X																	148055006		2203	4300	6503	147862695	SO:0001819	synonymous_variant	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.3273G>A	X.37:g.148055006G>A		Somatic		Capture	SOLID	Phase_I	147862695	NM_001170628	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	CCDS14684.1																																																																																				0.463	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	
MAMLD1	10046	hgsc.bcm.edu	37	X	149671592	149671592	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:149671592G>A	ENST00000370401.2	+	6	2399	c.2089G>A	c.(2089-2091)Gtc>Atc	p.V697I	MAMLD1_ENST00000455522.2_Missense_Mutation_p.V137I|MAMLD1_ENST00000426613.2_Missense_Mutation_p.V672I|MAMLD1_ENST00000432680.2_Intron|MAMLD1_ENST00000262858.5_Missense_Mutation_p.V697I			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	697					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.V697I(1)|p.V624I(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GCACCCCCAGGTCAGCCTCGG	0.602																																					p.V672I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2014A	X						.						102.0	105.0	104.0					X																	149671592		2203	4300	6503	149422250	SO:0001583	missense	10046	exon4			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.2089G>A	X.37:g.149671592G>A	ENSP00000359428:p.Val697Ile	Somatic		Capture	SOLID	Phase_I	149422250	NM_001177466	B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631645	0.67015	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000262858;ENST00000426613;ENST00000455522	T;T;T;T	0.62105	0.05;0.05;0.05;0.51	3.55	3.55	0.40652	.	0.303746	0.22569	N	0.058374	T	0.71459	0.3342	L	0.57536	1.79	0.24444	N	0.994511	D;D;D	0.61697	0.986;0.99;0.99	P;D;D	0.73380	0.903;0.98;0.98	T	0.59695	-0.7406	10	0.40728	T	0.16	.	9.7056	0.40214	0.0:0.0:1.0:0.0	.	569;672;697	F6WVG1;Q13495-4;Q13495	.;.;MAMD1_HUMAN	I	569;697;697;672;137	ENSP00000359428:V697I;ENSP00000262858:V697I;ENSP00000397438:V672I;ENSP00000389106:V137I	ENSP00000262858:V697I	V	+	1	0	MAMLD1	149422250	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.654000	0.54453	2.036000	0.60181	0.529000	0.55759	GTC		0.602	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491	
MTMR1	8776	hgsc.bcm.edu	37	X	149898589	149898589	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:149898589G>A	ENST00000370390.3	+	6	697	c.540G>A	c.(538-540)agG>agA	p.R180R	MTMR1_ENST00000541925.1_Silent_p.R86R|MTMR1_ENST00000544228.1_Silent_p.R180R|MTMR1_ENST00000542156.1_Silent_p.R180R|MTMR1_ENST00000445323.2_Silent_p.R188R|MTMR1_ENST00000538506.1_Silent_p.R67R|MTMR1_ENST00000451863.2_Silent_p.R180R	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	180					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)	p.R180R(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGGATATGAGGAACTTGCGGC	0.353																																					p.R180R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G540A	X						.						124.0	112.0	116.0					X																	149898589		2203	4300	6503	149649247	SO:0001819	synonymous_variant	8776	exon6			U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.540G>A	X.37:g.149898589G>A		Somatic		Capture	SOLID	Phase_I	149649247	NM_003828	A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Silent	SNP	ENST00000370390.3	37	CCDS14695.1																																																																																				0.353	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789	
MAGEA5	4104	hgsc.bcm.edu	37	X	151283787	151283787	+	RNA	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:151283787C>T	ENST00000509345.2	-	0	549																		p.D76N(1)									AGAGTGAAATCGATGGCAGTG	0.612																																					p.D76N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G226A	X						.						79.0	75.0	77.0					X																	151283787		2203	4300	6503	151034443			4104	exon3																															X.37:g.151283787C>T		Somatic		Capture	SOLID	Phase_I	151034443	NM_021049		Missense_Mutation	SNP	ENST00000509345.2	37																																																																																					0.612	RP11-1007I13.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000445981.1		
GABRA3	2556	hgsc.bcm.edu	37	X	151376586	151376586	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:151376586G>T	ENST00000370314.4	-	7	903	c.665C>A	c.(664-666)tCt>tAt	p.S222Y	GABRA3_ENST00000535043.1_Missense_Mutation_p.S222Y	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	222					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.S222Y(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	GAGAGTCCAAGAATAAACCAC	0.433																																					p.S222Y	NSCLC(142;2578 2613 10251 16743)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C665A	X						.						148.0	120.0	129.0					X																	151376586		2203	4300	6503	151127242	SO:0001583	missense	2556	exon7				CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.665C>A	X.37:g.151376586G>T	ENSP00000359337:p.Ser222Tyr	Somatic		Capture	SOLID	Phase_I	151127242	NM_000808	Q8TAF9	Missense_Mutation	SNP	ENST00000370314.4	37	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125783	0.37533	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	T;T;T	0.79454	-1.27;-1.27;-1.27	5.38	5.38	0.77491	Neurotransmitter-gated ion-channel ligand-binding (3);	0.436751	0.26324	N	0.025023	T	0.55673	0.1935	N	0.01146	-0.985	0.33311	D	0.566046	P	0.50710	0.938	B	0.42959	0.403	T	0.73633	-0.3921	10	0.66056	D	0.02	.	15.4339	0.75129	0.0:0.0:1.0:0.0	.	222	P34903	GBRA3_HUMAN	Y	222	ENSP00000359337:S222Y;ENSP00000359334:S222Y;ENSP00000443527:S222Y	ENSP00000359334:S222Y	S	-	2	0	GABRA3	151127242	0.998000	0.40836	0.992000	0.48379	0.991000	0.79684	3.227000	0.51262	2.237000	0.73441	0.422000	0.28245	TCT		0.433	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808	
GABRQ	55879	hgsc.bcm.edu	37	X	151814044	151814044	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:151814044G>T	ENST00000370306.2	+	3	315	c.295G>T	c.(295-297)Gaa>Taa	p.E99*		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	99					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)	p.E99*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACAGATCTCAGAAATGAATAT	0.433																																					p.E99X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G295T	X						.						132.0	107.0	115.0					X																	151814044		2203	4300	6503	151564700	SO:0001587	stop_gained	55879	exon3			U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.295G>T	X.37:g.151814044G>T	ENSP00000359329:p.Glu99*	Somatic		Capture	SOLID	Phase_I	151564700	NM_018558	A6NFN1|Q32MB4|Q9NZK8	Nonsense_Mutation	SNP	ENST00000370306.2	37	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	g	21.6	4.174607	0.78452	.	.	ENSG00000147402	ENST00000370306	.	.	.	4.01	3.13	0.36017	.	0.142496	0.32769	N	0.005666	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.7303	0.46093	0.0:0.1908:0.8092:0.0	.	.	.	.	X	99	.	ENSP00000359329:E99X	E	+	1	0	GABRQ	151564700	1.000000	0.71417	0.930000	0.37139	0.534000	0.34807	6.238000	0.72350	1.016000	0.39470	0.509000	0.49947	GAA		0.433	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558	
MAGEA12	4111	hgsc.bcm.edu	37	X	151900289	151900289	+	Missense_Mutation	SNP	C	C	T	rs146806762		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:151900289C>T	ENST00000357916.4	-	2	667	c.512G>A	c.(511-513)cGc>cAc	p.R171H	CSAG1_ENST00000370287.3_5'Flank|MAGEA12_ENST00000393869.3_Missense_Mutation_p.R171H|CSAG1_ENST00000452779.2_5'Flank|MAGEA12_ENST00000393900.3_Missense_Mutation_p.R171H|CSAG1_ENST00000370291.2_5'Flank|CSAG4_ENST00000361201.4_RNA	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	171	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.R171H(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GTGGCCGATGCGGACCACTTC	0.542																																					p.R171H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G512A	X						.	C	HIS/ARG,HIS/ARG,HIS/ARG	1,3834		0,1,1631,571	160.0	149.0	153.0		512,512,512	-0.2	0.0	X	dbSNP_134	153	0,6728		0,0,2428,1872	no	missense,missense,missense	MAGEA12	NM_001166386.1,NM_001166387.1,NM_005367.5	29,29,29	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	benign,benign,benign	171/315,171/315,171/315	151900289	1,10562	2203	4300	6503	151650945	SO:0001583	missense	4111	exon3				CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.512G>A	X.37:g.151900289C>T	ENSP00000350592:p.Arg171His	Somatic		Capture	SOLID	Phase_I	151650945	NM_001166387	Q9NSD3	Missense_Mutation	SNP	ENST00000357916.4	37	CCDS14710.1	.	.	.	.	.	.	.	.	.	.	c	16.76	3.211015	0.58343	2.61E-4	0.0	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.04970	3.52;3.52;3.52	0.809	-0.197	0.13228	.	0.370527	0.30210	N	0.010156	T	0.05593	0.0147	N	0.20685	0.6	0.09310	N	1	P	0.38300	0.626	P	0.46026	0.501	T	0.28681	-1.0036	9	0.72032	D	0.01	.	.	.	.	.	171	P43365	MAGAC_HUMAN	H	171	ENSP00000350592:R171H;ENSP00000377447:R171H;ENSP00000377478:R171H	ENSP00000350592:R171H	R	-	2	0	MAGEA12	151650945	0.003000	0.15002	0.012000	0.15200	0.036000	0.12997	-0.229000	0.09098	-0.125000	0.11703	-1.142000	0.01873	CGC		0.542	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367	
G6PD	2539	hgsc.bcm.edu	37	X	153763388	153763388	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:153763388G>T	ENST00000393564.2	-	5	592	c.480C>A	c.(478-480)agC>agA	p.S160R	G6PD_ENST00000497281.1_5'UTR|G6PD_ENST00000393562.2_Missense_Mutation_p.S190R|G6PD_ENST00000369620.2_Missense_Mutation_p.S160R	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	160					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.S160R(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTACATCTGGCTCATGCAGG	0.657																																					p.S190R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C570A	X						.						140.0	110.0	120.0					X																	153763388		2203	4300	6503	153416582	SO:0001583	missense	2539	exon5			X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.480C>A	X.37:g.153763388G>T	ENSP00000377194:p.Ser160Arg	Somatic		Capture	SOLID	Phase_I	153416582	NM_000402	D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	CCDS44023.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318127	0.40996	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620;ENST00000439227;ENST00000440967;ENST00000433845	D;D;D;D;D;D	0.98234	-4.81;-4.81;-4.81;-4.81;-4.81;-4.81	5.35	1.41	0.22369	NAD(P)-binding domain (1);Glucose-6-phosphate dehydrogenase, NAD-binding (1);	0.000000	0.85682	D	0.000000	D	0.98507	0.9502	M	0.85542	2.76	0.58432	D	0.999997	D;D	0.71674	0.998;0.997	D;D	0.71870	0.975;0.969	D	0.97395	0.9992	10	0.72032	D	0.01	.	7.1281	0.25484	0.4228:0.0:0.5772:0.0	.	160;190	P11413;P11413-3	G6PD_HUMAN;.	R	190;160;160;160;160;160;160	ENSP00000377192:S190R;ENSP00000377194:S160R;ENSP00000358633:S160R;ENSP00000395599:S160R;ENSP00000400648:S160R;ENSP00000394690:S160R	ENSP00000291567:S160R	S	-	3	2	G6PD	153416582	1.000000	0.71417	0.979000	0.43373	0.119000	0.20118	1.903000	0.39858	-0.136000	0.11475	-1.187000	0.01702	AGC		0.657	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402	
F8	2157	hgsc.bcm.edu	37	X	154158387	154158387	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:154158387C>A	ENST00000360256.4	-	14	3878	c.3678G>T	c.(3676-3678)gaG>gaT	p.E1226D		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1226	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.E1226D(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAACTACATTCTCTTGGATTA	0.308																																					p.E1226D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3678T	X						.						43.0	37.0	39.0					X																	154158387		2202	4297	6499	153811581	SO:0001583	missense	2157	exon14			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3678G>T	X.37:g.154158387C>A	ENSP00000353393:p.Glu1226Asp	Somatic		Capture	SOLID	Phase_I	153811581	NM_000132	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	c	0.891	-0.725389	0.03158	.	.	ENSG00000185010	ENST00000360256	D	0.99376	-5.79	5.87	1.04	0.20106	.	0.942066	0.09029	N	0.858965	D	0.97074	0.9044	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	D	0.92073	0.5666	10	0.41790	T	0.15	-1.6582	3.2906	0.06948	0.238:0.5024:0.1134:0.1462	.	1226	P00451	FA8_HUMAN	D	1226	ENSP00000353393:E1226D	ENSP00000353393:E1226D	E	-	3	2	F8	153811581	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.417000	0.02464	-0.514000	0.06488	-0.929000	0.02709	GAG		0.308	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
F8	2157	hgsc.bcm.edu	37	X	154159624	154159624	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:154159624C>T	ENST00000360256.4	-	14	2641	c.2441G>A	c.(2440-2442)cGa>cAa	p.R814Q		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	814	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.R814Q(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGGACTCTGTCGCAAGAGCAT	0.418													C|||	1	0.000264901	0.0	0.0	3775	,	,		15261	0.0		0.001	False		,,,				2504	0.0				p.R814Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2441A	X						.						211.0	193.0	199.0					X																	154159624		2203	4299	6502	153812818	SO:0001583	missense	2157	exon14			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.2441G>A	X.37:g.154159624C>T	ENSP00000353393:p.Arg814Gln	Somatic		Capture	SOLID	Phase_I	153812818	NM_000132	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	0.979	-0.697752	0.03279	.	.	ENSG00000185010	ENST00000360256	D	0.99051	-5.37	5.37	-0.091	0.13662	.	1.373530	0.04059	N	0.306041	D	0.95198	0.8443	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.04013	0.001	D	0.91916	0.5543	10	0.13108	T	0.6	-0.8004	9.7107	0.40243	0.0:0.5404:0.0:0.4596	.	814	P00451	FA8_HUMAN	Q	814	ENSP00000353393:R814Q	ENSP00000353393:R814Q	R	-	2	0	F8	153812818	0.310000	0.24527	0.801000	0.32222	0.009000	0.06853	0.027000	0.13621	-0.084000	0.12595	-1.050000	0.02344	CGA		0.418	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
SCML1	6322	hgsc.bcm.edu	37	X	17768363	17768363	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:17768363G>A	ENST00000380041.3	+	6	981	c.653G>A	c.(652-654)aGc>aAc	p.S218N	SCML1_ENST00000398080.1_Missense_Mutation_p.S97N|SCML1_ENST00000380045.3_Missense_Mutation_p.S97N|SCML1_ENST00000380043.3_Missense_Mutation_p.S191N	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	218					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S218N(1)|p.S97N(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					CGGGCTGACAGCATCCACAAC	0.512																																					p.S191N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G572A	X						.						111.0	84.0	93.0					X																	17768363		2203	4300	6503	17678284	SO:0001583	missense	6322	exon5				CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"""Sterile alpha motif (SAM) domain containing"""	10580	protein-coding gene	gene with protein product		300227	"""sex comb on midleg (Drosophila)-like 1"""			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.653G>A	X.37:g.17768363G>A	ENSP00000369380:p.Ser218Asn	Somatic		Capture	SOLID	Phase_I	17678284	NM_006746	B0FZN6|B2RA08|Q5H968|Q5H969	Missense_Mutation	SNP	ENST00000380041.3	37	CCDS35210.1	.	.	.	.	.	.	.	.	.	.	G	9.093	1.002181	0.19121	.	.	ENSG00000047634	ENST00000380045;ENST00000380041;ENST00000380043;ENST00000398080	.	.	.	3.51	-1.42	0.08913	.	0.650537	0.14403	N	0.321797	T	0.26521	0.0648	L	0.29908	0.895	0.09310	N	1	B;B	0.30146	0.27;0.176	B;B	0.29524	0.103;0.048	T	0.12578	-1.0542	9	0.51188	T	0.08	-9.9981	7.5244	0.27647	0.6207:0.0:0.3793:0.0	.	191;218	Q9UN30-2;Q9UN30	.;SCML1_HUMAN	N	97;218;191;97	.	ENSP00000369380:S218N	S	+	2	0	SCML1	17678284	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.228000	0.09114	-0.527000	0.06374	-0.191000	0.12829	AGC		0.512	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060495.5	NM_006746	
SCML2	10389	hgsc.bcm.edu	37	X	18260565	18260565	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:18260565C>T	ENST00000251900.4	-	14	2127	c.1968G>A	c.(1966-1968)agG>agA	p.R656R	SCML2_ENST00000491988.1_5'Flank|SCML2_ENST00000398048.3_Intron	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	656	SAM.				anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R656R(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TTACATGTTGCCTGAAGAGGT	0.488																																					p.R656R	Esophageal Squamous(100;1252 1965 19021 35517)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1968A	X						.						97.0	84.0	88.0					X																	18260565		2203	4300	6503	18170486	SO:0001819	synonymous_variant	10389	exon14			Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.1968G>A	X.37:g.18260565C>T		Somatic		Capture	SOLID	Phase_I	18170486	NM_006089	Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Silent	SNP	ENST00000251900.4	37	CCDS14185.1																																																																																				0.488	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089	
GPR64	10149	hgsc.bcm.edu	37	X	19017218	19017218	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:19017218C>T	ENST00000379869.3	-	26	2673	c.2510G>A	c.(2509-2511)gGc>gAc	p.G837D	GPR64_ENST00000379873.2_Missense_Mutation_p.G837D|GPR64_ENST00000379876.1_Missense_Mutation_p.G813D|GPR64_ENST00000357544.3_Missense_Mutation_p.G807D|GPR64_ENST00000356606.4_Missense_Mutation_p.G823D|GPR64_ENST00000379878.3_Missense_Mutation_p.G821D|GPR64_ENST00000360279.4_Missense_Mutation_p.G815D|GPR64_ENST00000354791.3_Missense_Mutation_p.G821D|GPR64_ENST00000340581.3_Missense_Mutation_p.G718D|GPR64_ENST00000357991.3_Missense_Mutation_p.G834D	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	837					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.G834D(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AAATGTAAGGCCAGCGATACT	0.443																																					p.G821D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2462A	X						.						155.0	147.0	150.0					X																	19017218		2203	4300	6503	18927139	SO:0001583	missense	10149	exon25			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.2510G>A	X.37:g.19017218C>T	ENSP00000369198:p.Gly837Asp	Somatic		Capture	SOLID	Phase_I	18927139	NM_001184833	B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913281	0.92178	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23	5.88	5.88	0.94601	GPCR, family 2-like (1);	0.000000	0.56097	D	0.000029	T	0.67785	0.2930	M	0.86805	2.84	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	0.996;0.998;1.0;0.999;0.999;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	0.977;0.976;1.0;0.99;0.99;1.0;1.0;1.0;1.0;0.99;1.0	T	0.73007	-0.4118	10	0.72032	D	0.01	.	19.1599	0.93526	0.0:1.0:0.0:0.0	.	718;799;807;813;821;837;815;823;834;837;821	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	D	837;821;821;813;807;837;815;834;823;718	ENSP00000369202:G837D;ENSP00000369207:G821D;ENSP00000346845:G821D;ENSP00000369205:G813D;ENSP00000350152:G807D;ENSP00000369198:G837D;ENSP00000353421:G815D;ENSP00000350680:G834D;ENSP00000349015:G823D;ENSP00000344972:G718D	ENSP00000344972:G718D	G	-	2	0	GPR64	18927139	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.407000	0.80029	2.475000	0.83589	0.594000	0.82650	GGC		0.443	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2		
GPR64	10149	hgsc.bcm.edu	37	X	19017287	19017287	+	Missense_Mutation	SNP	C	C	T	rs184370776		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:19017287C>T	ENST00000379869.3	-	26	2604	c.2441G>A	c.(2440-2442)cGa>cAa	p.R814Q	GPR64_ENST00000379873.2_Missense_Mutation_p.R814Q|GPR64_ENST00000379876.1_Missense_Mutation_p.R790Q|GPR64_ENST00000357544.3_Missense_Mutation_p.R784Q|GPR64_ENST00000356606.4_Missense_Mutation_p.R800Q|GPR64_ENST00000379878.3_Missense_Mutation_p.R798Q|GPR64_ENST00000360279.4_Missense_Mutation_p.R792Q|GPR64_ENST00000354791.3_Missense_Mutation_p.R798Q|GPR64_ENST00000340581.3_Missense_Mutation_p.R695Q|GPR64_ENST00000357991.3_Missense_Mutation_p.R811Q	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	814					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.R811Q(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CTTTTTAATTCGACAGAGCTG	0.433													C|||	3	0.000794702	0.0	0.0	3775	,	,		13143	0.002		0.0	False		,,,				2504	0.001				p.R798Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2393A	X						.	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,3835		0,0,0,1632,571	137.0	134.0	135.0		2441,2399,2375,2393,2441,2327,2369,2351,2432	5.9	1.0	X		135	2,6726		0,1,1,2427,1871	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	GPR64	NM_001079858.2,NM_001079859.2,NM_001079860.2,NM_001184833.1,NM_001184834.1,NM_001184835.1,NM_001184836.1,NM_001184837.1,NM_005756.3	43,43,43,43,43,43,43,43,43	0,1,1,4059,2442	TT,TC,T,CC,C		0.0297,0.0,0.0189	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	814/1018,800/1004,792/996,798/1002,814/967,776/980,790/994,784/988,811/1015	19017287	2,10561	2203	4300	6503	18927208	SO:0001583	missense	10149	exon25			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.2441G>A	X.37:g.19017287C>T	ENSP00000369198:p.Arg814Gln	Somatic		Capture	SOLID	Phase_I	18927208	NM_001184833	B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	CCDS43923.1	2	0.0012055455093429777	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	35	5.428958	0.96131	0.0	2.97E-4	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.88	5.88	0.94601	GPCR, family 2-like (1);	0.000000	0.45126	D	0.000381	T	0.61664	0.2365	L	0.52266	1.64	0.80722	D	1	P;P;D;P;P;D;D;D;D;P;D	0.89917	0.67;0.931;1.0;0.936;0.936;1.0;1.0;1.0;1.0;0.948;1.0	B;B;D;P;P;D;D;D;D;P;D	0.97110	0.258;0.324;0.999;0.45;0.45;0.999;1.0;0.999;0.999;0.586;1.0	T	0.60301	-0.7290	10	0.52906	T	0.07	.	19.1599	0.93526	0.0:1.0:0.0:0.0	.	695;776;784;790;798;814;792;800;811;814;798	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	Q	814;798;798;790;784;814;792;811;800;695	ENSP00000369202:R814Q;ENSP00000369207:R798Q;ENSP00000346845:R798Q;ENSP00000369205:R790Q;ENSP00000350152:R784Q;ENSP00000369198:R814Q;ENSP00000353421:R792Q;ENSP00000350680:R811Q;ENSP00000349015:R800Q;ENSP00000344972:R695Q	ENSP00000344972:R695Q	R	-	2	0	GPR64	18927208	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.407000	0.80029	2.475000	0.83589	0.594000	0.82650	CGA		0.433	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2		
PTCHD1	139411	hgsc.bcm.edu	37	X	23411020	23411020	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:23411020C>T	ENST00000379361.4	+	3	2245	c.1385C>T	c.(1384-1386)aCg>aTg	p.T462M		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	462					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)	p.T357M(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TTTCTCCTGACGGCCAGATTC	0.473																																					p.T462M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1385T	X						.						98.0	100.0	99.0					X																	23411020		2203	4300	6503	23320941	SO:0001583	missense	139411	exon3			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.1385C>T	X.37:g.23411020C>T	ENSP00000368666:p.Thr462Met	Somatic		Capture	SOLID	Phase_I	23320941	NM_173495	B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	C	14.43	2.531992	0.45073	.	.	ENSG00000165186	ENST00000379361	D	0.89343	-2.5	5.82	5.82	0.92795	.	0.189377	0.47852	D	0.000206	D	0.84388	0.5461	L	0.29908	0.895	0.30870	N	0.73259	P	0.46987	0.888	B	0.44108	0.441	D	0.83520	0.0085	10	0.30854	T	0.27	.	14.5993	0.68429	0.0:0.8585:0.1415:0.0	.	462	Q96NR3	PTHD1_HUMAN	M	462	ENSP00000368666:T462M	ENSP00000368666:T462M	T	+	2	0	PTCHD1	23320941	1.000000	0.71417	0.991000	0.47740	0.896000	0.52359	7.378000	0.79679	2.450000	0.82876	0.600000	0.82982	ACG		0.473	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495	
CXorf58	254158	hgsc.bcm.edu	37	X	23953327	23953327	+	Silent	SNP	C	C	T	rs375231563		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:23953327C>T	ENST00000379211.3	+	7	1119	c.570C>T	c.(568-570)ttC>ttT	p.F190F		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	190								p.F190F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						GCAGTTTTTTCGATGAGGCCC	0.443																																					p.F190F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C570T	X						.		,	1,3834		0,1,1631,571	102.0	107.0	105.0		570,570	-0.3	0.0	X		105	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous	CXorf58	NM_001169574.1,NM_152761.2	,	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	,	190/331,190/333	23953327	1,10562	2203	4300	6503	23863248	SO:0001819	synonymous_variant	254158	exon7			AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.570C>T	X.37:g.23953327C>T		Somatic		Capture	SOLID	Phase_I	23863248	NM_152761		Silent	SNP	ENST00000379211.3	37	CCDS14209.1																																																																																				0.443	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056071.1	NM_152761	
KLHL15	80311	hgsc.bcm.edu	37	X	24006567	24006567	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:24006567A>C	ENST00000328046.8	-	4	1541	c.1286T>G	c.(1285-1287)tTt>tGt	p.F429C		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	429					protein ubiquitination (GO:0016567)			p.F429C(1)		autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						ACCGGTGATAAACAATTTGTT	0.443																																					p.F429C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1286G	X						.						167.0	137.0	147.0					X																	24006567		2203	4300	6503	23916488	SO:0001583	missense	80311	exon4			AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.1286T>G	X.37:g.24006567A>C	ENSP00000332791:p.Phe429Cys	Somatic		Capture	SOLID	Phase_I	23916488	NM_030624	Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Missense_Mutation	SNP	ENST00000328046.8	37	CCDS35217.1	.	.	.	.	.	.	.	.	.	.	A	12.68	2.009199	0.35415	.	.	ENSG00000174010	ENST00000328046	T	0.68479	-0.33	5.49	2.88	0.33553	Kelch-type beta propeller (1);	0.114465	0.64402	D	0.000010	T	0.60025	0.2237	M	0.67397	2.05	0.37279	D	0.907764	P	0.35208	0.49	B	0.31016	0.123	T	0.66131	-0.6000	10	0.87932	D	0	.	9.555	0.39332	0.5862:0.0:0.0:0.4138	.	429	Q96M94	KLH15_HUMAN	C	429	ENSP00000332791:F429C	ENSP00000332791:F429C	F	-	2	0	KLHL15	23916488	1.000000	0.71417	0.995000	0.50966	0.969000	0.65631	3.844000	0.55873	0.779000	0.33543	0.412000	0.27726	TTT		0.443	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1	XM_040383	
DCAF8L1	139425	hgsc.bcm.edu	37	X	27999214	27999214	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:27999214C>T	ENST00000441525.1	-	1	352	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	80	Glu-rich.							p.E80K(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CTTTCAAGTTCGACGTCTTCA	0.488																																					p.E80K												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G238A	X						.						184.0	137.0	153.0					X																	27999214		2202	4300	6502	27909135	SO:0001583	missense	139425	exon1				CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.238G>A	X.37:g.27999214C>T	ENSP00000405222:p.Glu80Lys	Somatic		Capture	SOLID	Phase_I	27909135	NM_001017930	B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	C	9.578	1.122775	0.20959	.	.	ENSG00000226372	ENST00000441525	T	0.64618	-0.11	0.842	-0.121	0.13535	.	0.263794	0.34828	N	0.003650	T	0.48333	0.1494	L	0.51422	1.61	0.18873	N	0.999982	B	0.06786	0.001	B	0.06405	0.002	T	0.38779	-0.9645	10	0.51188	T	0.08	-2.4061	5.1456	0.14983	0.0:0.7539:0.0:0.2461	.	80	A6NGE4	DC8L1_HUMAN	K	80	ENSP00000405222:E80K	ENSP00000405222:E80K	E	-	1	0	DCAF8L1	27909135	0.940000	0.31905	0.001000	0.08648	0.006000	0.05464	1.827000	0.39102	-0.108000	0.12066	-0.761000	0.03458	GAA		0.488	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690	
MAGEB3	4114	hgsc.bcm.edu	37	X	30254425	30254425	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:30254425G>A	ENST00000361644.2	+	5	1121	c.384G>A	c.(382-384)atG>atA	p.M128I		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	128	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.M128I(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						TGTACAAGATGAAAAAGCCCA	0.408																																					p.M128I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G384A	X						.						82.0	75.0	77.0					X																	30254425		2202	4300	6502	30164346	SO:0001583	missense	4114	exon5			AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.384G>A	X.37:g.30254425G>A	ENSP00000355198:p.Met128Ile	Somatic		Capture	SOLID	Phase_I	30164346	NM_002365	A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	ENST00000361644.2	37	CCDS14220.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561573	0.27915	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.04917	3.53;3.53	4.1	1.31	0.21738	.	0.281842	0.30219	U	0.010139	T	0.09686	0.0238	M	0.78344	2.41	0.09310	N	1	B	0.27380	0.177	B	0.35899	0.213	T	0.26430	-1.0103	10	0.62326	D	0.03	.	2.7387	0.05247	0.2494:0.0:0.5236:0.227	.	128	O15480	MAGB3_HUMAN	I	128	ENSP00000368271:M128I;ENSP00000355198:M128I	ENSP00000355198:M128I	M	+	3	0	MAGEB3	30164346	0.071000	0.21146	0.050000	0.19076	0.027000	0.11550	0.296000	0.19083	0.134000	0.18681	0.600000	0.82982	ATG		0.408	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056158.2	NM_002365	
MAGEB3	4114	hgsc.bcm.edu	37	X	30254479	30254479	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:30254479G>T	ENST00000361644.2	+	5	1175	c.438G>T	c.(436-438)aaG>aaT	p.K146N		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	146	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.K146N(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AAAGCCATAAGAATTGCTTCC	0.363																																					p.K146N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G438T	X						.						94.0	88.0	90.0					X																	30254479		2202	4299	6501	30164400	SO:0001583	missense	4114	exon5			AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.438G>T	X.37:g.30254479G>T	ENSP00000355198:p.Lys146Asn	Somatic		Capture	SOLID	Phase_I	30164400	NM_002365	A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	ENST00000361644.2	37	CCDS14220.1	.	.	.	.	.	.	.	.	.	.	G	9.726	1.160880	0.21538	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.05996	3.36;3.36	4.1	-1.57	0.08506	.	0.438122	0.22367	U	0.060986	T	0.10937	0.0267	M	0.84082	2.675	0.09310	N	1	B	0.20780	0.048	B	0.29785	0.107	T	0.23297	-1.0192	10	0.87932	D	0	.	9.1399	0.36897	0.7914:0.0:0.2086:0.0	.	146	O15480	MAGB3_HUMAN	N	146	ENSP00000368271:K146N;ENSP00000355198:K146N	ENSP00000355198:K146N	K	+	3	2	MAGEB3	30164400	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.019000	0.13444	-0.503000	0.06586	-0.190000	0.12839	AAG		0.363	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056158.2	NM_002365	
MAGEB1	4112	hgsc.bcm.edu	37	X	30269211	30269211	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:30269211C>T	ENST00000378981.3	+	4	922	c.601C>T	c.(601-603)Ctg>Ttg	p.L201L	MAGEB1_ENST00000397550.1_Silent_p.L201L|MAGEB1_ENST00000397548.2_Silent_p.L201L	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	201	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.L201L(1)		NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						GAATGGGCTTCTGATGCCTCT	0.498																																					p.L201L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C601T	X						.						88.0	66.0	73.0					X																	30269211		2202	4300	6502	30179132	SO:0001819	synonymous_variant	4112	exon4				CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.601C>T	X.37:g.30269211C>T		Somatic		Capture	SOLID	Phase_I	30179132	NM_002363	B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Silent	SNP	ENST00000378981.3	37	CCDS14222.1																																																																																				0.498	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363	
GK	2710	hgsc.bcm.edu	37	X	30739085	30739085	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:30739085C>T	ENST00000378943.3	+	17	1635	c.1456C>T	c.(1456-1458)Cgg>Tgg	p.R486W	RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000378946.3_Missense_Mutation_p.R492W|GK_ENST00000427190.1_Missense_Mutation_p.R287W|GK_ENST00000378945.3_Missense_Mutation_p.R486W|GK-AS1_ENST00000464659.1_RNA	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	492					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)	p.R492W(1)		central_nervous_system(1)|large_intestine(3)	4						CACGATGGAGCGGTTTGAACC	0.502																																					p.R492W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1474T	X						.						52.0	43.0	46.0					X																	30739085		2202	4300	6502	30649006	SO:0001583	missense	2710	exon18			X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"""Glycerol kinases"""	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378943.3:c.1456C>T	X.37:g.30739085C>T	ENSP00000368226:p.Arg486Trp	Somatic		Capture	SOLID	Phase_I	30649006	NM_203391	A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Missense_Mutation	SNP	ENST00000378943.3	37	CCDS48090.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969803	0.53614	.	.	ENSG00000198814	ENST00000378946;ENST00000378943;ENST00000534212;ENST00000378945;ENST00000427190;ENST00000451432;ENST00000378938	D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7	5.49	4.61	0.57282	.	0.053023	0.85682	D	0.000000	D	0.87573	0.6211	L	0.60904	1.88	0.53688	D	0.999979	B;B;B;B;B	0.14012	0.009;0.007;0.005;0.005;0.007	B;B;B;B;B	0.11329	0.006;0.002;0.005;0.005;0.002	D	0.83896	0.0287	10	0.87932	D	0	.	8.9942	0.36041	0.1582:0.7632:0.0:0.0785	.	329;492;486;486;492	E7EQC0;P32189;P32189-2;P32189-1;A6NJP5	.;GLPK_HUMAN;.;.;.	W	492;486;492;486;287;329;81	ENSP00000368229:R492W;ENSP00000368226:R486W;ENSP00000368228:R486W;ENSP00000401720:R287W;ENSP00000368221:R81W	ENSP00000368221:R81W	R	+	1	2	GK	30649006	1.000000	0.71417	0.996000	0.52242	0.916000	0.54674	3.944000	0.56629	1.138000	0.42230	0.600000	0.82982	CGG		0.502	GK-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056170.1	NM_000167	
BCOR	54880	hgsc.bcm.edu	37	X	39930915	39930915	+	Nonsense_Mutation	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:39930915A>C	ENST00000378444.4	-	5	3254	c.3026T>G	c.(3025-3027)tTa>tGa	p.L1009*	BCOR_ENST00000342274.4_Nonsense_Mutation_p.L1009*|BCOR_ENST00000397354.3_Nonsense_Mutation_p.L1009*|BCOR_ENST00000378455.4_Intron	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1009					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.L1009*(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGGTAGACATAAAATACTGTC	0.299			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																														p.L1009X			Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T3026G	X						.						86.0	82.0	83.0					X																	39930915		2202	4297	6499	39815859	SO:0001587	stop_gained	54880	exon5			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3026T>G	X.37:g.39930915A>C	ENSP00000367705:p.Leu1009*	Somatic		Capture	SOLID	Phase_I	39815859	NM_001123383	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Nonsense_Mutation	SNP	ENST00000378444.4	37	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	A	41	9.127496	0.99075	.	.	ENSG00000183337	ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6671	15.4001	0.74834	1.0:0.0:0.0:0.0	.	.	.	.	X	1009	.	ENSP00000345923:L1009X	L	-	2	0	BCOR	39815859	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.692000	0.91284	2.088000	0.63022	0.486000	0.48141	TTA		0.299	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745	
SYN1	6853	hgsc.bcm.edu	37	X	47435900	47435900	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:47435900T>C	ENST00000295987.7	-	7	1101	c.977A>G	c.(976-978)tAc>tGc	p.Y326C	SYN1_ENST00000340666.4_Missense_Mutation_p.Y326C	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	326	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of neurotransmitter secretion (GO:0046928)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)	p.Y326C(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						CACTCACATGTAGGCCTTGTA	0.582																																					p.Y326C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A977G	X						.						156.0	121.0	133.0					X																	47435900		2203	4300	6503	47320844	SO:0001583	missense	6853	exon7				CCDS14280.1, CCDS35233.1	Xp11.2	2012-10-02			ENSG00000008056	ENSG00000008056			11494	protein-coding gene	gene with protein product		313440					Standard	NM_133499		Approved		uc004die.3	P17600	OTTHUMG00000021454	ENST00000295987.7:c.977A>G	X.37:g.47435900T>C	ENSP00000295987:p.Tyr326Cys	Somatic		Capture	SOLID	Phase_I	47320844	NM_133499	B1AJQ1|O75825|Q5H9A9	Missense_Mutation	SNP	ENST00000295987.7	37	CCDS14280.1	.	.	.	.	.	.	.	.	.	.	t	18.57	3.651768	0.67472	.	.	ENSG00000008056	ENST00000295987;ENST00000340666	T;T	0.51071	1.22;0.72	4.05	4.05	0.47172	ATP-grasp fold, subdomain 2 (1);Synapsin, ATP-binding domain (1);	0.000000	0.64402	D	0.000012	T	0.72070	0.3415	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.77319	-0.2632	10	0.87932	D	0	.	10.117	0.42596	0.0:0.0:0.0:1.0	.	326;326	P17600;P17600-2	SYN1_HUMAN;.	C	326	ENSP00000295987:Y326C;ENSP00000343206:Y326C	ENSP00000295987:Y326C	Y	-	2	0	SYN1	47320844	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.454000	0.80714	1.504000	0.48704	0.427000	0.28365	TAC		0.582	SYN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056445.1	NM_006950	
ZNF182	7569	hgsc.bcm.edu	37	X	47842710	47842710	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:47842710C>A	ENST00000396965.1	-	5	524	c.174G>T	c.(172-174)gaG>gaT	p.E58D	ZNF182_ENST00000305127.6_Missense_Mutation_p.E58D|ZNF182_ENST00000376943.3_Missense_Mutation_p.E39D	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	58	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E58D(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TGCTGTAGGTCTCCAGCATCA	0.458																																					p.E58D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G174T	X						.						133.0	112.0	119.0					X																	47842710		2203	4300	6503	47727654	SO:0001583	missense	7569	exon5			AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.174G>T	X.37:g.47842710C>A	ENSP00000380165:p.Glu58Asp	Somatic		Capture	SOLID	Phase_I	47727654	NM_006962	A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	c	18.99	3.739759	0.69304	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.03920	3.76;3.76;3.76	3.96	3.09	0.35607	Krueppel-associated box (4);	.	.	.	.	T	0.15955	0.0384	M	0.62088	1.915	0.24240	N	0.99537	D;D;D	0.69078	0.997;0.96;0.997	D;P;D	0.76071	0.953;0.817;0.987	T	0.03545	-1.1026	9	0.62326	D	0.03	.	8.6551	0.34058	0.0:0.8814:0.0:0.1186	.	39;39;58	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	D	39;58;58	ENSP00000366142:E39D;ENSP00000380165:E58D;ENSP00000306351:E58D	ENSP00000306351:E58D	E	-	3	2	ZNF182	47727654	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.095000	0.41729	1.013000	0.39391	0.597000	0.82753	GAG		0.458	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962	
ZNF630	57232	hgsc.bcm.edu	37	X	47919228	47919228	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:47919228C>A	ENST00000409324.3	-	5	829	c.603G>T	c.(601-603)aaG>aaT	p.K201N	ZNF630_ENST00000276054.4_Missense_Mutation_p.K77N|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Missense_Mutation_p.K187N	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	201					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.K201N(1)		endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TAGTGGGGTTCTTTCTTGCAT	0.383																																					p.K187N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G561T	X						.						55.0	48.0	50.0					X																	47919228		2192	4290	6482	47804172	SO:0001583	missense	57232	exon5			AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.603G>T	X.37:g.47919228C>A	ENSP00000386393:p.Lys201Asn	Somatic		Capture	SOLID	Phase_I	47804172	NM_001190255	F8WAG4|Q5H8Z5	Missense_Mutation	SNP	ENST00000409324.3	37	CCDS35237.2	.	.	.	.	.	.	.	.	.	.	.	14.70	2.613796	0.46631	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324;ENST00000428686	T;T;T;T	0.09350	3.08;2.99;3.14;5.17	2.65	1.63	0.23807	.	.	.	.	.	T	0.08268	0.0206	L	0.34521	1.04	0.09310	N	1	B	0.29432	0.244	B	0.24006	0.05	T	0.26677	-1.0096	9	0.72032	D	0.01	.	7.7343	0.28804	0.2477:0.7523:0.0:0.0	.	201	Q2M218	ZN630_HUMAN	N	187;77;201;201	ENSP00000393163:K187N;ENSP00000354683:K77N;ENSP00000386393:K201N;ENSP00000407278:K201N	ENSP00000354683:K77N	K	-	3	2	ZNF630	47804172	0.013000	0.17824	0.001000	0.08648	0.042000	0.13812	0.360000	0.20250	1.343000	0.45638	0.544000	0.68410	AAG		0.383	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735	
KDM5C	8242	hgsc.bcm.edu	37	X	53222253	53222253	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:53222253C>T	ENST00000375401.3	-	26	5111	c.4579G>A	c.(4579-4581)Gaa>Aaa	p.E1527K	KDM5C_ENST00000375383.3_Missense_Mutation_p.E1483K|KDM5C_ENST00000375379.3_Missense_Mutation_p.E1524K|KDM5C_ENST00000452825.3_Intron|KDM5C_ENST00000404049.3_Missense_Mutation_p.E1526K	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1527					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.E1527K(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						TCCGCCGGTTCCAAGCCATTC	0.667			"""N, F, S"""		clear cell renal carcinoma																																p.E1527K			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4579A	X						.						34.0	27.0	29.0					X																	53222253		2201	4291	6492	53238978	SO:0001583	missense	8242	exon26			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.4579G>A	X.37:g.53222253C>T	ENSP00000364550:p.Glu1527Lys	Somatic		Capture	SOLID	Phase_I	53238978	NM_004187	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	c	13.31	2.198436	0.38806	.	.	ENSG00000126012	ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D	0.85013	-1.79;-1.79;-1.79;-1.93	4.39	1.59	0.23543	.	0.482695	0.15217	U	0.274170	T	0.72104	0.3419	L	0.29908	0.895	0.09310	N	0.999998	B;B	0.20261	0.043;0.043	B;B	0.14578	0.011;0.011	T	0.54576	-0.8273	10	0.21540	T	0.41	-4.9032	5.6656	0.17693	0.0:0.6297:0.0:0.3703	.	1526;1527	B0QZ44;P41229	.;KDM5C_HUMAN	K	1527;1526;1524;1483	ENSP00000364550:E1527K;ENSP00000385394:E1526K;ENSP00000364528:E1524K;ENSP00000364532:E1483K	ENSP00000364528:E1524K	E	-	1	0	KDM5C	53238978	1.000000	0.71417	0.963000	0.40424	0.775000	0.43874	2.676000	0.46883	0.204000	0.20548	0.407000	0.27541	GAA		0.667	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187	
KDM5C	8242	hgsc.bcm.edu	37	X	53223862	53223862	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:53223862C>T	ENST00000375401.3	-	23	4029	c.3497G>A	c.(3496-3498)cGc>cAc	p.R1166H	KDM5C_ENST00000375383.3_Missense_Mutation_p.R1125H|KDM5C_ENST00000375379.3_Missense_Mutation_p.R1166H|KDM5C_ENST00000452825.3_Missense_Mutation_p.R1099H|KDM5C_ENST00000404049.3_Missense_Mutation_p.R1165H	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1166					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.R1166H(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						CGAATTGGTGCGACGCAGCTG	0.607			"""N, F, S"""		clear cell renal carcinoma																																p.R1166H			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3497A	X						.						250.0	179.0	203.0					X																	53223862		2203	4300	6503	53240587	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.3497G>A	X.37:g.53223862C>T	ENSP00000364550:p.Arg1166His	Somatic		Capture	SOLID	Phase_I	53240587	NM_004187	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	c	10.17	1.277494	0.23307	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D;D	0.86297	-2.1;-1.8;-1.8;-1.81;-1.94	4.61	4.61	0.57282	.	0.324932	0.34555	N	0.003874	T	0.78065	0.4225	L	0.31664	0.95	0.30925	N	0.727552	B;B;B	0.17667	0.013;0.023;0.014	B;B;B	0.10450	0.005;0.003;0.003	T	0.71066	-0.4700	10	0.21540	T	0.41	-7.2383	10.1831	0.42980	0.0:0.8017:0.1983:0.0	.	1099;1165;1166	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	H	1099;1166;1165;1166;1125	ENSP00000445176:R1099H;ENSP00000364550:R1166H;ENSP00000385394:R1165H;ENSP00000364528:R1166H;ENSP00000364532:R1125H	ENSP00000364528:R1166H	R	-	2	0	KDM5C	53240587	0.058000	0.20735	1.000000	0.80357	0.978000	0.69477	0.155000	0.16362	1.893000	0.54813	0.525000	0.51046	CGC		0.607	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187	
HUWE1	10075	hgsc.bcm.edu	37	X	53581681	53581681	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:53581681G>A	ENST00000342160.3	-	60	8864	c.8407C>T	c.(8407-8409)Cct>Tct	p.P2803S	MIRLET7F2_ENST00000385277.1_RNA|HUWE1_ENST00000262854.6_Missense_Mutation_p.P2803S|MIR98_ENST00000606724.1_RNA			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2803					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.P2681S(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGCTCTACAGGCATCAATAGC	0.532																																					p.P2803S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8407T	X						.						98.0	83.0	88.0					X																	53581681		2203	4300	6503	53598406	SO:0001583	missense	10075	exon61			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.8407C>T	X.37:g.53581681G>A	ENSP00000340648:p.Pro2803Ser	Somatic		Capture	SOLID	Phase_I	53598406	NM_031407	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.34|16.34	3.094494|3.094494	0.56075|0.56075	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854	.|T;T	.|0.32988	.|1.43;1.43	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.534882	.|0.18508	.|N	.|0.139155	T|T	0.22399|0.22399	0.0540|0.0540	N|N	0.19112|0.19112	0.55|0.55	0.46028|0.46028	D|D	0.998821|0.998821	.|B;B	.|0.19331	.|0.02;0.035	.|B;B	.|0.15484	.|0.006;0.013	T|T	0.08126|0.08126	-1.0737|-1.0737	5|10	.|0.15066	.|T	.|0.55	.|.	17.7627|17.7627	0.88469|0.88469	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2803;2803	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	V|S	1836|2803	.|ENSP00000340648:P2803S;ENSP00000262854:P2803S	.|ENSP00000262854:P2803S	A|P	-|-	2|1	0|0	HUWE1|HUWE1	53598406|53598406	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	6.111000|6.111000	0.71541|0.71541	2.467000|2.467000	0.83353|0.83353	0.600000|0.600000	0.82982|0.82982	GCC|CCT		0.532	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
PHF8	23133	hgsc.bcm.edu	37	X	54022170	54022170	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:54022170C>T	ENST00000357988.5	-	12	1745	c.1387G>A	c.(1387-1389)Gta>Ata	p.V463I	PHF8_ENST00000338154.6_Missense_Mutation_p.V427I|PHF8_ENST00000322659.8_Missense_Mutation_p.V427I|PHF8_ENST00000338946.6_Missense_Mutation_p.V427I	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	463					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.V427I(3)		endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						ATGAGCTGTACGGTTCGCACT	0.502																																					p.V427I												.	.	3	Substitution - Missense(3)	endometrium(2)|large_intestine(1)	c.G1279A	X						.						116.0	82.0	94.0					X																	54022170		2203	4300	6503	54038895	SO:0001583	missense	23133	exon12			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.1387G>A	X.37:g.54022170C>T	ENSP00000350676:p.Val463Ile	Somatic		Capture	SOLID	Phase_I	54038895	NM_015107	B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	ENST00000357988.5	37	CCDS55420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.19|10.19	1.280884|1.280884	0.23392|0.23392	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000443302|ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659	.|T;T;T;T	.|0.42131	.|0.98;0.98;0.98;0.98	5.62|5.62	4.76|4.76	0.60689|0.60689	.|.	.|0.224733	.|0.44285	.|D	.|0.000478	T|T	0.25382|0.25382	0.0617|0.0617	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.21147	.|0.0;0.031;0.052;0.0	.|B;B;B;B	.|0.09377	.|0.0;0.002;0.004;0.0	T|T	0.13415|0.13415	-1.0510|-1.0510	5|10	.|0.35671	.|T	.|0.21	-2.5741|-2.5741	7.7243|7.7243	0.28750|0.28750	0.1615:0.7523:0.0:0.0861|0.1615:0.7523:0.0:0.0861	.|.	.|427;427;463;463	.|Q9UPP1-2;B7Z911;Q9UPP1-3;Q9UPP1	.|.;.;.;PHF8_HUMAN	H|I	190|463;427;427;457;427	.|ENSP00000350676:V463I;ENSP00000338868:V427I;ENSP00000340051:V427I;ENSP00000319473:V427I	.|ENSP00000319473:V427I	R|V	-|-	2|1	0|0	PHF8|PHF8	54038895|54038895	0.985000|0.985000	0.35326|0.35326	0.923000|0.923000	0.36655|0.36655	0.978000|0.978000	0.69477|0.69477	2.395000|2.395000	0.44459|0.44459	1.140000|1.140000	0.42260|0.42260	0.468000|0.468000	0.43344|0.43344	CGT|GTA		0.502	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107	
WNK3	65267	hgsc.bcm.edu	37	X	54275306	54275306	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:54275306C>A	ENST00000375159.2	-	16	3474	c.3475G>T	c.(3475-3477)Gaa>Taa	p.E1159*	WNK3_ENST00000375169.3_Nonsense_Mutation_p.E1159*|WNK3_ENST00000354646.2_Nonsense_Mutation_p.E1159*			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1159					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E1159*(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GCTATGACTTCTGTCACTGGA	0.468																																					p.E1159X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3475T	X						.						114.0	108.0	110.0					X																	54275306		2203	4300	6503	54292031	SO:0001587	stop_gained	65267	exon17			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.3475G>T	X.37:g.54275306C>A	ENSP00000364301:p.Glu1159*	Somatic		Capture	SOLID	Phase_I	54292031	NM_001002838	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Nonsense_Mutation	SNP	ENST00000375159.2	37	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	41	9.003430	0.99033	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	.	.	.	5.19	5.19	0.71726	.	0.093215	0.47093	D	0.000259	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-9.6553	16.4428	0.83907	0.0:1.0:0.0:0.0	.	.	.	.	X	1159	.	ENSP00000346667:E1159X	E	-	1	0	WNK3	54292031	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.941000	0.63540	2.138000	0.66242	0.544000	0.68410	GAA		0.468	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922	
WNK3	65267	hgsc.bcm.edu	37	X	54276014	54276014	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:54276014C>A	ENST00000375159.2	-	16	2766	c.2767G>T	c.(2767-2769)Gaa>Taa	p.E923*	WNK3_ENST00000375169.3_Nonsense_Mutation_p.E923*|WNK3_ENST00000354646.2_Nonsense_Mutation_p.E923*			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	923					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E923*(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GGATTATTTTCTATAGTGAGC	0.393																																					p.E923X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2767T	X						.						100.0	98.0	98.0					X																	54276014		2203	4300	6503	54292739	SO:0001587	stop_gained	65267	exon17			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.2767G>T	X.37:g.54276014C>A	ENSP00000364301:p.Glu923*	Somatic		Capture	SOLID	Phase_I	54292739	NM_001002838	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Nonsense_Mutation	SNP	ENST00000375159.2	37	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	38	7.161071	0.98103	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	.	.	.	4.72	3.79	0.43588	.	0.237591	0.29009	N	0.013422	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-16.6098	11.1801	0.48623	0.1824:0.8176:0.0:0.0	.	.	.	.	X	923	.	ENSP00000346667:E923X	E	-	1	0	WNK3	54292739	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	2.198000	0.42705	2.065000	0.61736	0.544000	0.68410	GAA		0.393	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922	
ALAS2	212	hgsc.bcm.edu	37	X	55044078	55044078	+	Missense_Mutation	SNP	C	C	T	rs368251919		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:55044078C>T	ENST00000330807.5	-	7	981	c.844G>A	c.(844-846)Gca>Aca	p.A282T	ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000396198.3_Missense_Mutation_p.A269T|ALAS2_ENST00000335854.4_Missense_Mutation_p.A245T	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	282					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)	p.A282T(1)		central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	TGGTTGCCTGCGTCTGAGTAA	0.473																																					p.A282T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G844A	X						.	C	THR/ALA,THR/ALA,THR/ALA	0,3835		0,0,1632,571	159.0	127.0	138.0		844,733,805	5.4	1.0	X		138	1,6727		0,1,2427,1872	no	missense,missense,missense	ALAS2	NM_000032.4,NM_001037967.3,NM_001037968.3	58,58,58	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging,probably-damaging,probably-damaging	282/588,245/551,269/575	55044078	1,10562	2203	4300	6503	55060803	SO:0001583	missense	212	exon7				CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.844G>A	X.37:g.55044078C>T	ENSP00000332369:p.Ala282Thr	Somatic		Capture	SOLID	Phase_I	55060803	NM_000032	A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	ENST00000330807.5	37	CCDS14366.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997202	0.93167	0.0	1.49E-4	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.90620	-2.7;-2.7;-2.7	5.43	5.43	0.79202	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.097855	0.64402	D	0.000001	D	0.95614	0.8574	M	0.84511	2.7	0.58432	D	0.999995	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.71870	0.957;0.975;0.975	D	0.96022	0.9010	10	0.66056	D	0.02	-14.3679	17.2064	0.86920	0.0:1.0:0.0:0.0	.	245;269;282	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	T	282;269;245	ENSP00000332369:A282T;ENSP00000379501:A269T;ENSP00000337131:A245T	ENSP00000332369:A282T	A	-	1	0	ALAS2	55060803	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.012000	0.64017	2.415000	0.81967	0.513000	0.50165	GCA		0.473	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032	
HEPH	9843	hgsc.bcm.edu	37	X	65409719	65409719	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:65409719G>A	ENST00000343002.2	+	5	1666	c.1002G>A	c.(1000-1002)gaG>gaA	p.E334E	HEPH_ENST00000519389.1_Silent_p.E388E|HEPH_ENST00000419594.1_Silent_p.E337E|HEPH_ENST00000374727.3_Silent_p.E337E|HEPH_ENST00000441993.2_Silent_p.E337E|HEPH_ENST00000336279.5_Silent_p.E67E			Q9BQS7	HEPH_HUMAN	hephaestin	334	Plastocyanin-like 2.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.E334E(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TGACTGCTGAGATGGTGCCCT	0.488																																					p.E337E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1011A	X						.						97.0	65.0	76.0					X																	65409719		2203	4299	6502	65326444	SO:0001819	synonymous_variant	9843	exon6			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1002G>A	X.37:g.65409719G>A		Somatic		Capture	SOLID	Phase_I	65326444	NM_001130860	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	ENST00000343002.2	37																																																																																					0.488	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737	
AR	367	hgsc.bcm.edu	37	X	66942736	66942736	+	Silent	SNP	C	C	T	rs6153	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:66942736C>T	ENST00000374690.3	+	7	3041	c.2517C>T	c.(2515-2517)ctC>ctT	p.L839L	AR_ENST00000396044.3_Intron|AR_ENST00000396043.2_Silent_p.L307L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	838	Interaction with KAT7.|Interaction with LPXN.|Ligand-binding.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L839L(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	TCAAGGAACTCGATCGTATCA	0.458									Androgen Insensitivity Syndrome				c|||	2	0.000529801	0.0008	0.0	3775	,	,		15403	0.0		0.001	False		,,,				2504	0.0				p.L307L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C921T	X						.		,	0,3835		0,0,1632,571	109.0	95.0	100.0		2517,921	-4.5	0.9	X	dbSNP_52	100	5,6723		0,5,2423,1872	no	coding-synonymous,coding-synonymous	AR	NM_000044.3,NM_001011645.2	,	0,5,4055,2443	TT,TC,CC,C		0.0743,0.0,0.0473	,	839/921,307/389	66942736	5,10558	2203	4300	6503	66859461	SO:0001819	synonymous_variant	367	exon7	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.2517C>T	X.37:g.66942736C>T		Somatic		Capture	SOLID	Phase_I	66859461	NM_001011645	A2RUN2|B1AKD7|Q9UD95	Silent	SNP	ENST00000374690.3	37	CCDS14387.1																																																																																				0.458	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044	
ARR3	407	hgsc.bcm.edu	37	X	69500655	69500655	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:69500655G>A	ENST00000307959.8	+	15	1104	c.1053G>A	c.(1051-1053)ccG>ccA	p.P351P	RAB41_ENST00000276066.4_5'Flank|RAB41_ENST00000374473.2_5'Flank|ARR3_ENST00000374495.3_Silent_p.P351P	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	351					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)		p.P351P(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						TGATCCATCCGAAGCCATCTC	0.542																																					p.P351P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1053A	X						.						172.0	122.0	139.0					X																	69500655		2203	4300	6503	69417380	SO:0001819	synonymous_variant	407	exon15				CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.1053G>A	X.37:g.69500655G>A		Somatic		Capture	SOLID	Phase_I	69417380	NM_004312	B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Silent	SNP	ENST00000307959.8	37	CCDS14399.1																																																																																				0.542	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312	
UPRT	139596	hgsc.bcm.edu	37	X	74519615	74519615	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:74519615G>A	ENST00000373383.4	+	5	775	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	UPRT_ENST00000373379.1_Missense_Mutation_p.R203Q|UPRT_ENST00000530743.1_Missense_Mutation_p.R67Q	NM_145052.3	NP_659489.1	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	203					female pregnancy (GO:0007565)|lactation (GO:0007595)|response to insulin (GO:0032868)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R203Q(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						CGATCCATACGAATTGGAAAG	0.413																																					p.R203Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G608A	X						.						108.0	94.0	98.0					X																	74519615		2203	4300	6503	74436340	SO:0001583	missense	139596	exon5			BC015116	CCDS14429.1	Xq13.3	2009-01-14			ENSG00000094841	ENSG00000094841			28334	protein-coding gene	gene with protein product		300656				12477932	Standard	NM_145052		Approved	DKFZp781E1243, MGC23937, FUR1, RP11-311P8.3	uc004ecb.2	Q96BW1	OTTHUMG00000021864	ENST00000373383.4:c.608G>A	X.37:g.74519615G>A	ENSP00000362481:p.Arg203Gln	Somatic		Capture	SOLID	Phase_I	74436340	NM_145052	Q5JRL1|Q5JRL3|Q68DN0|Q96MW2	Missense_Mutation	SNP	ENST00000373383.4	37	CCDS14429.1	.	.	.	.	.	.	.	.	.	.	G	36	5.603460	0.96626	.	.	ENSG00000094841	ENST00000373383;ENST00000373379;ENST00000530743	D;D;D	0.92149	-2.98;-2.98;-2.98	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97517	0.9187	H	0.96398	3.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.98758	1.0723	10	0.87932	D	0	-14.534	17.6126	0.88058	0.0:0.0:1.0:0.0	.	203;203	A8KAF9;Q96BW1	.;UPP_HUMAN	Q	203;203;67	ENSP00000362481:R203Q;ENSP00000362477:R203Q;ENSP00000434037:R67Q	ENSP00000362477:R203Q	R	+	2	0	UPRT	74436340	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	9.460000	0.97641	2.376000	0.81061	0.544000	0.68410	CGA		0.413	UPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057278.1	NM_145052	
ZDHHC15	158866	hgsc.bcm.edu	37	X	74644585	74644585	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:74644585A>G	ENST00000373367.3	-	8	868	c.638T>C	c.(637-639)gTc>gCc	p.V213A	ZDHHC15_ENST00000541184.1_Missense_Mutation_p.V204A|ZDHHC15_ENST00000373361.3_Missense_Mutation_p.S173P	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	213					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.V213A(1)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						AAGAAAAAGGACATGGAACTT	0.383																																					p.V204A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T611C	X						.						84.0	62.0	69.0					X																	74644585		2203	4300	6503	74561310	SO:0001583	missense	158866	exon7			AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"""Zinc fingers, DHHC-type"""	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.638T>C	X.37:g.74644585A>G	ENSP00000362465:p.Val213Ala	Somatic		Capture	SOLID	Phase_I	74561310	NM_001146256	B3KVG7|Q3SY30|Q6UWH3	Missense_Mutation	SNP	ENST00000373367.3	37	CCDS14430.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.21|17.21	3.332450|3.332450	0.60853|0.60853	.|.	.|.	ENSG00000102383|ENSG00000102383	ENST00000373361|ENST00000373367;ENST00000541184	T|T;T	0.24908|0.24350	1.83|1.86;1.86	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.053253	.|0.64402	.|D	.|0.000001	T|T	0.45276|0.45276	0.1334|0.1334	M|M	0.62154|0.62154	1.92|1.92	0.21105|0.21105	N|N	0.99978|0.99978	.|P;D	.|0.59357	.|0.755;0.985	.|P;P	.|0.62491	.|0.689;0.903	T|T	0.38845|0.38845	-0.9642|-0.9642	7|10	0.54805|0.51188	T|T	0.06|0.08	-2.4283|-2.4283	14.0086|14.0086	0.64481|0.64481	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|204;213	.|B3KVG7;Q96MV8	.|.;ZDH15_HUMAN	P|A	173|213;204	ENSP00000362459:S173P|ENSP00000362465:V213A;ENSP00000445420:V204A	ENSP00000362459:S173P|ENSP00000362465:V213A	S|V	-|-	1|2	0|0	ZDHHC15|ZDHHC15	74561310|74561310	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	8.704000|8.704000	0.91351|0.91351	1.973000|1.973000	0.57446|0.57446	0.486000|0.486000	0.48141|0.48141	TCC|GTC		0.383	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057283.1	NM_144969	
ATRX	546	hgsc.bcm.edu	37	X	76889176	76889176	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:76889176G>T	ENST00000373344.5	-	18	5048	c.4834C>A	c.(4834-4836)Ctt>Att	p.L1612I	ATRX_ENST00000395603.3_Missense_Mutation_p.L1574I|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1612	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.L1612V(2)|p.L1612I(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCACACAAAAGAACTGTATGA	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																														p.L1574I			Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	.	.	4	Substitution - Missense(3)|Unknown(1)	lung(2)|large_intestine(1)|bone(1)	c.C4720A	X						.						41.0	37.0	38.0					X																	76889176		2202	4295	6497	76775832	SO:0001583	missense	546	exon17			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4834C>A	X.37:g.76889176G>T	ENSP00000362441:p.Leu1612Ile	Somatic		Capture	SOLID	Phase_I	76775832	NM_138270	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935082	0.52866	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.94330	-3.4;-3.4	5.46	4.37	0.52481	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.56097	D	0.000022	D	0.94941	0.8364	L	0.58669	1.825	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.99;0.999	D	0.94450	0.7666	10	0.72032	D	0.01	-6.5529	9.2818	0.37733	0.184:0.0:0.816:0.0	.	1574;1612	P46100-4;P46100	.;ATRX_HUMAN	I	1612;1574	ENSP00000362441:L1612I;ENSP00000378967:L1574I	ENSP00000362441:L1612I	L	-	1	0	ATRX	76775832	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.288000	0.65651	2.408000	0.81797	0.594000	0.82650	CTT		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
ATRX	546	hgsc.bcm.edu	37	X	76939221	76939221	+	Silent	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:76939221A>C	ENST00000373344.5	-	9	1741	c.1527T>G	c.(1525-1527)acT>acG	p.T509T	ATRX_ENST00000395603.3_Silent_p.T471T|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	509					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.T509T(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AATCTTCAGAAGTGTTGGCAG	0.378			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																														p.T471T			Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	.	.	2	Unknown(1)|Substitution - coding silent(1)	large_intestine(1)|bone(1)	c.T1413G	X						.						213.0	214.0	214.0					X																	76939221		2203	4296	6499	76825877	SO:0001819	synonymous_variant	546	exon8			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1527T>G	X.37:g.76939221A>C		Somatic		Capture	SOLID	Phase_I	76825877	NM_138270	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	CCDS14434.1																																																																																				0.378	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
CYSLTR1	10800	hgsc.bcm.edu	37	X	77528508	77528508	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:77528508A>G	ENST00000373304.3	-	3	1028	c.736T>C	c.(736-738)Ttc>Ctc	p.F246L		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	246					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)	p.F246L(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TATGGCATGAAACTGACTAAA	0.358																																					p.F246L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T736C	X						.						103.0	93.0	96.0					X																	77528508		2202	4300	6502	77415164	SO:0001583	missense	10800	exon3			AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"""GPCR / Class A : Leukotriene receptors"""	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.736T>C	X.37:g.77528508A>G	ENSP00000362401:p.Phe246Leu	Somatic		Capture	SOLID	Phase_I	77415164	NM_006639	B2R954|D3DTE4|Q5JS94|Q8IV19	Missense_Mutation	SNP	ENST00000373304.3	37	CCDS14439.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.454097	0.63290	.	.	ENSG00000173198	ENST00000373304	T	0.72615	-0.67	4.15	4.15	0.48705	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85048	0.5608	M	0.90650	3.135	0.47621	D	0.999479	D	0.76494	0.999	D	0.83275	0.996	D	0.86897	0.2052	10	0.72032	D	0.01	.	10.1826	0.42977	1.0:0.0:0.0:0.0	.	246	Q9Y271	CLTR1_HUMAN	L	246	ENSP00000362401:F246L	ENSP00000362401:F246L	F	-	1	0	CYSLTR1	77415164	1.000000	0.71417	0.999000	0.59377	0.596000	0.36781	8.888000	0.92464	1.521000	0.48983	0.381000	0.24937	TTC		0.358	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057315.1		
ZCCHC5	203430	hgsc.bcm.edu	37	X	77913076	77913076	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:77913076T>A	ENST00000321110.1	-	2	1137	c.842A>T	c.(841-843)aAt>aTt	p.N281I		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	281							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.N281I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TGAGAAGCAATTGCCAACAAA	0.502																																					p.N281I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A842T	X						.						39.0	37.0	37.0					X																	77913076		2203	4300	6503	77799732	SO:0001583	missense	203430	exon2			AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.842A>T	X.37:g.77913076T>A	ENSP00000316794:p.Asn281Ile	Somatic		Capture	SOLID	Phase_I	77799732	NM_152694	B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	T	7.268	0.606550	0.14002	.	.	ENSG00000179300	ENST00000321110	T	0.18338	2.22	3.36	0.436	0.16549	.	0.358862	0.18236	U	0.147402	T	0.07908	0.0198	N	0.22421	0.69	0.09310	N	1	P	0.46912	0.886	B	0.37833	0.259	T	0.27502	-1.0072	10	0.87932	D	0	.	1.7061	0.02882	0.2761:0.238:0.0:0.4859	.	281	Q8N8U3	ZCHC5_HUMAN	I	281	ENSP00000316794:N281I	ENSP00000316794:N281I	N	-	2	0	ZCCHC5	77799732	0.000000	0.05858	0.091000	0.20842	0.043000	0.13939	0.478000	0.22212	0.000000	0.14550	0.417000	0.27973	AAT		0.502	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694	
P2RY10	27334	hgsc.bcm.edu	37	X	78216744	78216744	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:78216744C>T	ENST00000171757.2	+	4	1007	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W	P2RY10_ENST00000544091.1_Missense_Mutation_p.R243W	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.R243W(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GAAAGCACTGCGGATGGTGTT	0.443																																					p.R243W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C727T	X						.						126.0	113.0	118.0					X																	78216744		2203	4300	6503	78103400	SO:0001583	missense	27334	exon2			AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.727C>T	X.37:g.78216744C>T	ENSP00000171757:p.Arg243Trp	Somatic		Capture	SOLID	Phase_I	78103400	NM_198333	D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	CCDS14442.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068232	0.36470	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.40476	1.03;1.03	4.82	-0.427	0.12310	GPCR, rhodopsin-like superfamily (1);	0.064996	0.56097	D	0.000022	T	0.45696	0.1355	L	0.55103	1.725	0.36554	D	0.872014	P	0.41393	0.748	P	0.46825	0.528	T	0.53767	-0.8392	10	0.44086	T	0.13	.	16.4756	0.84131	0.8106:0.1894:0.0:0.0	.	243	O00398	P2Y10_HUMAN	W	243	ENSP00000443138:R243W;ENSP00000171757:R243W	ENSP00000171757:R243W	R	+	1	2	P2RY10	78103400	0.934000	0.31675	0.025000	0.17156	0.804000	0.45430	0.277000	0.18734	-0.464000	0.06963	0.540000	0.68198	CGG		0.443	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1		
FAM46D	169966	hgsc.bcm.edu	37	X	79698596	79698596	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:79698596C>A	ENST00000308293.5	+	3	797	c.558C>A	c.(556-558)ttC>ttA	p.F186L	FAM46D_ENST00000538312.1_Missense_Mutation_p.F186L	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	186								p.F186L(1)		kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TGTTAGACTTCTACAGTGACA	0.388																																					p.F186L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C558A	X						.						67.0	63.0	64.0					X																	79698596		2201	4298	6499	79585252	SO:0001583	missense	169966	exon3			BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"""cancer/testis antigen 112"""					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.558C>A	X.37:g.79698596C>A	ENSP00000308575:p.Phe186Leu	Somatic		Capture	SOLID	Phase_I	79585252	NM_152630	B2R9Q6|Q7Z3F6|Q8NHU1	Missense_Mutation	SNP	ENST00000308293.5	37	CCDS14446.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298238	0.23650	.	.	ENSG00000174016	ENST00000538312;ENST00000308293	T;T	0.28895	1.59;1.59	4.8	1.03	0.20045	Domain of unknown function DUF1693 (1);	0.996321	0.08136	N	0.992345	T	0.29976	0.0750	L	0.58101	1.795	0.33091	D	0.537922	B	0.19817	0.039	B	0.15870	0.014	T	0.28808	-1.0032	10	0.48119	T	0.1	-4.5943	8.2219	0.31547	0.0:0.4482:0.0:0.5518	.	186	Q8NEK8	FA46D_HUMAN	L	186	ENSP00000443410:F186L;ENSP00000308575:F186L	ENSP00000308575:F186L	F	+	3	2	FAM46D	79585252	0.675000	0.27558	0.195000	0.23364	0.743000	0.42351	-0.160000	0.10041	-0.113000	0.11958	0.594000	0.82650	TTC		0.388	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057338.1	NM_152630	
CPXCR1	53336	hgsc.bcm.edu	37	X	88009005	88009005	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:88009005G>T	ENST00000276127.4	+	3	849	c.590G>T	c.(589-591)aGa>aTa	p.R197I	CPXCR1_ENST00000373111.1_Missense_Mutation_p.R197I	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	197							metal ion binding (GO:0046872)	p.R197I(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						ATAACATTTAGAAGGCCTTCG	0.433																																					p.R197I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G590T	X						.						71.0	57.0	62.0					X																	88009005		2203	4300	6503	87895661	SO:0001583	missense	53336	exon3			AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.590G>T	X.37:g.88009005G>T	ENSP00000276127:p.Arg197Ile	Somatic		Capture	SOLID	Phase_I	87895661	NM_033048	B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	G	5.986	0.365815	0.11352	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.43294	0.95;0.95	2.97	2.97	0.34412	.	0.705369	0.11676	N	0.540273	T	0.32704	0.0838	N	0.19112	0.55	0.30083	N	0.809011	P	0.49447	0.924	P	0.47981	0.563	T	0.10177	-1.0641	9	.	.	.	-4.5697	8.6499	0.34029	0.0:0.0:1.0:0.0	.	197	Q8N123	CPXCR_HUMAN	I	197	ENSP00000276127:R197I;ENSP00000362203:R197I	.	R	+	2	0	CPXCR1	87895661	0.918000	0.31147	0.561000	0.28357	0.024000	0.10985	0.946000	0.29069	1.767000	0.52121	0.594000	0.82650	AGA		0.433	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048	
DIAPH2	1730	hgsc.bcm.edu	37	X	96173573	96173573	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:96173573C>A	ENST00000324765.8	+	9	1282	c.935C>A	c.(934-936)cCa>cAa	p.P312Q	DIAPH2_ENST00000373061.3_Missense_Mutation_p.P312Q|DIAPH2_ENST00000373049.4_Missense_Mutation_p.P312Q|DIAPH2_ENST00000373054.4_Missense_Mutation_p.P308Q|DIAPH2_ENST00000355827.4_Missense_Mutation_p.P312Q			O60879	DIAP2_HUMAN	diaphanous-related formin 2	312	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)	p.P312Q(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CGATTTTCACCAATTGTGGAA	0.333																																					p.P312Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C935A	X						.						87.0	78.0	81.0					X																	96173573		2203	4298	6501	96060229	SO:0001583	missense	1730	exon9			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.935C>A	X.37:g.96173573C>A	ENSP00000321348:p.Pro312Gln	Somatic		Capture	SOLID	Phase_I	96060229	NM_007309	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	c	15.44	2.835595	0.50951	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76	5.77	4.91	0.64330	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.298995	0.32640	N	0.005835	D	0.90390	0.6992	M	0.86268	2.805	0.45161	D	0.998179	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.77557	0.983;0.957;0.99	D	0.90430	0.4423	10	0.87932	D	0	.	8.39	0.32522	0.2004:0.7183:0.0:0.0813	.	312;312;319	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	Q	312;308;312;312;312;319	ENSP00000362152:P312Q;ENSP00000362145:P308Q;ENSP00000348082:P312Q;ENSP00000362140:P312Q;ENSP00000321348:P312Q	ENSP00000321348:P312Q	P	+	2	0	DIAPH2	96060229	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	3.267000	0.51577	1.197000	0.43143	0.534000	0.68092	CCA		0.333	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309	
DIAPH2	1730	hgsc.bcm.edu	37	X	96330187	96330187	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:96330187G>A	ENST00000324765.8	+	19	2521	c.2174G>A	c.(2173-2175)cGc>cAc	p.R725H	DIAPH2_ENST00000373061.3_Missense_Mutation_p.R725H|DIAPH2_ENST00000373049.4_Missense_Mutation_p.R725H|DIAPH2_ENST00000373054.4_Missense_Mutation_p.R721H|DIAPH2_ENST00000355827.4_Missense_Mutation_p.R725H			O60879	DIAP2_HUMAN	diaphanous-related formin 2	725	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)	p.R725H(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GGATCATATCGCATGCCATAT	0.313																																					p.R725H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2174A	X						.						113.0	100.0	104.0					X																	96330187		2203	4299	6502	96216843	SO:0001583	missense	1730	exon19			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.2174G>A	X.37:g.96330187G>A	ENSP00000321348:p.Arg725His	Somatic		Capture	SOLID	Phase_I	96216843	NM_007309	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961813	0.53400	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.17	5.17	0.71159	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.62612	0.2442	M	0.69823	2.125	0.53005	D	0.999968	D;D	0.71674	0.998;0.997	D;D	0.76071	0.987;0.978	T	0.59354	-0.7470	10	0.25106	T	0.35	.	16.6711	0.85267	0.0:0.0:1.0:0.0	.	725;725	O60879;O60879-2	DIAP2_HUMAN;.	H	725;721;725;725;725;732	ENSP00000362152:R725H;ENSP00000362145:R721H;ENSP00000348082:R725H;ENSP00000362140:R725H;ENSP00000321348:R725H	ENSP00000321348:R725H	R	+	2	0	DIAPH2	96216843	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	8.092000	0.89530	2.282000	0.76494	0.422000	0.28245	CGC		0.313	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309	
CLIC2	1193	hgsc.bcm.edu	37	X	154507219	154507219	+	Silent	SNP	G	G	A	rs367873692		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chrX:154507219G>A	ENST00000369449.2	-	6	935	c.717C>T	c.(715-717)taC>taT	p.Y239Y	CLIC2_ENST00000465553.1_5'Flank	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	239	C-terminal.|GST C-terminal.				chloride transmembrane transport (GO:1902476)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|oxidation-reduction process (GO:0055114)|positive regulation of binding (GO:0051099)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|signal transduction (GO:0007165)|transport (GO:0006810)	chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)|glutathione peroxidase activity (GO:0004602)|voltage-gated chloride channel activity (GO:0005247)	p.Y239Y(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCACATTTGCGTAAGTATTTT	0.393													G|||	2	0.000529801	0.0015	0.0	3775	,	,		13397	0.0		0.0	False		,,,				2504	0.0				p.Y239Y	Melanoma(108;581 1592 2289 21669 28822)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C717T	X						.	G		1,3834		0,1,1631,571	111.0	104.0	106.0		717	-0.5	0.5	X		106	0,6728		0,0,2428,1872	no	coding-synonymous	CLIC2	NM_001289.4		0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095		239/248	154507219	1,10562	2203	4300	6503	154160413	SO:0001819	synonymous_variant	1193	exon6			AJ000217	CCDS14767.1	Xq28	2012-09-26			ENSG00000155962	ENSG00000155962		"""Ion channels / Chloride channels : Intracellular"""	2063	protein-coding gene	gene with protein product		300138				9339381	Standard	NM_001289		Approved	XAP121	uc004fnf.3	O15247	OTTHUMG00000022660	ENST00000369449.2:c.717C>T	X.37:g.154507219G>A		Somatic		Capture	SOLID	Phase_I	154160413	NM_001289	A8K9S0|O15174|Q5JT80|Q8TCE3	Silent	SNP	ENST00000369449.2	37	CCDS14767.1																																																																																				0.393	CLIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058793.1	NM_001289	
ZNF518B	85460	hgsc.bcm.edu	37	4	10445769	10445769	+	Silent	SNP	C	C	T	rs374035596		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:10445769C>T	ENST00000326756.3	-	3	2622	c.2184G>A	c.(2182-2184)ccG>ccA	p.P728P		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	728					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.P728P(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CACCATCATTCGGAGGTTTCT	0.423																																					p.P728P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2184A	4						.	C		0,4406		0,0,2203	128.0	129.0	129.0		2184	4.1	0.0	4		129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF518B	NM_053042.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		728/1075	10445769	1,13005	2203	4300	6503	10054867	SO:0001819	synonymous_variant	85460	exon3			AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2184G>A	4.37:g.10445769C>T		Somatic		Capture	SOLID	Phase_I	10054867	NM_053042	Q96LN8	Silent	SNP	ENST00000326756.3	37	CCDS33960.1																																																																																				0.423	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042	
ADH7	131	hgsc.bcm.edu	37	4	100341899	100341899	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:100341899A>G	ENST00000209665.4	-	6	892	c.652T>C	c.(652-654)Tca>Cca	p.S218P	ADH7_ENST00000437033.2_Missense_Mutation_p.S206P|ADH7_ENST00000482593.1_Missense_Mutation_p.S149P|ADH7_ENST00000476959.1_Missense_Mutation_p.S226P	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	218					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)	p.S218P(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		ATGATGACTGACAGGCCAACT	0.488																																					p.S226P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T676C	4						.						109.0	94.0	99.0					4																	100341899		2203	4300	6503	100560922	SO:0001583	missense	131	exon6			X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"""Alcohol dehydrogenases"""	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.652T>C	4.37:g.100341899A>G	ENSP00000209665:p.Ser218Pro	Somatic		Capture	SOLID	Phase_I	100560922	NM_001166504	A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	ENST00000209665.4	37	CCDS34034.1	.	.	.	.	.	.	.	.	.	.	A	16.00	2.999497	0.54147	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959	T;T;T;T	0.04317	3.65;3.65;3.65;3.65	3.8	1.12	0.20585	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.135128	0.50627	D	0.000114	T	0.15089	0.0364	M	0.93062	3.375	0.22684	N	0.99885	P	0.38370	0.628	P	0.47044	0.535	T	0.05582	-1.0876	10	0.87932	D	0	-7.0155	5.976	0.19379	0.5133:0.3283:0.0:0.1583	.	218	P40394	ADH7_HUMAN	P	206;218;149;226	ENSP00000414254:S206P;ENSP00000209665:S218P;ENSP00000420613:S149P;ENSP00000420269:S226P	ENSP00000209665:S218P	S	-	1	0	ADH7	100560922	0.998000	0.40836	0.002000	0.10522	0.974000	0.67602	4.570000	0.60872	0.045000	0.15804	0.460000	0.39030	TCA		0.488	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673	
MANBA	4126	hgsc.bcm.edu	37	4	103557118	103557118	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:103557118G>T	ENST00000226578.4	-	15	2160	c.2061C>A	c.(2059-2061)ttC>ttA	p.F687L	MANBA_ENST00000505239.1_Missense_Mutation_p.F630L	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	687					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)	p.F687L(1)		cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GTGGAGCAAAGAAATTCTGAG	0.418																																					p.F687L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2061A	4						.						102.0	99.0	100.0					4																	103557118		2203	4300	6503	103776166	SO:0001583	missense	4126	exon15				CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.2061C>A	4.37:g.103557118G>T	ENSP00000226578:p.Phe687Leu	Somatic		Capture	SOLID	Phase_I	103776166	NM_005908	Q96BC3|Q9NYX9	Missense_Mutation	SNP	ENST00000226578.4	37	CCDS3658.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699797	0.88924	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	T;T	0.60672	0.17;0.17	5.42	5.42	0.78866	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.82093	0.4962	M	0.90870	3.155	0.58432	D	0.999999	D;D	0.89917	1.0;0.974	D;P	0.91635	0.999;0.742	D	0.85948	0.1462	10	0.72032	D	0.01	-24.7257	19.2383	0.93871	0.0:0.0:1.0:0.0	.	630;687	E9PFW2;O00462	.;MANBA_HUMAN	L	687;630	ENSP00000226578:F687L;ENSP00000427322:F630L	ENSP00000226578:F687L	F	-	3	2	MANBA	103776166	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	5.906000	0.69900	2.525000	0.85131	0.655000	0.94253	TTC		0.418	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2		
UGT8	7368	hgsc.bcm.edu	37	4	115544340	115544340	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:115544340G>A	ENST00000310836.6	+	2	826	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	UGT8_ENST00000394511.3_Missense_Mutation_p.E102K	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	102					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)	p.E102K(3)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		GACAGCAATCGAACTGTTTGA	0.463																																					p.E102K												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G304A	4						.						147.0	144.0	145.0					4																	115544340		2203	4300	6503	115763789	SO:0001583	missense	7368	exon2			AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.304G>A	4.37:g.115544340G>A	ENSP00000311648:p.Glu102Lys	Somatic		Capture	SOLID	Phase_I	115763789	NM_001128174	B3KXU7|O00196	Missense_Mutation	SNP	ENST00000310836.6	37	CCDS3705.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491704	0.84962	.	.	ENSG00000174607	ENST00000310836;ENST00000507710;ENST00000394511	T;T;T	0.07688	3.17;3.17;3.17	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.06917	0.0176	N	0.17594	0.5	0.80722	D	1	P	0.34837	0.472	B	0.34824	0.19	T	0.47381	-0.9122	10	0.15499	T	0.54	.	19.0796	0.93177	0.0:0.0:1.0:0.0	.	102	Q16880	CGT_HUMAN	K	102	ENSP00000311648:E102K;ENSP00000421446:E102K;ENSP00000378019:E102K	ENSP00000311648:E102K	E	+	1	0	UGT8	115763789	1.000000	0.71417	0.941000	0.38009	0.974000	0.67602	7.614000	0.82996	2.590000	0.87494	0.650000	0.86243	GAA		0.463	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360	
UGT8	7368	hgsc.bcm.edu	37	4	115597108	115597108	+	Silent	SNP	G	G	A	rs539126773		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:115597108G>A	ENST00000310836.6	+	6	1812	c.1290G>A	c.(1288-1290)tcG>tcA	p.S430S	UGT8_ENST00000394511.3_Silent_p.S430S	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	430					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)	p.S430S(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		AGAAGCTTTCGGAAATTCACA	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		16043	0.0		0.0	False		,,,				2504	0.001				p.S430S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1290A	4						.						100.0	98.0	99.0					4																	115597108		2203	4300	6503	115816557	SO:0001819	synonymous_variant	7368	exon6			AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.1290G>A	4.37:g.115597108G>A		Somatic		Capture	SOLID	Phase_I	115816557	NM_001128174	B3KXU7|O00196	Silent	SNP	ENST00000310836.6	37	CCDS3705.1																																																																																				0.408	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360	
MYOZ2	51778	hgsc.bcm.edu	37	4	120107311	120107311	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:120107311G>A	ENST00000307128.5	+	6	964	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K		NM_016599.4	NP_057683.1			myozenin 2									p.E251K(2)		endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GATAACAACCGAACCTACAGA	0.388																																					p.E251K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G751A	4						.						82.0	81.0	81.0					4																	120107311		2203	4300	6503	120326759	SO:0001583	missense	51778	exon6			AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"""chromosome 4 open reading frame 5"""	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.751G>A	4.37:g.120107311G>A	ENSP00000306997:p.Glu251Lys	Somatic		Capture	SOLID	Phase_I	120326759	NM_016599		Missense_Mutation	SNP	ENST00000307128.5	37	CCDS3711.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321895	0.60634	.	.	ENSG00000172399	ENST00000307128	T	0.66099	-0.19	5.83	4.99	0.66335	.	0.576964	0.18703	N	0.133537	T	0.46367	0.1389	N	0.22421	0.69	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.29212	-1.0019	10	0.27785	T	0.31	-12.1498	10.7232	0.46052	0.0748:0.1683:0.7569:0.0	.	251	Q9NPC6	MYOZ2_HUMAN	K	251	ENSP00000306997:E251K	ENSP00000306997:E251K	E	+	1	0	MYOZ2	120326759	0.929000	0.31497	0.057000	0.19452	0.792000	0.44763	2.732000	0.47352	1.466000	0.48025	0.650000	0.86243	GAA		0.388	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2		
TRPC3	7222	hgsc.bcm.edu	37	4	122846352	122846352	+	Missense_Mutation	SNP	G	G	A	rs200628425		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:122846352G>A	ENST00000379645.3	-	3	1070	c.997C>T	c.(997-999)Cgg>Tgg	p.R333W	TRPC3_ENST00000513531.1_Missense_Mutation_p.R260W|TRPC3_ENST00000264811.5_Missense_Mutation_p.R260W	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	248					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.R260W(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GAGAGCTTCCGATAGTCATTC	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		19206	0.0		0.0	False		,,,				2504	0.001				p.R333W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C997T	4						.						66.0	62.0	63.0					4																	122846352		2203	4300	6503	123065802	SO:0001583	missense	7222	exon3			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.997C>T	4.37:g.122846352G>A	ENSP00000368966:p.Arg333Trp	Somatic		Capture	SOLID	Phase_I	123065802	NM_001130698	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050695	0.75960	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	T;T;T	0.64803	-0.12;-0.12;-0.12	5.92	4.12	0.48240	.	0.088468	0.48286	D	0.000193	T	0.67496	0.2899	L	0.55481	1.735	0.47949	D	0.999557	B;D	0.69078	0.159;0.997	B;P	0.58172	0.043;0.834	T	0.67738	-0.5593	10	0.72032	D	0.01	-2.5925	8.2085	0.31469	0.0736:0.0:0.5944:0.3319	.	260;333	E9PCJ9;Q5G1L5	.;.	W	260;333;260	ENSP00000264811:R260W;ENSP00000368966:R333W;ENSP00000426899:R260W	ENSP00000264811:R260W	R	-	1	2	TRPC3	123065802	0.085000	0.21516	0.999000	0.59377	0.998000	0.95712	0.939000	0.28978	0.759000	0.33084	0.655000	0.94253	CGG		0.398	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305	
BBS12	166379	hgsc.bcm.edu	37	4	123664549	123664549	+	Missense_Mutation	SNP	C	C	T	rs138011813		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:123664549C>T	ENST00000314218.3	+	2	1695	c.1502C>T	c.(1501-1503)aCg>aTg	p.T501M	BBS12_ENST00000542236.1_Missense_Mutation_p.T501M	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	501			T -> M (in BBS12; significantly reduces the interaction with MKKS; shows significantly decreased interaction with BBS7; the interaction with BBS10 is not affected by this mutation). {ECO:0000269|PubMed:17160889, ECO:0000269|PubMed:21344540}.		cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)	p.T501M(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AATTTGGTTACGGCCGTGCTC	0.423									Bardet-Biedl syndrome				C|||	1	0.000199681	0.0008	0.0	5008	,	,		21652	0.0		0.0	False		,,,				2504	0.0				p.T501M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1502T	4	GRCh37	CM070031	BBS12	M	rs138011813	.	C	MET/THR,MET/THR	2,4404	6.2+/-15.9	0,2,2201	90.0	88.0	89.0		1502,1502	5.7	1.0	4	dbSNP_134	89	0,8600		0,0,4300	no	missense,missense	BBS12	NM_001178007.1,NM_152618.2	81,81	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	501/711,501/711	123664549	2,13004	2203	4300	6503	123883999	SO:0001583	missense	166379	exon2	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1502C>T	4.37:g.123664549C>T	ENSP00000319062:p.Thr501Met	Somatic		Capture	SOLID	Phase_I	123883999	NM_152618	D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	ENST00000314218.3	37	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747648	0.69533	4.54E-4	0.0	ENSG00000181004	ENST00000314218;ENST00000542236	D;D	0.82619	-1.63;-1.63	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.91412	0.7290	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91732	0.5397	10	0.87932	D	0	-22.761	19.8362	0.96658	0.0:1.0:0.0:0.0	.	501	Q6ZW61	BBS12_HUMAN	M	501	ENSP00000319062:T501M;ENSP00000438273:T501M	ENSP00000319062:T501M	T	+	2	0	BBS12	123883999	1.000000	0.71417	0.978000	0.43139	0.408000	0.30992	6.968000	0.76086	2.684000	0.91462	0.585000	0.79938	ACG		0.423	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618	
HSPA4L	22824	hgsc.bcm.edu	37	4	128726279	128726279	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:128726279G>A	ENST00000296464.4	+	9	1448	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	HSPA4L_ENST00000505726.1_Missense_Mutation_p.R320Q|HSPA4L_ENST00000508776.1_Missense_Mutation_p.R346Q|HSPA4L_ENST00000439123.2_Missense_Mutation_p.R377Q	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	346					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.R346Q(1)		central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GGAGCAACACGAATTCCTGCA	0.328																																					p.R346Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1037A	4						.						52.0	52.0	52.0					4																	128726279		2203	4299	6502	128945729	SO:0001583	missense	22824	exon9			AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.1037G>A	4.37:g.128726279G>A	ENSP00000296464:p.Arg346Gln	Somatic		Capture	SOLID	Phase_I	128945729	NM_014278	A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	37	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	G	34	5.352357	0.95830	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	T;T;T;T;T	0.03152	4.03;4.03;4.03;4.03;4.03	4.71	4.71	0.59529	Heat shock protein 70, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.29556	0.0737	H	0.95679	3.705	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.994;0.994	T	0.46843	-0.9162	10	0.87932	D	0	.	18.2081	0.89861	0.0:0.0:1.0:0.0	.	320;346;346	E9PDE8;A2ICT2;O95757	.;.;HS74L_HUMAN	Q	346;377;346;305;320	ENSP00000422482:R346Q;ENSP00000393926:R377Q;ENSP00000296464:R346Q;ENSP00000427305:R305Q;ENSP00000425645:R320Q	ENSP00000296464:R346Q	R	+	2	0	HSPA4L	128945729	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	8.901000	0.92560	2.609000	0.88269	0.655000	0.94253	CGA		0.328	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278	
SMAD1	4086	hgsc.bcm.edu	37	4	146474941	146474941	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:146474941C>A	ENST00000515385.1	+	6	1545	c.1003C>A	c.(1003-1005)Cat>Aat	p.H335N	SMAD1_ENST00000302085.4_Missense_Mutation_p.H335N|SMAD1_ENST00000394092.2_Missense_Mutation_p.H335N			Q15797	SMAD1_HUMAN	SMAD family member 1	335	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)	p.H335N(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					TATAGGAGTTCATCTTTATTA	0.393																																					p.H335N	Pancreas(182;1287 2092 10326 35158 50562)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1003A	4						.						154.0	138.0	143.0					4																	146474941		2203	4300	6503	146694391	SO:0001583	missense	4086	exon6			U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"""SMADs"""	6767	protein-coding gene	gene with protein product		601595	"""MAD, mothers against decapentaplegic homolog 1 (Drosophila)"", ""SMAD, mothers against DPP homolog 1 (Drosophila)"""	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.1003C>A	4.37:g.146474941C>A	ENSP00000426568:p.His335Asn	Somatic		Capture	SOLID	Phase_I	146694391	NM_005900	A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Missense_Mutation	SNP	ENST00000515385.1	37	CCDS3765.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486365	0.84854	.	.	ENSG00000170365	ENST00000302085;ENST00000394092;ENST00000515385	D;D;D	0.98666	-5.06;-5.06;-5.06	5.83	5.83	0.93111	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98172	0.9396	M	0.62016	1.91	0.80722	D	1	B	0.31769	0.339	B	0.39590	0.304	D	0.97772	1.0227	10	0.72032	D	0.01	.	20.1356	0.98028	0.0:1.0:0.0:0.0	.	335	Q15797	SMAD1_HUMAN	N	335	ENSP00000305769:H335N;ENSP00000377652:H335N;ENSP00000426568:H335N	ENSP00000305769:H335N	H	+	1	0	SMAD1	146694391	1.000000	0.71417	0.350000	0.25708	0.164000	0.22412	7.818000	0.86416	2.755000	0.94549	0.650000	0.86243	CAT		0.393	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365467.1	NM_005900	
POU4F2	5458	hgsc.bcm.edu	37	4	147561203	147561203	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:147561203C>T	ENST00000281321.3	+	2	721	c.473C>T	c.(472-474)tCg>tTg	p.S158L	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	158	Poly-Ser.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.S158L(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					TCTTCTTCATCGGTGCCCATC	0.652																																					p.S158L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C473T	4						.						101.0	109.0	106.0					4																	147561203		2203	4300	6503	147780653	SO:0001583	missense	5458	exon2			U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.473C>T	4.37:g.147561203C>T	ENSP00000281321:p.Ser158Leu	Somatic		Capture	SOLID	Phase_I	147780653	NM_004575	B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794747	0.50102	.	.	ENSG00000151615	ENST00000281321	D	0.82433	-1.61	5.77	5.77	0.91146	.	0.405934	0.27986	N	0.017043	T	0.77896	0.4199	L	0.43923	1.385	0.80722	D	1	P	0.52692	0.955	B	0.38562	0.276	T	0.78099	-0.2336	10	0.34782	T	0.22	.	18.7641	0.91865	0.0:1.0:0.0:0.0	.	158	Q12837	PO4F2_HUMAN	L	158	ENSP00000281321:S158L	ENSP00000281321:S158L	S	+	2	0	POU4F2	147780653	1.000000	0.71417	0.853000	0.33588	0.666000	0.39218	7.413000	0.80104	2.729000	0.93468	0.467000	0.42956	TCG		0.652	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575	
PRMT9	90826	hgsc.bcm.edu	37	4	148575201	148575201	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:148575201C>T	ENST00000322396.6	-	9	2089	c.1847G>A	c.(1846-1848)cGt>cAt	p.R616H	TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Missense_Mutation_p.R503H	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		616	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)	p.R616H(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						CAGAGCAATACGATGCTGGTC	0.448																																					p.R616H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1847A	4						.						135.0	117.0	123.0					4																	148575201		2203	4300	6503	148794651	SO:0001583	missense	90826	exon9																														ENST00000322396.6:c.1847G>A	4.37:g.148575201C>T	ENSP00000314396:p.Arg616His	Somatic		Capture	SOLID	Phase_I	148794651	NM_138364	A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	ENST00000322396.6	37	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.401035	0.62288	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.30714	1.52;1.52	6.17	6.17	0.99709	.	0.111904	0.64402	D	0.000004	T	0.27313	0.0670	M	0.62723	1.935	0.33870	D	0.634796	P	0.49696	0.927	B	0.37650	0.255	T	0.39623	-0.9605	10	0.18276	T	0.48	-24.7231	11.7019	0.51575	0.0:0.8958:0.0:0.1042	.	616	Q6P2P2	ANM10_HUMAN	H	616;503	ENSP00000314396:R616H;ENSP00000439508:R503H	ENSP00000314396:R616H	R	-	2	0	PRMT10	148794651	1.000000	0.71417	0.735000	0.30896	0.986000	0.74619	4.472000	0.60189	2.941000	0.99782	0.655000	0.94253	CGT		0.448	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1		
LRBA	987	hgsc.bcm.edu	37	4	151791717	151791717	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:151791717C>T	ENST00000357115.3	-	20	2652	c.2409G>A	c.(2407-2409)caG>caA	p.Q803Q	LRBA_ENST00000510413.1_Silent_p.Q803Q|LRBA_ENST00000535741.1_Silent_p.Q803Q|LRBA_ENST00000507224.1_Silent_p.Q803Q	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	803						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.Q803Q(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GATCTGGATGCTGTTTATGTA	0.318																																					p.Q803Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2409A	4						.						118.0	116.0	117.0					4																	151791717		2203	4294	6497	152011167	SO:0001819	synonymous_variant	987	exon20			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.2409G>A	4.37:g.151791717C>T		Somatic		Capture	SOLID	Phase_I	152011167	NM_001199282	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Silent	SNP	ENST00000357115.3	37	CCDS3773.1																																																																																				0.318	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		
LRBA	987	hgsc.bcm.edu	37	4	151835449	151835449	+	Silent	SNP	A	A	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:151835449A>G	ENST00000357115.3	-	9	1302	c.1059T>C	c.(1057-1059)gcT>gcC	p.A353A	LRBA_ENST00000510413.1_Silent_p.A353A|LRBA_ENST00000535741.1_Silent_p.A353A|LRBA_ENST00000507224.1_Silent_p.A353A	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	353						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.A353A(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATACTCTATTAGCATCTGCTG	0.358																																					p.A353A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1059C	4						.						126.0	131.0	129.0					4																	151835449		2203	4300	6503	152054899	SO:0001819	synonymous_variant	987	exon9			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.1059T>C	4.37:g.151835449A>G		Somatic		Capture	SOLID	Phase_I	152054899	NM_001199282	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Silent	SNP	ENST00000357115.3	37	CCDS3773.1																																																																																				0.358	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		
DCHS2	54798	hgsc.bcm.edu	37	4	155157992	155157992	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:155157992G>T	ENST00000357232.4	-	25	6446	c.6447C>A	c.(6445-6447)ttC>ttA	p.F2149L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2149	Cadherin 19. {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.F2149L(2)		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)		CTGAATGAAAGAACTTAGTTT	0.393																																					p.F2149L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C6447A	4						.						91.0	90.0	90.0					4																	155157992		2203	4300	6503	155377442	SO:0001583	missense	54798	exon25			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.6447C>A	4.37:g.155157992G>T	ENSP00000349768:p.Phe2149Leu	Somatic		Capture	SOLID	Phase_I	155377442	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.833508	0.00579	.	.	ENSG00000197410	ENST00000357232	T	0.50277	0.75	5.95	-5.21	0.02815	Cadherin (4);Cadherin-like (1);	0.984952	0.08291	N	0.968465	T	0.14570	0.0352	N	0.03917	-0.325	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29243	-1.0018	10	0.05620	T	0.96	.	2.6625	0.05031	0.4253:0.0754:0.2754:0.2239	.	2149	Q6V1P9	PCD23_HUMAN	L	2149	ENSP00000349768:F2149L	ENSP00000349768:F2149L	F	-	3	2	DCHS2	155377442	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-1.046000	0.03525	-0.588000	0.05882	0.563000	0.77884	TTC		0.393	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
FGG	2266	hgsc.bcm.edu	37	4	155529705	155529705	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:155529705C>T	ENST00000336098.3	-	7	802	c.764G>A	c.(763-765)gGa>gAa	p.G255E	FGG_ENST00000404648.3_Missense_Mutation_p.G255E|FGG_ENST00000405164.1_Missense_Mutation_p.G263E|FGG_ENST00000407946.1_Missense_Mutation_p.G263E	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	255	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.G255E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTTCTCATTTCCCAGCCAAAA	0.403																																					p.G255E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G764A	4						.						106.0	100.0	102.0					4																	155529705		2203	4300	6503	155749155	SO:0001583	missense	2266	exon7				CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.764G>A	4.37:g.155529705C>T	ENSP00000336829:p.Gly255Glu	Somatic		Capture	SOLID	Phase_I	155749155	NM_000509	A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	C	32	5.137868	0.94517	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	D;D;D;D	0.99878	-7.43;-7.43;-7.43;-7.43	5.87	5.87	0.94306	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.99941	0.9974	H	0.99074	4.42	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.96263	0.9192	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	152;263;255;263;255	D3DP16;C9JC84;P02679;C9JEU5;P02679-2	.;.;FIBG_HUMAN;.;.	E	255;263;255;263	ENSP00000384860:G255E;ENSP00000384101:G263E;ENSP00000336829:G255E;ENSP00000384552:G263E	ENSP00000336829:G255E	G	-	2	0	FGG	155749155	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.559000	0.82265	2.941000	0.99782	0.655000	0.94253	GGA		0.403	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870	
GLRB	2743	hgsc.bcm.edu	37	4	158091610	158091610	+	Silent	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:158091610T>G	ENST00000264428.4	+	10	1494	c.1224T>G	c.(1222-1224)gtT>gtG	p.V408V	GLRB_ENST00000509282.1_Silent_p.V408V|GLRB_ENST00000541722.1_3'UTR|GLRB_ENST00000512619.1_Missense_Mutation_p.F50C	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	408					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)	p.V408V(1)		central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	GCAAAAAAGTTTGTACTTCTA	0.328																																					p.V408V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1224G	4						.						64.0	67.0	66.0					4																	158091610		2203	4300	6503	158311060	SO:0001819	synonymous_variant	2743	exon10			U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.1224T>G	4.37:g.158091610T>G		Somatic		Capture	SOLID	Phase_I	158311060	NM_001166060	A8K3K2|D3DP23|F5GWE1	Silent	SNP	ENST00000264428.4	37	CCDS3796.1	.	.	.	.	.	.	.	.	.	.	T	9.302	1.053283	0.19907	.	.	ENSG00000109738	ENST00000512619	.	.	.	6.06	3.65	0.41850	.	.	.	.	.	T	0.60586	0.2280	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62101	-0.6925	5	0.87932	D	0	.	5.0713	0.14608	0.0:0.1439:0.3213:0.5348	.	.	.	.	C	50	.	ENSP00000425433:F50C	F	+	2	0	GLRB	158311060	0.954000	0.32549	1.000000	0.80357	0.993000	0.82548	0.006000	0.13152	1.069000	0.40788	0.528000	0.53228	TTT		0.328	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	NM_000824	
NPY5R	4889	hgsc.bcm.edu	37	4	164272079	164272079	+	Silent	SNP	T	T	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:164272079T>C	ENST00000515560.1	+	4	2176	c.654T>C	c.(652-654)gtT>gtC	p.V218V	NPY5R_ENST00000338566.3_Silent_p.V218V|NPY5R_ENST00000506953.1_Silent_p.V218V			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	218					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.V218V(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TATTGCTAGTTCAGTATATTC	0.373																																					p.V218V	Melanoma(139;1287 1774 9781 19750 25599)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T654C	4						.						106.0	97.0	100.0					4																	164272079		2203	4300	6503	164491529	SO:0001819	synonymous_variant	4889	exon4			BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.654T>C	4.37:g.164272079T>C		Somatic		Capture	SOLID	Phase_I	164491529	NM_006174	Q6GTR7|Q92916	Silent	SNP	ENST00000515560.1	37	CCDS3804.1																																																																																				0.373	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174	
ANXA10	11199	hgsc.bcm.edu	37	4	169102845	169102845	+	Nonsense_Mutation	SNP	C	C	T	rs374810057		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:169102845C>T	ENST00000359299.3	+	10	922	c.736C>T	c.(736-738)Cga>Tga	p.R246*		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	246						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.R246*(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		TCTCTGTGTTCGAGACAAACC	0.313																																					p.R246X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C736T	4						.	C	stop/ARG	1,4401	2.1+/-5.4	0,1,2200	156.0	158.0	157.0		736	4.0	1.0	4		157	0,8598		0,0,4299	no	stop-gained	ANXA10	NM_007193.4		0,1,6499	TT,TC,CC		0.0,0.0227,0.0077		246/325	169102845	1,12999	2201	4299	6500	169339420	SO:0001587	stop_gained	11199	exon10			AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"""Annexins"""	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.736C>T	4.37:g.169102845C>T	ENSP00000352248:p.Arg246*	Somatic		Capture	SOLID	Phase_I	169339420	NM_007193	Q96IQ5|Q9UJV4	Nonsense_Mutation	SNP	ENST00000359299.3	37	CCDS34096.1	.	.	.	.	.	.	.	.	.	.	C	38	6.716203	0.97784	2.27E-4	0.0	ENSG00000109511	ENST00000359299;ENST00000393751	.	.	.	5.82	4.0	0.46444	.	0.234277	0.30383	N	0.009746	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8534	0.24028	0.1312:0.6721:0.1269:0.0697	.	.	.	.	X	246	.	ENSP00000352248:R246X	R	+	1	2	ANXA10	169339420	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	2.759000	0.47573	1.459000	0.47892	0.655000	0.94253	CGA		0.313	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364348.2	NM_007193	
GALNTL6	442117	hgsc.bcm.edu	37	4	173804051	173804051	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:173804051C>A	ENST00000506823.1	+	8	1691	c.1034C>A	c.(1033-1035)tCt>tAt	p.S345Y	GALNTL6_ENST00000508122.1_Missense_Mutation_p.S328Y	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	345	Catalytic subdomain B.				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.S345Y(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TATGAAATCTCTTTTAAGGTA	0.428																																					p.S345Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1034A	4						.						118.0	122.0	120.0					4																	173804051		2203	4300	6503	174040626	SO:0001583	missense	442117	exon8				CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.1034C>A	4.37:g.173804051C>A	ENSP00000423313:p.Ser345Tyr	Somatic		Capture	SOLID	Phase_I	174040626	NM_001034845	Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590931	0.86851	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	T;T	0.60299	0.2;0.2	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000002	D	0.85478	0.5706	H	0.97635	4.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90556	0.4512	10	0.87932	D	0	.	19.2983	0.94132	0.0:1.0:0.0:0.0	.	345	Q49A17	GLTL6_HUMAN	Y	345;328	ENSP00000423313:S345Y;ENSP00000423827:S328Y	ENSP00000423313:S345Y	S	+	2	0	GALNTL6	174040626	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.625000	0.83145	2.567000	0.86603	0.462000	0.41574	TCT		0.428	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845	
GLRA3	8001	hgsc.bcm.edu	37	4	175649721	175649721	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:175649721G>T	ENST00000274093.3	-	4	898	c.396C>A	c.(394-396)ttC>ttA	p.F132L	GLRA3_ENST00000436738.1_5'UTR|GLRA3_ENST00000340217.5_Missense_Mutation_p.F132L	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	132					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.F132L(2)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	CATTGGCAAAGAACAAATCAG	0.408																																					p.F132L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C396A	4						.						119.0	125.0	123.0					4																	175649721		2203	4300	6503	175886296	SO:0001583	missense	8001	exon4			AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.396C>A	4.37:g.175649721G>T	ENSP00000274093:p.Phe132Leu	Somatic		Capture	SOLID	Phase_I	175886296	NM_001042543	D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	ENST00000274093.3	37	CCDS3822.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799556	0.70567	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	T;T	0.79247	-1.25;-1.25	4.65	4.65	0.58169	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.87160	0.6108	M	0.86502	2.82	0.50632	D	0.999889	D;D	0.63046	0.989;0.992	D;D	0.67900	0.923;0.954	D	0.88379	0.3000	10	0.87932	D	0	.	8.9265	0.35643	0.1677:0.0:0.8323:0.0	.	132;132	O75311-2;O75311	.;GLRA3_HUMAN	L	132	ENSP00000274093:F132L;ENSP00000345284:F132L	ENSP00000274093:F132L	F	-	3	2	GLRA3	175886296	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.590000	0.53979	2.300000	0.77407	0.557000	0.71058	TTC		0.408	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1		
GLRA3	8001	hgsc.bcm.edu	37	4	175649825	175649825	+	Missense_Mutation	SNP	G	G	A	rs368508904		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:175649825G>A	ENST00000274093.3	-	4	794	c.292C>T	c.(292-294)Cgt>Tgt	p.R98C	GLRA3_ENST00000436738.1_5'UTR|GLRA3_ENST00000340217.5_Missense_Mutation_p.R98C	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	98					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.R98C(1)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	CATTTCTGACGAAGAAAGATA	0.383																																					p.R98C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C292T	4						.	G	CYS/ARG,CYS/ARG	0,4404		0,0,2202	63.0	70.0	68.0		292,292	4.9	1.0	4		68	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	GLRA3	NM_001042543.1,NM_006529.2	180,180	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	98/450,98/465	175649825	1,12999	2202	4298	6500	175886400	SO:0001583	missense	8001	exon4			AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.292C>T	4.37:g.175649825G>A	ENSP00000274093:p.Arg98Cys	Somatic		Capture	SOLID	Phase_I	175886400	NM_001042543	D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	ENST00000274093.3	37	CCDS3822.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793797	0.90453	0.0	1.16E-4	ENSG00000145451	ENST00000274093;ENST00000340217	T;T	0.80566	-1.39;-1.39	4.86	4.86	0.63082	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.92489	0.7615	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.94467	0.7681	10	0.87932	D	0	.	18.3492	0.90331	0.0:0.0:1.0:0.0	.	98;98	O75311-2;O75311	.;GLRA3_HUMAN	C	98	ENSP00000274093:R98C;ENSP00000345284:R98C	ENSP00000274093:R98C	R	-	1	0	GLRA3	175886400	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	6.557000	0.73937	2.411000	0.81874	0.557000	0.71058	CGT		0.383	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1		
WDR17	116966	hgsc.bcm.edu	37	4	177052795	177052795	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:177052795C>A	ENST00000280190.4	+	8	1232	c.1076C>A	c.(1075-1077)tCt>tAt	p.S359Y	WDR17_ENST00000507824.2_Missense_Mutation_p.S342Y|WDR17_ENST00000508596.1_Missense_Mutation_p.S335Y|WDR17_ENST00000393643.2_Missense_Mutation_p.S335Y			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	359								p.S359Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CAAGCATTTTCTCTTCCTCCT	0.403																																					p.S359Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1076A	4						.						291.0	281.0	285.0					4																	177052795		2203	4300	6503	177289789	SO:0001583	missense	116966	exon8			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1076C>A	4.37:g.177052795C>A	ENSP00000280190:p.Ser359Tyr	Somatic		Capture	SOLID	Phase_I	177289789	NM_170710	E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.74|15.74	2.924056|2.924056	0.52653|0.52653	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000505894|ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.|T;T;T	.|0.60299	.|0.23;0.26;0.2	5.45|5.45	4.61|4.61	0.57282|0.57282	.|WD40 repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62925|0.62925	0.2468|0.2468	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.83275	.|0.996;0.996	T|T	0.68735|0.68735	-0.5330|-0.5330	5|10	.|0.87932	.|D	.|0	-16.1172|-16.1172	14.5002|14.5002	0.67716|0.67716	0.0:0.9294:0.0:0.0706|0.0:0.9294:0.0:0.0706	.|.	.|335;359	.|E7EQX0;Q8IZU2	.|.;WDR17_HUMAN	I|Y	108|335;335;359;342	.|ENSP00000422763:S335Y;ENSP00000377258:S335Y;ENSP00000280190:S359Y	.|ENSP00000280190:S359Y	L|S	+|+	1|2	0|0	WDR17|WDR17	177289789|177289789	1.000000|1.000000	0.71417|0.71417	0.922000|0.922000	0.36590|0.36590	0.041000|0.041000	0.13682|0.13682	5.456000|5.456000	0.66665|0.66665	1.449000|1.449000	0.47699|0.47699	-0.136000|-0.136000	0.14681|0.14681	CTC|TCT		0.403	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2		
EVC2	132884	hgsc.bcm.edu	37	4	5617152	5617152	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:5617152T>G	ENST00000344408.5	-	16	2879	c.2826A>C	c.(2824-2826)gaA>gaC	p.E942D	EVC2_ENST00000310917.2_Missense_Mutation_p.E862D|EVC2_ENST00000344938.1_Missense_Mutation_p.E942D	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	942					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E942D(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TACTGACCTTTTCCACCAGGT	0.522																																					p.E942D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2826C	4						.						140.0	131.0	134.0					4																	5617152		2203	4300	6503	5668053	SO:0001583	missense	132884	exon16			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2826A>C	4.37:g.5617152T>G	ENSP00000342144:p.Glu942Asp	Somatic		Capture	SOLID	Phase_I	5668053	NM_147127	Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	T	4.211	0.037875	0.08148	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.76968	-1.06;-1.06;-1.06	5.31	-4.89	0.03103	.	0.141075	0.47093	D	0.000245	T	0.55481	0.1923	N	0.19112	0.55	0.21064	N	0.999796	B	0.16166	0.016	B	0.12156	0.007	T	0.33523	-0.9865	10	0.21540	T	0.41	-11.6906	10.541	0.45033	0.0:0.661:0.2229:0.1161	.	942	Q86UK5	LBN_HUMAN	D	942;862;942	ENSP00000339954:E942D;ENSP00000311683:E862D;ENSP00000342144:E942D	ENSP00000311683:E862D	E	-	3	2	EVC2	5668053	0.853000	0.29707	0.051000	0.19133	0.066000	0.16364	-0.420000	0.07062	-1.673000	0.01462	-0.463000	0.05309	GAA		0.522	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127	
EVC2	132884	hgsc.bcm.edu	37	4	5624511	5624511	+	Missense_Mutation	SNP	G	G	A	rs532778814		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:5624511G>A	ENST00000344408.5	-	14	2307	c.2254C>T	c.(2254-2256)Cgg>Tgg	p.R752W	EVC2_ENST00000310917.2_Missense_Mutation_p.R672W|EVC2_ENST00000344938.1_Missense_Mutation_p.R752W	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	752					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R752W(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TGCAGGCGCCGCAGCTCGTCG	0.647													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16551	0.0		0.0	False		,,,				2504	0.0				p.R752W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2254T	4						.						50.0	48.0	49.0					4																	5624511		2203	4300	6503	5675412	SO:0001583	missense	132884	exon14			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2254C>T	4.37:g.5624511G>A	ENSP00000342144:p.Arg752Trp	Somatic		Capture	SOLID	Phase_I	5675412	NM_147127	Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750586	0.69533	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.74947	-0.89;-0.88;-0.89	5.32	1.16	0.20824	.	0.235349	0.34291	N	0.004084	T	0.76212	0.3956	L	0.54323	1.7	0.30951	N	0.724739	D	0.89917	1.0	D	0.67548	0.952	T	0.72064	-0.4403	10	0.72032	D	0.01	-27.5673	2.503	0.04638	0.0902:0.2251:0.3034:0.3813	.	752	Q86UK5	LBN_HUMAN	W	752;672;752	ENSP00000339954:R752W;ENSP00000311683:R672W;ENSP00000342144:R752W	ENSP00000311683:R672W	R	-	1	2	EVC2	5675412	0.999000	0.42202	1.000000	0.80357	0.925000	0.55904	0.294000	0.19047	0.576000	0.29452	0.462000	0.41574	CGG		0.647	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127	
EVC2	132884	hgsc.bcm.edu	37	4	5690908	5690908	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:5690908C>T	ENST00000344408.5	-	5	735	c.682G>A	c.(682-684)Gct>Act	p.A228T	EVC2_ENST00000310917.2_Missense_Mutation_p.A148T|EVC2_ENST00000344938.1_Missense_Mutation_p.A228T	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	228					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A228T(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TTGCTAAAAGCCTGGAATCCT	0.488																																					p.A228T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G682A	4						.						92.0	87.0	89.0					4																	5690908		2203	4300	6503	5741809	SO:0001583	missense	132884	exon5			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.682G>A	4.37:g.5690908C>T	ENSP00000342144:p.Ala228Thr	Somatic		Capture	SOLID	Phase_I	5741809	NM_147127	Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	0.076	-1.193051	0.01607	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.73152	-0.72;-0.7;-0.72	4.54	2.78	0.32641	.	0.207893	0.42821	D	0.000648	T	0.44891	0.1315	N	0.16903	0.455	0.23445	N	0.997663	B	0.18610	0.029	B	0.09377	0.004	T	0.26916	-1.0089	10	0.06236	T	0.91	-3.3386	6.5354	0.22350	0.0:0.7701:0.0:0.2299	.	228	Q86UK5	LBN_HUMAN	T	228;148;228	ENSP00000339954:A228T;ENSP00000311683:A148T;ENSP00000342144:A228T	ENSP00000311683:A148T	A	-	1	0	EVC2	5741809	0.994000	0.37717	0.996000	0.52242	0.195000	0.23768	0.904000	0.28491	0.460000	0.27045	0.561000	0.74099	GCT		0.488	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127	
EVC2	132884	hgsc.bcm.edu	37	4	5690974	5690974	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:5690974G>A	ENST00000344408.5	-	5	669	c.616C>T	c.(616-618)Ctg>Ttg	p.L206L	EVC2_ENST00000310917.2_Silent_p.L126L|EVC2_ENST00000344938.1_Silent_p.L206L	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	206					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L206L(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						ATGCTGTCCAGCAAGAGCAGC	0.522																																					p.L206L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C616T	4						.						116.0	99.0	105.0					4																	5690974		2203	4300	6503	5741875	SO:0001819	synonymous_variant	132884	exon5			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.616C>T	4.37:g.5690974G>A		Somatic		Capture	SOLID	Phase_I	5741875	NM_147127	Q86YT3|Q86YT4|Q8NG49	Silent	SNP	ENST00000344408.5	37	CCDS3382.2																																																																																				0.522	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127	
STIM2	57620	hgsc.bcm.edu	37	4	27019558	27019558	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:27019558G>A	ENST00000467011.1	+	11	2140	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	STIM2_ENST00000382009.3_Missense_Mutation_p.R667Q|STIM2_ENST00000465503.1_Missense_Mutation_p.R580Q|STIM2_ENST00000412829.2_Missense_Mutation_p.R659Q|STIM2_ENST00000467087.1_Missense_Mutation_p.R572Q|STIM2_ENST00000237364.5_Missense_Mutation_p.R659Q	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	572					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)	p.R659Q(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				GCGCTTTATCGAAATGAAGAG	0.522																																					p.R572Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1715A	4						.						286.0	278.0	281.0					4																	27019558		2203	4300	6503	26628656	SO:0001583	missense	57620	exon11			AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.1715G>A	4.37:g.27019558G>A	ENSP00000419383:p.Arg572Gln	Somatic		Capture	SOLID	Phase_I	26628656	NM_001169117	A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Missense_Mutation	SNP	ENST00000467011.1	37	CCDS54752.1	.	.	.	.	.	.	.	.	.	.	G	35	5.419534	0.96111	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503;ENST00000473519;ENST00000477474	T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.58221	0.2107	L	0.40543	1.245	0.58432	D	0.999997	D;D;D;D	0.76494	0.997;0.999;0.999;0.999	D;D;D;D	0.77557	0.968;0.978;0.978;0.99	T	0.60188	-0.7312	10	0.66056	D	0.02	.	18.9976	0.92819	0.0:0.0:1.0:0.0	.	572;659;667;659	Q9P246;A6H8L7;E9PGD0;F5GXJ4	STIM2_HUMAN;.;.;.	Q	572;667;659;572;659;580;280;174	ENSP00000419073:R572Q;ENSP00000371439:R667Q;ENSP00000237364:R659Q;ENSP00000419383:R572Q;ENSP00000404812:R659Q;ENSP00000417569:R580Q;ENSP00000420113:R280Q;ENSP00000419536:R174Q	ENSP00000237364:R659Q	R	+	2	0	STIM2	26628656	1.000000	0.71417	0.977000	0.42913	0.980000	0.70556	4.993000	0.63895	2.483000	0.83821	0.460000	0.39030	CGA		0.522	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860	
TLR10	81793	hgsc.bcm.edu	37	4	38775307	38775307	+	Silent	SNP	G	G	A	rs537690452	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:38775307G>A	ENST00000308973.4	-	4	2510	c.1905C>T	c.(1903-1905)caC>caT	p.H635H	TLR10_ENST00000508334.1_Silent_p.H635H|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000506111.1_Silent_p.H635H|TLR10_ENST00000361424.2_Silent_p.H635H	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	635	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.H635H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						AAATAAATGCGTGGAATCGGA	0.418													G|||	3	0.000599042	0.0	0.0	5008	,	,		21222	0.0		0.0	False		,,,				2504	0.0031				p.H635H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1905T	4						.						129.0	122.0	124.0					4																	38775307		2203	4300	6503	38451702	SO:0001819	synonymous_variant	81793	exon2			AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.1905C>T	4.37:g.38775307G>A		Somatic		Capture	SOLID	Phase_I	38451702	NM_001017388	A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Silent	SNP	ENST00000308973.4	37	CCDS3445.1																																																																																				0.418	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1		
RHOH	399	hgsc.bcm.edu	37	4	40245120	40245120	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:40245120C>T	ENST00000381799.5	+	3	838	c.114C>T	c.(112-114)taC>taT	p.Y38Y	RHOH_ENST00000505618.1_Silent_p.Y38Y	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	38					mast cell activation (GO:0045576)|negative regulation of catalytic activity (GO:0043086)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of phosphorylation (GO:0042326)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase inhibitor activity (GO:0005095)|kinase inhibitor activity (GO:0019210)|Rho GTPase binding (GO:0017048)	p.Y38Y(1)		kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						CCACAGTGTACGAGAACACAG	0.602																																					p.Y38Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C114T	4						.						151.0	121.0	131.0					4																	40245120		2203	4300	6503	39921515	SO:0001819	synonymous_variant	399	exon3			Z35227	CCDS3458.1	4p13	2014-09-17	2012-02-27	2004-03-24	ENSG00000168421	ENSG00000168421			686	protein-coding gene	gene with protein product		602037	"""ras homolog gene family, member H"""	ARHH		7784061	Standard	NM_001278359		Approved	RhoH, TTF	uc003guz.2	Q15669	OTTHUMG00000099373	ENST00000381799.5:c.114C>T	4.37:g.40245120C>T		Somatic		Capture	SOLID	Phase_I	39921515	NM_004310		Silent	SNP	ENST00000381799.5	37	CCDS3458.1																																																																																				0.602	RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216820.3	NM_004310	
CORIN	10699	hgsc.bcm.edu	37	4	47647099	47647099	+	Splice_Site	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:47647099G>A	ENST00000273857.4	-	14	1955	c.1956C>T	c.(1954-1956)tgC>tgT	p.C652C	CORIN_ENST00000505909.1_Splice_Site_p.C615C|CORIN_ENST00000502252.1_Splice_Site_p.C585C|CORIN_ENST00000508498.1_Splice_Site_p.C513C|CORIN_ENST00000504584.1_Splice_Site_p.C615C	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	652	LDL-receptor class A 6. {ECO:0000255|PROSITE-ProRule:PRU00124}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.C652C(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGCACTTACAGCAGTTTTTCT	0.378																																					p.C652C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1956T	4						.						140.0	133.0	135.0					4																	47647099		2203	4300	6503	47341856	SO:0001630	splice_region_variant	10699	exon14			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1957+1C>T	4.37:g.47647099G>A		Somatic		Capture	SOLID	Phase_I	47341856	NM_006587	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP	ENST00000273857.4	37	CCDS3477.1																																																																																				0.378	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2		Silent
KDR	3791	hgsc.bcm.edu	37	4	55956220	55956220	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:55956220C>T	ENST00000263923.4	-	23	3390	c.3095G>A	c.(3094-3096)cGa>cAa	p.R1032Q	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1032	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R1032Q(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAGGATATTTCGTGCCGCCAG	0.448			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																											p.R1032Q			Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G3095A	4						.						90.0	87.0	88.0					4																	55956220		2203	4300	6503	55650977	SO:0001583	missense	3791	exon23			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3095G>A	4.37:g.55956220C>T	ENSP00000263923:p.Arg1032Gln	Somatic		Capture	SOLID	Phase_I	55650977	NM_002253	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	36	5.619796	0.96660	.	.	ENSG00000128052	ENST00000263923	D	0.87334	-2.24	5.32	5.32	0.75619	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92309	0.7560	L	0.55017	1.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92764	0.6226	10	0.87932	D	0	.	19.3592	0.94428	0.0:1.0:0.0:0.0	.	1032	P35968	VGFR2_HUMAN	Q	1032	ENSP00000263923:R1032Q	ENSP00000263923:R1032Q	R	-	2	0	KDR	55650977	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.776000	0.85560	2.640000	0.89533	0.563000	0.77884	CGA		0.448	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		
CABS1	85438	hgsc.bcm.edu	37	4	71201477	71201477	+	Missense_Mutation	SNP	G	G	A	rs540614090		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:71201477G>A	ENST00000273936.5	+	1	795	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	241					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)	p.E241K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GAAAATAACCGAAATTGACCT	0.423																																					p.E241K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G721A	4						.						104.0	104.0	104.0					4																	71201477		2203	4300	6503	71236066	SO:0001583	missense	85438	exon1			AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"""casein-like phosphoprotein"""		"""chromosome 4 open reading frame 35"""	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.721G>A	4.37:g.71201477G>A	ENSP00000273936:p.Glu241Lys	Somatic		Capture	SOLID	Phase_I	71236066	NM_033122	B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	G	0.635	-0.815523	0.02776	.	.	ENSG00000145309	ENST00000273936	T	0.27557	1.66	4.57	1.83	0.25207	.	0.536026	0.15620	N	0.252931	T	0.18425	0.0442	N	0.20986	0.625	0.09310	N	1	B	0.13594	0.008	B	0.15052	0.012	T	0.27839	-1.0062	10	0.19147	T	0.46	-12.8489	9.5809	0.39488	0.2633:0.0:0.7367:0.0	.	241	Q96KC9	CABS1_HUMAN	K	241	ENSP00000273936:E241K	ENSP00000273936:E241K	E	+	1	0	CABS1	71236066	0.998000	0.40836	0.700000	0.30305	0.004000	0.04260	0.365000	0.20348	0.007000	0.14760	-0.797000	0.03246	GAA		0.423	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122	
ADAMTS3	9508	hgsc.bcm.edu	37	4	73179461	73179461	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:73179461A>C	ENST00000286657.4	-	12	1714	c.1678T>G	c.(1678-1680)Ttt>Gtt	p.F560V		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	560	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.F560V(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAGGAGCCAAATTTAGTCCAT	0.408																																					p.F560V	NSCLC(168;1941 2048 2918 13048 43078)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1678G	4						.						140.0	108.0	119.0					4																	73179461		2203	4300	6503	73398325	SO:0001583	missense	9508	exon12			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.1678T>G	4.37:g.73179461A>C	ENSP00000286657:p.Phe560Val	Somatic		Capture	SOLID	Phase_I	73398325	NM_014243	A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.495773	0.85069	.	.	ENSG00000156140	ENST00000286657	T	0.52057	0.68	6.02	4.81	0.61882	.	0.251301	0.36303	N	0.002666	T	0.62780	0.2456	M	0.71581	2.175	0.58432	D	0.999991	D	0.56746	0.977	P	0.59012	0.85	T	0.66340	-0.5948	10	0.87932	D	0	.	12.5647	0.56304	0.8753:0.0:0.0:0.1247	.	560	O15072	ATS3_HUMAN	V	560	ENSP00000286657:F560V	ENSP00000286657:F560V	F	-	1	0	ADAMTS3	73398325	1.000000	0.71417	0.949000	0.38748	0.769000	0.43574	7.518000	0.81795	1.056000	0.40484	0.528000	0.53228	TTT		0.408	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2		
CXCL9	4283	hgsc.bcm.edu	37	4	76924829	76924829	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:76924829C>A	ENST00000264888.5	-	4	338	c.300G>T	c.(298-300)aaG>aaT	p.K100N	RP11-630D6.5_ENST00000501239.2_RNA	NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	100					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|defense response (GO:0006952)|defense response to virus (GO:0051607)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|regulation of cell proliferation (GO:0042127)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|cytokine activity (GO:0005125)	p.K100N(1)		large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTTTCCCATTCTTTTGCTTTT	0.353																																					p.K100N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G300T	4						.						131.0	124.0	127.0					4																	76924829		2202	4299	6501	77143853	SO:0001583	missense	4283	exon4			X72755	CCDS34014.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000138755		"""Endogenous ligands"""	7098	protein-coding gene	gene with protein product		601704	"""monokine induced by gamma interferon"""	CMK, MIG		8476424, 9730616	Standard	NM_002416		Approved	SCYB9, Humig, crg-10	uc003hjh.1	Q07325		ENST00000264888.5:c.300G>T	4.37:g.76924829C>A	ENSP00000354901:p.Lys100Asn	Somatic		Capture	SOLID	Phase_I	77143853	NM_002416	Q503B4	Missense_Mutation	SNP	ENST00000264888.5	37	CCDS34014.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599566	0.46318	.	.	ENSG00000138755	ENST00000264888	T	0.56103	0.48	5.35	1.7	0.24286	.	0.322034	0.22682	N	0.056933	T	0.35828	0.0945	L	0.34521	1.04	0.33823	D	0.629303	B	0.24533	0.105	B	0.22880	0.042	T	0.38628	-0.9652	10	0.72032	D	0.01	-0.0026	4.5609	0.12160	0.0:0.5789:0.1611:0.2601	.	100	Q07325	CXCL9_HUMAN	N	100	ENSP00000354901:K100N	ENSP00000354901:K100N	K	-	3	2	CXCL9	77143853	0.535000	0.26370	0.999000	0.59377	0.991000	0.79684	-0.244000	0.08903	0.479000	0.27511	0.655000	0.94253	AAG		0.353	CXCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362819.1		
GK2	2712	hgsc.bcm.edu	37	4	80329052	80329052	+	Missense_Mutation	SNP	G	G	T	rs369519445		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:80329052G>T	ENST00000358842.3	-	1	320	c.303C>A	c.(301-303)gaC>gaA	p.D101E		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	288					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)	p.D101E(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CTGTTAACTTGTCCCAGATTA	0.408																																					p.D101E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C303A	4						.						169.0	163.0	165.0					4																	80329052		2203	4300	6503	80548076	SO:0001583	missense	2712	exon1			BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.303C>A	4.37:g.80329052G>T	ENSP00000351706:p.Asp101Glu	Somatic		Capture	SOLID	Phase_I	80548076	NM_033214	Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.097405	0.37048	.	.	ENSG00000196475	ENST00000358842	T	0.67345	-0.26	3.76	2.92	0.33932	Carbohydrate kinase, FGGY, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77123	0.4084	M	0.73372	2.23	0.58432	D	0.999999	D	0.76494	0.999	D	0.91635	0.999	T	0.75516	-0.3290	10	0.39692	T	0.17	-0.0312	9.6525	0.39906	0.1054:0.0:0.8946:0.0	.	101	Q14410	GLPK2_HUMAN	E	101	ENSP00000351706:D101E	ENSP00000351706:D101E	D	-	3	2	GK2	80548076	1.000000	0.71417	0.996000	0.52242	0.116000	0.19942	4.762000	0.62250	1.192000	0.43071	0.585000	0.79938	GAC		0.408	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214	
BMP3	651	hgsc.bcm.edu	37	4	81967190	81967190	+	Silent	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:81967190C>A	ENST00000282701.2	+	2	935	c.615C>A	c.(613-615)ctC>ctA	p.L205L		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	205			L -> F (in dbSNP:rs6831040). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15815621, ECO:0000269|PubMed:3201241}.		cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)	p.L205L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TCACTCAACTCTTGAGGAAGG	0.448																																					p.L205L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C615A	4						.						121.0	132.0	128.0					4																	81967190		2203	4300	6503	82186214	SO:0001819	synonymous_variant	651	exon2			M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.615C>A	4.37:g.81967190C>A		Somatic		Capture	SOLID	Phase_I	82186214	NM_001201	Q4VAS5	Silent	SNP	ENST00000282701.2	37	CCDS3588.1																																																																																				0.448	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1		
CDS1	1040	hgsc.bcm.edu	37	4	85555013	85555013	+	Missense_Mutation	SNP	G	G	A	rs113432734		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:85555013G>A	ENST00000295887.5	+	7	1066	c.643G>A	c.(643-645)Gca>Aca	p.A215T		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	0					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.A215T(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		TTAACAGTTCGCATGGACTCA	0.393																																					p.A215T												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G643A	4						.						152.0	128.0	137.0					4																	85555013		2203	4300	6503	85774037	SO:0001583	missense	1040	exon7			U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.643G>A	4.37:g.85555013G>A	ENSP00000295887:p.Ala215Thr	Somatic		Capture	SOLID	Phase_I	85774037	NM_001263	A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000295887.5	37	CCDS3608.1	.	.	.	.	.	.	.	.	.	.	G	34	5.400332	0.96030	.	.	ENSG00000163624	ENST00000295887	T	0.50277	0.75	5.96	5.96	0.96718	.	0.148799	0.64402	D	0.000011	T	0.60805	0.2297	L	0.35854	1.095	0.80722	D	1	D	0.76494	0.999	D	0.67382	0.951	T	0.55192	-0.8179	10	0.40728	T	0.16	-14.4943	20.394	0.98981	0.0:0.0:1.0:0.0	.	215	Q92903	CDS1_HUMAN	T	215	ENSP00000295887:A215T	ENSP00000295887:A215T	A	+	1	0	CDS1	85774037	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.830000	0.97506	0.585000	0.79938	GCA		0.393	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252817.2		
IBSP	3381	hgsc.bcm.edu	37	4	88731760	88731760	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:88731760G>T	ENST00000226284.5	+	6	316	c.249G>T	c.(247-249)gaG>gaT	p.E83D		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	83	Asp/Glu-rich (acidic).|Poly-Glu.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)		p.E83D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		TTTAACAGGAGACTTCAAATG	0.348																																					p.E83D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G249T	4						.						58.0	62.0	61.0					4																	88731760		2203	4300	6503	88950784	SO:0001583	missense	3381	exon6				CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.249G>T	4.37:g.88731760G>T	ENSP00000226284:p.Glu83Asp	Somatic		Capture	SOLID	Phase_I	88950784	NM_004967		Missense_Mutation	SNP	ENST00000226284.5	37	CCDS3624.1	.	.	.	.	.	.	.	.	.	.	G	8.188	0.795433	0.16327	.	.	ENSG00000029559	ENST00000226284	T	0.14022	2.54	5.35	2.66	0.31614	.	0.336949	0.27437	N	0.019363	T	0.20981	0.0505	M	0.71581	2.175	0.24276	N	0.995222	P	0.39157	0.662	P	0.47673	0.554	T	0.04400	-1.0954	10	0.34782	T	0.22	.	7.0122	0.24869	0.2791:0.0:0.7209:0.0	.	83	P21815	SIAL_HUMAN	D	83	ENSP00000226284:E83D	ENSP00000226284:E83D	E	+	3	2	IBSP	88950784	1.000000	0.71417	1.000000	0.80357	0.162000	0.22319	1.407000	0.34657	0.750000	0.32877	-0.218000	0.12543	GAG		0.348	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2		
MEPE	56955	hgsc.bcm.edu	37	4	88767420	88767420	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:88767420G>A	ENST00000424957.3	+	4	1473	c.1400G>A	c.(1399-1401)aGa>aAa	p.R467K	MEPE_ENST00000560249.1_Missense_Mutation_p.R354K|MEPE_ENST00000497649.2_Missense_Mutation_p.R443K|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_Missense_Mutation_p.R354K|MEPE_ENST00000395102.4_Missense_Mutation_p.R498K|MEPE_ENST00000361056.3_Missense_Mutation_p.R467K	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	467					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.R467K(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		ACACATGGCAGAAAATATCAT	0.433																																					p.R354K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1061A	4						.						65.0	65.0	65.0					4																	88767420		2203	4300	6503	88986444	SO:0001583	missense	56955	exon5			AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.1400G>A	4.37:g.88767420G>A	ENSP00000416984:p.Arg467Lys	Somatic		Capture	SOLID	Phase_I	88986444	NM_001184696	A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	CCDS3625.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688408	0.68271	.	.	ENSG00000152595	ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.56776	0.45;0.47;0.44;0.45;0.45	4.07	4.07	0.47477	.	0.705291	0.12344	N	0.477206	T	0.69387	0.3105	M	0.85299	2.745	0.09310	N	1	D	0.63880	0.993	P	0.56127	0.792	T	0.61549	-0.7040	10	0.62326	D	0.03	-8.7776	11.9548	0.52974	0.0:0.0:1.0:0.0	.	467	Q9NQ76	MEPE_HUMAN	K	467;498;443;354;467	ENSP00000416984:R467K;ENSP00000378534:R498K;ENSP00000422747:R443K;ENSP00000443491:R354K;ENSP00000354341:R467K	ENSP00000354341:R467K	R	+	2	0	MEPE	88986444	0.081000	0.21417	0.007000	0.13788	0.156000	0.22039	2.990000	0.49401	2.275000	0.75901	0.563000	0.77884	AGA		0.433	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1		
PKD2	5311	hgsc.bcm.edu	37	4	88979234	88979234	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:88979234C>A	ENST00000508588.1	+	4	647	c.252C>A	c.(250-252)ttC>ttA	p.F84L	PKD2_ENST00000237596.2_Missense_Mutation_p.F666L|PKD2_ENST00000502363.1_Missense_Mutation_p.F84L|PKD2_ENST00000511337.1_Intron			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.F666L(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)		CATTTGTGTTCTTTATGTTCT	0.333																																					p.F666L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1998A	4	GRCh37	CD034349	PKD2	D		.						230.0	193.0	205.0					4																	88979234		2203	4298	6501	89198258	SO:0001583	missense	5311	exon9			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.252C>A	4.37:g.88979234C>A	ENSP00000427131:p.Phe84Leu	Somatic		Capture	SOLID	Phase_I	89198258	NM_000297	Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000508588.1	37		.	.	.	.	.	.	.	.	.	.	C	17.15	3.316432	0.60524	.	.	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	T;T;T	0.71222	-0.55;-0.55;-0.55	5.47	5.47	0.80525	Polycystin cation channel, PKD1/PKD2 (1);	0.044110	0.85682	D	0.000000	T	0.67429	0.2892	L	0.48935	1.535	0.80722	D	1	P	0.35433	0.501	B	0.40565	0.333	T	0.67550	-0.5642	10	0.44086	T	0.13	-20.3529	12.6507	0.56759	0.0:0.9243:0.0:0.0757	.	666	Q13563	PKD2_HUMAN	L	666;84;84	ENSP00000237596:F666L;ENSP00000427131:F84L;ENSP00000425289:F84L	ENSP00000237596:F666L	F	+	3	2	PKD2	89198258	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.857000	0.62939	2.570000	0.86706	0.585000	0.79938	TTC		0.333	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297	
HERC5	51191	hgsc.bcm.edu	37	4	89393635	89393635	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:89393635G>T	ENST00000264350.3	+	11	1527	c.1374G>T	c.(1372-1374)aaG>aaT	p.K458N	HERC5_ENST00000508159.1_Missense_Mutation_p.K96N	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	458					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.K458N(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TAACCCAAAAGGACTGGATTA	0.299																																					p.K458N	Esophageal Squamous(39;887 1012 34045 50514)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1374T	4						.						124.0	135.0	131.0					4																	89393635		2203	4297	6500	89612658	SO:0001583	missense	51191	exon11			AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.1374G>T	4.37:g.89393635G>T	ENSP00000264350:p.Lys458Asn	Somatic		Capture	SOLID	Phase_I	89612658	NM_016323	B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	G	9.290	1.050494	0.19827	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.37752	1.18;1.24	4.57	0.892	0.19230	.	0.187248	0.36234	N	0.002704	T	0.23965	0.0580	L	0.51422	1.61	0.25732	N	0.985253	B	0.02656	0.0	B	0.10450	0.005	T	0.14172	-1.0482	10	0.18710	T	0.47	.	3.3073	0.07005	0.2946:0.0:0.5227:0.1827	.	458	Q9UII4	HERC5_HUMAN	N	458;96	ENSP00000264350:K458N;ENSP00000424129:K96N	ENSP00000264350:K458N	K	+	3	2	HERC5	89612658	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.656000	0.37355	0.268000	0.21939	-0.150000	0.13652	AAG		0.299	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323	
TSPAN5	10098	hgsc.bcm.edu	37	4	99403231	99403231	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:99403231G>T	ENST00000305798.3	-	4	777	c.375C>A	c.(373-375)ttC>ttA	p.F125L	TSPAN5_ENST00000509168.1_5'UTR|TSPAN5_ENST00000505184.1_Missense_Mutation_p.F54L	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	125					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)	p.F125L(1)		kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		TGTTTATAAAGAAATACAGCT	0.378																																					p.F125L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C375A	4						.						128.0	132.0	131.0					4																	99403231		2203	4300	6503	99622254	SO:0001583	missense	10098	exon4				CCDS3646.1	4q22.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000168785	ENSG00000168785		"""Tetraspanins"""	17753	protein-coding gene	gene with protein product		613136	"""transmembrane 4 superfamily member 9"""	TM4SF9			Standard	NM_005723		Approved	Tspan-5, NET-4	uc003hub.3	P62079	OTTHUMG00000131008	ENST00000305798.3:c.375C>A	4.37:g.99403231G>T	ENSP00000307701:p.Phe125Leu	Somatic		Capture	SOLID	Phase_I	99622254	NM_005723	B2RDY2|O60628|O60746|Q6FHE5|Q9JLY1	Missense_Mutation	SNP	ENST00000305798.3	37	CCDS3646.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057151	0.36277	.	.	ENSG00000168785	ENST00000305798;ENST00000505184;ENST00000515287;ENST00000511651	D;D;D;T	0.86627	-2.15;-2.15;-2.15;-1.19	5.94	4.16	0.48862	Tetraspanin, EC2 domain (1);	0.088895	0.85682	D	0.000000	T	0.73505	0.3595	N	0.10809	0.05	0.54753	D	0.999989	B	0.02656	0.0	B	0.06405	0.002	T	0.63752	-0.6566	10	0.25106	T	0.35	.	10.6081	0.45406	0.16:0.0:0.84:0.0	.	125	P62079	TSN5_HUMAN	L	125;54;54;54	ENSP00000307701:F125L;ENSP00000423916:F54L;ENSP00000423504:F54L;ENSP00000426248:F54L	ENSP00000307701:F125L	F	-	3	2	TSPAN5	99622254	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.927000	0.40094	0.783000	0.33636	0.650000	0.86243	TTC		0.378	TSPAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253641.2	NM_005723	
CDKN2AIP	55602	hgsc.bcm.edu	37	4	184368393	184368393	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr4:184368393G>A	ENST00000504169.1	+	3	1763	c.1556G>A	c.(1555-1557)aGc>aAc	p.S519N	CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	519	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)	p.S519N(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TGTGGAAAAAGCAAAGAAAAT	0.373																																					p.S519N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1556A	4						.						98.0	103.0	101.0					4																	184368393		2203	4300	6503	184605387	SO:0001583	missense	55602	exon3			AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"""collaborates/cooperates with ARF (alternate reading frame) protein"""	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.1556G>A	4.37:g.184368393G>A	ENSP00000427108:p.Ser519Asn	Somatic		Capture	SOLID	Phase_I	184605387	NM_017632	Q8TBM5|Q9NYH0	Missense_Mutation	SNP	ENST00000504169.1	37	CCDS34110.1	.	.	.	.	.	.	.	.	.	.	G	9.128	1.010719	0.19277	.	.	ENSG00000168564	ENST00000504169	.	.	.	5.31	4.47	0.54385	Double-stranded RNA-binding (1);	0.163737	0.43260	D	0.000585	T	0.43500	0.1250	L	0.39898	1.24	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.32079	-0.9920	9	0.27785	T	0.31	-9.438	6.6331	0.22867	0.1658:0.1501:0.6841:0.0	.	519	Q9NXV6	CARF_HUMAN	N	519	.	ENSP00000427108:S519N	S	+	2	0	CDKN2AIP	184605387	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.697000	0.54764	1.483000	0.48342	-0.136000	0.14681	AGC		0.373	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	NM_017632	
IL1RL2	8808	hgsc.bcm.edu	37	2	102805692	102805692	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:102805692G>T	ENST00000264257.2	+	3	341	c.215G>T	c.(214-216)aGa>aTa	p.R72I	IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.R72I|IL1RL2_ENST00000441515.2_Intron	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	72	Ig-like C2-type 1.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)	p.R72I(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						ATACAGTCTAGAATTCACCAG	0.388																																					p.R72I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G215T	2						.						75.0	73.0	73.0					2																	102805692		2203	4300	6503	102172124	SO:0001583	missense	8808	exon3			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.215G>T	2.37:g.102805692G>T	ENSP00000264257:p.Arg72Ile	Somatic		Capture	SOLID	Phase_I	102172124	NM_003854	A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963759	0.74016	.	.	ENSG00000115598	ENST00000264257;ENST00000421464;ENST00000539491	T;T;T	0.47528	3.7;0.84;3.7	5.86	5.86	0.93980	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.062950	0.64402	D	0.000007	T	0.70098	0.3185	M	0.79258	2.445	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.72023	-0.4415	10	0.87932	D	0	.	16.0536	0.80779	0.0:0.0:1.0:0.0	.	72	Q9HB29	ILRL2_HUMAN	I	72	ENSP00000264257:R72I;ENSP00000387611:R72I;ENSP00000442184:R72I	ENSP00000264257:R72I	R	+	2	0	IL1RL2	102172124	0.997000	0.39634	0.484000	0.27391	0.630000	0.37929	5.091000	0.64505	2.937000	0.99478	0.650000	0.86243	AGA		0.388	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854	
GPR45	11250	hgsc.bcm.edu	37	2	105859265	105859265	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:105859265C>A	ENST00000258456.1	+	1	1066	c.950C>A	c.(949-951)tCc>tAc	p.S317Y		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	317						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S317Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TACCTCAAGTCCGTCTTCAAC	0.547																																					p.S317Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C950A	2						.						121.0	120.0	121.0					2																	105859265		2203	4300	6503	105225697	SO:0001583	missense	11250	exon1			AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.950C>A	2.37:g.105859265C>A	ENSP00000258456:p.Ser317Tyr	Somatic		Capture	SOLID	Phase_I	105225697	NM_007227	Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431323	0.83776	.	.	ENSG00000135973	ENST00000258456	T	0.79845	-1.31	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	0.134588	0.51477	D	0.000096	D	0.92097	0.7495	M	0.92122	3.275	0.58432	D	0.999993	D	0.89917	1.0	D	0.77557	0.99	D	0.93749	0.7057	10	0.87932	D	0	-14.2513	18.1657	0.89724	0.0:1.0:0.0:0.0	.	317	Q9Y5Y3	GPR45_HUMAN	Y	317	ENSP00000258456:S317Y	ENSP00000258456:S317Y	S	+	2	0	GPR45	105225697	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	5.832000	0.69337	2.696000	0.92011	0.456000	0.33151	TCC		0.547	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227	
SULT1C4	27233	hgsc.bcm.edu	37	2	108998302	108998302	+	Missense_Mutation	SNP	G	G	A	rs137946991		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:108998302G>A	ENST00000272452.2	+	2	580	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	SULT1C4_ENST00000409309.3_Missense_Mutation_p.R85Q	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	85					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)	p.R85Q(2)|p.R85L(1)		endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						ACTCATCAACGATTTCCTTTC	0.398																																					p.R85Q												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G254A	2						.	G	GLN/ARG	0,4406		0,0,2203	135.0	116.0	123.0		254	3.4	0.0	2	dbSNP_134	123	2,8598	2.2+/-6.3	0,2,4298	no	missense	SULT1C4	NM_006588.2	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	85/303	108998302	2,13004	2203	4300	6503	108364734	SO:0001583	missense	27233	exon2			AF055584	CCDS2077.1	2q12.3	2008-09-04	2007-03-16	2007-03-16	ENSG00000198075	ENSG00000198075		"""Sulfotransferases, cytosolic"""	11457	protein-coding gene	gene with protein product		608357	"""sulfotransferase family, cytosolic, 1C, member 2"""	SULT1C2		10783263, 9852044	Standard	NM_006588		Approved	SULT1C	uc002tea.1	O75897	OTTHUMG00000130958	ENST00000272452.2:c.254G>A	2.37:g.108998302G>A	ENSP00000272452:p.Arg85Gln	Somatic		Capture	SOLID	Phase_I	108364734	NM_006588	Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	ENST00000272452.2	37	CCDS2077.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706033	0.48412	0.0	2.33E-4	ENSG00000198075	ENST00000272452;ENST00000409309	D;D	0.83673	-1.75;-1.75	4.33	3.41	0.39046	Sulfotransferase domain (1);	0.335160	0.21862	N	0.068002	D	0.89413	0.6708	M	0.82323	2.585	0.09310	N	1	D;D;D	0.76494	0.992;0.999;0.998	P;D;P	0.77557	0.821;0.99;0.899	T	0.80153	-0.1501	10	0.72032	D	0.01	.	6.6557	0.22986	0.0909:0.0:0.7295:0.1796	.	85;85;85	Q08AS5;O75897;Q6PD90	.;ST1C4_HUMAN;.	Q	85	ENSP00000272452:R85Q;ENSP00000387225:R85Q	ENSP00000272452:R85Q	R	+	2	0	SULT1C4	108364734	0.954000	0.32549	0.012000	0.15200	0.203000	0.24098	4.499000	0.60380	1.110000	0.41699	0.609000	0.83330	CGA		0.398	SULT1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253561.1	NM_006588	
MALL	7851	hgsc.bcm.edu	37	2	110849336	110849336	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:110849336G>A	ENST00000272462.2	-	2	890	c.117C>T	c.(115-117)ttC>ttT	p.F39F	MALL_ENST00000427178.1_Intron	NM_005434.4	NP_005425.1	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	39	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cholesterol homeostasis (GO:0042632)	clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)		p.F39F(1)		kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		TCCAGACCAAGAACCCAAATA	0.463																																					p.F39F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C117T	2						.						79.0	74.0	75.0					2																	110849336		2202	4296	6498	110206625	SO:0001819	synonymous_variant	7851	exon2			U17077	CCDS2085.1	2q13	2008-02-05			ENSG00000144063	ENSG00000144063			6818	protein-coding gene	gene with protein product		602022				9326933	Standard	NM_005434		Approved	BENE	uc002tfk.3	Q13021	OTTHUMG00000131196	ENST00000272462.2:c.117C>T	2.37:g.110849336G>A		Somatic		Capture	SOLID	Phase_I	110206625	NM_005434	B3KWR6|Q9BTU0	Silent	SNP	ENST00000272462.2	37	CCDS2085.1																																																																																				0.463	MALL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253921.1	NM_005434	
PQLC3	130814	hgsc.bcm.edu	37	2	11315128	11315128	+	Silent	SNP	T	T	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:11315128T>C	ENST00000295083.3	+	6	685	c.510T>C	c.(508-510)gaT>gaC	p.D170D	PQLC3_ENST00000402361.1_3'UTR|PQLC3_ENST00000441908.2_Intron	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	170						integral component of membrane (GO:0016021)		p.D170D(1)		kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		CCACCAATGATTTTACAAGTA	0.348																																					p.D170D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T510C	2						.						219.0	199.0	205.0					2																	11315128		2203	4300	6503	11232579	SO:0001819	synonymous_variant	130814	exon6			BC027625	CCDS1679.1, CCDS62856.1, CCDS62857.1	2p25.1	2004-02-05	2005-07-19	2005-07-19	ENSG00000162976	ENSG00000162976			28503	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 22"""	C2orf22		12477932	Standard	NM_001282711		Approved	MGC33602	uc002rbc.3	Q8N755	OTTHUMG00000119055	ENST00000295083.3:c.510T>C	2.37:g.11315128T>C		Somatic		Capture	SOLID	Phase_I	11232579	NM_152391	B2R8K1|B4DWA4	Silent	SNP	ENST00000295083.3	37	CCDS1679.1																																																																																				0.348	PQLC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239266.4	NM_152391	
ACOXL	55289	hgsc.bcm.edu	37	2	111556653	111556653	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:111556653G>A	ENST00000389811.4	+	7	747	c.523G>A	c.(523-525)Gct>Act	p.A175T	ACOXL_ENST00000439055.1_Missense_Mutation_p.A175T|ACOXL_ENST00000340561.4_Missense_Mutation_p.A175T			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	175					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)	p.A175T(1)		kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						AGGAGTCACAGCTATTGATAT	0.507																																					p.A175T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G523A	2						.						184.0	149.0	160.0					2																	111556653		2203	4300	6503	111273124	SO:0001583	missense	55289	exon7				CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.523G>A	2.37:g.111556653G>A	ENSP00000374461:p.Ala175Thr	Somatic		Capture	SOLID	Phase_I	111273124	NM_001142807	A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Missense_Mutation	SNP	ENST00000389811.4	37		.	.	.	.	.	.	.	.	.	.	G	15.46	2.840580	0.51057	.	.	ENSG00000153093	ENST00000389811;ENST00000439055;ENST00000422487;ENST00000340561;ENST00000417074	D;D;D;D	0.98862	-5.19;-5.19;-5.19;-5.19	5.65	5.65	0.86999	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.272597	0.29775	N	0.011224	D	0.95220	0.8450	N	0.11560	0.145	0.30239	N	0.795208	P;P;B	0.39480	0.546;0.675;0.0	B;B;B	0.36666	0.115;0.23;0.003	D	0.93124	0.6527	10	0.40728	T	0.16	-15.3668	17.2181	0.86950	0.0:0.0:1.0:0.0	.	175;175;175	E9PB20;Q9NUZ1-2;Q9NUZ1	.;.;ACOXL_HUMAN	T	175;175;26;175;13	ENSP00000374461:A175T;ENSP00000407761:A175T;ENSP00000343717:A175T;ENSP00000387832:A13T	ENSP00000343717:A175T	A	+	1	0	ACOXL	111273124	0.430000	0.25538	0.285000	0.24819	0.364000	0.29643	2.624000	0.46444	2.665000	0.90641	0.650000	0.86243	GCT		0.507	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308	
CKAP2L	150468	hgsc.bcm.edu	37	2	113498458	113498458	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:113498458C>T	ENST00000302450.6	-	8	2027	c.1949G>A	c.(1948-1950)cGa>cAa	p.R650Q	NT5DC4_ENST00000327581.4_Intron|CKAP2L_ENST00000541405.1_Missense_Mutation_p.R485Q	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	650						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.R650Q(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CTTGGCTATTCGGGGTGTCGC	0.438																																					p.R650Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1949A	2						.						286.0	290.0	289.0					2																	113498458		2203	4300	6503	113214929	SO:0001583	missense	150468	exon8			AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1949G>A	2.37:g.113498458C>T	ENSP00000305204:p.Arg650Gln	Somatic		Capture	SOLID	Phase_I	113214929	NM_152515	A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	C	1.159	-0.644445	0.03531	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.21543	2.0;2.0	4.72	-2.27	0.06846	.	1.209050	0.05874	N	0.625204	T	0.06690	0.0171	N	0.01668	-0.77	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33727	-0.9857	10	0.22706	T	0.39	0.2061	5.1626	0.15070	0.0:0.3848:0.1641:0.4511	.	239;650	Q8IYA6-2;Q8IYA6	.;CKP2L_HUMAN	Q	485;650	ENSP00000438763:R485Q;ENSP00000305204:R650Q	ENSP00000305204:R650Q	R	-	2	0	CKAP2L	113214929	0.024000	0.19004	0.006000	0.13384	0.733000	0.41908	-0.122000	0.10627	-0.441000	0.07201	-0.238000	0.12139	CGA		0.438	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515	
TRIB2	28951	hgsc.bcm.edu	37	2	12880882	12880882	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:12880882G>A	ENST00000155926.4	+	3	2413	c.994G>A	c.(994-996)Gtc>Atc	p.V332I	TRIB2_ENST00000381465.2_Missense_Mutation_p.V196I	NM_021643.3	NP_067675.1			tribbles pseudokinase 2									p.V332I(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GGTGCCGGACGTCAACATGGA	0.512																																					p.V332I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G994A	2						.						80.0	73.0	75.0					2																	12880882		2203	4300	6503	12798333	SO:0001583	missense	28951	exon3			AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000155926.4:c.994G>A	2.37:g.12880882G>A	ENSP00000155926:p.Val332Ile	Somatic		Capture	SOLID	Phase_I	12798333	NM_021643		Missense_Mutation	SNP	ENST00000155926.4	37	CCDS1683.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311282	0.40895	.	.	ENSG00000071575	ENST00000155926;ENST00000381465	T;T	0.47528	0.89;0.84	5.94	5.94	0.96194	Protein kinase-like domain (1);	0.108696	0.64402	D	0.000007	T	0.34861	0.0912	N	0.24115	0.695	0.80722	D	1	P	0.34800	0.469	B	0.24394	0.053	T	0.12142	-1.0559	10	0.40728	T	0.16	-32.7978	19.354	0.94404	0.0:0.0:1.0:0.0	.	332	Q92519	TRIB2_HUMAN	I	332;196	ENSP00000155926:V332I;ENSP00000370874:V196I	ENSP00000155926:V332I	V	+	1	0	TRIB2	12798333	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.004000	0.88535	2.820000	0.97059	0.650000	0.86243	GTC		0.512	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207114.2	NM_021643	
MARCO	8685	hgsc.bcm.edu	37	2	119739202	119739202	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:119739202G>T	ENST00000327097.4	+	10	1006	c.871G>T	c.(871-873)Gct>Tct	p.A291S	MARCO_ENST00000541757.1_Missense_Mutation_p.A213S	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	291	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.A291S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CTTAGGTTTGGCTGGTTTTCC	0.438																																					p.A291S	GBM(8;18 374 7467 11269 32796)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G871T	2						.						71.0	76.0	74.0					2																	119739202		2202	4298	6500	119455672	SO:0001583	missense	8685	exon10			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.871G>T	2.37:g.119739202G>T	ENSP00000318916:p.Ala291Ser	Somatic		Capture	SOLID	Phase_I	119455672	NM_006770	B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272465	0.40194	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	T;T	0.16743	2.32;2.32	5.2	-2.04	0.07343	.	1.100210	0.06810	N	0.790245	T	0.16214	0.0390	L	0.42245	1.32	0.09310	N	0.999999	B	0.34181	0.44	B	0.38378	0.272	T	0.40664	-0.9551	9	.	.	.	.	8.7202	0.34436	0.1792:0.6116:0.2091:0.0	.	291	Q9UEW3	MARCO_HUMAN	S	291;291;213	ENSP00000318916:A291S;ENSP00000441769:A213S	.	A	+	1	0	MARCO	119455672	0.001000	0.12720	0.025000	0.17156	0.953000	0.61014	-0.623000	0.05546	-0.233000	0.09797	-0.305000	0.09177	GCT		0.438	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770	
CCNT2	905	hgsc.bcm.edu	37	2	135712173	135712173	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:135712173C>T	ENST00000264157.5	+	9	2178	c.2148C>T	c.(2146-2148)ttC>ttT	p.F716F	CCNT2_ENST00000295238.6_3'UTR|CCNT2_ENST00000537343.1_3'UTR	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	716					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.F716F(1)		endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		AAGACACATTCGACATGCTGG	0.398																																					p.F716F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2148T	2						.						91.0	84.0	86.0					2																	135712173		2203	4300	6503	135428643	SO:0001819	synonymous_variant	905	exon9			AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.2148C>T	2.37:g.135712173C>T		Somatic		Capture	SOLID	Phase_I	135428643	NM_058241	A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Silent	SNP	ENST00000264157.5	37	CCDS2174.1	.	.	.	.	.	.	.	.	.	.	C	2.113	-0.403196	0.04865	.	.	ENSG00000082258	ENST00000452521	.	.	.	5.58	3.79	0.43588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1693	0.54148	0.0:0.8614:0.0:0.1386	.	.	.	.	X	135	.	.	R	+	1	2	CCNT2	135428643	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.979000	0.49313	0.723000	0.32274	0.655000	0.94253	CGA		0.398	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254629.1	NM_058241	
MAP3K19	80122	hgsc.bcm.edu	37	2	135745499	135745499	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:135745499C>A	ENST00000375845.3	-	7	973	c.943G>T	c.(943-945)Gaa>Taa	p.E315*	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Nonsense_Mutation_p.E332*|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Nonsense_Mutation_p.E202*	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	315							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E315*(1)									TTGTTACATTCTTCTATTTCC	0.398																																					p.E315X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G943T	2						.						80.0	84.0	82.0					2																	135745499		2203	4300	6503	135461969	SO:0001587	stop_gained	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.943G>T	2.37:g.135745499C>A	ENSP00000365005:p.Glu315*	Somatic		Capture	SOLID	Phase_I	135461969	NM_025052	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Nonsense_Mutation	SNP	ENST00000375845.3	37	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	14.46	2.543000	0.45280	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	.	.	.	4.67	-3.24	0.05094	.	0.907103	0.09100	N	0.848641	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	6.3436	0.21337	0.1141:0.4826:0.0:0.4033	.	.	.	.	X	315;202;332	.	ENSP00000351140:E202X	E	-	1	0	YSK4	135461969	0.000000	0.05858	0.000000	0.03702	0.240000	0.25518	-0.706000	0.05047	-0.632000	0.05553	0.637000	0.83480	GAA		0.398	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052	
LCT	3938	hgsc.bcm.edu	37	2	136569917	136569917	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:136569917C>T	ENST00000264162.2	-	7	2327	c.2317G>A	c.(2317-2319)Gac>Aac	p.D773N	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	773	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.D773N(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TTGAAGTAGTCTACTCTTAAG	0.418																																					p.D773N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2317A	2						.						113.0	113.0	113.0					2																	136569917		2203	4300	6503	136286387	SO:0001583	missense	3938	exon7			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2317G>A	2.37:g.136569917C>T	ENSP00000264162:p.Asp773Asn	Somatic		Capture	SOLID	Phase_I	136286387	NM_002299	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	9.200	1.028281	0.19512	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.53640	0.61	5.56	0.554	0.17241	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.158975	0.56097	N	0.000034	T	0.32315	0.0825	L	0.41415	1.275	0.35958	D	0.834415	B	0.18610	0.029	B	0.24269	0.052	T	0.18493	-1.0335	10	0.18276	T	0.48	-7.7198	6.9544	0.24562	0.0:0.5768:0.2367:0.1864	.	773	P09848	LPH_HUMAN	N	773;205	ENSP00000264162:D773N	ENSP00000264162:D773N	D	-	1	0	LCT	136286387	0.011000	0.17503	0.771000	0.31576	0.788000	0.44548	0.250000	0.18235	-0.184000	0.10567	-0.955000	0.02649	GAC		0.418	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	
LRP1B	53353	hgsc.bcm.edu	37	2	141135791	141135791	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:141135791A>C	ENST00000389484.3	-	68	11567	c.10596T>G	c.(10594-10596)ttT>ttG	p.F3532L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3532	LDL-receptor class A 26. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.F3532L(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)		CATCACACCAAAACCTTGAAG	0.398										TSP Lung(27;0.18)																											p.F3532L	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T10596G	2						.						116.0	103.0	108.0					2																	141135791		2203	4300	6503	140852261	SO:0001583	missense	53353	exon68			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.10596T>G	2.37:g.141135791A>C	ENSP00000374135:p.Phe3532Leu	Somatic		Capture	SOLID	Phase_I	140852261	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	17.69	3.452042	0.63290	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.94862	-3.54	5.48	0.564	0.17302	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.87669	0.6235	L	0.28740	0.885	0.36670	D	0.878429	B	0.18310	0.027	B	0.25405	0.06	T	0.75852	-0.3171	10	0.19590	T	0.45	.	7.2594	0.26195	0.5196:0.1187:0.3617:0.0	.	3532	Q9NZR2	LRP1B_HUMAN	L	3532;3470	ENSP00000374135:F3532L	ENSP00000374135:F3532L	F	-	3	2	LRP1B	140852261	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	0.881000	0.28173	-0.153000	0.11137	-1.431000	0.01090	TTT		0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	hgsc.bcm.edu	37	2	141200113	141200113	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:141200113C>A	ENST00000389484.3	-	66	11345	c.10374G>T	c.(10372-10374)gaG>gaT	p.E3458D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3458	LDL-receptor class A 24. {ECO:0000255|PROSITE-ProRule:PRU00124}.		E -> K (in dbSNP:rs1878740).		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.E3458D(3)		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)		AGTCTGGATCCTCGTCACAAA	0.473										TSP Lung(27;0.18)																											p.E3458D	Colon(99;50 2074 2507 20106)											.	.	3	Substitution - Missense(3)	liver(2)|large_intestine(1)	c.G10374T	2						.						158.0	145.0	150.0					2																	141200113		2203	4300	6503	140916583	SO:0001583	missense	53353	exon66			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.10374G>T	2.37:g.141200113C>A	ENSP00000374135:p.Glu3458Asp	Somatic		Capture	SOLID	Phase_I	140916583	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345655	0.41498	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95482	-3.72	5.33	3.35	0.38373	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.136919	0.47455	U	0.000228	D	0.85392	0.5686	N	0.01809	-0.71	0.41705	D	0.989429	P	0.51537	0.946	B	0.42738	0.396	D	0.83857	0.0266	10	0.40728	T	0.16	.	8.4728	0.32995	0.0:0.6523:0.0:0.3477	.	3458	Q9NZR2	LRP1B_HUMAN	D	3458;3396	ENSP00000374135:E3458D	ENSP00000374135:E3458D	E	-	3	2	LRP1B	140916583	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	0.912000	0.28597	0.506000	0.28125	0.557000	0.71058	GAG		0.473	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	hgsc.bcm.edu	37	2	141215173	141215173	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:141215173C>A	ENST00000389484.3	-	61	10644	c.9673G>T	c.(9673-9675)Gac>Tac	p.D3225Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3225					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.D3225Y(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)		TAGATGTAGTCTTCAAACAAT	0.433										TSP Lung(27;0.18)																											p.D3225Y	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9673T	2						.						214.0	189.0	198.0					2																	141215173		2203	4300	6503	140931643	SO:0001583	missense	53353	exon61			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.9673G>T	2.37:g.141215173C>A	ENSP00000374135:p.Asp3225Tyr	Somatic		Capture	SOLID	Phase_I	140931643	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585087	0.86748	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.92099	-2.97	5.46	5.46	0.80206	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	U	0.000000	D	0.97399	0.9149	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98260	1.0498	10	0.87932	D	0	.	19.3152	0.94208	0.0:1.0:0.0:0.0	.	3225	Q9NZR2	LRP1B_HUMAN	Y	3225;3163	ENSP00000374135:D3225Y	ENSP00000374135:D3225Y	D	-	1	0	LRP1B	140931643	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.792000	0.85828	2.550000	0.86006	0.655000	0.94253	GAC		0.433	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
KYNU	8942	hgsc.bcm.edu	37	2	143799738	143799738	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:143799738T>A	ENST00000264170.4	+	14	1653	c.1395T>A	c.(1393-1395)aaT>aaA	p.N465K	KYNU_ENST00000409512.1_Missense_Mutation_p.N465K	NM_003937.2	NP_003928.1			kynureninase									p.N465K(1)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		AAACAAAAAATTAGCAGTGTT	0.323																																					p.N465K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1395A	2						.						65.0	68.0	67.0					2																	143799738		2203	4300	6503	143516208	SO:0001583	missense	8942	exon15			U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.1395T>A	2.37:g.143799738T>A	ENSP00000264170:p.Asn465Lys	Somatic		Capture	SOLID	Phase_I	143516208	NM_001199241		Missense_Mutation	SNP	ENST00000264170.4	37	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	T	15.72	2.916609	0.52546	.	.	ENSG00000115919	ENST00000264170;ENST00000409512	T;T	0.54279	0.58;0.58	4.29	-8.59	0.00893	.	2.298320	0.01464	N	0.015997	T	0.23727	0.0574	N	0.08118	0	0.19300	N	0.999974	B	0.23650	0.089	B	0.17098	0.017	T	0.12941	-1.0528	10	0.27785	T	0.31	.	1.4439	0.02360	0.4191:0.2153:0.2386:0.127	.	465	Q16719	KYNU_HUMAN	K	465	ENSP00000264170:N465K;ENSP00000386731:N465K	ENSP00000264170:N465K	N	+	3	2	KYNU	143516208	0.000000	0.05858	0.000000	0.03702	0.820000	0.46376	-1.613000	0.02059	-2.247000	0.00703	0.528000	0.53228	AAT		0.323	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998	
CCDC148	130940	hgsc.bcm.edu	37	2	159214991	159214991	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:159214991C>A	ENST00000283233.5	-	2	430	c.117G>T	c.(115-117)aaG>aaT	p.K39N	CCDC148_ENST00000536771.1_Intron|CCDC148_ENST00000409889.1_Missense_Mutation_p.K39N|CCDC148_ENST00000409187.1_Missense_Mutation_p.K48N	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	39								p.K39N(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						AAGCCAATTTCTTTGCTTCAG	0.338																																					p.K39N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G117T	2						.						194.0	181.0	185.0					2																	159214991		2202	4300	6502	158923237	SO:0001583	missense	130940	exon2				CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.117G>T	2.37:g.159214991C>A	ENSP00000283233:p.Lys39Asn	Somatic		Capture	SOLID	Phase_I	158923237	NM_138803	F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Missense_Mutation	SNP	ENST00000283233.5	37	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056726	0.36277	.	.	ENSG00000153237	ENST00000283233;ENST00000409187;ENST00000409889	T;T;T	0.47177	0.85;0.85;0.85	5.52	0.038	0.14199	.	.	.	.	.	T	0.50171	0.1600	M	0.62723	1.935	0.80722	D	1	P	0.51351	0.944	P	0.50617	0.646	T	0.48937	-0.8990	9	0.54805	T	0.06	-9.4793	8.982	0.35970	0.0:0.4129:0.0:0.5871	.	39	Q8NFR7	CC148_HUMAN	N	39;48;39	ENSP00000283233:K39N;ENSP00000386674:K48N;ENSP00000386583:K39N	ENSP00000283233:K39N	K	-	3	2	CCDC148	158923237	0.980000	0.34600	0.926000	0.36857	0.128000	0.20619	-0.160000	0.10041	-0.171000	0.10797	-0.300000	0.09419	AAG		0.338	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803	
PLA2R1	22925	hgsc.bcm.edu	37	2	160803425	160803425	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:160803425G>T	ENST00000283243.7	-	27	4060	c.3854C>A	c.(3853-3855)tCt>tAt	p.S1285Y	PLA2R1_ENST00000392771.1_Missense_Mutation_p.S1285Y|PLA2R1_ENST00000460710.1_5'Flank	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1285	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)	p.S1285Y(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TAAAAGATTAGAACCTATAAG	0.323																																					p.S1285Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3854A	2						.						100.0	106.0	104.0					2																	160803425		2203	4300	6503	160511671	SO:0001583	missense	22925	exon27			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.3854C>A	2.37:g.160803425G>T	ENSP00000283243:p.Ser1285Tyr	Somatic		Capture	SOLID	Phase_I	160511671	NM_001195641	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174843	0.78564	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.23950	1.88;2.98	5.37	5.37	0.77165	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.146862	0.46758	D	0.000272	T	0.56529	0.1991	M	0.85542	2.76	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.74023	0.976;0.982;0.977	T	0.57556	-0.7791	10	0.36615	T	0.2	.	19.0988	0.93265	0.0:0.0:1.0:0.0	.	1285;1285;1285	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	Y	1285	ENSP00000283243:S1285Y;ENSP00000376524:S1285Y	ENSP00000283243:S1285Y	S	-	2	0	PLA2R1	160511671	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	8.331000	0.90022	2.518000	0.84900	0.650000	0.86243	TCT		0.323	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1		
LRP2	4036	hgsc.bcm.edu	37	2	170009383	170009383	+	Silent	SNP	A	A	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:170009383A>G	ENST00000263816.3	-	67	12672	c.12387T>C	c.(12385-12387)aaT>aaC	p.N4129N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4129					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.N4129N(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)"""	CCTGCACAAGATTATTGCGGC	0.483																																					p.N4129N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T12387C	2						.						241.0	236.0	238.0					2																	170009383		2203	4300	6503	169717629	SO:0001819	synonymous_variant	4036	exon67				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.12387T>C	2.37:g.170009383A>G		Somatic		Capture	SOLID	Phase_I	169717629	NM_004525	O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																				0.483	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
LRP2	4036	hgsc.bcm.edu	37	2	170044681	170044681	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:170044681G>A	ENST00000263816.3	-	49	9412	c.9127C>T	c.(9127-9129)Cgc>Tgc	p.R3043C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3043	LDL-receptor class A 24. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R3043C(2)		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)"""	CTAATGCAGCGCCCGTTCTGA	0.517																																					p.R3043C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C9127T	2						.						140.0	134.0	136.0					2																	170044681		2203	4300	6503	169752927	SO:0001583	missense	4036	exon49				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.9127C>T	2.37:g.170044681G>A	ENSP00000263816:p.Arg3043Cys	Somatic		Capture	SOLID	Phase_I	169752927	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.042203	0.75732	.	.	ENSG00000081479	ENST00000263816	D	0.96136	-3.92	5.68	2.66	0.31614	.	0.436137	0.26159	N	0.025985	D	0.96571	0.8881	M	0.74647	2.275	0.80722	D	1	D	0.76494	0.999	P	0.62382	0.901	D	0.95853	0.8876	10	0.66056	D	0.02	.	11.194	0.48703	0.0:0.1242:0.618:0.2577	.	3043	P98164	LRP2_HUMAN	C	3043	ENSP00000263816:R3043C	ENSP00000263816:R3043C	R	-	1	0	LRP2	169752927	0.999000	0.42202	0.322000	0.25334	0.878000	0.50629	2.841000	0.48223	0.707000	0.31934	0.650000	0.86243	CGC		0.517	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
LRP2	4036	hgsc.bcm.edu	37	2	170103944	170103944	+	Missense_Mutation	SNP	C	C	T	rs375213878		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:170103944C>T	ENST00000263816.3	-	20	3137	c.2852G>A	c.(2851-2853)cGa>cAa	p.R951Q	LRP2_ENST00000443831.1_Missense_Mutation_p.R814Q	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	951					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.R951Q(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)"""	AATGCCACTTCGGATAACTGT	0.388																																					p.R951Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2852A	2						.	C	GLN/ARG	0,4406		0,0,2203	136.0	119.0	125.0		2852	5.8	0.8	2		125	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP2	NM_004525.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	951/4656	170103944	1,13005	2203	4300	6503	169812190	SO:0001583	missense	4036	exon20				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.2852G>A	2.37:g.170103944C>T	ENSP00000263816:p.Arg951Gln	Somatic		Capture	SOLID	Phase_I	169812190	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590341	0.86851	0.0	1.16E-4	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.91237	-2.81;-2.81	5.8	5.8	0.92144	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.94262	0.8157	L	0.60845	1.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.91641	0.5327	10	0.23891	T	0.37	.	20.0493	0.97618	0.0:1.0:0.0:0.0	.	814;951	E9PC35;P98164	.;LRP2_HUMAN	Q	951;814	ENSP00000263816:R951Q;ENSP00000409813:R814Q	ENSP00000263816:R951Q	R	-	2	0	LRP2	169812190	1.000000	0.71417	0.763000	0.31416	0.212000	0.24457	5.718000	0.68455	2.745000	0.94114	0.491000	0.48974	CGA		0.388	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
ITGA6	3655	hgsc.bcm.edu	37	2	173349579	173349579	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:173349579G>A	ENST00000264106.6	+	13	1939	c.1736G>A	c.(1735-1737)cGa>cAa	p.R579Q	ITGA6_ENST00000409080.1_Missense_Mutation_p.R540Q|ITGA6_ENST00000343713.4_Missense_Mutation_p.R535Q|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409532.1_Missense_Mutation_p.R421Q|ITGA6_ENST00000264107.7_Missense_Mutation_p.R540Q|ITGA6_ENST00000375221.2_Missense_Mutation_p.R579Q			P23229	ITA6_HUMAN	integrin, alpha 6	579					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.R540Q(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GTTCAGTTTCGAAACCAAGGT	0.408																																					p.R540Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1619A	2						.						70.0	70.0	70.0					2																	173349579		2203	4300	6503	173057825	SO:0001583	missense	3655	exon12				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.1736G>A	2.37:g.173349579G>A	ENSP00000264106:p.Arg579Gln	Somatic		Capture	SOLID	Phase_I	173057825	NM_000210	B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37		.	.	.	.	.	.	.	.	.	.	G	11.74	1.728680	0.30593	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.77	2.86	0.33363	.	0.618508	0.17307	N	0.179025	T	0.16727	0.0402	N	0.08118	0	0.34379	D	0.692892	B;B;B;B	0.32040	0.18;0.353;0.105;0.105	B;B;B;B	0.29524	0.103;0.103;0.103;0.065	T	0.16958	-1.0385	10	0.12103	T	0.63	.	4.6521	0.12599	0.259:0.2678:0.4732:0.0	.	535;579;540;540	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	Q	421;540;579;579;535;540;579;535	ENSP00000386614:R421Q;ENSP00000264107:R540Q;ENSP00000264106:R579Q;ENSP00000364369:R579Q;ENSP00000341078:R535Q;ENSP00000386896:R540Q;ENSP00000406694:R579Q;ENSP00000394169:R535Q	ENSP00000264106:R579Q	R	+	2	0	ITGA6	173057825	0.204000	0.23447	1.000000	0.80357	0.997000	0.91878	0.066000	0.14489	1.444000	0.47605	0.561000	0.74099	CGA		0.408	ITGA6-201	KNOWN	basic	protein_coding	protein_coding			
TTN	7273	hgsc.bcm.edu	37	2	179616311	179616311	+	Intron	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:179616311A>C	ENST00000591111.1	-	45	10585				TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.Y3606D|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA			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.Y3606D(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)			AATTCTAAATATTTCTCATCT	0.388																																					p.Y3606D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T10816G	2						.						129.0	133.0	132.0					2																	179616311		2202	4296	6498	179324556	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+1539T>G	2.37:g.179616311A>C		Somatic		Capture	SOLID	Phase_I	179324556	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		.	.	.	.	.	.	.	.	.	.	A	12.47	1.948722	0.34377	.	.	ENSG00000155657	ENST00000360870	T	0.58652	0.32	5.66	5.66	0.87406	.	.	.	.	.	T	0.63189	0.2490	L	0.32530	0.975	0.80722	D	1	D	0.60575	0.988	P	0.61201	0.885	T	0.61705	-0.7008	9	0.35671	T	0.21	.	14.8633	0.70397	1.0:0.0:0.0:0.0	.	3606	Q8WZ42-6	.	D	3606	ENSP00000354117:Y3606D	ENSP00000354117:Y3606D	Y	-	1	0	TTN	179324556	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.932000	0.56537	2.151000	0.67156	0.533000	0.62120	TAT		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179631234	179631234	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:179631234G>A	ENST00000591111.1	-	41	9801	c.9577C>T	c.(9577-9579)Cga>Tga	p.R3193*	TTN_ENST00000460472.2_Nonsense_Mutation_p.R3147*|TTN_ENST00000342175.6_Nonsense_Mutation_p.R3147*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R3193*|TTN_ENST00000360870.5_Nonsense_Mutation_p.R3193*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R3193*|TTN_ENST00000359218.5_Nonsense_Mutation_p.R3147*|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13523					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.R3147*(6)|p.R3193*(5)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTTGTGTCGTTCTTGAACT	0.423																																					p.R3147X												.	.	11	Substitution - Nonsense(11)	kidney(6)|large_intestine(5)	c.C9439T	2						.						158.0	144.0	149.0					2																	179631234		2203	4300	6503	179339479	SO:0001587	stop_gained	7273	exon40			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.9577C>T	2.37:g.179631234G>A	ENSP00000465570:p.Arg3193*	Somatic		Capture	SOLID	Phase_I	179339479	NM_133432	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	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	50	17.231516	0.99882	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	5.7	0.593	0.17478	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6254	0.91336	0.0:0.0:0.226:0.774	.	.	.	.	X	3193;3147;3147;3147;3147;3193	.	ENSP00000340554:R3147X	R	-	1	2	TTN	179339479	0.965000	0.33210	0.977000	0.42913	0.514000	0.34195	0.588000	0.23924	-0.172000	0.10779	-2.591000	0.00164	CGA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179641193	179641193	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:179641193G>T	ENST00000591111.1	-	28	5622	c.5398C>A	c.(5398-5400)Ctt>Att	p.L1800I	TTN_ENST00000460472.2_Missense_Mutation_p.L1754I|TTN_ENST00000342175.6_Missense_Mutation_p.L1754I|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L1800I|TTN_ENST00000360870.5_Missense_Mutation_p.L1800I|TTN_ENST00000342992.6_Missense_Mutation_p.L1800I|TTN_ENST00000359218.5_Missense_Mutation_p.L1754I			Q8WZ42	TITIN_HUMAN	titin	12628					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.L1754I(3)|p.L1800I(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)			TCTTCCACAAGACTTTTCTCA	0.408																																					p.L1754I												.	.	5	Substitution - Missense(5)	large_intestine(5)	c.C5260A	2						.						108.0	107.0	107.0					2																	179641193		2203	4300	6503	179349438	SO:0001583	missense	7273	exon27			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.5398C>A	2.37:g.179641193G>T	ENSP00000465570:p.Leu1800Ile	Somatic		Capture	SOLID	Phase_I	179349438	NM_133432	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		.	.	.	.	.	.	.	.	.	.	G	12.57	1.977288	0.34848	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.58652	0.32;0.54;0.52;0.54;0.64	5.08	5.08	0.68730	Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68513	0.3009	L	0.32530	0.975	0.37824	D	0.928485	D;D;D;D;D	0.89917	0.997;0.997;0.997;0.997;1.0	D;D;D;D;D	0.85130	0.991;0.991;0.991;0.991;0.997	T	0.74825	-0.3533	9	0.87932	D	0	.	18.4712	0.90776	0.0:0.0:1.0:0.0	.	1754;1754;1754;1800;1800	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	I	1800;1754;1754;1754;1754;1800	ENSP00000343764:L1800I;ENSP00000434586:L1754I;ENSP00000340554:L1754I;ENSP00000352154:L1754I;ENSP00000354117:L1800I	ENSP00000340554:L1754I	L	-	1	0	TTN	179349438	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.789000	0.99068	2.376000	0.81061	0.655000	0.94253	CTT		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179659935	179659935	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:179659935G>T	ENST00000591111.1	-	7	1183	c.959C>A	c.(958-960)tCt>tAt	p.S320Y	TTN_ENST00000460472.2_Missense_Mutation_p.S320Y|TTN_ENST00000342175.6_Missense_Mutation_p.S320Y|TTN_ENST00000589042.1_Missense_Mutation_p.S320Y|TTN_ENST00000360870.5_Missense_Mutation_p.S320Y|TTN_ENST00000342992.6_Missense_Mutation_p.S320Y|TTN_ENST00000359218.5_Missense_Mutation_p.S320Y			Q8WZ42	TITIN_HUMAN	titin	0	ZIS1.				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.S320Y(5)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGACCTAACAGACCTGATGGG	0.552																																					p.S320Y												.	.	5	Substitution - Missense(5)	large_intestine(5)	c.C959A	2						.						94.0	86.0	89.0					2																	179659935		2203	4300	6503	179368180	SO:0001583	missense	7273	exon7			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.959C>A	2.37:g.179659935G>T	ENSP00000465570:p.Ser320Tyr	Somatic		Capture	SOLID	Phase_I	179368180	NM_133432	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		.	.	.	.	.	.	.	.	.	.	G	14.38	2.516883	0.44763	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.65364	-0.15;0.1;0.08;0.07;0.27	6.07	6.07	0.98685	.	.	.	.	.	T	0.66684	0.2814	N	0.22421	0.69	0.38894	D	0.957178	P;P;P;P;D	0.59767	0.828;0.828;0.828;0.828;0.986	B;B;B;B;P	0.57152	0.34;0.34;0.34;0.34;0.814	T	0.70510	-0.4852	9	0.87932	D	0	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	320;320;320;320;320	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Y	320	ENSP00000343764:S320Y;ENSP00000434586:S320Y;ENSP00000340554:S320Y;ENSP00000352154:S320Y;ENSP00000354117:S320Y	ENSP00000340554:S320Y	S	-	2	0	TTN	179368180	1.000000	0.71417	0.985000	0.45067	0.508000	0.34012	7.515000	0.81761	2.885000	0.99019	0.655000	0.94253	TCT		0.552	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
COL5A2	1290	hgsc.bcm.edu	37	2	189898840	189898840	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:189898840C>T	ENST00000374866.3	-	54	4730	c.4456G>A	c.(4456-4458)Gac>Aac	p.D1486N		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1486	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.D1486N(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AATTCCTGGTCTGTGCCGCCA	0.483																																					p.D1486N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4456A	2						.						143.0	115.0	125.0					2																	189898840		2203	4300	6503	189607085	SO:0001583	missense	1290	exon54			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.4456G>A	2.37:g.189898840C>T	ENSP00000364000:p.Asp1486Asn	Somatic		Capture	SOLID	Phase_I	189607085	NM_000393	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641883	0.67244	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	T	0.74209	-0.82	5.1	5.1	0.69264	Fibrillar collagen, C-terminal (4);	0.000000	0.52532	D	0.000065	T	0.81479	0.4831	L	0.45422	1.42	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.83275	0.996;0.996	T	0.76493	-0.2939	10	0.21014	T	0.42	.	18.7013	0.91621	0.0:1.0:0.0:0.0	.	1126;1486	Q5PR22;P05997	.;CO5A2_HUMAN	N	1486;1126	ENSP00000364000:D1486N	ENSP00000364000:D1486N	D	-	1	0	COL5A2	189607085	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.793000	0.62474	2.647000	0.89833	0.650000	0.86243	GAC		0.483	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	
ICA1L	130026	hgsc.bcm.edu	37	2	203693680	203693680	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:203693680C>A	ENST00000392237.2	-	3	210	c.53G>T	c.(52-54)aGa>aTa	p.R18I	ICA1L_ENST00000418208.1_Missense_Mutation_p.R18I|ICA1L_ENST00000425178.1_Missense_Mutation_p.R18I|ICA1L_ENST00000358299.2_Missense_Mutation_p.R18I	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	18								p.R18I(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTTTGCATTCTTCTGACTAC	0.383																																					p.R18I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G53T	2						.						165.0	148.0	154.0					2																	203693680		2203	4300	6503	203401925	SO:0001583	missense	130026	exon4			AB053317	CCDS2354.1, CCDS74632.1	2q33	2008-02-05	2006-05-26	2006-05-26	ENSG00000163596	ENSG00000163596			14442	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14"""	ALS2CR15, ALS2CR14		11586298	Standard	NM_138468		Approved		uc002uzh.1	Q8NDH6	OTTHUMG00000132856	ENST00000392237.2:c.53G>T	2.37:g.203693680C>A	ENSP00000376070:p.Arg18Ile	Somatic		Capture	SOLID	Phase_I	203401925	NM_178231	B3KRW6|Q53P45|Q53QZ4|Q53T97|Q96N47|Q96Q32|Q9BVQ2	Missense_Mutation	SNP	ENST00000392237.2	37	CCDS2354.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389328	0.61956	.	.	ENSG00000163596	ENST00000392237;ENST00000358299;ENST00000420558;ENST00000425178;ENST00000418208;ENST00000450143;ENST00000435143;ENST00000419460;ENST00000441547;ENST00000412210;ENST00000457524;ENST00000432273;ENST00000416760;ENST00000454326;ENST00000411681;ENST00000421334	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.91	5.91	0.95273	Arfaptin-like (1);	0.000000	0.85682	D	0.000000	D	0.83912	0.5357	L	0.59436	1.845	0.58432	D	0.999996	P;D	0.54601	0.933;0.967	P;D	0.65140	0.653;0.932	D	0.84513	0.0623	10	0.72032	D	0.01	.	11.1129	0.48243	0.0:0.9168:0.0:0.0832	.	18;18	Q96Q33;Q8NDH6	.;ICA1L_HUMAN	I	18	ENSP00000376070:R18I;ENSP00000351047:R18I;ENSP00000400249:R18I;ENSP00000404189:R18I;ENSP00000412158:R18I;ENSP00000410747:R18I;ENSP00000405592:R18I;ENSP00000410135:R18I;ENSP00000404618:R18I;ENSP00000387382:R18I;ENSP00000404707:R18I;ENSP00000397827:R18I;ENSP00000392609:R18I;ENSP00000416726:R18I;ENSP00000409741:R18I	ENSP00000351047:R18I	R	-	2	0	ICA1L	203401925	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.133000	0.42093	2.799000	0.96334	0.650000	0.86243	AGA		0.383	ICA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256330.1	NM_138468	
GPR1	2825	hgsc.bcm.edu	37	2	207041492	207041492	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:207041492G>T	ENST00000407325.2	-	3	842	c.480C>A	c.(478-480)ttC>ttA	p.F160L	GPR1_ENST00000437420.1_Missense_Mutation_p.F160L	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	160					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.F160L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		AAAGCCAGATGAATATAATGA	0.443																																					p.F160L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C480A	2						.						92.0	94.0	93.0					2																	207041492		2203	4300	6503	206749737	SO:0001583	missense	2825	exon3				CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"""GPCR / Class A : Orphans"""	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.480C>A	2.37:g.207041492G>T	ENSP00000384345:p.Phe160Leu	Somatic		Capture	SOLID	Phase_I	206749737	NM_005279	A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Missense_Mutation	SNP	ENST00000407325.2	37	CCDS2368.1	.	.	.	.	.	.	.	.	.	.	G	6.754	0.507979	0.12883	.	.	ENSG00000183671	ENST00000407325;ENST00000437420;ENST00000442134;ENST00000451790	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.84	-9.43	0.00607	GPCR, rhodopsin-like superfamily (1);	1.021510	0.07758	N	0.949611	T	0.08403	0.0209	N	0.01202	-0.96	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21930	-1.0231	10	0.19147	T	0.46	.	3.9491	0.09361	0.5138:0.0772:0.2537:0.1553	.	160	P46091	GPR1_HUMAN	L	160	ENSP00000384345:F160L;ENSP00000397535:F160L;ENSP00000414836:F160L;ENSP00000391146:F160L	ENSP00000384345:F160L	F	-	3	2	GPR1	206749737	0.000000	0.05858	0.000000	0.03702	0.951000	0.60555	-0.520000	0.06252	-1.484000	0.01856	0.650000	0.86243	TTC		0.443	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256394.2	NM_001098199	
IDH1	3417	hgsc.bcm.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																p.R132C	Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	IDH1,large_intestine,NS,Substitution - Missense,0	.	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	c.C394T	2						.						81.0	74.0	76.0					2																	209113113		2203	4300	6503	208821358	SO:0001583	missense	3417	exon4				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys	Somatic		Capture	SOLID	Phase_I	208821358	NM_005896	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1		
APOB	338	hgsc.bcm.edu	37	2	21229930	21229930	+	Silent	SNP	G	G	A	rs138010392		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:21229930G>A	ENST00000233242.1	-	26	9937	c.9810C>T	c.(9808-9810)ttC>ttT	p.F3270F		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3270					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.F3270F(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)					ACACATAGCCGAATGCCGACA	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		19816	0.001		0.0	False		,,,				2504	0.0				p.F3270F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C9810T	2						.	G		6,4400	11.4+/-27.6	0,6,2197	81.0	74.0	76.0		9810	-3.7	0.0	2	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous	APOB	NM_000384.2		0,6,6497	AA,AG,GG		0.0,0.1362,0.0461		3270/4564	21229930	6,13000	2203	4300	6503	21083435	SO:0001819	synonymous_variant	338	exon26			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9810C>T	2.37:g.21229930G>A		Somatic		Capture	SOLID	Phase_I	21083435	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																				0.473	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
APOB	338	hgsc.bcm.edu	37	2	21236097	21236097	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:21236097C>T	ENST00000233242.1	-	25	4278	c.4151G>A	c.(4150-4152)aGc>aAc	p.S1384N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1384					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.S1384N(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)					AGCCCGAAGGCTGAAATGGTC	0.537																																					p.S1384N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4151A	2						.						180.0	167.0	171.0					2																	21236097		2203	4300	6503	21089602	SO:0001583	missense	338	exon25			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.4151G>A	2.37:g.21236097C>T	ENSP00000233242:p.Ser1384Asn	Somatic		Capture	SOLID	Phase_I	21089602	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592459	0.46214	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00892	5.57	5.31	4.43	0.53597	.	0.528422	0.19803	N	0.105714	T	0.01489	0.0048	L	0.59436	1.845	0.53688	D	0.999978	B	0.34372	0.451	B	0.30179	0.112	T	0.63985	-0.6513	10	0.44086	T	0.13	.	13.5064	0.61486	0.283:0.717:0.0:0.0	.	1384	P04114	APOB_HUMAN	N	1384	ENSP00000233242:S1384N	ENSP00000233242:S1384N	S	-	2	0	APOB	21089602	0.007000	0.16637	0.877000	0.34402	0.845000	0.48019	0.456000	0.21859	1.348000	0.45733	0.557000	0.71058	AGC		0.537	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
PIKFYVE	200576	hgsc.bcm.edu	37	2	209200619	209200619	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:209200619G>T	ENST00000264380.4	+	26	4517	c.4359G>T	c.(4357-4359)caG>caT	p.Q1453H	PIKFYVE_ENST00000474721.1_3'UTR	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1453					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.Q1453H(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						TTTTTGCACAGAAAGAGGTAA	0.249																																					p.Q1453H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4359T	2						.						40.0	42.0	42.0					2																	209200619		2191	4286	6477	208908864	SO:0001583	missense	200576	exon26			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.4359G>T	2.37:g.209200619G>T	ENSP00000264380:p.Gln1453His	Somatic		Capture	SOLID	Phase_I	208908864	NM_015040	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760052	0.49468	.	.	ENSG00000115020	ENST00000264380	T	0.25579	1.79	5.01	1.36	0.22044	.	0.000000	0.85682	D	0.000000	T	0.39489	0.1080	L	0.55481	1.735	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	T	0.04522	-1.0945	10	0.45353	T	0.12	-12.387	8.3445	0.32263	0.7606:0.0:0.2394:0.0	.	1453	Q9Y2I7	FYV1_HUMAN	H	1453	ENSP00000264380:Q1453H	ENSP00000264380:Q1453H	Q	+	3	2	PIKFYVE	208908864	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	2.523000	0.45580	0.053000	0.16036	-0.379000	0.06801	CAG		0.249	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040	
ABCA12	26154	hgsc.bcm.edu	37	2	215815640	215815640	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:215815640G>T	ENST00000272895.7	-	45	7034	c.6815C>A	c.(6814-6816)gCt>gAt	p.A2272D	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.A1954D	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2272	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.A2272D(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)		GTTGTTTACAGCTATAATCTT	0.378																																					p.A2272D	Ovarian(66;664 1488 5121 34295)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6815A	2						.						152.0	149.0	150.0					2																	215815640		2203	4300	6503	215523885	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.6815C>A	2.37:g.215815640G>T	ENSP00000272895:p.Ala2272Asp	Somatic		Capture	SOLID	Phase_I	215523885	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918918	0.92249	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.82344	-1.6;-1.6	5.61	5.61	0.85477	ABC transporter-like (1);	0.000000	0.64402	D	0.000003	D	0.95736	0.8613	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	0.97615	1.0132	10	0.87932	D	0	.	19.6562	0.95842	0.0:0.0:1.0:0.0	.	2272;1954	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	D	2272;1954	ENSP00000272895:A2272D;ENSP00000374312:A1954D	ENSP00000272895:A2272D	A	-	2	0	ABCA12	215523885	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	8.885000	0.92439	2.639000	0.89480	0.555000	0.69702	GCT		0.378	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
ABCA12	26154	hgsc.bcm.edu	37	2	215818730	215818730	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:215818730G>A	ENST00000272895.7	-	44	6714	c.6495C>T	c.(6493-6495)gtC>gtT	p.V2165V	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Silent_p.V1847V	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2165					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.V2165V(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)		AGAAGTCTAGGACCGACTGTT	0.398																																					p.V2165V	Ovarian(66;664 1488 5121 34295)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6495T	2						.						116.0	114.0	115.0					2																	215818730		2203	4300	6503	215526975	SO:0001819	synonymous_variant	26154	exon44			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6495C>T	2.37:g.215818730G>A		Somatic		Capture	SOLID	Phase_I	215526975	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	CCDS33372.1																																																																																				0.398	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
SMARCAL1	50485	hgsc.bcm.edu	37	2	217332750	217332750	+	Missense_Mutation	SNP	C	C	T	rs2271336		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:217332750C>T	ENST00000357276.4	+	14	2555	c.2225C>T	c.(2224-2226)aCg>aTg	p.T742M	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.T742M	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	742	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.		T -> M (in dbSNP:rs2271336).		cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)	p.T742M(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		GACGCAATTACGCAAGAGCTT	0.443									Schimke Immuno-Osseous Dysplasia				C|||	1	0.000199681	0.0008	0.0	5008	,	,		19778	0.0		0.0	False		,,,				2504	0.0				p.T742M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2225T	2						.	C	MET/THR,MET/THR	0,4406		0,0,2203	142.0	135.0	137.0		2225,2225	3.0	0.3	2	dbSNP_100	137	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SMARCAL1	NM_001127207.1,NM_014140.3	81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	742/955,742/955	217332750	1,13005	2203	4300	6503	217040995	SO:0001583	missense	50485	exon14	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.2225C>T	2.37:g.217332750C>T	ENSP00000349823:p.Thr742Met	Somatic		Capture	SOLID	Phase_I	217040995	NM_001127207	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	CCDS2403.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	1.202	-0.632212	0.03584	0.0	1.16E-4	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	T;T;T	0.80653	-1.4;-1.4;-0.98	4.85	2.98	0.34508	Helicase, C-terminal (2);	0.469252	0.24318	N	0.039572	T	0.59838	0.2223	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.14578	0.011	T	0.52426	-0.8577	10	0.46703	T	0.11	-10.6659	7.2786	0.26297	0.0:0.6103:0.2183:0.1714	rs2271336;rs2271336	742	Q9NZC9	SMAL1_HUMAN	M	742;742;584	ENSP00000349823:T742M;ENSP00000350940:T742M;ENSP00000375974:T584M	ENSP00000349823:T742M	T	+	2	0	SMARCAL1	217040995	0.004000	0.15560	0.266000	0.24541	0.040000	0.13550	0.654000	0.24918	1.283000	0.44513	-0.137000	0.14449	ACG		0.443	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2		
CCDC108	255101	hgsc.bcm.edu	37	2	219892943	219892943	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:219892943C>T	ENST00000341552.5	-	12	1914	c.1831G>A	c.(1831-1833)Gct>Act	p.A611T	CCDC108_ENST00000453220.1_Missense_Mutation_p.A611T|CCDC108_ENST00000410037.1_Missense_Mutation_p.A546T|CCDC108_ENST00000409865.3_Missense_Mutation_p.A600T|CCDC108_ENST00000441968.1_Missense_Mutation_p.A611T	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	611						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.A611T(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATCATGAGAGCCCCGTTCTGG	0.612																																					p.A611T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1831A	2						.						59.0	62.0	61.0					2																	219892943		2203	4300	6503	219601187	SO:0001583	missense	255101	exon12			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.1831G>A	2.37:g.219892943C>T	ENSP00000340776:p.Ala611Thr	Somatic		Capture	SOLID	Phase_I	219601187	NM_194302	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324239	0.41197	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000545086;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.08458	3.34;3.34;3.34;3.09;3.11	4.93	3.05	0.35203	.	0.000000	0.43747	D	0.000536	T	0.11110	0.0271	M	0.72894	2.215	0.80722	D	1	P;P;P	0.41475	0.751;0.514;0.745	B;B;B	0.38985	0.287;0.187;0.27	T	0.06752	-1.0809	10	0.41790	T	0.15	-25.9367	10.2549	0.43392	0.0:0.7899:0.1357:0.0744	.	600;545;611	E9PG25;B4DYZ8;Q6ZU64	.;.;CC108_HUMAN	T	611;611;611;87;600;546;545	ENSP00000340776:A611T;ENSP00000413377:A611T;ENSP00000409117:A611T;ENSP00000386945:A600T;ENSP00000386258:A546T	ENSP00000340776:A611T	A	-	1	0	CCDC108	219601187	1.000000	0.71417	0.992000	0.48379	0.375000	0.29983	3.346000	0.52190	1.298000	0.44778	0.655000	0.94253	GCT		0.612	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302	
EPHA4	2043	hgsc.bcm.edu	37	2	222294844	222294844	+	Missense_Mutation	SNP	G	G	A	rs560055932		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:222294844G>A	ENST00000281821.2	-	15	2565	c.2524C>T	c.(2524-2526)Cgg>Tgg	p.R842W	EPHA4_ENST00000392071.4_Missense_Mutation_p.R791W|EPHA4_ENST00000409938.1_Missense_Mutation_p.R842W|EPHA4_ENST00000409854.1_Missense_Mutation_p.R842W	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	842	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)	p.R842W(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGGGGTAACCGATAGCCTTCC	0.532																																					p.R842W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2524T	2						.						111.0	101.0	104.0					2																	222294844		2203	4300	6503	222003088	SO:0001583	missense	2043	exon15			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2524C>T	2.37:g.222294844G>A	ENSP00000281821:p.Arg842Trp	Somatic		Capture	SOLID	Phase_I	222003088	NM_004438	A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152639	0.78001	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.93	2.82	0.32997	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94381	0.8193	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96078	0.9051	10	0.87932	D	0	.	14.489	0.67637	0.0:0.0:0.5351:0.4649	.	842	P54764	EPHA4_HUMAN	W	842;842;842;791	ENSP00000281821:R842W;ENSP00000386276:R842W;ENSP00000386829:R842W;ENSP00000375923:R791W	ENSP00000281821:R842W	R	-	1	2	EPHA4	222003088	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	3.035000	0.49759	1.463000	0.47967	0.655000	0.94253	CGG		0.532	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3		
FARSB	10056	hgsc.bcm.edu	37	2	223489158	223489158	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:223489158A>G	ENST00000281828.6	-	12	1266	c.1003T>C	c.(1003-1005)Tat>Cat	p.Y335H	FARSB_ENST00000536361.1_Missense_Mutation_p.Y236H	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	335	B5. {ECO:0000255|PROSITE- ProRule:PRU00816}.				gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)	p.Y335H(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GATTTTAAATACATCCTGGTC	0.348																																					p.Y335H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1003C	2						.						88.0	84.0	86.0					2																	223489158		2203	4300	6503	223197402	SO:0001583	missense	10056	exon12			AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.1003T>C	2.37:g.223489158A>G	ENSP00000281828:p.Tyr335His	Somatic		Capture	SOLID	Phase_I	223197402	NM_005687	B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	ENST00000281828.6	37	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	A	13.39	2.223648	0.39300	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	T;T	0.29142	1.58;1.58	5.69	3.29	0.37713	DNA binding domain, putative (1);tRNA synthetase, B5-domain (4);	0.399428	0.32785	N	0.005643	T	0.41351	0.1155	L	0.40543	1.245	0.34255	D	0.679223	B;B	0.31989	0.32;0.35	P;P	0.55667	0.781;0.781	T	0.50215	-0.8854	10	0.16896	T	0.51	1.6219	10.3145	0.43729	0.8656:0.0:0.1344:0.0	.	335;335	A8K666;Q9NSD9	.;SYFB_HUMAN	H	335;236	ENSP00000281828:Y335H;ENSP00000442950:Y236H	ENSP00000281828:Y335H	Y	-	1	0	FARSB	223197402	1.000000	0.71417	0.646000	0.29493	0.994000	0.84299	5.963000	0.70372	0.420000	0.25954	0.533000	0.62120	TAT		0.348	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687	
DAW1	164781	hgsc.bcm.edu	37	2	228786135	228786135	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:228786135G>A	ENST00000309931.2	+	12	1154	c.1071G>A	c.(1069-1071)ggG>ggA	p.G357G	DAW1_ENST00000373666.2_3'UTR|DAW1_ENST00000545118.1_Silent_p.G342G	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	357						cilium (GO:0005929)		p.G357G(1)									ACCCTCAAGGGAACCATCTTC	0.413																																					p.G357G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1071A	2						.						82.0	82.0	82.0					2																	228786135		2203	4300	6503	228494379	SO:0001819	synonymous_variant	164781	exon12				CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.1071G>A	2.37:g.228786135G>A		Somatic		Capture	SOLID	Phase_I	228494379	NM_178821	Q6ZRY1|Q8N776	Silent	SNP	ENST00000309931.2	37	CCDS2470.1																																																																																				0.413	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821	
PSMD1	5707	hgsc.bcm.edu	37	2	232030617	232030617	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:232030617G>T	ENST00000308696.6	+	23	2763	c.2601G>T	c.(2599-2601)aaG>aaT	p.K867N	PSMD1_ENST00000409643.1_Missense_Mutation_p.K836N|PSMD1_ENST00000373635.4_Missense_Mutation_p.K836N	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	867					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 protein catabolic process (GO:0042176)|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)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.K867N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	AAAAAGAGAAGAAAAAAGAAC	0.403																																					p.K836N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2508T	2						.						59.0	59.0	59.0					2																	232030617		2203	4300	6503	231738861	SO:0001583	missense	5707	exon22			D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.2601G>T	2.37:g.232030617G>T	ENSP00000309474:p.Lys867Asn	Somatic		Capture	SOLID	Phase_I	231738861	NM_001191037	B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162933	0.57476	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	.	.	.	6.06	4.24	0.50183	.	0.237684	0.42548	D	0.000684	T	0.59197	0.2176	M	0.68952	2.095	0.80722	D	1	B	0.19817	0.039	B	0.14578	0.011	T	0.57429	-0.7813	9	0.56958	D	0.05	-16.6893	11.2378	0.48951	0.0654:0.0:0.8065:0.1281	.	867	Q99460	PSMD1_HUMAN	N	867;836;836	.	ENSP00000309474:K867N	K	+	3	2	PSMD1	231738861	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.762000	0.74950	0.871000	0.35750	0.655000	0.94253	AAG		0.403	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2		
ARMC9	80210	hgsc.bcm.edu	37	2	232081495	232081495	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:232081495G>T	ENST00000349938.4	+	5	687	c.493G>T	c.(493-495)Gaa>Taa	p.E165*	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	165						extracellular vesicular exosome (GO:0070062)		p.E165*(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		CTCATTTAAAGAACTCTTCCA	0.473																																					p.E165X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G493T	2						.						155.0	150.0	151.0					2																	232081495		2203	4300	6503	231789739	SO:0001587	stop_gained	80210	exon5			BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.493G>T	2.37:g.232081495G>T	ENSP00000258417:p.Glu165*	Somatic		Capture	SOLID	Phase_I	231789739	NM_025139	Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Nonsense_Mutation	SNP	ENST00000349938.4	37	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	G	36	5.607844	0.96626	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000440107	.	.	.	5.5	4.62	0.57501	.	0.211168	0.47852	D	0.000220	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-14.8735	15.7492	0.77969	0.0:0.0:0.8624:0.1376	.	.	.	.	X	165	.	ENSP00000258417:E165X	E	+	1	0	ARMC9	231789739	1.000000	0.71417	0.861000	0.33841	0.953000	0.61014	4.418000	0.59828	1.296000	0.44742	0.655000	0.94253	GAA		0.473	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139	
COPS8	10920	hgsc.bcm.edu	37	2	237998545	237998545	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:237998545G>T	ENST00000354371.2	+	4	892	c.239G>T	c.(238-240)aGa>aTa	p.R80I	COPS8_ENST00000409629.1_Missense_Mutation_p.R80I|COPS8_ENST00000392008.2_Missense_Mutation_p.R31I|COPS8_ENST00000409334.1_Missense_Mutation_p.R80I	NM_006710.4	NP_006701.1	Q99627	CSN8_HUMAN	COP9 signalosome subunit 8	80	PCI.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|cullin deneddylation (GO:0010388)|negative regulation of cell proliferation (GO:0008285)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.R80I(1)		large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)		GTAGGACAAAGAATCTGGCAG	0.428																																					p.R80I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G239T	2						.						77.0	78.0	77.0					2																	237998545		2203	4300	6503	237663284	SO:0001583	missense	10920	exon4				CCDS2517.1, CCDS42835.1	2q37.3	2013-03-14	2013-03-14		ENSG00000198612	ENSG00000198612			24335	protein-coding gene	gene with protein product			"""COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis)"""			7634324, 12732143	Standard	NM_006710		Approved	COP9, CSN8, MGC1297, SGN8	uc002vwh.3	Q99627	OTTHUMG00000133297	ENST00000354371.2:c.239G>T	2.37:g.237998545G>T	ENSP00000346340:p.Arg80Ile	Somatic		Capture	SOLID	Phase_I	237663284	NM_006710	A8K1H6|Q53QS9	Missense_Mutation	SNP	ENST00000354371.2	37	CCDS2517.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367250	0.61513	.	.	ENSG00000198612	ENST00000354371;ENST00000392008;ENST00000409334;ENST00000409629	.	.	.	5.37	5.37	0.77165	.	0.152564	0.53938	D	0.000053	T	0.55497	0.1924	L	0.50333	1.59	0.80722	D	1	B;B	0.19073	0.033;0.033	B;B	0.26094	0.066;0.066	T	0.50083	-0.8869	9	0.22706	T	0.39	.	11.5667	0.50809	0.0809:0.0:0.9191:0.0	.	80;80	B8ZZP3;Q99627	.;CSN8_HUMAN	I	80;31;80;80	.	ENSP00000346340:R80I	R	+	2	0	COPS8	237663284	1.000000	0.71417	0.926000	0.36857	0.999000	0.98932	6.289000	0.72696	2.524000	0.85096	0.650000	0.86243	AGA		0.428	COPS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257082.3	NM_006710	
KHK	3795	hgsc.bcm.edu	37	2	27320480	27320480	+	Missense_Mutation	SNP	G	G	A	rs143669793	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:27320480G>A	ENST00000260599.6	+	5	1040	c.527G>A	c.(526-528)cGa>cAa	p.R176Q	KHK_ENST00000490823.1_3'UTR|KHK_ENST00000260598.5_Missense_Mutation_p.R176Q	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	176					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)	p.R176Q(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGAAGCCACGAGAGGAGCTC	0.577													G|||	10	0.00199681	0.0023	0.0043	5008	,	,		19145	0.0		0.0	False		,,,				2504	0.0041				p.R176Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G527A	2						.	G	GLN/ARG,GLN/ARG	24,4382	30.8+/-60.4	0,24,2179	84.0	78.0	80.0		527,527	3.2	0.8	2	dbSNP_134	80	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	KHK	NM_000221.2,NM_006488.2	43,43	0,26,6477	AA,AG,GG		0.0233,0.5447,0.1999	benign,benign	176/299,176/299	27320480	26,12980	2203	4300	6503	27173984	SO:0001583	missense	3795	exon5				CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.527G>A	2.37:g.27320480G>A	ENSP00000260599:p.Arg176Gln	Somatic		Capture	SOLID	Phase_I	27173984	NM_000221	Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Missense_Mutation	SNP	ENST00000260599.6	37	CCDS1734.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	G	12.64	1.997816	0.35226	0.005447	2.33E-4	ENSG00000138030	ENST00000260599;ENST00000260598;ENST00000429697	T;T;T	0.76968	-1.06;-1.06;-0.18	5.93	3.22	0.36961	Carbohydrate/purine kinase (1);	0.155714	0.52532	N	0.000074	T	0.71745	0.3376	M	0.91818	3.245	0.35871	D	0.8282	P;P;P;P	0.51240	0.943;0.474;0.752;0.474	B;B;B;B	0.35312	0.167;0.041;0.2;0.041	T	0.80885	-0.1182	10	0.56958	D	0.05	.	11.0778	0.48043	0.1811:0.0:0.8189:0.0	.	176;176;176;176	Q53G56;Q6IBK2;P50053-2;P50053	.;.;.;KHK_HUMAN	Q	176;176;221	ENSP00000260599:R176Q;ENSP00000260598:R176Q;ENSP00000404741:R221Q	ENSP00000260598:R176Q	R	+	2	0	KHK	27173984	1.000000	0.71417	0.757000	0.31301	0.016000	0.09150	4.944000	0.63561	0.438000	0.26450	-1.729000	0.00701	CGA		0.577	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214196.1		
PRR30	339779	hgsc.bcm.edu	37	2	27360979	27360979	+	Silent	SNP	G	G	A	rs113380452	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:27360979G>A	ENST00000335524.3	-	3	744	c.219C>T	c.(217-219)ttC>ttT	p.F73F		NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		73	Pro-rich.							p.F73F(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACAAGAGCCGAATTGGAAGC	0.567													G|||	3	0.000599042	0.0023	0.0	5008	,	,		19950	0.0		0.0	False		,,,				2504	0.0				p.F73F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C219T	2						.			6,4400	11.4+/-27.6	0,6,2197	96.0	89.0	92.0		219	-4.2	0.0	2	dbSNP_132	92	0,8600		0,0,4300	yes	coding-synonymous	C2orf53	NM_178553.3		0,6,6497	AA,AG,GG		0.0,0.1362,0.0461		73/413	27360979	6,13000	2203	4300	6503	27214483	SO:0001819	synonymous_variant	339779	exon3																														ENST00000335524.3:c.219C>T	2.37:g.27360979G>A		Somatic		Capture	SOLID	Phase_I	27214483	NM_178553	Q86UE2	Silent	SNP	ENST00000335524.3	37	CCDS1739.1																																																																																				0.567	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1		
DNAJC5G	285126	hgsc.bcm.edu	37	2	27503072	27503072	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:27503072G>T	ENST00000296097.3	+	6	977	c.559G>T	c.(559-561)Gat>Tat	p.D187Y	DNAJC5G_ENST00000402462.1_Missense_Mutation_p.D187Y|TRIM54_ENST00000380075.2_5'Flank|TRIM54_ENST00000296098.4_5'Flank|DNAJC5G_ENST00000404433.1_Missense_Mutation_p.D171Y|DNAJC5G_ENST00000406962.1_Missense_Mutation_p.K99N	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	187						membrane (GO:0016020)		p.D187Y(1)		cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAATAGCGAAGATGATTTTTA	0.338											OREG0014517	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D187Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G559T	2						.						150.0	163.0	159.0					2																	27503072		2203	4300	6503	27356576	SO:0001583	missense	285126	exon6			AF368277	CCDS1744.1	2p23	2011-09-02			ENSG00000163793	ENSG00000163793		"""Heat shock proteins / DNAJ (HSP40)"""	24844	protein-coding gene	gene with protein product		613946					Standard	NM_173650		Approved	FLJ40417, CSP-gamma	uc002rjl.1	Q8N7S2	OTTHUMG00000097079	ENST00000296097.3:c.559G>T	2.37:g.27503072G>T	ENSP00000296097:p.Asp187Tyr	Somatic	794	Capture	SOLID	Phase_I	27356576	NM_173650	B4DY29|Q53SY5|Q8IYQ4|Q96RJ8	Missense_Mutation	SNP	ENST00000296097.3	37	CCDS1744.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.50|12.50	1.956293|1.956293	0.34565|0.34565	.|.	.|.	ENSG00000163793|ENSG00000163793	ENST00000296097;ENST00000402462;ENST00000404433|ENST00000406962	T;T;T|T	0.61742|0.54479	0.93;0.93;0.08|0.57	4.66|4.66	1.71|1.71	0.24356|0.24356	.|.	.|.	.|.	.|.	.|.	T|T	0.38772|0.38772	0.1053|0.1053	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	D|P	0.76494|0.46512	0.999|0.879	D|B	0.64595|0.42245	0.927|0.381	T|T	0.26360|0.26360	-1.0105|-1.0105	9|9	0.72032|0.87932	D|D	0.01|0	.|.	4.232|4.232	0.10608|0.10608	0.1965:0.0:0.6228:0.1807|0.1965:0.0:0.6228:0.1807	.|.	187|99	Q8N7S2|B4DY29	DNJ5G_HUMAN|.	Y|N	187;187;171|99	ENSP00000296097:D187Y;ENSP00000384305:D187Y;ENSP00000385829:D171Y|ENSP00000385533:K99N	ENSP00000296097:D187Y|ENSP00000385533:K99N	D|K	+|+	1|3	0|2	DNAJC5G|DNAJC5G	27356576|27356576	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.230000|0.230000	0.25150|0.25150	0.139000|0.139000	0.16036|0.16036	0.232000|0.232000	0.21100|0.21100	0.462000|0.462000	0.41574|0.41574	GAT|AAG		0.338	DNAJC5G-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214200.1	NM_173650	
SNX17	9784	hgsc.bcm.edu	37	2	27599553	27599553	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:27599553C>T	ENST00000233575.2	+	15	1602	c.1380C>T	c.(1378-1380)ttC>ttT	p.F460F	SNX17_ENST00000542478.1_Silent_p.F246F|ZNF513_ENST00000491924.1_5'Flank|SNX17_ENST00000543024.1_Silent_p.F246F|SNX17_ENST00000537606.1_Silent_p.F435F	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	460					cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)	p.F460F(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGGCAATTTCGCCTTCGAGG	0.542																																					p.F460F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1380T	2						.						104.0	92.0	96.0					2																	27599553		2203	4300	6503	27453057	SO:0001819	synonymous_variant	9784	exon15			D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"""Sorting nexins"""	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.1380C>T	2.37:g.27599553C>T		Somatic		Capture	SOLID	Phase_I	27453057	NM_014748	B4DQM7|Q53HN7|Q6IAS3	Silent	SNP	ENST00000233575.2	37	CCDS1750.1																																																																																				0.542	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1	NM_014748	
PLB1	151056	hgsc.bcm.edu	37	2	28823702	28823702	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:28823702T>G	ENST00000327757.5	+	36	2545	c.2501T>G	c.(2500-2502)cTg>cGg	p.L834R	PLB1_ENST00000422425.2_Missense_Mutation_p.L823R|PLB1_ENST00000541605.1_5'Flank	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	834	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.L834R(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTCCAaactctgatgcagaag	0.423																																					p.L823R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2468G	2						.						107.0	106.0	107.0					2																	28823702		2203	4300	6503	28677206	SO:0001583	missense	151056	exon35				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.2501T>G	2.37:g.28823702T>G	ENSP00000330442:p.Leu834Arg	Somatic		Capture	SOLID	Phase_I	28677206	NM_001170585	A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.62|10.62	1.400985|1.400985	0.25291|0.25291	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000327757;ENST00000422425|ENST00000404858	T;T|.	0.17213|.	2.29;2.29|.	5.25|5.25	5.25|5.25	0.73442|0.73442	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);|.	0.125083|.	0.36482|.	N|.	0.002562|.	D|.	0.85111|.	0.5622|.	H|H	0.94423|0.94423	3.535|3.535	0.80722|0.80722	D|D	1|1	P;P|.	0.39157|.	0.468;0.662|.	B;B|.	0.42625|.	0.273;0.393|.	D|.	0.88699|.	0.3214|.	10|.	0.87932|.	D|.	0|.	-10.8172|-10.8172	12.1096|12.1096	0.53831|0.53831	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	823;834|.	Q6P1J6-3;Q6P1J6|.	.;PLB1_HUMAN|.	R|G	834;823|822	ENSP00000330442:L834R;ENSP00000416440:L823R|.	ENSP00000330442:L834R|.	L|X	+|+	2|1	0|0	PLB1|PLB1	28677206|28677206	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.020000|0.020000	0.10135|0.10135	3.156000|3.156000	0.50708|0.50708	2.289000|2.289000	0.77006|0.77006	0.459000|0.459000	0.35465|0.35465	CTG|TGA		0.423	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2		
CLIP4	79745	hgsc.bcm.edu	37	2	29404589	29404589	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:29404589T>C	ENST00000320081.5	+	16	2203	c.1948T>C	c.(1948-1950)Tca>Cca	p.S650P	CLIP4_ENST00000404424.1_Missense_Mutation_p.S650P|CLIP4_ENST00000401617.2_Intron|CLIP4_ENST00000481628.1_3'UTR	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	650	CAP-Gly 3. {ECO:0000255|PROSITE- ProRule:PRU00045}.							p.S650P(1)		endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TGACTTTGCTTCAGGTATCTG	0.537																																					p.S650P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1948C	2						.						120.0	109.0	113.0					2																	29404589		2203	4300	6503	29258093	SO:0001583	missense	79745	exon16			AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.1948T>C	2.37:g.29404589T>C	ENSP00000327009:p.Ser650Pro	Somatic		Capture	SOLID	Phase_I	29258093	NM_024692	A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	ENST00000320081.5	37	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	T	4.266	0.048417	0.08243	.	.	ENSG00000115295	ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000530644	T;T	0.73469	-0.75;-0.75	5.6	1.72	0.24424	Cytoskeleton-associated protein, Gly-rich domain (4);Cytoskeleton-associated protein, Gly-rich conserved site (1);	0.263218	0.37261	N	0.002174	T	0.37046	0.0989	N	0.01352	-0.895	0.32290	N	0.566468	B	0.02656	0.0	B	0.06405	0.002	T	0.20806	-1.0264	9	.	.	.	.	3.6189	0.08087	0.0:0.2162:0.5064:0.2774	.	650	Q8N3C7	CLIP4_HUMAN	P	650;652;650;668;610	ENSP00000385594:S650P;ENSP00000327009:S650P	.	S	+	1	0	CLIP4	29258093	0.829000	0.29322	0.002000	0.10522	0.992000	0.81027	1.638000	0.37165	0.359000	0.24239	0.402000	0.26972	TCA		0.537	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692	
STRN	6801	hgsc.bcm.edu	37	2	37078159	37078159	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:37078159G>T	ENST00000263918.4	-	16	2078	c.2070C>A	c.(2068-2070)ttC>ttA	p.F690L	STRN_ENST00000379213.2_Missense_Mutation_p.F641L	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	690					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)	p.F690L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TGTTATCATAGAATTTGATGT	0.348																																					p.F690L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2070A	2						.						88.0	85.0	86.0					2																	37078159		2203	4300	6503	36931663	SO:0001583	missense	6801	exon16			AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.2070C>A	2.37:g.37078159G>T	ENSP00000263918:p.Phe690Leu	Somatic		Capture	SOLID	Phase_I	36931663	NM_003162	Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	ENST00000263918.4	37	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296430	0.81025	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.24151	1.87;1.87	5.89	4.11	0.48088	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.40171	0.1106	L	0.58969	1.84	0.58432	D	0.999999	D;D	0.65815	0.994;0.995	D;D	0.66847	0.944;0.947	T	0.14337	-1.0476	10	0.19590	T	0.45	-11.9734	9.7739	0.40607	0.2684:0.0:0.7316:0.0	.	641;690	O43815-2;O43815	.;STRN_HUMAN	L	690;665;641	ENSP00000263918:F690L;ENSP00000368513:F641L	ENSP00000263918:F690L	F	-	3	2	STRN	36931663	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.287000	0.59001	0.848000	0.35191	-0.253000	0.11424	TTC		0.348	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1		
CEBPZ	10153	hgsc.bcm.edu	37	2	37455758	37455758	+	Missense_Mutation	SNP	G	G	T	rs201042392		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:37455758G>T	ENST00000234170.5	-	2	723	c.578C>A	c.(577-579)tCt>tAt	p.S193Y		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	193					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.S193Y(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				GGGTTTCAAAGAATATTCATT	0.368													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19719	0.0		0.0	False		,,,				2504	0.0				p.S193Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C578A	2						.	G	TYR/SER	1,4405	2.1+/-5.4	0,1,2202	122.0	125.0	124.0		578	2.8	0.1	2		124	3,8597	3.7+/-12.6	0,3,4297	yes	missense	CEBPZ	NM_005760.2	144	0,4,6499	TT,TG,GG		0.0349,0.0227,0.0308	possibly-damaging	193/1055	37455758	4,13002	2203	4300	6503	37309262	SO:0001583	missense	10153	exon2			M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.578C>A	2.37:g.37455758G>T	ENSP00000234170:p.Ser193Tyr	Somatic		Capture	SOLID	Phase_I	37309262	NM_005760	Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	37	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778505	0.49786	2.27E-4	3.49E-4	ENSG00000115816	ENST00000234170;ENST00000545744;ENST00000446769	T;T	0.02656	4.21;4.21	5.66	2.8	0.32819	.	0.147080	0.53938	D	0.000053	T	0.08758	0.0217	M	0.68952	2.095	0.09310	N	1	D	0.55385	0.971	P	0.50617	0.646	T	0.04650	-1.0936	10	0.87932	D	0	.	16.7598	0.85509	0.0:0.3639:0.636:0.0	.	193	Q03701	CEBPZ_HUMAN	Y	193;193;144	ENSP00000234170:S193Y;ENSP00000391881:S144Y	ENSP00000234170:S193Y	S	-	2	0	CEBPZ	37309262	0.959000	0.32827	0.138000	0.22173	0.945000	0.59286	3.430000	0.52807	0.290000	0.22444	0.655000	0.94253	TCT		0.368	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760	
DHX57	90957	hgsc.bcm.edu	37	2	39088655	39088655	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:39088655C>A	ENST00000295373.6	-	5	1023	c.897G>T	c.(895-897)gaG>gaT	p.E299D	DHX57_ENST00000479345.2_5'UTR|AC018693.6_ENST00000442829.1_RNA	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	299							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.E299D(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CAAGTGAATTCTCTTGTACAT	0.358																																					p.E299D	Melanoma(191;1090 2095 4375 23729 47341)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G897T	2						.						81.0	82.0	81.0					2																	39088655		2203	4300	6503	38942159	SO:0001583	missense	90957	exon5			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.897G>T	2.37:g.39088655C>A	ENSP00000295373:p.Glu299Asp	Somatic		Capture	SOLID	Phase_I	38942159	NM_198963	A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	C	0.078	-1.188792	0.01607	.	.	ENSG00000163214	ENST00000295373;ENST00000355320	T	0.02837	4.14	5.78	0.666	0.17901	Zinc finger, CCCH-type (1);RWD domain (1);	0.382752	0.22169	N	0.063672	T	0.01387	0.0045	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.001	T	0.47235	-0.9133	10	0.14656	T	0.56	.	1.7288	0.02928	0.1179:0.3278:0.2908:0.2635	.	299;299	Q6P158-2;Q6P158	.;DHX57_HUMAN	D	299;197	ENSP00000295373:E299D	ENSP00000295373:E299D	E	-	3	2	DHX57	38942159	0.003000	0.15002	0.085000	0.20634	0.080000	0.17528	0.071000	0.14594	0.032000	0.15435	-1.087000	0.02190	GAG		0.358	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646	
SLC8A1	6546	hgsc.bcm.edu	37	2	40366763	40366763	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:40366763C>T	ENST00000403092.1	-	10	2356	c.2323G>A	c.(2323-2325)Gat>Aat	p.D775N	SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.D767N|SLC8A1_ENST00000406785.2_Missense_Mutation_p.D739N|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.D770N|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.D775N|SLC8A1_ENST00000406391.2_Missense_Mutation_p.D739N|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.D770N|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.D739N|SLC8A1_ENST00000542024.1_Missense_Mutation_p.D739N|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.D739N			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	775					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|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 the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.D775N(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ATCACGTAATCGAAACAGGAG	0.498																																					p.D762N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2284A	2						.						198.0	172.0	181.0					2																	40366763		2203	4300	6503	40220267	SO:0001583	missense	6546	exon7				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2323G>A	2.37:g.40366763C>T	ENSP00000384763:p.Asp775Asn	Somatic		Capture	SOLID	Phase_I	40220267	NM_001112801	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	31	5.068938	0.93950	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.32988	1.46;1.47;1.47;1.47;1.46;1.46;1.47;1.43;1.46;1.47	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.57799	0.2078	M	0.77406	2.37	0.80722	D	1	D;D;D;D	0.89917	0.992;1.0;1.0;1.0	D;D;D;D	0.97110	0.936;0.999;1.0;1.0	T	0.62685	-0.6802	10	0.72032	D	0.01	.	16.17	0.81801	0.0:1.0:0.0:0.0	.	739;762;770;775	P32418-2;P32418-3;F6VPY9;P32418	.;.;.;NAC1_HUMAN	N	739;775;770;775;770;739;739;775;767;762;739;739	ENSP00000383886:D739N;ENSP00000440727:D770N;ENSP00000384763:D775N;ENSP00000385678:D770N;ENSP00000385188:D739N;ENSP00000385535:D739N;ENSP00000332931:D775N;ENSP00000384908:D767N;ENSP00000385811:D739N;ENSP00000443515:D739N	ENSP00000332931:D775N	D	-	1	0	SLC8A1	40220267	1.000000	0.71417	0.989000	0.46669	0.978000	0.69477	7.711000	0.84669	2.391000	0.81399	0.563000	0.77884	GAT		0.498	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097	
RTN4	57142	hgsc.bcm.edu	37	2	55252285	55252285	+	Missense_Mutation	SNP	C	C	T	rs145032505	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:55252285C>T	ENST00000337526.6	-	3	3193	c.2950G>A	c.(2950-2952)Gat>Aat	p.D984N	RTN4_ENST00000394611.2_Missense_Mutation_p.D778N|RTN4_ENST00000405240.1_Missense_Mutation_p.D778N|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000354474.6_Missense_Mutation_p.D752N|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000404909.1_Missense_Mutation_p.D778N|RTN4_ENST00000357376.3_Missense_Mutation_p.D778N|RTN4_ENST00000357732.4_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	984					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.D778N(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TTTTCTGTATCGGAAGGAAGT	0.403													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18788	0.0		0.0	False		,,,				2504	0.0				p.D778N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2332A	2						.	C	ASN/ASP,,,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	128.0	125.0	126.0		2950,,,2332	3.7	0.1	2	dbSNP_134	126	0,8600		0,0,4300	no	missense,intron,intron,missense	RTN4	NM_020532.4,NM_153828.2,NM_207520.1,NM_207521.1	23,,,23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,,,possibly-damaging	984/1193,,,778/987	55252285	1,13005	2203	4300	6503	55105789	SO:0001583	missense	57142	exon3			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.2950G>A	2.37:g.55252285C>T	ENSP00000337838:p.Asp984Asn	Somatic		Capture	SOLID	Phase_I	55105789	NM_207521	O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	C	8.590	0.884284	0.17467	2.27E-4	0.0	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.18810	2.2;2.2;2.19;2.2;2.2;2.21	5.51	3.69	0.42338	.	1.106350	0.06602	N	0.754075	T	0.20170	0.0485	M	0.63428	1.95	0.09310	N	0.999999	P	0.48640	0.913	B	0.33121	0.158	T	0.25012	-1.0144	10	0.27785	T	0.31	-1.0E-4	9.8667	0.41148	0.0:0.6678:0.2612:0.071	.	984	Q9NQC3	RTN4_HUMAN	N	778;778;984;778;778;752	ENSP00000384471:D778N;ENSP00000349944:D778N;ENSP00000337838:D984N;ENSP00000378109:D778N;ENSP00000385650:D778N;ENSP00000346465:D752N	ENSP00000337838:D984N	D	-	1	0	RTN4	55105789	0.999000	0.42202	0.108000	0.21378	0.007000	0.05969	1.356000	0.34079	0.679000	0.31345	-0.176000	0.13171	GAT		0.403	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1		
CCDC88A	55704	hgsc.bcm.edu	37	2	55529164	55529164	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:55529164T>C	ENST00000436346.1	-	27	5357	c.4516A>G	c.(4516-4518)Aca>Gca	p.T1506A	CCDC88A_ENST00000413716.2_Missense_Mutation_p.T1505A|CCDC88A_ENST00000336838.6_Missense_Mutation_p.T1505A|CCDC88A_ENST00000263630.8_Missense_Mutation_p.T1478A|CCDC88A_ENST00000422883.2_Intron	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1506					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.T1478A(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						GTACTACCTGTCCACTGTCCT	0.423																																					p.T1478A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4432G	2						.						88.0	83.0	85.0					2																	55529164		2203	4300	6503	55382668	SO:0001583	missense	55704	exon26			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.4516A>G	2.37:g.55529164T>C	ENSP00000410608:p.Thr1506Ala	Somatic		Capture	SOLID	Phase_I	55382668	NM_018084	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.764|6.764	0.509797|0.509797	0.12883|0.12883	.|.	.|.	ENSG00000115355|ENSG00000115355	ENST00000456975|ENST00000336838;ENST00000263630;ENST00000436346;ENST00000412148;ENST00000413716;ENST00000426576	.|T;T;T;T;T;T	.|0.42513	.|2.48;2.78;2.7;0.97;2.48;1.39	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.298320	.|0.23795	.|U	.|0.044496	T|T	0.39145|0.39145	0.1067|0.1067	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B;B	.|0.16166	.|0.001;0.009;0.016;0.001;0.012;0.009	.|B;B;B;B;B;B	.|0.18561	.|0.002;0.022;0.014;0.002;0.01;0.022	T|T	0.16600|0.16600	-1.0397|-1.0397	5|10	.|0.22706	.|T	.|0.39	-2.7921|-2.7921	15.7254|15.7254	0.77751|0.77751	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1505;1478;1423;1506;1505;1477	.|B7ZM78;Q3V6T2-2;D6W5D1;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.|.;.;.;GRDN_HUMAN;.;.	G|A	458|1505;1478;1506;523;1505;681	.|ENSP00000338728:T1505A;ENSP00000263630:T1478A;ENSP00000410608:T1506A;ENSP00000390012:T523A;ENSP00000404431:T1505A;ENSP00000405080:T681A	.|ENSP00000263630:T1478A	D|T	-|-	2|1	0|0	CCDC88A|CCDC88A	55382668|55382668	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.521000|2.521000	0.45563|0.45563	2.180000|2.180000	0.69256|0.69256	0.378000|0.378000	0.23410|0.23410	GAC|ACA		0.423	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571	
CCDC88A	55704	hgsc.bcm.edu	37	2	55573329	55573329	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:55573329A>C	ENST00000436346.1	-	10	1864	c.1023T>G	c.(1021-1023)ttT>ttG	p.F341L	CCDC88A_ENST00000413716.2_Missense_Mutation_p.F341L|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.F341L|CCDC88A_ENST00000263630.8_Missense_Mutation_p.F341L	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	341					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.F341L(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						TTGCCTTATAAAATTCAATAT	0.318																																					p.F341L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1023G	2						.						143.0	137.0	139.0					2																	55573329		2203	4300	6503	55426833	SO:0001583	missense	55704	exon10			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.1023T>G	2.37:g.55573329A>C	ENSP00000410608:p.Phe341Leu	Somatic		Capture	SOLID	Phase_I	55426833	NM_018084	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37		.	.	.	.	.	.	.	.	.	.	A	19.71	3.879207	0.72294	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	5.26	5.26	0.73747	.	0.000000	0.49305	U	0.000147	T	0.29223	0.0727	L	0.45470	1.425	0.80722	D	1	P;D;D	0.61080	0.935;0.987;0.989	P;D;P	0.68039	0.74;0.955;0.89	T	0.02307	-1.1179	10	0.39692	T	0.17	-16.8701	7.9642	0.30089	0.8764:0.0:0.1236:0.0	.	341;341;341	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	L	341	ENSP00000338728:F341L;ENSP00000263630:F341L;ENSP00000410608:F341L;ENSP00000404431:F341L	ENSP00000263630:F341L	F	-	3	2	CCDC88A	55426833	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.338000	0.33873	1.986000	0.57962	0.533000	0.62120	TTT		0.318	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571	
OTX1	5013	hgsc.bcm.edu	37	2	63283384	63283384	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:63283384T>A	ENST00000282549.2	+	5	1274	c.998T>A	c.(997-999)cTc>cAc	p.L333H	OTX1_ENST00000366671.3_Missense_Mutation_p.L333H	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	333					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.L333H(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					GCCTGGAAACTCAACTTCAAC	0.567																																					p.L333H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T998A	2						.						63.0	60.0	61.0					2																	63283384		2203	4300	6503	63136888	SO:0001583	missense	5013	exon5				CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.998T>A	2.37:g.63283384T>A	ENSP00000282549:p.Leu333His	Somatic		Capture	SOLID	Phase_I	63136888	NM_001199770	A6NHA2|B3KTJ4|Q53TG6	Missense_Mutation	SNP	ENST00000282549.2	37	CCDS1873.1	.	.	.	.	.	.	.	.	.	.	T	18.87	3.715765	0.68844	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.94537	-3.45;-3.45	3.76	3.76	0.43208	.	0.000000	0.64402	D	0.000001	D	0.95582	0.8564	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.95642	0.8699	10	0.87932	D	0	.	11.8784	0.52560	0.0:0.0:0.0:1.0	.	333	P32242	OTX1_HUMAN	H	333	ENSP00000355631:L333H;ENSP00000282549:L333H	ENSP00000282549:L333H	L	+	2	0	OTX1	63136888	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.064000	0.71169	1.683000	0.51011	0.459000	0.35465	CTC		0.567	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1		
PLEK	5341	hgsc.bcm.edu	37	2	68613648	68613648	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:68613648G>T	ENST00000234313.7	+	5	666	c.487G>T	c.(487-489)Gat>Tat	p.D163Y		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	163	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)	p.D163Y(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		CTGCGTCATTGATTGGCTGGT	0.522																																					p.D163Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G487T	2						.						112.0	96.0	101.0					2																	68613648		2203	4300	6503	68467152	SO:0001583	missense	5341	exon5			X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.487G>T	2.37:g.68613648G>T	ENSP00000234313:p.Asp163Tyr	Somatic		Capture	SOLID	Phase_I	68467152	NM_002664	B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	ENST00000234313.7	37	CCDS1887.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398325	0.83120	.	.	ENSG00000115956	ENST00000234313	T	0.30981	1.51	5.38	5.38	0.77491	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.044137	0.85682	D	0.000000	T	0.60495	0.2273	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.983	T	0.65455	-0.6164	10	0.87932	D	0	.	19.1359	0.93428	0.0:0.0:1.0:0.0	.	181;163	Q59GZ2;P08567	.;PLEK_HUMAN	Y	163	ENSP00000234313:D163Y	ENSP00000234313:D163Y	D	+	1	0	PLEK	68467152	1.000000	0.71417	0.998000	0.56505	0.804000	0.45430	9.697000	0.98697	2.517000	0.84864	0.655000	0.94253	GAT		0.522	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664	
GKN2	200504	hgsc.bcm.edu	37	2	69173487	69173487	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:69173487T>G	ENST00000328895.4	-	5	529	c.421A>C	c.(421-423)Aaa>Caa	p.K141Q	GKN2_ENST00000481498.1_Missense_Mutation_p.K141Q	NM_182536.2	NP_872342.2	Q86XP6	GKN2_HUMAN	gastrokine 2	141	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					extracellular region (GO:0005576)		p.K141Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						TTGCAGAGTTTCTCAATGGGT	0.438																																					p.K141Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A421C	2						.						188.0	182.0	184.0					2																	69173487		2203	4300	6503	69026991	SO:0001583	missense	200504	exon5			AF494509	CCDS33215.1	2p14	2012-10-10			ENSG00000183607	ENSG00000183607		"""BRICHOS domain containing"""	24588	protein-coding gene	gene with protein product	"""down regulated in gastric cancer GDDR"", ""BRICHOS domain containing 1B"""					15774165, 15924415, 16888721	Standard	NM_182536		Approved	TFIZ1, PRO813, VLTI465, blottin, GDDR, BRICD1B	uc002sfa.3	Q86XP6	OTTHUMG00000152655	ENST00000328895.4:c.421A>C	2.37:g.69173487T>G	ENSP00000329292:p.Lys141Gln	Somatic		Capture	SOLID	Phase_I	69026991	NM_182536	Q6UWS6	Missense_Mutation	SNP	ENST00000328895.4	37	CCDS33215.1	.	.	.	.	.	.	.	.	.	.	T	0.735	-0.778379	0.02929	.	.	ENSG00000183607	ENST00000328895;ENST00000481498	T;T	0.79033	-1.23;-1.23	4.65	-3.65	0.04502	BRICHOS (2);	1.033880	0.07649	N	0.931523	T	0.43166	0.1235	N	0.00801	-1.175	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.10450	0.003;0.005	T	0.42447	-0.9451	10	0.09338	T	0.73	-24.977	10.0344	0.42120	0.0:0.1115:0.1809:0.7076	.	141;141	E5RHQ8;Q86XP6	.;GKN2_HUMAN	Q	141	ENSP00000329292:K141Q;ENSP00000428538:K141Q	ENSP00000329292:K141Q	K	-	1	0	GKN2	69026991	0.000000	0.05858	0.000000	0.03702	0.837000	0.47467	-0.581000	0.05820	-0.435000	0.07264	0.454000	0.30748	AAA		0.438	GKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327191.1	NM_182536	
DYSF	8291	hgsc.bcm.edu	37	2	71780215	71780215	+	Silent	SNP	T	T	C	rs2303596	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:71780215T>C	ENST00000258104.3	+	20	2104	c.1827T>C	c.(1825-1827)gaT>gaC	p.D609D	DYSF_ENST00000409366.1_Silent_p.D610D|DYSF_ENST00000413539.2_Silent_p.D640D|DYSF_ENST00000409744.1_Silent_p.D596D|DYSF_ENST00000409582.3_Silent_p.D626D|DYSF_ENST00000409762.1_Silent_p.D626D|DYSF_ENST00000429174.2_Silent_p.D609D|DYSF_ENST00000410020.3_Silent_p.D627D|DYSF_ENST00000394120.2_Silent_p.D610D|DYSF_ENST00000409651.1_Silent_p.D641D|DYSF_ENST00000410041.1_Silent_p.D627D	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	609					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ATGTGGATGATGCCATCCAGT	0.562													C|||	2882	0.575479	0.7753	0.6412	5008	,	,		19523	0.2222		0.7336	False		,,,				2504	0.4601				p.D626D												.	.	0			c.T1878C	2						.	C	,,,,,,,,,,,,,	3451,955	363.9+/-316.7	1351,749,103	120.0	97.0	105.0		1830,1785,1785,1827,1920,1878,1878,1923,1830,1788,1881,1788,1881,1827	-1.7	0.4	2	dbSNP_100	105	6107,2493	409.6+/-349.9	2178,1751,371	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DYSF	NM_001130455.1,NM_001130976.1,NM_001130977.1,NM_001130978.1,NM_001130979.1,NM_001130980.1,NM_001130981.1,NM_001130982.1,NM_001130983.1,NM_001130984.1,NM_001130985.1,NM_001130986.1,NM_001130987.1,NM_003494.3	,,,,,,,,,,,,,	3529,2500,474	CC,CT,TT		28.9884,21.675,26.5108	,,,,,,,,,,,,,	610/2082,595/2067,595/2088,609/2102,640/2112,626/2098,626/2119,641/2113,610/2103,596/2089,627/2099,596/2068,627/2120,609/2081	71780215	9558,3448	2203	4300	6503	71633723	SO:0001819	synonymous_variant	8291	exon20			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.1827T>C	2.37:g.71780215T>C		Somatic		Capture	SOLID	Phase_I	71633723	NM_001130981	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	CCDS1918.1																																																																																				0.562	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	
DYSF	8291	hgsc.bcm.edu	37	2	71840505	71840505	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:71840505G>A	ENST00000258104.3	+	40	4652	c.4375G>A	c.(4375-4377)Gac>Aac	p.D1459N	DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Missense_Mutation_p.D1460N|DYSF_ENST00000413539.2_Missense_Mutation_p.D1490N|DYSF_ENST00000409744.1_Missense_Mutation_p.D1446N|DYSF_ENST00000409582.3_Missense_Mutation_p.D1476N|DYSF_ENST00000409762.1_Missense_Mutation_p.D1476N|DYSF_ENST00000429174.2_Missense_Mutation_p.D1459N|DYSF_ENST00000410020.3_Missense_Mutation_p.D1477N|DYSF_ENST00000394120.2_Missense_Mutation_p.D1460N|DYSF_ENST00000409651.1_Missense_Mutation_p.D1491N|DYSF_ENST00000410041.1_Missense_Mutation_p.D1477N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1459					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.D1459N(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CGTGCTCATCGACATTGATGA	0.597																																					p.D1476N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4426A	2						.						68.0	51.0	57.0					2																	71840505		2203	4300	6503	71694013	SO:0001583	missense	8291	exon40			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4375G>A	2.37:g.71840505G>A	ENSP00000258104:p.Asp1459Asn	Somatic		Capture	SOLID	Phase_I	71694013	NM_001130981	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988185	0.74589	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.65;-1.66;-1.7;-1.69;-1.7;-1.65;-1.65;-1.65;-1.7	5.12	5.12	0.69794	.	0.154610	0.56097	D	0.000026	D	0.84515	0.5489	L	0.29908	0.895	0.58432	D	0.999998	B;D;D;D;D;P;P;P;P;D;P;P;D;D;D	0.76494	0.118;0.994;0.994;0.994;0.994;0.552;0.552;0.552;0.552;0.994;0.72;0.741;0.999;0.994;0.99	B;P;P;P;P;B;B;B;B;P;B;B;D;P;P	0.65443	0.048;0.853;0.888;0.853;0.853;0.127;0.087;0.127;0.127;0.853;0.232;0.219;0.935;0.853;0.717	T	0.81254	-0.1016	10	0.21540	T	0.41	-28.7896	16.4177	0.83748	0.0:0.0:1.0:0.0	.	202;1491;1477;1460;1446;1477;1446;1476;1445;1490;1476;1459;1445;1460;1459	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	N	1490;1476;1476;1459;1459;1491;1460;1446;1460;1477;1477	ENSP00000407046:D1490N;ENSP00000387137:D1476N;ENSP00000386547:D1476N;ENSP00000398305:D1459N;ENSP00000258104:D1459N;ENSP00000386683:D1491N;ENSP00000377678:D1460N;ENSP00000386285:D1446N;ENSP00000386512:D1460N;ENSP00000386881:D1477N;ENSP00000386617:D1477N	ENSP00000258104:D1459N	D	+	1	0	DYSF	71694013	1.000000	0.71417	0.985000	0.45067	0.923000	0.55619	6.459000	0.73513	2.576000	0.86940	0.561000	0.74099	GAC		0.597	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	
TEKT4	150483	hgsc.bcm.edu	37	2	95542363	95542363	+	Missense_Mutation	SNP	C	C	G	rs112631866	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:95542363C>G	ENST00000295201.4	+	6	1294	c.1157C>G	c.(1156-1158)gCg>gGg	p.A386G	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	386					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.A386G(1)|p.A386E(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTTCTAGAAGCGGAGCAGTCC	0.597																																					p.A386G												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C1157G	2						.						58.0	47.0	51.0					2																	95542363		2203	4300	6503	94906090	SO:0001583	missense	150483	exon6			AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.1157C>G	2.37:g.95542363C>G	ENSP00000295201:p.Ala386Gly	Somatic		Capture	SOLID	Phase_I	94906090	NM_144705		Missense_Mutation	SNP	ENST00000295201.4	37	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	17.94	3.510868	0.64522	.	.	ENSG00000163060	ENST00000295201	T	0.03441	3.93	2.43	2.43	0.29744	.	0.125962	0.52532	D	0.000066	T	0.18923	0.0454	M	0.91972	3.26	0.80722	D	1	D	0.59767	0.986	D	0.63877	0.919	T	0.02925	-1.1093	10	0.87932	D	0	-13.8877	10.5484	0.45072	0.0:1.0:0.0:0.0	.	386	Q8WW24	TEKT4_HUMAN	G	386	ENSP00000295201:A386G	ENSP00000295201:A386G	A	+	2	0	TEKT4	94906090	0.200000	0.23398	1.000000	0.80357	0.487000	0.33371	4.806000	0.62569	1.049000	0.40321	0.281000	0.19383	GCG		0.597	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705	
ACTR1B	10120	hgsc.bcm.edu	37	2	98277048	98277048	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:98277048C>A	ENST00000289228.5	-	3	391	c.175G>T	c.(175-177)Gga>Tga	p.G59*		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	59					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)	p.G59*(1)		endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						GCTTTTGGTCCGATGAAGAGG	0.617																																					p.G59X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G175T	2						.						145.0	137.0	140.0					2																	98277048		2203	4300	6503	97643480	SO:0001587	stop_gained	10120	exon3			X82207	CCDS2033.1	2q11.1-q11.2	2008-05-20	2001-11-28		ENSG00000115073	ENSG00000115073			168	protein-coding gene	gene with protein product		605144	"""ARP1 (actin-related protein 1, yeast) homolog B (centractin beta)"""	CTRN2		7696711, 10343100	Standard	NM_005735		Approved		uc002syb.2	P42025	OTTHUMG00000130549	ENST00000289228.5:c.175G>T	2.37:g.98277048C>A	ENSP00000289228:p.Gly59*	Somatic		Capture	SOLID	Phase_I	97643480	NM_005735	D3DVH2|Q53SK5|Q9BRB7	Nonsense_Mutation	SNP	ENST00000289228.5	37	CCDS2033.1	.	.	.	.	.	.	.	.	.	.	.	36	5.799708	0.96960	.	.	ENSG00000115073	ENST00000289228	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.8234	0.85924	0.0:1.0:0.0:0.0	.	.	.	.	X	59	.	ENSP00000289228:G59X	G	-	1	0	ACTR1B	97643480	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	7.795000	0.85887	2.591000	0.87537	0.561000	0.74099	GGA		0.617	ACTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252973.1	NM_005735	
COL6A3	1293	hgsc.bcm.edu	37	2	238253457	238253457	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:238253457C>A	ENST00000295550.4	-	36	7656	c.7204G>T	c.(7204-7206)Gaa>Taa	p.E2402*	COL6A3_ENST00000346358.4_Nonsense_Mutation_p.E2202*|COL6A3_ENST00000409809.1_Nonsense_Mutation_p.E2196*|COL6A3_ENST00000472056.1_Nonsense_Mutation_p.E1795*|COL6A3_ENST00000347401.3_Nonsense_Mutation_p.E2201*|COL6A3_ENST00000353578.4_Nonsense_Mutation_p.E2196*	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2402	Nonhelical region.|VWFA 11. {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.E2402*(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)		AAGGCTAGTTCTGTTGGGAAG	0.502																																					p.E2196X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G6586T	2						.						77.0	85.0	82.0					2																	238253457		2202	4300	6502	237918196	SO:0001587	stop_gained	1293	exon35			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7204G>T	2.37:g.238253457C>A	ENSP00000295550:p.Glu2402*	Somatic		Capture	SOLID	Phase_I	237918196	NM_057167	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Nonsense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	46	12.685559	0.99688	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	.	.	.	5.22	5.22	0.72569	.	0.000000	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.7966	0.91997	0.0:1.0:0.0:0.0	.	.	.	.	X	2402;2201;2196;1795;2196;2202	.	ENSP00000295550:E2402X	E	-	1	0	COL6A3	237918196	1.000000	0.71417	0.729000	0.30791	0.217000	0.24651	7.674000	0.83992	2.427000	0.82271	0.655000	0.94253	GAA		0.502	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
GABBR2	9568	hgsc.bcm.edu	37	9	101168385	101168385	+	Silent	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr9:101168385G>T	ENST00000259455.2	-	8	1734	c.1275C>A	c.(1273-1275)acC>acA	p.T425T		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	425					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)	p.T425T(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TAAATTTAATGGTCCCCATTC	0.328																																					p.T425T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1275A	9						.						98.0	94.0	96.0					9																	101168385		2203	4300	6503	100208206	SO:0001819	synonymous_variant	9568	exon8			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.1275C>A	9.37:g.101168385G>T		Somatic		Capture	SOLID	Phase_I	100208206	NM_005458	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Silent	SNP	ENST00000259455.2	37	CCDS6736.1																																																																																				0.328	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1		
ACTL7A	10881	hgsc.bcm.edu	37	9	111625501	111625501	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr9:111625501G>A	ENST00000333999.3	+	1	899	c.899G>A	c.(898-900)cGc>cAc	p.R300H		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	300						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)	p.R300H(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CATACGATCCGCTACGTGCTG	0.537																																					p.R300H	Esophageal Squamous(177;1480 3591 17554)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G899A	9						.						98.0	79.0	85.0					9																	111625501		2203	4300	6503	110665322	SO:0001583	missense	10881	exon1			BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.899G>A	9.37:g.111625501G>A	ENSP00000334300:p.Arg300His	Somatic		Capture	SOLID	Phase_I	110665322	NM_006687	B2RC83|Q5JSV0	Missense_Mutation	SNP	ENST00000333999.3	37	CCDS6772.1	.	.	.	.	.	.	.	.	.	.	G	5.576	0.291174	0.10567	.	.	ENSG00000187003	ENST00000333999	D	0.94376	-3.41	5.69	0.41	0.16387	.	1.345840	0.04999	N	0.468696	D	0.83631	0.5296	N	0.04355	-0.22	0.22581	N	0.998962	B	0.02656	0.0	B	0.06405	0.002	T	0.72988	-0.4124	10	0.87932	D	0	.	4.625	0.12474	0.5943:0.1553:0.2504:0.0	.	300	Q9Y615	ACL7A_HUMAN	H	300	ENSP00000334300:R300H	ENSP00000334300:R300H	R	+	2	0	ACTL7A	110665322	0.941000	0.31946	0.075000	0.20258	0.005000	0.04900	1.337000	0.33862	-0.057000	0.13199	-0.290000	0.09829	CGC		0.537	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053570.1	NM_006687	
OR2K2	26248	hgsc.bcm.edu	37	9	114089774	114089774	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr9:114089774C>T	ENST00000374428.1	-	1	1026	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	OR2K2_ENST00000302681.1_Missense_Mutation_p.E314K			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	343						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E314K(1)|p.E343K(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						CAGAGATGTTCGTGTGTTTGA	0.408																																					p.E314K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G940A	9						.						110.0	94.0	99.0					9																	114089774		2203	4300	6503	113129595	SO:0001583	missense	26248	exon1			X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"""GPCR / Class A : Olfactory receptors"""	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.1027G>A	9.37:g.114089774C>T	ENSP00000363550:p.Glu343Lys	Somatic		Capture	SOLID	Phase_I	113129595	NM_205859	Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	ENST00000374428.1	37		.	.	.	.	.	.	.	.	.	.	C	4.937	0.174108	0.09391	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.09817	2.94;3.02	4.54	3.62	0.41486	.	.	.	.	.	T	0.04952	0.0133	N	0.08118	0	0.09310	N	1	B	0.28783	0.222	B	0.17098	0.017	T	0.31420	-0.9944	9	0.07990	T	0.79	.	12.5271	0.56093	0.0:0.8307:0.1693:0.0	.	343	Q8NGT1	OR2K2_HUMAN	K	314;343	ENSP00000305055:E314K;ENSP00000363550:E343K	ENSP00000305055:E314K	E	-	1	0	OR2K2	113129595	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.453000	0.06778	1.233000	0.43693	0.655000	0.94253	GAA		0.408	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859	
OR2K2	26248	hgsc.bcm.edu	37	9	114090322	114090322	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr9:114090322C>T	ENST00000374428.1	-	1	478	c.479G>A	c.(478-480)aGa>aAa	p.R160K	OR2K2_ENST00000302681.1_Missense_Mutation_p.R131K			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R160K(1)|p.R131K(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GATGGAGTATCTCAGCGGGTT	0.557																																					p.R131K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G392A	9						.						109.0	86.0	94.0					9																	114090322		2203	4300	6503	113130143	SO:0001583	missense	26248	exon1			X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"""GPCR / Class A : Olfactory receptors"""	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.479G>A	9.37:g.114090322C>T	ENSP00000363550:p.Arg160Lys	Somatic		Capture	SOLID	Phase_I	113130143	NM_205859	Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	ENST00000374428.1	37		.	.	.	.	.	.	.	.	.	.	C	16.68	3.191731	0.58017	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.02140	4.43;4.43	4.92	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.182497	0.25561	U	0.029826	T	0.05456	0.0144	M	0.90082	3.085	0.29069	N	0.883381	P	0.39535	0.677	B	0.33254	0.16	T	0.07083	-1.0791	10	0.66056	D	0.02	.	11.3311	0.49477	0.0:0.9114:0.0:0.0886	.	160	Q8NGT1	OR2K2_HUMAN	K	131;160	ENSP00000305055:R131K;ENSP00000363550:R160K	ENSP00000305055:R131K	R	-	2	0	OR2K2	113130143	0.000000	0.05858	0.999000	0.59377	0.858000	0.48976	-0.331000	0.07914	1.461000	0.47929	-0.229000	0.12294	AGA		0.557	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859	
C9orf43	257169	hgsc.bcm.edu	37	9	116187694	116187694	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr9:116187694G>T	ENST00000288462.4	+	10	1382	c.936G>T	c.(934-936)aaG>aaT	p.K312N	C9orf43_ENST00000374165.1_Missense_Mutation_p.K312N	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	312								p.K312N(1)		breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						CACCTATTAAGAAACAGGTAG	0.532																																					p.K312N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G936T	9						.						66.0	61.0	63.0					9																	116187694		2203	4300	6503	115227515	SO:0001583	missense	257169	exon10			BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.936G>T	9.37:g.116187694G>T	ENSP00000288462:p.Lys312Asn	Somatic		Capture	SOLID	Phase_I	115227515	NM_152786		Missense_Mutation	SNP	ENST00000288462.4	37	CCDS6796.1	.	.	.	.	.	.	.	.	.	.	G	1.289	-0.608016	0.03717	.	.	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.52057	0.68;0.68	4.05	-0.0519	0.13824	.	1.386070	0.04826	N	0.437893	T	0.23171	0.0560	N	0.03608	-0.345	0.09310	N	1	B	0.14805	0.011	B	0.16289	0.015	T	0.16719	-1.0393	10	0.45353	T	0.12	0.0797	2.964	0.05902	0.0989:0.3384:0.3887:0.1739	.	312	Q8TAL5	CI043_HUMAN	N	312	ENSP00000363280:K312N;ENSP00000288462:K312N	ENSP00000288462:K312N	K	+	3	2	C9orf43	115227515	0.156000	0.22821	0.034000	0.17996	0.075000	0.17131	0.868000	0.27982	-0.010000	0.14271	-1.468000	0.01013	AAG		0.532	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786	
TNC	3371	hgsc.bcm.edu	37	9	117819569	117819569	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr9:117819569G>T	ENST00000350763.4	-	15	4853	c.4442C>A	c.(4441-4443)aCt>aAt	p.T1481N	TNC_ENST00000423613.2_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000481475.1_5'Flank|TNC_ENST00000341037.4_Missense_Mutation_p.T1390N|TNC_ENST00000542877.1_Missense_Mutation_p.T1117N|TNC_ENST00000340094.3_Missense_Mutation_p.T1117N|TNC_ENST00000535648.1_Missense_Mutation_p.T1117N|TNC_ENST00000346706.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1481	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.T1481N(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ATATTCCACAGTCTCCAGCAA	0.463																																					p.T1481N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4442A	9						.						145.0	152.0	150.0					9																	117819569		2203	4300	6503	116859390	SO:0001583	missense	3371	exon15				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.4442C>A	9.37:g.117819569G>T	ENSP00000265131:p.Thr1481Asn	Somatic		Capture	SOLID	Phase_I	116859390	NM_002160	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.160|7.160	0.585478|0.585478	0.13749|0.13749	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000544972|ENST00000340094;ENST00000535648;ENST00000350763;ENST00000341037;ENST00000542877	.|T;T;T;T;T	.|0.57752	.|0.38;0.38;0.38;0.38;0.38	5.8|5.8	0.697|0.697	0.18081|0.18081	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.459681	.|0.24623	.|N	.|0.036952	T|T	0.51500|0.51500	0.1678|0.1678	L|L	0.55481|0.55481	1.735|1.735	0.51233|0.51233	D|D	0.999912|0.999912	.|P	.|0.35107	.|0.484	.|P	.|0.46299	.|0.511	T|T	0.31943|0.31943	-0.9925|-0.9925	5|10	.|0.19147	.|T	.|0.46	.|.	9.3014|9.3014	0.37847|0.37847	0.2347:0.1:0.6653:0.0|0.2347:0.1:0.6653:0.0	.|.	.|1481	.|P24821	.|TENA_HUMAN	E|N	134|1117;1117;1481;1390;1117	.|ENSP00000344400:T1117N;ENSP00000438152:T1117N;ENSP00000265131:T1481N;ENSP00000339553:T1390N;ENSP00000442242:T1117N	.|ENSP00000344400:T1117N	D|T	-|-	3|2	2|0	TNC|TNC	116859390|116859390	0.965000|0.965000	0.33210|0.33210	0.010000|0.010000	0.14722|0.14722	0.496000|0.496000	0.33645|0.33645	1.597000|1.597000	0.36729|0.36729	-0.360000|-0.360000	0.08138|0.08138	-1.119000|-1.119000	0.02030|0.02030	GAC|ACT		0.463	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160	
OR1L8	138881	hgsc.bcm.edu	37	9	125330545	125330545	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr9:125330545T>C	ENST00000304865.2	-	1	293	c.212A>G	c.(211-213)gAt>gGt	p.D71G		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D71G(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AAAGCAAATATCAGTGAGAGA	0.448																																					p.D71G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A212G	9						.						81.0	87.0	85.0					9																	125330545		2203	4300	6503	124370366	SO:0001583	missense	138881	exon1				CCDS35124.1	9q33.2	2013-09-20			ENSG00000171496	ENSG00000171496		"""GPCR / Class A : Olfactory receptors"""	15110	protein-coding gene	gene with protein product							Standard	NM_001004454		Approved		uc004bmp.1	Q8NGR8	OTTHUMG00000020609	ENST00000304865.2:c.212A>G	9.37:g.125330545T>C	ENSP00000306607:p.Asp71Gly	Somatic		Capture	SOLID	Phase_I	124370366	NM_001004454	A3KFM3|B9EIR6|Q6IF15|Q96R79	Missense_Mutation	SNP	ENST00000304865.2	37	CCDS35124.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.598780	0.46318	.	.	ENSG00000171496	ENST00000304865	T	0.01172	5.23	4.39	4.39	0.52855	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000197	T	0.05318	0.0141	H	0.94620	3.56	0.38663	D	0.952111	P	0.42409	0.779	P	0.44518	0.452	T	0.01484	-1.1343	10	0.87932	D	0	-20.4266	13.1468	0.59467	0.0:0.0:0.0:1.0	.	71	Q8NGR8	OR1L8_HUMAN	G	71	ENSP00000306607:D71G	ENSP00000306607:D71G	D	-	2	0	OR1L8	124370366	1.000000	0.71417	0.915000	0.36163	0.898000	0.52572	5.719000	0.68462	2.009000	0.58944	0.369000	0.22263	GAT		0.448	OR1L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053939.1		
ARPC5L	81873	hgsc.bcm.edu	37	9	127636028	127636028	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr9:127636028G>T	ENST00000353214.2	+	4	1459	c.207G>T	c.(205-207)aaG>aaT	p.K69N	ARPC5L_ENST00000259477.6_Missense_Mutation_p.K69N|ARPC5L_ENST00000465124.1_3'UTR			Q9BPX5	ARP5L_HUMAN	actin related protein 2/3 complex, subunit 5-like	69					regulation of actin filament polymerization (GO:0030833)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)		p.K69N(1)		large_intestine(2)|lung(1)	3						TCAACACCAAGAATCAAGCTG	0.577																																					p.K69N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G207T	9						.						161.0	135.0	144.0					9																	127636028		2203	4300	6503	126675849	SO:0001583	missense	81873	exon2			AF087842	CCDS6859.1	9q34.11	2011-07-06			ENSG00000136950	ENSG00000136950		"""Actin related protein 2/3 complex subunits"""	23366	protein-coding gene	gene with protein product							Standard	NM_030978		Approved	MGC3038, ARC16-2	uc004bpa.4	Q9BPX5	OTTHUMG00000020660	ENST00000353214.2:c.207G>T	9.37:g.127636028G>T	ENSP00000345361:p.Lys69Asn	Somatic		Capture	SOLID	Phase_I	126675849	NM_030978	Q7Z523	Missense_Mutation	SNP	ENST00000353214.2	37	CCDS6859.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018741	0.93404	.	.	ENSG00000136950	ENST00000353214;ENST00000259477	.	.	.	5.85	5.85	0.93711	.	0.057949	0.64402	D	0.000007	T	0.68210	0.2976	L	0.61036	1.89	0.80722	D	1	P;P	0.49559	0.914;0.925	P;P	0.54270	0.712;0.747	T	0.70608	-0.4825	9	0.87932	D	0	-13.397	15.1561	0.72743	0.0:0.1417:0.8582:0.0	.	69;69	B3KPC7;Q9BPX5	.;ARP5L_HUMAN	N	69	.	ENSP00000259477:K69N	K	+	3	2	ARPC5L	126675849	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.326000	0.72905	2.755000	0.94549	0.655000	0.94253	AAG		0.577	ARPC5L-002	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054041.1	NM_030978	
DNM1	1759	hgsc.bcm.edu	37	9	130984755	130984755	+	Silent	SNP	C	C	T	rs3003609	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr9:130984755C>T	ENST00000372923.3	+	8	1100	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	DNM1_ENST00000393594.3_Silent_p.F336F|DNM1_ENST00000341179.7_Silent_p.F336F|DNM1_ENST00000486160.1_Silent_p.F336F|DNM1_ENST00000475805.1_Silent_p.F336F	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	336					endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						TCCAGCAGTTCGCCGTAGACT	0.617													C|||	2277	0.454673	0.056	0.6326	5008	,	,		18307	0.6121		0.5616	False		,,,				2504	0.5951				p.F336F	GBM(113;146 1575 2722 28670 29921)											.	.	0			c.C1008T	9						.	C	,	596,3810	261.3+/-264.2	44,508,1651	64.0	61.0	62.0		1008,1008	-5.5	0.5	9	dbSNP_101	62	4662,3938	603.7+/-394.7	1268,2126,906	no	coding-synonymous,coding-synonymous	DNM1	NM_001005336.1,NM_004408.2	,	1312,2634,2557	TT,TC,CC		45.7907,13.527,40.4275	,	336/852,336/865	130984755	5258,7748	2203	4300	6503	130024576	SO:0001819	synonymous_variant	1759	exon8			L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.1008C>T	9.37:g.130984755C>T		Somatic		Capture	SOLID	Phase_I	130024576	NM_001005336	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Silent	SNP	ENST00000372923.3	37	CCDS6895.1																																																																																				0.617	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408	
INSL6	11172	hgsc.bcm.edu	37	9	5164118	5164118	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr9:5164118T>G	ENST00000381641.3	-	2	502	c.437A>C	c.(436-438)aAa>aCa	p.K146T	INSL6_ENST00000510407.1_Intron	NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	146				K -> F (in Ref. 2; AAD39003). {ECO:0000305}.	fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.K146T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		CTTCTGAAATTTTGCATTCTC	0.333																																					p.K146T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A437C	9						.						86.0	82.0	83.0					9																	5164118		2202	4299	6501	5154118	SO:0001583	missense	11172	exon2			AF156094	CCDS6458.1	9p24	2008-07-21			ENSG00000120210	ENSG00000120210			6089	protein-coding gene	gene with protein product	"""relaxin/insulin-like factor 1"""	606414				10819760	Standard	NM_007179		Approved	RIF1	uc003zix.3	Q9Y581	OTTHUMG00000019489	ENST00000381641.3:c.437A>C	9.37:g.5164118T>G	ENSP00000371054:p.Lys146Thr	Somatic		Capture	SOLID	Phase_I	5154118	NM_007179	A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000381641.3	37	CCDS6458.1	.	.	.	.	.	.	.	.	.	.	T	12.78	2.040345	0.35989	.	.	ENSG00000120210	ENST00000381641	T	0.51817	0.69	4.35	2.03	0.26663	Insulin-like (3);	0.597447	0.16898	N	0.195024	T	0.38268	0.1034	L	0.29908	0.895	0.09310	N	1	P	0.41748	0.761	P	0.46049	0.502	T	0.19063	-1.0317	10	0.66056	D	0.02	-8.0527	5.8431	0.18645	0.0:0.2103:0.0:0.7897	.	146	Q9Y581	INSL6_HUMAN	T	146	ENSP00000371054:K146T	ENSP00000371054:K146T	K	-	2	0	INSL6	5154118	0.001000	0.12720	0.001000	0.08648	0.031000	0.12232	0.366000	0.20365	0.452000	0.26830	0.482000	0.46254	AAA		0.333	INSL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051608.3	NM_007179	
RANBP6	26953	hgsc.bcm.edu	37	9	6012763	6012763	+	Missense_Mutation	SNP	G	G	A	rs147043824		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr9:6012763G>A	ENST00000259569.5	-	1	2855	c.2845C>T	c.(2845-2847)Cgt>Tgt	p.R949C	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	949					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R949C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CATAAAGAACGATAATCATCT	0.413																																					p.R949C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2845T	9						.	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	79.0	72.0	74.0		2845	3.7	1.0	9	dbSNP_134	74	0,8600		0,0,4300	no	missense	RANBP6	NM_012416.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	949/1106	6012763	1,13005	2203	4300	6503	6002763	SO:0001583	missense	26953	exon1			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2845C>T	9.37:g.6012763G>A	ENSP00000259569:p.Arg949Cys	Somatic		Capture	SOLID	Phase_I	6002763	NM_012416	Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027443	0.54683	2.27E-4	0.0	ENSG00000137040	ENST00000259569	T	0.10288	2.89	4.56	3.65	0.41850	Armadillo-like helical (1);Armadillo-type fold (1);	0.111224	0.64402	D	0.000013	T	0.19685	0.0473	M	0.72894	2.215	0.80722	D	1	D;D;D	0.61697	0.978;0.99;0.99	P;P;P	0.49361	0.608;0.586;0.608	T	0.03148	-1.1067	10	0.45353	T	0.12	-7.9828	13.0586	0.58994	0.0:0.163:0.837:0.0	.	116;537;949	B4E340;B4DTX6;O60518	.;.;RNBP6_HUMAN	C	949	ENSP00000259569:R949C	ENSP00000259569:R949C	R	-	1	0	RANBP6	6002763	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.967000	0.56802	1.507000	0.48752	0.650000	0.86243	CGT		0.413	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416	
NFIB	4781	hgsc.bcm.edu	37	9	14307412	14307412	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr9:14307412C>T	ENST00000380959.3	-	2	611	c.138G>A	c.(136-138)gaG>gaA	p.E46E	NFIB_ENST00000380934.4_Silent_p.E72E|NFIB_ENST00000380953.1_Silent_p.E46E|NFIB_ENST00000380921.3_Silent_p.E46E|NFIB_ENST00000397581.2_Silent_p.E46E|NFIB_ENST00000397575.3_Silent_p.E46E|NFIB_ENST00000397579.2_Silent_p.E46E	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	46					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.E46E(2)		central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		ACATTCGCTTCTCATGCTTTT	0.453			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																p.E72E	Esophageal Squamous(132;921 1730 14828 40753 46471)		Dom	yes		9	9p24.1	4781	nuclear factor I/B		E	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G216A	9						.						131.0	122.0	125.0					9																	14307412		2203	4300	6503	14297412	SO:0001819	synonymous_variant	4781	exon2			U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.138G>A	9.37:g.14307412C>T		Somatic		Capture	SOLID	Phase_I	14297412	NM_001190738	G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Silent	SNP	ENST00000380959.3	37	CCDS6474.1																																																																																				0.453	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596	
CCDC171	203238	hgsc.bcm.edu	37	9	15695284	15695284	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr9:15695284G>T	ENST00000380701.3	+	11	1595	c.1267G>T	c.(1267-1269)Gaa>Taa	p.E423*	CCDC171_ENST00000297641.3_Nonsense_Mutation_p.E423*	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	423								p.E423*(1)									TAACGTGAAAGAATTGGAATC	0.383																																					p.E423X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1267T	9						.						165.0	155.0	158.0					9																	15695284		2203	4300	6503	15685284	SO:0001587	stop_gained	203238	exon11			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.1267G>T	9.37:g.15695284G>T	ENSP00000370077:p.Glu423*	Somatic		Capture	SOLID	Phase_I	15685284	NM_173550	B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Nonsense_Mutation	SNP	ENST00000380701.3	37	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	G	42	9.260563	0.99117	.	.	ENSG00000164989	ENST00000297641;ENST00000380701	.	.	.	5.55	5.55	0.83447	.	0.186312	0.47852	D	0.000212	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-17.9067	19.4782	0.94998	0.0:0.0:1.0:0.0	.	.	.	.	X	423	.	ENSP00000297641:E423X	E	+	1	0	C9orf93	15685284	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.880000	0.69698	2.610000	0.88304	0.591000	0.81541	GAA		0.383	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550	
PLAA	9373	hgsc.bcm.edu	37	9	26926493	26926493	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr9:26926493C>A	ENST00000397292.3	-	5	1048	c.631G>T	c.(631-633)Gat>Tat	p.D211Y	PLAA_ENST00000520884.1_Missense_Mutation_p.D211Y	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	211					inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)	p.D154Y(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		ATACTAGCATCATTTGCACAG	0.333																																					p.D211Y	Melanoma(175;2670 2735 14091 35526)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G631T	9						.						95.0	99.0	98.0					9																	26926493		2203	4300	6503	26916493	SO:0001583	missense	9373	exon5			AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.631G>T	9.37:g.26926493C>A	ENSP00000380460:p.Asp211Tyr	Somatic		Capture	SOLID	Phase_I	26916493	NM_001031689	Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	CCDS35000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.028668|4.028668	0.75390|0.75390	.|.	.|.	ENSG00000137055|ENSG00000137055	ENST00000397292;ENST00000520884|ENST00000523212	D;D|.	0.89415|.	-2.51;-2.51|.	4.83|4.83	4.83|4.83	0.62350|0.62350	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.91257|.	0.7244|.	H|H	0.99074|0.99074	4.42|4.42	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.77004|.	0.965;0.989|.	D|.	0.95282|.	0.8387|.	10|.	0.87932|.	D|.	0|.	-4.1124|-4.1124	17.9185|17.9185	0.88959|0.88959	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	211;211|.	E5RIM3;Q9Y263|.	.;PLAP_HUMAN|.	Y|L	211|187	ENSP00000380460:D211Y;ENSP00000429372:D211Y|.	ENSP00000380460:D211Y|.	D|X	-|-	1|2	0|2	PLAA|PLAA	26916493|26916493	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	7.063000|7.063000	0.76714|0.76714	2.226000|2.226000	0.72624|0.72624	0.467000|0.467000	0.42956|0.42956	GAT|TGA		0.333	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689	
LINGO2	158038	hgsc.bcm.edu	37	9	27948989	27948989	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr9:27948989G>T	ENST00000379992.2	-	6	2130	c.1681C>A	c.(1681-1683)Ctt>Att	p.L561I	LINGO2_ENST00000308675.3_Missense_Mutation_p.L561I	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	561						integral component of membrane (GO:0016021)		p.L561I(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		AAAAGGAGAAGAAAACAAAAT	0.448																																					p.L561I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1681A	9						.						90.0	84.0	86.0					9																	27948989		2203	4300	6503	27938989	SO:0001583	missense	158038	exon7			AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1681C>A	9.37:g.27948989G>T	ENSP00000369328:p.Leu561Ile	Somatic		Capture	SOLID	Phase_I	27938989	NM_152570	A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	G	1.163	-0.643160	0.03531	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.57595	0.39;0.39	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.36717	0.0977	N	0.20401	0.57	0.58432	D	0.999996	B	0.27971	0.196	B	0.27796	0.083	T	0.17930	-1.0353	9	.	.	.	.	12.8749	0.57984	0.115:0.0:0.885:0.0	.	561	Q7L985	LIGO2_HUMAN	I	561	ENSP00000369328:L561I;ENSP00000310126:L561I	.	L	-	1	0	LINGO2	27938989	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.205000	0.58466	2.769000	0.95229	0.655000	0.94253	CTT		0.448	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570	
CCL27	10850	hgsc.bcm.edu	37	9	34661994	34661994	+	Missense_Mutation	SNP	G	G	A	rs11575584	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr9:34661994G>A	ENST00000259631.4	-	3	344	c.286C>T	c.(286-288)Ctc>Ttc	p.L96F	CCL27_ENST00000557161.1_5'UTR|RP11-195F19.30_ENST00000564224.1_RNA	NM_006664.2	NP_006655.1	Q9Y4X3	CCL27_HUMAN	chemokine (C-C motif) ligand 27	96			L -> F (in dbSNP:rs11575584).		cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			kidney(1)|large_intestine(3)|ovary(1)	5	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GTCCCATGGAGCTTTCTCTCT	0.502													G|||	207	0.0413339	0.003	0.0418	5008	,	,		19142	0.0159		0.0755	False		,,,				2504	0.0838				p.L96F												.	.	0			c.C286T	9						.	G	PHE/LEU	75,4331	68.1+/-105.8	1,73,2129	108.0	116.0	113.0		286	-4.7	0.0	9	dbSNP_120	113	526,8074	147.6+/-202.9	17,492,3791	yes	missense	CCL27	NM_006664.2	22	18,565,5920	AA,AG,GG		6.1163,1.7022,4.6209	probably-damaging	96/113	34661994	601,12405	2203	4300	6503	34651994	SO:0001583	missense	10850	exon3			AJ243542	CCDS6569.1	9p13	2014-05-16	2002-08-22	2002-08-23	ENSG00000213927	ENSG00000213927		"""Chemokine ligands"", ""Endogenous ligands"""	10626	protein-coding gene	gene with protein product	"""CC chemokine ILC"", ""IL-11 Ralpha-locus chemokine"", ""cutaneous T-cell attracting chemokine"""	604833	"""small inducible cytokine subfamily A (Cys-Cys), member 27"""	SCYA27		10556532, 10588729	Standard	NM_006664		Approved	ALP, ILC, CTACK, skinkine, ESkine, PESKY, CTAK	uc003zvm.1	Q9Y4X3	OTTHUMG00000019834	ENST00000259631.4:c.286C>T	9.37:g.34661994G>A	ENSP00000259631:p.Leu96Phe	Somatic		Capture	SOLID	Phase_I	34651994	NM_006664		Missense_Mutation	SNP	ENST00000259631.4	37	CCDS6569.1	84	0.038461538461538464	2	0.0040650406504065045	15	0.04143646408839779	8	0.013986013986013986	59	0.07783641160949868	G	8.367	0.834384	0.16820	0.017022	0.061163	ENSG00000213927	ENST00000259631	T	0.32023	1.47	4.99	-4.65	0.03339	Chemokine interleukin-8-like domain (1);	1.572910	0.03568	N	0.228121	T	0.00906	0.0030	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.17592	-1.0364	10	0.48119	T	0.1	-0.009	2.4773	0.04579	0.4822:0.1255:0.2646:0.1277	rs11575584;rs52820755;rs58368429;rs11575584	96	Q9Y4X3	CCL27_HUMAN	F	96	ENSP00000259631:L96F	ENSP00000259631:L96F	L	-	1	0	CCL27	34651994	0.000000	0.05858	0.000000	0.03702	0.465000	0.32709	-0.881000	0.04179	-0.691000	0.05135	0.655000	0.94253	CTC		0.502	CCL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052228.1	NM_006664	
C9orf131	138724	hgsc.bcm.edu	37	9	35045031	35045031	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr9:35045031C>T	ENST00000312292.5	+	2	2452	c.2405C>T	c.(2404-2406)gCc>gTc	p.A802V	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Missense_Mutation_p.A729V|C9orf131_ENST00000421362.2_Missense_Mutation_p.A754V	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	802								p.A802V(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GCCTCCAGAGCCCCTGGCCCA	0.567																																					p.A729V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2186T	9						.						151.0	161.0	157.0					9																	35045031		2203	4300	6503	35035031	SO:0001583	missense	138724	exon2			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2405C>T	9.37:g.35045031C>T	ENSP00000308279:p.Ala802Val	Somatic		Capture	SOLID	Phase_I	35035031	NM_001040411	A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985235	0.35036	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.15256	2.44;2.44;2.44	3.99	3.08	0.35506	.	0.803881	0.10532	N	0.663714	T	0.13586	0.0329	L	0.44542	1.39	0.09310	N	1	P;B;B;B	0.41910	0.764;0.358;0.358;0.358	B;B;B;B	0.33960	0.173;0.107;0.107;0.107	T	0.12915	-1.0529	10	0.44086	T	0.13	-0.0058	9.2272	0.37414	0.2149:0.7851:0.0:0.0	.	277;802;729;754	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	V	754;729;802;277	ENSP00000393683:A754V;ENSP00000346472:A729V;ENSP00000308279:A802V	ENSP00000308279:A802V	A	+	2	0	C9orf131	35035031	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	0.292000	0.19011	0.996000	0.38943	0.563000	0.77884	GCC		0.567	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299	
UNC13B	10497	hgsc.bcm.edu	37	9	35310547	35310547	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr9:35310547A>G	ENST00000378495.3	+	9	1067	c.845A>G	c.(844-846)gAa>gGa	p.E282G	UNC13B_ENST00000378496.4_Missense_Mutation_p.E282G|UNC13B_ENST00000396787.1_Missense_Mutation_p.E294G	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	282					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.E282G(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CAGTATCACGAACAAGATGAC	0.502																																					p.E282G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A845G	9						.						132.0	129.0	130.0					9																	35310547		2203	4300	6503	35300547	SO:0001583	missense	10497	exon9			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.845A>G	9.37:g.35310547A>G	ENSP00000367756:p.Glu282Gly	Somatic		Capture	SOLID	Phase_I	35300547	NM_006377	Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	A	14.87	2.664061	0.47572	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496	D;D;D	0.85013	-1.8;-1.73;-1.93	5.81	5.81	0.92471	.	2.226600	0.03394	U	0.202325	D	0.86957	0.6058	L	0.34521	1.04	0.36763	D	0.883392	D;B;B	0.56521	0.976;0.206;0.131	P;B;B	0.49922	0.626;0.124;0.058	T	0.75775	-0.3199	10	0.62326	D	0.03	-21.5374	15.3511	0.74389	1.0:0.0:0.0:0.0	.	282;282;282	Q2NKJ5;F8W8M9;O14795	.;.;UN13B_HUMAN	G	294;282;282	ENSP00000380006:E294G;ENSP00000367756:E282G;ENSP00000367757:E282G	ENSP00000367756:E282G	E	+	2	0	UNC13B	35300547	1.000000	0.71417	0.986000	0.45419	0.948000	0.59901	6.186000	0.72026	2.217000	0.71921	0.533000	0.62120	GAA		0.502	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377	
RECK	8434	hgsc.bcm.edu	37	9	36083431	36083431	+	Missense_Mutation	SNP	G	G	A	rs375748786		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr9:36083431G>A	ENST00000377966.3	+	8	1075	c.509G>A	c.(508-510)cGa>cAa	p.R170Q	RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	170	5 X Knot repeats.				blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R170Q(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GCCATTTTTCGAACAGACTCT	0.403																																					p.R170Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G509A	9						.	G	GLN/ARG	0,4406		0,0,2203	96.0	90.0	92.0		509	5.6	1.0	9		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	RECK	NM_021111.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	170/972	36083431	1,13005	2203	4300	6503	36073431	SO:0001583	missense	8434	exon8			E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.509G>A	9.37:g.36083431G>A	ENSP00000367202:p.Arg170Gln	Somatic		Capture	SOLID	Phase_I	36073431	NM_021111	B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246056	0.80024	0.0	1.16E-4	ENSG00000122707	ENST00000377966	T	0.44881	0.91	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	N	0.14661	0.345	0.50813	D	0.999891	P;P;P;D	0.71674	0.703;0.703;0.703;0.998	B;B;B;D	0.75484	0.048;0.048;0.048;0.986	T	0.48843	-0.8999	10	0.38643	T	0.18	-9.7638	17.1032	0.86655	0.0:0.0:1.0:0.0	.	170;170;170;170	B2RCE6;A8K9D8;O95980;Q6P9E2	.;.;RECK_HUMAN;.	Q	170	ENSP00000367202:R170Q	ENSP00000367202:R170Q	R	+	2	0	RECK	36073431	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.593000	0.98250	2.628000	0.89032	0.650000	0.86243	CGA		0.403	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1		
MELK	9833	hgsc.bcm.edu	37	9	36643024	36643024	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr9:36643024G>T	ENST00000298048.2	+	11	1049	c.865G>T	c.(865-867)Gaa>Taa	p.E289*	MELK_ENST00000536329.1_Nonsense_Mutation_p.E218*|MELK_ENST00000545008.1_Nonsense_Mutation_p.E218*|MELK_ENST00000543751.1_Nonsense_Mutation_p.E257*|MELK_ENST00000536860.1_Nonsense_Mutation_p.E241*|MELK_ENST00000541717.1_Nonsense_Mutation_p.E289*|MELK_ENST00000536987.1_Nonsense_Mutation_p.E158*|MELK_ENST00000538311.1_Nonsense_Mutation_p.E95*	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	289	UBA-like.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)	p.E289*(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			TTGCGTAACAGAACTTTCTGT	0.338																																					p.E289X	Ovarian(82;980 1317 7225 14391 18624)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G865T	9						.						92.0	86.0	88.0					9																	36643024		2203	4300	6503	36633024	SO:0001587	stop_gained	9833	exon11			D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.865G>T	9.37:g.36643024G>T	ENSP00000298048:p.Glu289*	Somatic		Capture	SOLID	Phase_I	36633024	NM_014791	A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Nonsense_Mutation	SNP	ENST00000298048.2	37	CCDS6606.1	.	.	.	.	.	.	.	.	.	.	G	37	6.597968	0.97692	.	.	ENSG00000165304	ENST00000298048;ENST00000538311;ENST00000536987;ENST00000545008;ENST00000536860;ENST00000536329;ENST00000541717;ENST00000543751	.	.	.	5.46	5.46	0.80206	.	0.045972	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-17.8187	18.0769	0.89430	0.0:0.0:1.0:0.0	.	.	.	.	X	289;95;158;218;241;218;289;257	.	ENSP00000298048:E289X	E	+	1	0	MELK	36633024	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.262000	0.72514	2.568000	0.86640	0.650000	0.86243	GAA		0.338	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	NM_014791	
IARS	3376	hgsc.bcm.edu	37	9	95022486	95022486	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr9:95022486C>A	ENST00000375643.3	-	18	2084	c.1818G>T	c.(1816-1818)aaG>aaT	p.K606N	IARS_ENST00000447699.2_Missense_Mutation_p.K496N|IARS_ENST00000443024.2_Missense_Mutation_p.K606N|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	606					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.K606N(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CTGGATAATTCTTTTTCCGTT	0.368																																					p.K606N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1818T	9						.						238.0	179.0	199.0					9																	95022486		2203	4300	6503	94062307	SO:0001583	missense	3376	exon18			AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.1818G>T	9.37:g.95022486C>A	ENSP00000364794:p.Lys606Asn	Somatic		Capture	SOLID	Phase_I	94062307	NM_002161	A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718944	0.89205	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660	T;T;T	0.21191	2.02;2.02;2.02	5.7	4.8	0.61643	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.48390	0.1497	M	0.83692	2.655	0.80722	D	1	D;D	0.55172	0.97;0.965	D;D	0.70016	0.967;0.919	T	0.50759	-0.8790	10	0.66056	D	0.02	-20.9141	13.7698	0.63018	0.0:0.9259:0.0:0.0741	.	606;451	P41252;Q6P0M4	SYIC_HUMAN;.	N	606;606;496;606	ENSP00000364794:K606N;ENSP00000406448:K606N;ENSP00000415020:K496N	ENSP00000364794:K606N	K	-	3	2	IARS	94062307	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.940000	0.56599	2.711000	0.92665	0.561000	0.74099	AAG		0.368	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161	
ZNF782	158431	hgsc.bcm.edu	37	9	99580392	99580392	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr9:99580392C>T	ENST00000481138.1	-	6	2574	c.1913G>A	c.(1912-1914)cGa>cAa	p.R638Q	ZNF782_ENST00000535338.1_Missense_Mutation_p.R506Q|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	638					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.R638Q(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GGTGTGAGTTCGCTGATGTTT	0.453																																					p.R638Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1913A	9						.						121.0	112.0	115.0					9																	99580392		2203	4300	6503	98620213	SO:0001583	missense	158431	exon6			AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.1913G>A	9.37:g.99580392C>T	ENSP00000419397:p.Arg638Gln	Somatic		Capture	SOLID	Phase_I	98620213	NM_001001662	B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	37	CCDS35075.1	.	.	.	.	.	.	.	.	.	.	c	19.67	3.871409	0.72065	.	.	ENSG00000196597	ENST00000481138;ENST00000535338	T;T	0.02369	4.32;4.32	3.06	3.06	0.35304	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33553	N	0.004790	T	0.08670	0.0215	L	0.39147	1.195	0.23594	N	0.997332	D	0.89917	1.0	D	0.77004	0.989	T	0.02713	-1.1120	10	0.87932	D	0	.	12.3578	0.55186	0.0:1.0:0.0:0.0	.	638	Q6ZMW2	ZN782_HUMAN	Q	638;506	ENSP00000419397:R638Q;ENSP00000440624:R506Q	ENSP00000419397:R638Q	R	-	2	0	ZNF782	98620213	0.000000	0.05858	1.000000	0.80357	0.973000	0.67179	-0.058000	0.11750	2.009000	0.58944	0.655000	0.94253	CGA		0.453	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662	
ZNF782	158431	hgsc.bcm.edu	37	9	99580815	99580815	+	Missense_Mutation	SNP	C	C	T	rs367983236		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr9:99580815C>T	ENST00000481138.1	-	6	2151	c.1490G>A	c.(1489-1491)cGa>cAa	p.R497Q	ZNF782_ENST00000535338.1_Missense_Mutation_p.R365Q|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	497					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.R497Q(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GTGAGTTCTTCGGTGATTCCT	0.438																																					p.R497Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1490A	9						.	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	161.0	159.0	160.0		1490	-4.2	0.0	9		160	1,8599		0,1,4299	no	missense	ZNF782	NM_001001662.1	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	497/700	99580815	2,13004	2203	4300	6503	98620636	SO:0001583	missense	158431	exon6			AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.1490G>A	9.37:g.99580815C>T	ENSP00000419397:p.Arg497Gln	Somatic		Capture	SOLID	Phase_I	98620636	NM_001001662	B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	37	CCDS35075.1	.	.	.	.	.	.	.	.	.	.	c	0.027	-1.360184	0.01245	2.27E-4	1.16E-4	ENSG00000196597	ENST00000481138;ENST00000535338	T;T	0.17691	2.26;2.26	3.1	-4.21	0.03812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.239730	0.06249	N	0.691772	T	0.06554	0.0168	N	0.04297	-0.235	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.44772	-0.9306	10	0.02654	T	1	.	11.9284	0.52833	0.0:0.1873:0.0:0.8127	.	497	Q6ZMW2	ZN782_HUMAN	Q	497;365	ENSP00000419397:R497Q;ENSP00000440624:R365Q	ENSP00000419397:R497Q	R	-	2	0	ZNF782	98620636	0.000000	0.05858	0.007000	0.13788	0.897000	0.52465	-0.390000	0.07332	-1.137000	0.02888	-0.140000	0.14226	CGA		0.438	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662	
MAN1B1	11253	hgsc.bcm.edu	37	9	140001201	140001201	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr9:140001201C>T	ENST00000371589.4	+	10	1579	c.1506C>T	c.(1504-1506)tcC>tcT	p.S502S	MAN1B1_ENST00000474902.1_Silent_p.S205S|MAN1B1_ENST00000540391.1_3'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	502					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.S502S(1)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		TGCGGCACTCCGAGCCCAGTA	0.627																																					p.S502S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1506T	9						.						90.0	75.0	80.0					9																	140001201		2203	4300	6503	139121022	SO:0001819	synonymous_variant	11253	exon10			AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"""endoplasmic reticulum alpha-mannosidase 1"", ""alpha 1,2-mannosidase"", ""endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1"", ""ER alpha 1,2-mannosidase"", ""Man9GlcNAc2-specific processing alpha-mannosidase"""	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.1506C>T	9.37:g.140001201C>T		Somatic		Capture	SOLID	Phase_I	139121022	NM_016219	Q5VSG3|Q9BRS9|Q9Y5K7	Silent	SNP	ENST00000371589.4	37	CCDS7029.1	.	.	.	.	.	.	.	.	.	.	C	5.056	0.195965	0.09599	.	.	ENSG00000177239	ENST00000535144	.	.	.	4.95	-9.89	0.00464	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.0759	0.03624	0.427:0.1948:0.2642:0.1139	.	.	.	.	X	476	.	.	R	+	1	2	MAN1B1	139121022	0.000000	0.05858	0.005000	0.12908	0.002000	0.02628	-5.252000	0.00137	-2.904000	0.00310	-3.020000	0.00074	CGA		0.627	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	NM_016219	
NALCN	259232	hgsc.bcm.edu	37	13	101736068	101736068	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr13:101736068G>A	ENST00000251127.6	-	31	3658	c.3577C>T	c.(3577-3579)Cgc>Tgc	p.R1193C		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1193					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.R1193C(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTACCCGGGCGAGGCGGAAGA	0.483																																					p.R1193C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3577T	13						.						61.0	63.0	62.0					13																	101736068		2203	4300	6503	100534069	SO:0001583	missense	259232	exon31			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3577C>T	13.37:g.101736068G>A	ENSP00000251127:p.Arg1193Cys	Somatic		Capture	SOLID	Phase_I	100534069	NM_052867	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683926	0.88639	.	.	ENSG00000102452	ENST00000251127	D	0.98060	-4.69	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.98096	0.9372	M	0.73962	2.25	0.80722	D	1	D	0.71674	0.998	P	0.56042	0.79	D	0.98988	1.0807	10	0.87932	D	0	.	16.9487	0.86237	0.0:0.0:1.0:0.0	.	1193	Q8IZF0	NALCN_HUMAN	C	1193	ENSP00000251127:R1193C	ENSP00000251127:R1193C	R	-	1	0	NALCN	100534069	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.386000	0.79775	2.441000	0.82636	0.650000	0.86243	CGC		0.483	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
NALCN	259232	hgsc.bcm.edu	37	13	101760104	101760104	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr13:101760104C>T	ENST00000251127.6	-	21	2482	c.2401G>A	c.(2401-2403)Gaa>Aaa	p.E801K		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	801					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.E801K(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCACTGTCTTCTCTTTGTGCA	0.383																																					p.E801K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2401A	13						.						196.0	169.0	178.0					13																	101760104		2203	4300	6503	100558105	SO:0001583	missense	259232	exon21			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2401G>A	13.37:g.101760104C>T	ENSP00000251127:p.Glu801Lys	Somatic		Capture	SOLID	Phase_I	100558105	NM_052867	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043436	0.36085	.	.	ENSG00000102452	ENST00000251127	D	0.97553	-4.43	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.91362	0.7275	N	0.08118	0	0.80722	D	1	B	0.22276	0.067	B	0.14578	0.011	D	0.88311	0.2956	10	0.06757	T	0.87	.	19.5008	0.95093	0.0:1.0:0.0:0.0	.	801	Q8IZF0	NALCN_HUMAN	K	801	ENSP00000251127:E801K	ENSP00000251127:E801K	E	-	1	0	NALCN	100558105	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.743000	0.68655	2.594000	0.87642	0.650000	0.86243	GAA		0.383	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
MYO16	23026	hgsc.bcm.edu	37	13	109753197	109753197	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr13:109753197C>T	ENST00000357550.2	+	27	3375	c.3334C>T	c.(3334-3336)Cga>Tga	p.R1112*	MYO16_ENST00000356711.2_Nonsense_Mutation_p.R1112*|MYO16-AS2_ENST00000412809.1_RNA|MYO16_ENST00000457511.2_Nonsense_Mutation_p.R624*	NM_001198950.1	NP_001185879.1			myosin XVI									p.R1112*(3)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CGAGCGATGTCGACTTGTTCT	0.438																																					p.R1112X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.C3334T	13						.						85.0	75.0	78.0					13																	109753197		2203	4300	6503	108551198	SO:0001587	stop_gained	23026	exon28				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3334C>T	13.37:g.109753197C>T	ENSP00000350160:p.Arg1112*	Somatic		Capture	SOLID	Phase_I	108551198	NM_015011		Nonsense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	38	7.189685	0.98125	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000457511	.	.	.	5.45	5.45	0.79879	.	0.226097	0.21868	U	0.067926	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0272	0.80551	0.0:1.0:0.0:0.0	.	.	.	.	X	1112;1112;624	.	.	R	+	1	2	MYO16	108551198	0.800000	0.28916	0.865000	0.33974	0.140000	0.21249	2.984000	0.49353	2.550000	0.86006	0.655000	0.94253	CGA		0.438	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011	
ZMYM5	9205	hgsc.bcm.edu	37	13	20426028	20426028	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr13:20426028A>G	ENST00000337963.4	-	3	557	c.293T>C	c.(292-294)gTa>gCa	p.V98A	ZMYM5_ENST00000382905.4_Missense_Mutation_p.V98A|ZMYM5_ENST00000382907.4_Missense_Mutation_p.V98A	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	98						nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.V98A(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)		AGGAGGAATTACAGAATAATT	0.348																																					p.V98A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T293C	13						.						60.0	63.0	62.0					13																	20426028		2201	4300	6501	19324028	SO:0001583	missense	9205	exon3			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.293T>C	13.37:g.20426028A>G	ENSP00000337034:p.Val98Ala	Somatic		Capture	SOLID	Phase_I	19324028	NM_001142684	B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37		.	.	.	.	.	.	.	.	.	.	A	0.087	-1.174248	0.01646	.	.	ENSG00000132950	ENST00000337963;ENST00000502168;ENST00000382907;ENST00000382905	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	4.04	1.53	0.23141	.	.	.	.	.	T	0.23171	0.0560	L	0.44542	1.39	0.09310	N	1	B;B;B	0.27732	0.131;0.187;0.187	B;B;B	0.28011	0.027;0.085;0.085	T	0.24693	-1.0153	9	0.49607	T	0.09	0.3034	4.285	0.10850	0.3696:0.0:0.1044:0.526	.	98;98;98	Q9UJ78;Q9UJ78-2;Q9UJ78-1	ZMYM5_HUMAN;.;.	A	98;88;98;98	ENSP00000337034:V98A;ENSP00000445779:V88A;ENSP00000372364:V98A;ENSP00000372361:V98A	ENSP00000337034:V98A	V	-	2	0	ZMYM5	19324028	0.972000	0.33761	0.005000	0.12908	0.032000	0.12392	2.318000	0.43779	0.337000	0.23665	0.459000	0.35465	GTA		0.348	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242	
IFT88	8100	hgsc.bcm.edu	37	13	21215501	21215501	+	Missense_Mutation	SNP	G	G	A	rs566601705		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr13:21215501G>A	ENST00000319980.6	+	20	2000	c.1673G>A	c.(1672-1674)cGa>cAa	p.R558Q	IFT88_ENST00000351808.5_Missense_Mutation_p.R549Q|IFT88_ENST00000382778.4_Missense_Mutation_p.R558Q|IFT88_ENST00000537103.1_Missense_Mutation_p.R530Q	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	558					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)		p.R558Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		GCAATCCTACGAAACAGTGCC	0.343																																					p.R549Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1646A	13						.						67.0	64.0	65.0					13																	21215501		2203	4300	6503	20113501	SO:0001583	missense	8100	exon18			AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.1673G>A	13.37:g.21215501G>A	ENSP00000323580:p.Arg558Gln	Somatic		Capture	SOLID	Phase_I	20113501	NM_006531	A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	ENST00000319980.6	37	CCDS31944.1	.	.	.	.	.	.	.	.	.	.	G	32	5.155961	0.94686	.	.	ENSG00000032742	ENST00000382778;ENST00000389374;ENST00000351808;ENST00000319980;ENST00000537103	T;T;T;T	0.76839	-1.05;0.66;0.66;0.66	5.65	5.65	0.86999	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.056431	0.64402	D	0.000001	D	0.85948	0.5816	M	0.70275	2.135	0.50313	D	0.999863	P;P;D	0.76494	0.872;0.934;0.999	B;B;P	0.62560	0.205;0.356;0.904	D	0.84953	0.0872	10	0.42905	T	0.14	-18.0026	17.0138	0.86413	0.0:0.127:0.873:0.0	.	530;356;558	F5H6C2;Q6MZX0;Q13099	.;.;IFT88_HUMAN	Q	558;421;549;558;530	ENSP00000372228:R558Q;ENSP00000261632:R549Q;ENSP00000323580:R558Q;ENSP00000437719:R530Q	ENSP00000323580:R558Q	R	+	2	0	IFT88	20113501	1.000000	0.71417	0.583000	0.28640	0.935000	0.57460	6.100000	0.71473	2.826000	0.97356	0.491000	0.48974	CGA		0.343	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531	
LATS2	26524	hgsc.bcm.edu	37	13	21553895	21553895	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr13:21553895G>T	ENST00000382592.4	-	7	3112	c.2707C>A	c.(2707-2709)Ctc>Atc	p.L903I	LATS2_ENST00000542899.1_Missense_Mutation_p.L903I	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2									p.L903I(1)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		ATCTCGAAGAGAATCACTCCA	0.512																																					p.L903I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2707A	13						.						94.0	76.0	82.0					13																	21553895		2203	4300	6503	20451895	SO:0001583	missense	26524	exon7			AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.2707C>A	13.37:g.21553895G>T	ENSP00000372035:p.Leu903Ile	Somatic		Capture	SOLID	Phase_I	20451895	NM_014572		Missense_Mutation	SNP	ENST00000382592.4	37	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723112	0.89298	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.70631	-0.5;-0.5	5.52	5.52	0.82312	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	0.000008	T	0.81361	0.4806	L	0.48362	1.52	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.82141	-0.0604	10	0.87932	D	0	.	19.8611	0.96785	0.0:0.0:1.0:0.0	.	903	Q9NRM7	LATS2_HUMAN	I	903	ENSP00000372035:L903I;ENSP00000441817:L903I	ENSP00000372035:L903I	L	-	1	0	LATS2	20451895	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.750000	0.85110	2.767000	0.95098	0.555000	0.69702	CTC		0.512	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1		
SACS	26278	hgsc.bcm.edu	37	13	23912173	23912173	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr13:23912173C>T	ENST00000382292.3	-	9	6115	c.5842G>A	c.(5842-5844)Gat>Aat	p.D1948N	SACS_ENST00000402364.1_Missense_Mutation_p.D1198N|SACS_ENST00000382298.3_Missense_Mutation_p.D1948N			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1948					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.D1801N(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAATCAGGATCGGGCCATACT	0.398																																					p.D1948N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5842A	13						.						91.0	86.0	88.0					13																	23912173		2203	4299	6502	22810173	SO:0001583	missense	26278	exon10			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5842G>A	13.37:g.23912173C>T	ENSP00000371729:p.Asp1948Asn	Somatic		Capture	SOLID	Phase_I	22810173	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	13.40	2.224415	0.39300	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88586	-2.08;-2.4;-2.08	5.75	4.9	0.64082	.	0.052018	0.85682	D	0.000000	T	0.81531	0.4842	L	0.36672	1.1	0.43863	D	0.996466	P	0.35628	0.513	B	0.23716	0.048	T	0.78773	-0.2073	10	0.19147	T	0.46	.	16.1301	0.81422	0.1348:0.8652:0.0:0.0	.	1948	Q9NZJ4	SACS_HUMAN	N	1948;1198;1948	ENSP00000371729:D1948N;ENSP00000385844:D1198N;ENSP00000371735:D1948N	ENSP00000371729:D1948N	D	-	1	0	SACS	22810173	1.000000	0.71417	0.998000	0.56505	0.028000	0.11728	5.773000	0.68898	1.412000	0.46977	-0.282000	0.10007	GAT		0.398	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
MIPEP	4285	hgsc.bcm.edu	37	13	24444157	24444157	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr13:24444157C>A	ENST00000382172.3	-	6	879	c.781G>T	c.(781-783)Gac>Tac	p.D261Y		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	261					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.D261Y(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		CATACCAAGTCATCTGGTGAT	0.368																																					p.D261Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G781T	13						.						149.0	127.0	134.0					13																	24444157		2203	4300	6503	23342157	SO:0001583	missense	4285	exon6				CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.781G>T	13.37:g.24444157C>A	ENSP00000371607:p.Asp261Tyr	Somatic		Capture	SOLID	Phase_I	23342157	NM_005932	Q5JV15|Q5T9Q9|Q96G65	Missense_Mutation	SNP	ENST00000382172.3	37	CCDS9303.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089363	0.55968	.	.	ENSG00000027001	ENST00000382172	T	0.07800	3.16	5.79	5.79	0.91817	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.28366	0.0701	M	0.72894	2.215	0.52501	D	0.999954	P	0.48834	0.916	P	0.59761	0.863	T	0.00071	-1.2132	10	0.56958	D	0.05	.	20.0268	0.97525	0.0:1.0:0.0:0.0	.	261	Q99797	MIPEP_HUMAN	Y	261	ENSP00000371607:D261Y	ENSP00000371607:D261Y	D	-	1	0	MIPEP	23342157	1.000000	0.71417	0.988000	0.46212	0.157000	0.22087	7.229000	0.78088	2.725000	0.93324	0.555000	0.69702	GAC		0.368	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044169.1		
TRPC4	7223	hgsc.bcm.edu	37	13	38248374	38248374	+	Silent	SNP	T	T	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr13:38248374T>C	ENST00000379705.3	-	5	2222	c.1365A>G	c.(1363-1365)gcA>gcG	p.A455A	TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000426868.2_Silent_p.A455A|TRPC4_ENST00000379681.3_Silent_p.A455A|TRPC4_ENST00000379679.1_Silent_p.A282A|TRPC4_ENST00000379673.2_Silent_p.A455A|TRPC4_ENST00000355779.2_Silent_p.A455A|TRPC4_ENST00000447043.1_Silent_p.A455A|TRPC4_ENST00000338947.5_Silent_p.A282A|TRPC4_ENST00000358477.2_Silent_p.A455A			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	455					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.A455A(1)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CCTTTACAAATGCAACAATTT	0.303																																					p.A455A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1365G	13						.						52.0	50.0	51.0					13																	38248374		2203	4300	6503	37146374	SO:0001819	synonymous_variant	7223	exon5			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1365A>G	13.37:g.38248374T>C		Somatic		Capture	SOLID	Phase_I	37146374	NM_001135956	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	ENST00000379705.3	37	CCDS9365.1																																																																																				0.303	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306	
TRPC4	7223	hgsc.bcm.edu	37	13	38357112	38357112	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr13:38357112T>G	ENST00000379705.3	-	2	1216	c.359A>C	c.(358-360)aAa>aCa	p.K120T	TRPC4_ENST00000426868.2_Missense_Mutation_p.K120T|TRPC4_ENST00000379681.3_Missense_Mutation_p.K120T|TRPC4_ENST00000379679.1_Missense_Mutation_p.K120T|TRPC4_ENST00000379673.2_Missense_Mutation_p.K120T|TRPC4_ENST00000355779.2_Missense_Mutation_p.K120T|TRPC4_ENST00000447043.1_Missense_Mutation_p.K120T|TRPC4_ENST00000338947.5_Missense_Mutation_p.K120T|TRPC4_ENST00000358477.2_Missense_Mutation_p.K120T			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	120	Multimerization domain. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.K120T(1)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCCACTAGGTTTTTTGTGGTT	0.318																																					p.K120T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A359C	13						.						51.0	53.0	53.0					13																	38357112		2203	4300	6503	37255112	SO:0001583	missense	7223	exon2			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.359A>C	13.37:g.38357112T>G	ENSP00000369027:p.Lys120Thr	Somatic		Capture	SOLID	Phase_I	37255112	NM_001135956	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	T	18.34	3.603358	0.66445	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.62639	0.68;0.68;0.01;0.01;0.68;0.68;0.68;0.68;0.68	5.91	5.91	0.95273	Ankyrin repeat-containing domain (2);	0.089994	0.85682	D	0.000000	T	0.66086	0.2754	N	0.16201	0.385	0.58432	D	0.999999	D;P;D;D;D;D	0.76494	0.987;0.735;0.999;0.999;0.977;0.996	P;B;D;D;P;D	0.80764	0.875;0.287;0.994;0.994;0.875;0.978	T	0.70586	-0.4831	10	0.51188	T	0.08	-29.6952	16.3469	0.83138	0.0:0.0:0.0:1.0	.	120;120;120;120;120;120	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	T	120	ENSP00000369027:K120T;ENSP00000369003:K120T;ENSP00000342580:K120T;ENSP00000369001:K120T;ENSP00000410133:K120T;ENSP00000348025:K120T;ENSP00000351264:K120T;ENSP00000368995:K120T;ENSP00000414316:K120T	ENSP00000342580:K120T	K	-	2	0	TRPC4	37255112	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	6.280000	0.72626	2.263000	0.75096	0.528000	0.53228	AAA		0.318	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306	
KBTBD7	84078	hgsc.bcm.edu	37	13	41766412	41766412	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr13:41766412G>T	ENST00000379483.3	-	1	2290	c.1982C>A	c.(1981-1983)tCt>tAt	p.S661Y		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	661								p.S661Y(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		ATCTGAAAAAGAACTTGAACT	0.418																																					p.S661Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1982A	13						.						135.0	130.0	132.0					13																	41766412		2203	4300	6503	40664412	SO:0001583	missense	84078	exon1			AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1982C>A	13.37:g.41766412G>T	ENSP00000368797:p.Ser661Tyr	Somatic		Capture	SOLID	Phase_I	40664412	NM_032138	B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.636017	0.47049	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.75589	-0.95	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000004	D	0.83257	0.5215	L	0.50333	1.59	0.58432	D	0.999996	D	0.65815	0.995	D	0.75484	0.986	D	0.84316	0.0513	10	0.72032	D	0.01	.	17.0554	0.86532	0.0:0.0:1.0:0.0	.	661	Q8WVZ9	KBTB7_HUMAN	Y	661;563	ENSP00000368797:S661Y	ENSP00000368797:S661Y	S	-	2	0	KBTBD7	40664412	1.000000	0.71417	1.000000	0.80357	0.383000	0.30230	7.983000	0.88140	2.613000	0.88420	0.557000	0.71058	TCT		0.418	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138	
ZC3H13	23091	hgsc.bcm.edu	37	13	46549950	46549950	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr13:46549950G>A	ENST00000242848.4	-	12	2284	c.1936C>T	c.(1936-1938)Cga>Tga	p.R646*	ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R646*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	646	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R646*(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)		CCCTGATGTCGAATTGGTGAG	0.403																																					p.R646X	Esophageal Squamous(187;747 2077 11056 31291 44172)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1936T	13						.						175.0	127.0	143.0					13																	46549950		2203	4300	6503	45447951	SO:0001587	stop_gained	23091	exon12			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1936C>T	13.37:g.46549950G>A	ENSP00000242848:p.Arg646*	Somatic		Capture	SOLID	Phase_I	45447951	NM_015070	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Nonsense_Mutation	SNP	ENST00000242848.4	37		.	.	.	.	.	.	.	.	.	.	G	41	8.905630	0.98998	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	.	.	.	5.27	5.27	0.74061	.	0.000000	0.49916	D	0.000131	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1291	0.65240	0.0:0.0:0.8498:0.1502	.	.	.	.	X	646;646;462	.	ENSP00000242848:R646X	R	-	1	2	ZC3H13	45447951	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.093000	0.57714	2.607000	0.88179	0.557000	0.71058	CGA		0.403	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070	
SUCLA2	8803	hgsc.bcm.edu	37	13	48547446	48547446	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr13:48547446C>A	ENST00000378654.3	-	5	672	c.616G>T	c.(616-618)Gaa>Taa	p.E206*	SUCLA2_ENST00000497202.1_5'UTR|SUCLA2_ENST00000534875.1_Nonsense_Mutation_p.E148*|SUCLA2_ENST00000544100.1_Nonsense_Mutation_p.E72*|SUCLA2_ENST00000543413.1_Nonsense_Mutation_p.E148*	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	206	ATP-grasp.				cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|succinyl-CoA pathway (GO:0006781)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)	p.E206*(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	TCAATAGGTTCTTTAATTATT	0.368																																					p.E206X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G616T	13						.						86.0	76.0	79.0					13																	48547446		2203	4300	6503	47445447	SO:0001587	stop_gained	8803	exon5			AF058953	CCDS9406.1	13q12.2-q13.3	2010-04-16			ENSG00000136143	ENSG00000136143	6.2.1.5		11448	protein-coding gene	gene with protein product		603921				9765291	Standard	NM_003850		Approved		uc001vbs.3	Q9P2R7	OTTHUMG00000016889	ENST00000378654.3:c.616G>T	13.37:g.48547446C>A	ENSP00000367923:p.Glu206*	Somatic		Capture	SOLID	Phase_I	47445447	NM_003850	B2RDE7|O95194|Q5T9Q4|Q5T9Q6|Q9NV21|Q9NVP7	Nonsense_Mutation	SNP	ENST00000378654.3	37	CCDS9406.1	.	.	.	.	.	.	.	.	.	.	c	25.6	4.652529	0.88056	.	.	ENSG00000136143	ENST00000378654;ENST00000378645;ENST00000378642;ENST00000331052;ENST00000544100;ENST00000534875;ENST00000543413;ENST00000541732;ENST00000434484;ENST00000433022	.	.	.	5.77	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-21.2691	15.7916	0.78369	0.0:0.8637:0.1363:0.0	.	.	.	.	X	206;184;136;58;72;148;148;34;136;58	.	ENSP00000367898:E58X	E	-	1	0	SUCLA2	47445447	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.673000	0.68109	1.400000	0.46741	0.655000	0.94253	GAA		0.368	SUCLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044852.1		
CDADC1	81602	hgsc.bcm.edu	37	13	49852553	49852553	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr13:49852553C>A	ENST00000251108.6	+	7	1231	c.1118C>A	c.(1117-1119)tCt>tAt	p.S373Y	CDADC1_ENST00000444959.1_Missense_Mutation_p.S175Y	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	373							hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)	p.S373Y(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|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;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		CCTGTTGGATCTGAGTATGCT	0.413																																					p.S373Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1118A	13						.						387.0	328.0	348.0					13																	49852553		2203	4300	6503	48750554	SO:0001583	missense	81602	exon7			AY027525	CCDS9415.1	13q14.11	2008-02-05			ENSG00000102543	ENSG00000102543			20299	protein-coding gene	gene with protein product							Standard	NM_001193478		Approved	NYD-SP15	uc001vcu.3	Q9BWV3	OTTHUMG00000016913	ENST00000251108.6:c.1118C>A	13.37:g.49852553C>A	ENSP00000251108:p.Ser373Tyr	Somatic		Capture	SOLID	Phase_I	48750554	NM_001193478	Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	Missense_Mutation	SNP	ENST00000251108.6	37	CCDS9415.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779332	0.90195	.	.	ENSG00000102543	ENST00000251108;ENST00000444959	T;T	0.42513	0.97;0.97	5.51	5.51	0.81932	Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.000000	0.85682	D	0.000000	T	0.60222	0.2252	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.60611	-0.7229	10	0.62326	D	0.03	-9.602	18.469	0.90766	0.0:1.0:0.0:0.0	.	373	Q9BWV3	CDAC1_HUMAN	Y	373;175	ENSP00000251108:S373Y;ENSP00000407226:S175Y	ENSP00000251108:S373Y	S	+	2	0	CDADC1	48750554	1.000000	0.71417	0.988000	0.46212	0.974000	0.67602	7.101000	0.76997	2.581000	0.87130	0.650000	0.86243	TCT		0.413	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044902.2	NM_030911	
RCBTB1	55213	hgsc.bcm.edu	37	13	50123622	50123622	+	Silent	SNP	G	G	C	rs3751384	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr13:50123622G>C	ENST00000378302.2	-	9	1277	c.1017C>G	c.(1015-1017)ccC>ccG	p.P339P	RCBTB1_ENST00000258646.3_Silent_p.P339P|RCBTB1_ENST00000546015.1_Silent_p.P339P	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	339					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)				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)		ACGAGACGGCGGGAGTGGCAA	0.597													G|||	2380	0.47524	0.2632	0.6441	5008	,	,		15536	0.5149		0.6441	False		,,,				2504	0.4274				p.P339P												.	.	0			c.C1017G	13						.	G		1401,3005	458.2+/-351.9	217,967,1019	67.0	53.0	58.0		1017	-10.1	0.1	13	dbSNP_107	58	5809,2791	675.5+/-403.2	1987,1835,478	no	coding-synonymous	RCBTB1	NM_018191.3		2204,2802,1497	CC,CG,GG		32.4535,31.7975,44.564		339/532	50123622	7210,5796	2203	4300	6503	49021623	SO:0001819	synonymous_variant	55213	exon9			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.1017C>G	13.37:g.50123622G>C		Somatic		Capture	SOLID	Phase_I	49021623	NM_018191	Q8IY29|Q969U9	Silent	SNP	ENST00000378302.2	37	CCDS9418.1																																																																																				0.597	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	NM_018191	
CCDC70	83446	hgsc.bcm.edu	37	13	52439891	52439891	+	Missense_Mutation	SNP	G	G	A	rs61730661	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr13:52439891G>A	ENST00000242819.4	+	2	673	c.377G>A	c.(376-378)cGc>cAc	p.R126H		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	126			R -> C (in dbSNP:rs17076052).			extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.R126H(1)		breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		AAAAAGTACCGCACTTTCTGG	0.468																																					p.R126H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G377A	13						.	G	HIS/ARG	5,4401	9.9+/-24.2	0,5,2198	113.0	127.0	122.0		377	-0.9	0.0	13	dbSNP_129	122	0,8600		0,0,4300	no	missense	CCDC70	NM_031290.2	29	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	probably-damaging	126/234	52439891	5,13001	2203	4300	6503	51337892	SO:0001583	missense	83446	exon2				CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.377G>A	13.37:g.52439891G>A	ENSP00000242819:p.Arg126His	Somatic		Capture	SOLID	Phase_I	51337892	NM_031290	Q8N7A8|Q9H097	Missense_Mutation	SNP	ENST00000242819.4	37	CCDS9431.1	.	.	.	.	.	.	.	.	.	.	G	5.578	0.291406	0.10567	0.001135	0.0	ENSG00000123171	ENST00000242819	T	0.22134	1.97	5.93	-0.939	0.10408	.	0.271361	0.25723	N	0.028737	T	0.20981	0.0505	M	0.65975	2.015	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.26189	-1.0110	10	0.62326	D	0.03	-18.1723	11.2544	0.49045	0.5645:0.0:0.4355:0.0	rs61730661	126	Q6NSX1	CCD70_HUMAN	H	126	ENSP00000242819:R126H	ENSP00000242819:R126H	R	+	2	0	CCDC70	51337892	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.578000	0.23773	-0.269000	0.09298	-0.768000	0.03414	CGC		0.468	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	NM_031290	
PCDH8	5100	hgsc.bcm.edu	37	13	53418988	53418988	+	Missense_Mutation	SNP	C	C	T	rs141509995		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr13:53418988C>T	ENST00000377942.3	-	3	3123	c.2920G>A	c.(2920-2922)Gca>Aca	p.A974T	PCDH8_ENST00000338862.4_Missense_Mutation_p.A877T	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	974					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.A974T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GATGGATGTGCGTTGGGCCCG	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20319	0.0		0.0	False		,,,				2504	0.0				p.A877T	GBM(36;25 841 9273 49207)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2629A	13						.	C	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	124.0	74.0	91.0		2920,2629	-3.7	0.0	13	dbSNP_134	91	0,8600		0,0,4300	no	missense,missense	PCDH8	NM_002590.3,NM_032949.2	58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	974/1071,877/974	53418988	1,13005	2203	4300	6503	52316989	SO:0001583	missense	5100	exon3			AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2920G>A	13.37:g.53418988C>T	ENSP00000367177:p.Ala974Thr	Somatic		Capture	SOLID	Phase_I	52316989	NM_032949	B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.779862	0.00634	2.27E-4	0.0	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.52295	0.72;0.67	5.95	-3.7	0.04437	.	0.738589	0.11392	N	0.568673	T	0.15955	0.0384	N	0.03608	-0.345	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.06405	0.002;0.001	T	0.18935	-1.0321	10	0.16896	T	0.51	.	2.2993	0.04158	0.1538:0.3272:0.1187:0.4002	.	877;974	O95206-2;O95206	.;PCDH8_HUMAN	T	974;877;500;817	ENSP00000367177:A974T;ENSP00000341350:A877T	ENSP00000341350:A877T	A	-	1	0	PCDH8	52316989	0.287000	0.24315	0.002000	0.10522	0.410000	0.31052	-0.364000	0.07583	-0.730000	0.04869	-1.119000	0.02030	GCA		0.597	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590	
OLFM4	10562	hgsc.bcm.edu	37	13	53616083	53616083	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr13:53616083G>T	ENST00000219022.2	+	3	474	c.396G>T	c.(394-396)aaG>aaT	p.K132N		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	132					cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)	p.K132N(2)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TGTATGAAAAGAAACTGTTAA	0.393																																					p.K132N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G396T	13						.						108.0	102.0	104.0					13																	53616083		2203	4300	6503	52514084	SO:0001583	missense	10562	exon3			AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.396G>T	13.37:g.53616083G>T	ENSP00000219022:p.Lys132Asn	Somatic		Capture	SOLID	Phase_I	52514084	NM_006418	O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	G	4.486	0.090020	0.08632	.	.	ENSG00000102837	ENST00000219022	D	0.90261	-2.64	5.71	3.04	0.35103	.	0.367428	0.30611	N	0.009258	D	0.84397	0.5463	L	0.48362	1.52	0.33722	D	0.617054	B	0.13145	0.007	B	0.14023	0.01	T	0.79371	-0.1831	10	0.25751	T	0.34	.	7.133	0.25512	0.2036:0.1297:0.6668:0.0	.	132	Q6UX06	OLFM4_HUMAN	N	132	ENSP00000219022:K132N	ENSP00000219022:K132N	K	+	3	2	OLFM4	52514084	0.986000	0.35501	0.965000	0.40720	0.032000	0.12392	1.684000	0.37649	0.771000	0.33359	-0.165000	0.13383	AAG		0.393	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418	
PCDH9	5101	hgsc.bcm.edu	37	13	67477663	67477663	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr13:67477663A>C	ENST00000377865.2	-	2	3245	c.3111T>G	c.(3109-3111)atT>atG	p.I1037M	PCDH9-AS2_ENST00000419371.2_RNA|PCDH9_ENST00000544246.1_Missense_Mutation_p.I1037M|PCDH9_ENST00000456367.1_Intron|PCDH9_ENST00000328454.5_Intron			Q9HC56	PCDH9_HUMAN	protocadherin 9	1037					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I1037M(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CATTCTCCTGAATGTGGAAAC	0.363																																					p.I1037M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3111G	13						.						118.0	112.0	114.0					13																	67477663		2203	4300	6503	66375664	SO:0001583	missense	5101	exon3			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3111T>G	13.37:g.67477663A>C	ENSP00000367096:p.Ile1037Met	Somatic		Capture	SOLID	Phase_I	66375664	NM_203487	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	A	11.79	1.744588	0.30865	.	.	ENSG00000184226	ENST00000544246;ENST00000377865	T;T	0.52295	0.67;0.67	4.97	2.5	0.30297	.	0.655604	0.13412	N	0.389804	T	0.28699	0.0711	N	0.14661	0.345	0.80722	D	1	B;B	0.19706	0.037;0.038	B;B	0.09377	0.002;0.004	T	0.03840	-1.0999	10	0.34782	T	0.22	.	9.2856	0.37755	0.6049:0.3951:0.0:0.0	.	1037;1037	B7ZM79;Q9HC56	.;PCDH9_HUMAN	M	1037	ENSP00000442186:I1037M;ENSP00000367096:I1037M	ENSP00000367096:I1037M	I	-	3	3	PCDH9	66375664	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.077000	0.30741	0.355000	0.24131	-0.331000	0.08364	ATT		0.363	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487	
PCDH9	5101	hgsc.bcm.edu	37	13	67802318	67802318	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr13:67802318A>C	ENST00000377865.2	-	1	389	c.255T>G	c.(253-255)atT>atG	p.I85M	PCDH9_ENST00000544246.1_Missense_Mutation_p.I85M|PCDH9_ENST00000456367.1_Missense_Mutation_p.I85M|PCDH9_ENST00000377861.3_Missense_Mutation_p.I85M|PCDH9_ENST00000328454.5_Missense_Mutation_p.I85M			Q9HC56	PCDH9_HUMAN	protocadherin 9	85	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I85M(1)|p.I85I(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AGGTTGTGAAAATTTCCCCAG	0.498																																					p.I85M												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.T255G	13						.						52.0	50.0	51.0					13																	67802318		2203	4300	6503	66700319	SO:0001583	missense	5101	exon2			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.255T>G	13.37:g.67802318A>C	ENSP00000367096:p.Ile85Met	Somatic		Capture	SOLID	Phase_I	66700319	NM_020403	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	A	12.43	1.935818	0.34189	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.97	4.93	0.64822	Cadherin, N-terminal (1);Cadherin (3);	0.000000	0.85682	D	0.000000	T	0.37348	0.1000	M	0.62088	1.915	0.53005	D	0.999964	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.991;0.999;1.0;1.0	T	0.30650	-0.9971	10	0.87932	D	0	.	3.6081	0.08050	0.4588:0.0:0.5412:0.0	.	85;85;85;85	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	M	85	ENSP00000442186:I85M;ENSP00000367096:I85M;ENSP00000401699:I85M;ENSP00000332060:I85M;ENSP00000367092:I85M	ENSP00000332060:I85M	I	-	3	3	PCDH9	66700319	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.904000	0.48719	1.087000	0.41251	0.528000	0.53228	ATT		0.498	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487	
KLHL1	57626	hgsc.bcm.edu	37	13	70314648	70314648	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr13:70314648G>A	ENST00000377844.4	-	8	2439	c.1680C>T	c.(1678-1680)ggC>ggT	p.G560G	KLHL1_ENST00000545028.1_Silent_p.G367G	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	560					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.G560G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AGCCATCATGGCCTCCCACAG	0.393																																					p.G560G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1680T	13						.						122.0	108.0	113.0					13																	70314648		2203	4300	6503	69212649	SO:0001819	synonymous_variant	57626	exon8			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1680C>T	13.37:g.70314648G>A		Somatic		Capture	SOLID	Phase_I	69212649	NM_020866	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	ENST00000377844.4	37	CCDS9445.1																																																																																				0.393	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866	
LMO7	4008	hgsc.bcm.edu	37	13	76423315	76423315	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr13:76423315A>C	ENST00000321797.8	+	25	4273	c.3552A>C	c.(3550-3552)caA>caC	p.Q1184H	LMO7_ENST00000465261.2_Missense_Mutation_p.Q1184H|LMO7_ENST00000377534.3_Missense_Mutation_p.Q1469H|LMO7_ENST00000341547.4_Missense_Mutation_p.Q1135H|LMO7_ENST00000357063.3_Missense_Mutation_p.Q1469H|LMO7_ENST00000526202.1_Missense_Mutation_p.Q1061H			Q8WWI1	LMO7_HUMAN	LIM domain 7	1469					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q1135H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGAGGCAACAAATCCTTCAGG	0.448																																					p.Q1135H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3405C	13						.						134.0	112.0	119.0					13																	76423315		2203	4300	6503	75321316	SO:0001583	missense	4008	exon26			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.3552A>C	13.37:g.76423315A>C	ENSP00000317802:p.Gln1184His	Somatic		Capture	SOLID	Phase_I	75321316	NM_005358	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37		.	.	.	.	.	.	.	.	.	.	A	21.3	4.121319	0.77436	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000321797;ENST00000526202;ENST00000465261	T;T;T;T;T;T	0.58210	1.3;0.91;0.91;0.75;0.74;0.35	6.02	-3.44	0.04796	.	0.050881	0.85682	D	0.000000	T	0.69133	0.3077	M	0.81942	2.565	0.48040	D	0.999573	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.76575	0.972;0.988;0.983	T	0.75178	-0.3409	10	0.87932	D	0	-17.6537	15.3913	0.74747	0.4003:0.0:0.5997:0.0	.	1061;1135;1184	E9PMS6;Q8WWI1-3;E9PLH4	.;.;.	H	1135;1469;1469;1184;1061;1184	ENSP00000342112:Q1135H;ENSP00000349571:Q1469H;ENSP00000366757:Q1469H;ENSP00000317802:Q1184H;ENSP00000431129:Q1061H;ENSP00000433352:Q1184H	ENSP00000317802:Q1184H	Q	+	3	2	LMO7	75321316	0.996000	0.38824	0.967000	0.41034	0.785000	0.44390	0.494000	0.22467	-0.318000	0.08665	-0.256000	0.11100	CAA		0.448	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358	
DCT	1638	hgsc.bcm.edu	37	13	95092216	95092216	+	Missense_Mutation	SNP	C	C	T	rs562777602		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr13:95092216C>T	ENST00000377028.5	-	8	1909	c.1496G>A	c.(1495-1497)cGa>cAa	p.R499Q	DCT_ENST00000446125.1_Missense_Mutation_p.R532Q	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	499					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.R499Q(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)		ATATCCTTTTCGAAGTCTTCT	0.458													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18158	0.0		0.0	False		,,,				2504	0.0				p.R532Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1595A	13						.						110.0	110.0	110.0					13																	95092216		2203	4300	6503	93890217	SO:0001583	missense	1638	exon10			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.1496G>A	13.37:g.95092216C>T	ENSP00000366227:p.Arg499Gln	Somatic		Capture	SOLID	Phase_I	93890217	NM_001129889	Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.239708	0.39598	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.99186	-5.49;-5.53	4.88	3.15	0.36227	.	0.659026	0.15920	N	0.238177	D	0.94905	0.8353	N	0.17082	0.46	0.26679	N	0.971586	B;B	0.29037	0.181;0.231	B;B	0.16722	0.016;0.013	D	0.89949	0.4078	10	0.18710	T	0.47	-1.5464	7.8411	0.29400	0.0:0.7384:0.0:0.2616	.	532;499	Q09GT4;P40126	.;TYRP2_HUMAN	Q	499;532	ENSP00000366227:R499Q;ENSP00000392762:R532Q	ENSP00000366227:R499Q	R	-	2	0	DCT	93890217	0.753000	0.28349	0.256000	0.24389	0.997000	0.91878	2.269000	0.43346	0.582000	0.29556	0.563000	0.77884	CGA		0.458	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3		
DCT	1638	hgsc.bcm.edu	37	13	95131277	95131277	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr13:95131277C>T	ENST00000377028.5	-	1	646	c.233G>A	c.(232-234)cGa>cAa	p.R78Q	DCT_ENST00000446125.1_Missense_Mutation_p.R78Q	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	78					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.R78Q(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)		ATCCTGGTTTCGTAGGATGTA	0.612																																					p.R78Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G233A	13						.						99.0	85.0	90.0					13																	95131277		2203	4300	6503	93929278	SO:0001583	missense	1638	exon1			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.233G>A	13.37:g.95131277C>T	ENSP00000366227:p.Arg78Gln	Somatic		Capture	SOLID	Phase_I	93929278	NM_001129889	Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087460	0.36855	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.84589	-1.87;-1.87	5.32	4.47	0.54385	.	0.064498	0.64402	D	0.000009	D	0.82600	0.5072	M	0.76838	2.35	0.53005	D	0.999963	B;B	0.32396	0.369;0.323	B;B	0.30646	0.118;0.03	T	0.77702	-0.2489	10	0.13470	T	0.59	-4.5166	11.9798	0.53113	0.0:0.8555:0.0:0.1445	.	78;78	Q09GT4;P40126	.;TYRP2_HUMAN	Q	78	ENSP00000366227:R78Q;ENSP00000392762:R78Q	ENSP00000366227:R78Q	R	-	2	0	DCT	93929278	0.701000	0.27806	0.931000	0.37212	0.808000	0.45660	3.678000	0.54627	1.237000	0.43756	0.650000	0.86243	CGA		0.612	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3		
DZIP1	22873	hgsc.bcm.edu	37	13	96242674	96242674	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr13:96242674C>T	ENST00000376829.2	-	17	2553	c.1702G>A	c.(1702-1704)Gat>Aat	p.D568N	DZIP1_ENST00000361396.2_Missense_Mutation_p.D549N|DZIP1_ENST00000347108.3_Missense_Mutation_p.D568N|DZIP1_ENST00000361156.3_Missense_Mutation_p.D549N	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	568					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.D549N(1)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TGCAACTGATCACTTGAAATG	0.368																																					p.D549N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1645A	13						.						150.0	137.0	141.0					13																	96242674		2203	4299	6502	95040675	SO:0001583	missense	22873	exon16			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.1702G>A	13.37:g.96242674C>T	ENSP00000366025:p.Asp568Asn	Somatic		Capture	SOLID	Phase_I	95040675	NM_014934	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045816	0.36085	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.08984	3.04;3.03;3.03;3.04	5.51	5.51	0.81932	.	0.216031	0.48286	D	0.000192	T	0.21962	0.0529	M	0.62723	1.935	0.32211	N	0.576564	D;D	0.58268	0.982;0.969	P;P	0.58331	0.837;0.691	T	0.03597	-1.1021	10	0.31617	T	0.26	-12.2366	16.334	0.83052	0.0:1.0:0.0:0.0	.	549;568	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	N	568;549;549;568	ENSP00000257312:D568N;ENSP00000355018:D549N;ENSP00000355175:D549N;ENSP00000366025:D568N	ENSP00000257312:D568N	D	-	1	0	DZIP1	95040675	0.925000	0.31364	0.136000	0.22124	0.048000	0.14542	2.937000	0.48979	2.584000	0.87258	0.561000	0.74099	GAT		0.368	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934	
DZIP1	22873	hgsc.bcm.edu	37	13	96277054	96277054	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr13:96277054C>A	ENST00000376829.2	-	8	1791	c.940G>T	c.(940-942)Gaa>Taa	p.E314*	DZIP1_ENST00000361396.2_Nonsense_Mutation_p.E314*|DZIP1_ENST00000347108.3_Nonsense_Mutation_p.E314*|DZIP1_ENST00000361156.3_Nonsense_Mutation_p.E314*	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	314					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.E314*(1)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GAAGTTAATTCTTTAAATTCC	0.323																																					p.E314X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G940T	13						.						105.0	98.0	100.0					13																	96277054		2196	4300	6496	95075055	SO:0001587	stop_gained	22873	exon8			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.940G>T	13.37:g.96277054C>A	ENSP00000366025:p.Glu314*	Somatic		Capture	SOLID	Phase_I	95075055	NM_014934	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Nonsense_Mutation	SNP	ENST00000376829.2	37	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	C	45	11.963054	0.99622	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	.	.	.	5.4	4.55	0.56014	.	0.441616	0.25122	N	0.032980	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-14.0075	14.8051	0.69948	0.0:0.9294:0.0:0.0706	.	.	.	.	X	314	.	ENSP00000257312:E314X	E	-	1	0	DZIP1	95075055	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.997000	0.57016	1.385000	0.46445	0.655000	0.94253	GAA		0.323	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934	
IPO5	3843	hgsc.bcm.edu	37	13	98670828	98670828	+	Silent	SNP	C	C	T	rs140767528	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr13:98670828C>T	ENST00000490680.1	+	23	2771	c.2706C>T	c.(2704-2706)taC>taT	p.Y902Y	IPO5_ENST00000261574.5_Silent_p.Y920Y|IPO5_ENST00000539640.1_Silent_p.Y777Y			O00410	IPO5_HUMAN	importin 5	902					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.Y920Y(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						CATTTAAATACGCAGAATATT	0.443													T|||	9	0.00179712	0.0	0.0	5008	,	,		20116	0.0089		0.0	False		,,,				2504	0.0				p.Y920Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2760T	13						.						162.0	145.0	151.0					13																	98670828		2203	4300	6503	97468829	SO:0001819	synonymous_variant	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.2706C>T	13.37:g.98670828C>T		Somatic		Capture	SOLID	Phase_I	97468829	NM_002271	B4DZA0|O15257|Q5T578|Q86XC7	Silent	SNP	ENST00000490680.1	37		9	0.004120879120879121	0	0.0	0	0.0	9	0.015734265734265736	0	0.0	T	9.160	1.018361	0.19355	.	.	ENSG00000065150	ENST00000469360	.	.	.	5.92	-3.57	0.04612	.	.	.	.	.	T	0.50480	0.1618	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63681	-0.6582	4	.	.	.	-8.5326	16.364	0.83307	0.0:0.5025:0.0:0.4975	.	.	.	.	M	904	.	.	T	+	2	0	IPO5	97468829	0.718000	0.27976	0.975000	0.42487	0.995000	0.86356	-0.182000	0.09726	-0.649000	0.05430	-0.269000	0.10298	ACG		0.443	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271	
SLC15A1	6564	hgsc.bcm.edu	37	13	99337077	99337077	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr13:99337077C>T	ENST00000376503.5	-	23	2083	c.2028G>A	c.(2026-2028)gcG>gcA	p.A676A		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	676					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)	p.A676A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CTTCGATCTCCGCTGGGTTGA	0.433																																					p.A676A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2028A	13						.						113.0	96.0	102.0					13																	99337077		2203	4300	6503	98135078	SO:0001819	synonymous_variant	6564	exon23			U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.2028G>A	13.37:g.99337077C>T		Somatic		Capture	SOLID	Phase_I	98135078	NM_005073	Q5VW82	Silent	SNP	ENST00000376503.5	37	CCDS9489.1																																																																																				0.433	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073	
UPF3A	65110	hgsc.bcm.edu	37	13	115057115	115057115	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr13:115057115C>T	ENST00000375299.3	+	7	750	c.694C>T	c.(694-696)Cga>Tga	p.R232*	UPF3A_ENST00000475218.2_3'UTR|UPF3A_ENST00000351487.5_Nonsense_Mutation_p.R199*	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	232					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R232*(1)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		TTAGAGAATTCgagaagagaa	0.448																																					p.R199X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C595T	13						.						65.0	65.0	65.0					13																	115057115		2203	4300	6503	114075217	SO:0001587	stop_gained	65110	exon6			AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.694C>T	13.37:g.115057115C>T	ENSP00000364448:p.Arg232*	Somatic		Capture	SOLID	Phase_I	114075217	NM_080687	A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Nonsense_Mutation	SNP	ENST00000375299.3	37	CCDS9543.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131261	0.77549	.	.	ENSG00000169062	ENST00000375299;ENST00000351487;ENST00000543577	.	.	.	5.84	5.84	0.93424	.	0.296857	0.29152	N	0.012988	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.9557	13.642	0.62257	0.1548:0.8452:0.0:0.0	.	.	.	.	X	232;199;31	.	.	R	+	1	2	UPF3A	114075217	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	1.657000	0.37366	2.765000	0.95021	0.655000	0.94253	CGA		0.448	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2		
CHUK	1147	hgsc.bcm.edu	37	10	101980421	101980421	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:101980421C>T	ENST00000370397.7	-	5	484	c.398G>A	c.(397-399)cGa>cAa	p.R133Q		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	133	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|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)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)	p.R133Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	ATGCAAATATCGAATCCCAGA	0.303																																					p.R133Q	Ovarian(159;52 1904 10536 35305 37148)											CHUK,large_intestine,NS,Substitution - Nonsense,-1	.	1	Substitution - Missense(1)	large_intestine(1)	c.G398A	10						.						77.0	76.0	76.0					10																	101980421		2203	4298	6501	101970411	SO:0001583	missense	1147	exon5			AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.398G>A	10.37:g.101980421C>T	ENSP00000359424:p.Arg133Gln	Somatic		Capture	SOLID	Phase_I	101970411	NM_001278	O14666|Q13132|Q5W0I4|Q92467	Missense_Mutation	SNP	ENST00000370397.7	37	CCDS7488.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130016	0.37630	.	.	ENSG00000213341	ENST00000370397	T	0.64618	-0.11	5.85	2.61	0.31194	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.118006	0.64402	N	0.000018	T	0.31606	0.0802	N	0.03177	-0.4	0.32548	N	0.532743	B	0.09022	0.002	B	0.01281	0.0	T	0.19418	-1.0306	10	0.24483	T	0.36	-3.9688	5.5783	0.17235	0.0:0.6157:0.1693:0.215	.	133	O15111	IKKA_HUMAN	Q	133	ENSP00000359424:R133Q	ENSP00000359424:R133Q	R	-	2	0	CHUK	101970411	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	4.552000	0.60747	0.805000	0.34159	0.563000	0.77884	CGA		0.303	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278	
PKD2L1	9033	hgsc.bcm.edu	37	10	102054773	102054773	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:102054773G>T	ENST00000318222.3	-	8	1846	c.1464C>A	c.(1462-1464)ttC>ttA	p.F488L	PKD2L1_ENST00000353274.3_Missense_Mutation_p.F488L|PKD2L1_ENST00000338519.3_Missense_Mutation_p.F413L	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	488					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)	p.F488L(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CATAGGCGAAGAAAACAATGA	0.522																																					p.F488L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1464A	10						.						143.0	133.0	136.0					10																	102054773		2203	4300	6503	102044763	SO:0001583	missense	9033	exon8			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1464C>A	10.37:g.102054773G>T	ENSP00000325296:p.Phe488Leu	Somatic		Capture	SOLID	Phase_I	102044763	NM_016112	O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472080	0.84533	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	D;D;D	0.96913	-4.17;-4.17;-4.17	5.93	0.0437	0.14223	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.97081	0.9046	M	0.73962	2.25	0.46901	D	0.999246	D;D	0.89917	1.0;0.995	D;D	0.91635	0.999;0.967	D	0.94747	0.7924	10	0.28530	T	0.3	-19.2783	11.61	0.51053	0.3155:0.0:0.6845:0.0	.	441;488	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	L	413;488;488;486	ENSP00000345068:F413L;ENSP00000266049:F488L;ENSP00000325296:F488L	ENSP00000325296:F488L	F	-	3	2	PKD2L1	102044763	1.000000	0.71417	0.932000	0.37286	0.991000	0.79684	1.654000	0.37334	0.025000	0.15241	0.561000	0.74099	TTC		0.522	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112	
SFXN3	81855	hgsc.bcm.edu	37	10	102794552	102794552	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:102794552G>A	ENST00000224807.5	+	3	569	c.113G>A	c.(112-114)cGa>cAa	p.R38Q	SFXN3_ENST00000393459.1_Missense_Mutation_p.R34Q	NM_030971.3	NP_112233.2	Q9BWM7	SFXN3_HUMAN	sideroflexin 3	38					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	cation transmembrane transporter activity (GO:0008324)	p.R38Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		ACTGATCCTCGAAATCTGCTG	0.532																																					p.R38Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G113A	10						.						99.0	104.0	102.0					10																	102794552		2203	4300	6503	102784542	SO:0001583	missense	81855	exon3			AK074707	CCDS7508.2	10q24.32	2008-09-04			ENSG00000107819	ENSG00000107819		"""Sideroflexins"""	16087	protein-coding gene	gene with protein product		615571					Standard	NM_030971		Approved	SFX3	uc001ksp.3	Q9BWM7	OTTHUMG00000018921	ENST00000224807.5:c.113G>A	10.37:g.102794552G>A	ENSP00000224807:p.Arg38Gln	Somatic		Capture	SOLID	Phase_I	102784542	NM_030971	Q8NCJ0|Q9NTP4	Missense_Mutation	SNP	ENST00000224807.5	37	CCDS7508.2	.	.	.	.	.	.	.	.	.	.	G	32	5.150514	0.94645	.	.	ENSG00000107819	ENST00000393459;ENST00000224807	T;T	0.31510	1.49;1.49	5.86	4.88	0.63580	.	0.056790	0.64402	D	0.000001	T	0.58524	0.2128	M	0.87381	2.88	0.54753	D	0.999986	D;D;D	0.67145	0.992;0.996;0.996	P;P;P	0.61592	0.891;0.889;0.889	T	0.63395	-0.6647	10	0.48119	T	0.1	-7.1505	17.7133	0.88328	0.0:0.0:0.8691:0.1309	.	38;38;38	B4DRS6;A6NCZ6;Q9BWM7	.;.;SFXN3_HUMAN	Q	34;38	ENSP00000377103:R34Q;ENSP00000224807:R38Q	ENSP00000224807:R38Q	R	+	2	0	SFXN3	102784542	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.660000	0.61511	2.775000	0.95449	0.655000	0.94253	CGA		0.532	SFXN3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_030971	
PDCD11	22984	hgsc.bcm.edu	37	10	105193781	105193781	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:105193781C>A	ENST00000369797.3	+	23	3645	c.3551C>A	c.(3550-3552)tCt>tAt	p.S1184Y		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1184	S1 motif 10. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.S1184Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TTGCTCACTTCTCTGAGCTTC	0.512																																					p.S1184Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3551A	10						.						96.0	95.0	95.0					10																	105193781		2203	4300	6503	105183771	SO:0001583	missense	22984	exon23			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.3551C>A	10.37:g.105193781C>A	ENSP00000358812:p.Ser1184Tyr	Somatic		Capture	SOLID	Phase_I	105183771	NM_014976	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611814	0.66558	.	.	ENSG00000148843	ENST00000369797	T	0.21543	2.0	5.37	5.37	0.77165	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	0.218970	0.48767	D	0.000163	T	0.52435	0.1734	M	0.87097	2.86	0.52501	D	0.999956	D	0.71674	0.998	D	0.65010	0.931	T	0.61083	-0.7134	10	0.87932	D	0	-12.1993	18.7062	0.91639	0.0:1.0:0.0:0.0	.	1184	Q14690	RRP5_HUMAN	Y	1184	ENSP00000358812:S1184Y	ENSP00000358812:S1184Y	S	+	2	0	PDCD11	105183771	1.000000	0.71417	0.944000	0.38274	0.830000	0.47004	3.956000	0.56722	2.510000	0.84645	0.462000	0.41574	TCT		0.512	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1		
SH3PXD2A	9644	hgsc.bcm.edu	37	10	105372924	105372924	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:105372924G>A	ENST00000369774.4	-	12	1220	c.944C>T	c.(943-945)gCg>gTg	p.A315V	SH3PXD2A_ENST00000427662.2_Missense_Mutation_p.A177V|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.A150V|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.A182V|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.A287V			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	315	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)	p.A287V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GGATGCTGGCGCCCAGCCCTC	0.577																																					p.A287V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C860T	10						.						92.0	96.0	95.0					10																	105372924		2203	4300	6503	105362914	SO:0001583	missense	9644	exon11			AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.944C>T	10.37:g.105372924G>A	ENSP00000358789:p.Ala315Val	Somatic		Capture	SOLID	Phase_I	105362914	NM_014631	D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37		.	.	.	.	.	.	.	.	.	.	G	34	5.409830	0.96072	.	.	ENSG00000107957	ENST00000427662;ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.46	5.46	0.80206	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.34600	0.0903	N	0.20530	0.585	0.80722	D	1	D;D;P;D;D	0.89917	1.0;1.0;0.882;0.971;1.0	D;D;B;P;D	0.91635	0.998;0.995;0.411;0.828;0.999	T	0.18650	-1.0330	10	0.56958	D	0.05	-19.4906	19.297	0.94126	0.0:0.0:1.0:0.0	.	315;164;177;160;287	Q5TCZ1;B7Z9L8;F8WCK5;B7Z3B0;Q5TCZ1-3	SPD2A_HUMAN;.;.;.;.	V	177;315;287;122;230;182;150	ENSP00000392664:A177V;ENSP00000358789:A315V;ENSP00000348215:A287V;ENSP00000443663:A182V;ENSP00000441514:A150V	ENSP00000318135:A122V	A	-	2	0	SH3PXD2A	105362914	1.000000	0.71417	0.972000	0.41901	0.909000	0.53808	9.869000	0.99810	2.559000	0.86315	0.491000	0.48974	GCG		0.577	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631	
CFAP43	80217	hgsc.bcm.edu	37	10	105923953	105923953	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:105923953G>A	ENST00000357060.3	-	24	3260	c.3145C>T	c.(3145-3147)Cga>Tga	p.R1049*	WDR96_ENST00000428666.1_Nonsense_Mutation_p.R1050*	NM_025145.5	NP_079421.5												p.R1049*(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ATAATTTCTCGAATTCGAACA	0.373																																					p.R1049X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3145T	10						.						126.0	111.0	116.0					10																	105923953		2203	4299	6502	105913943	SO:0001587	stop_gained	80217	exon24																														ENST00000357060.3:c.3145C>T	10.37:g.105923953G>A	ENSP00000349568:p.Arg1049*	Somatic		Capture	SOLID	Phase_I	105913943	NM_025145		Nonsense_Mutation	SNP	ENST00000357060.3	37	CCDS31281.1	.	.	.	.	.	.	.	.	.	.	G	40	8.380088	0.98786	.	.	ENSG00000197748	ENST00000357060;ENST00000428666	.	.	.	6.06	-5.27	0.02763	.	0.833329	0.10859	N	0.626352	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	5.8204	0.18524	0.0596:0.3319:0.1974:0.4112	.	.	.	.	X	1049;1050	.	ENSP00000349568:R1049X	R	-	1	2	WDR96	105913943	0.097000	0.21791	0.801000	0.32222	0.939000	0.58152	0.230000	0.17852	-0.441000	0.07201	0.650000	0.86243	CGA		0.373	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
SORCS1	114815	hgsc.bcm.edu	37	10	108437075	108437075	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:108437075G>T	ENST00000263054.6	-	13	1835	c.1828C>A	c.(1828-1830)Ctt>Att	p.L610I	SORCS1_ENST00000369698.1_Missense_Mutation_p.L145I|SORCS1_ENST00000344440.6_Missense_Mutation_p.L610I	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	610					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.L610I(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCTTACCAAAGATGTCGAATT	0.463																																					p.L610I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1828A	10						.						200.0	157.0	171.0					10																	108437075		2203	4300	6503	108427065	SO:0001583	missense	114815	exon13			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1828C>A	10.37:g.108437075G>T	ENSP00000263054:p.Leu610Ile	Somatic		Capture	SOLID	Phase_I	108427065	NM_052918	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142018	0.77775	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.28069	1.63;1.63;1.63	5.96	5.96	0.96718	VPS10 (1);	0.133678	0.52532	D	0.000064	T	0.37598	0.1009	L	0.43152	1.355	0.45899	D	0.998747	P;P;P;P;P	0.40534	0.598;0.72;0.72;0.598;0.72	B;P;P;B;P	0.49477	0.408;0.612;0.612;0.408;0.612	T	0.02144	-1.1206	9	.	.	.	.	13.5886	0.61946	0.0707:0.0:0.9293:0.0	.	610;610;610;610;610	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	I	145;610;610	ENSP00000358712:L145I;ENSP00000263054:L610I;ENSP00000345964:L610I	.	L	-	1	0	SORCS1	108427065	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.233000	0.51311	2.833000	0.97629	0.650000	0.86243	CTT		0.463	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	
DUSP5	1847	hgsc.bcm.edu	37	10	112269900	112269900	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:112269900G>A	ENST00000369583.3	+	4	1155	c.871G>A	c.(871-873)Gat>Aat	p.D291N	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	291	Tyrosine-protein phosphatase.				endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.D291N(2)		kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		GGAGGCCTTCGATTACATCAA	0.572																																					p.D291N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G871A	10						.						92.0	76.0	82.0					10																	112269900		2203	4300	6503	112259890	SO:0001583	missense	1847	exon4			U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.871G>A	10.37:g.112269900G>A	ENSP00000358596:p.Asp291Asn	Somatic		Capture	SOLID	Phase_I	112259890	NM_004419	Q12997|Q5T603	Missense_Mutation	SNP	ENST00000369583.3	37	CCDS7566.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667323	0.67814	.	.	ENSG00000138166	ENST00000369583	D	0.85556	-2.0	5.86	5.86	0.93980	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.178744	0.64402	D	0.000015	T	0.79857	0.4518	N	0.25060	0.705	0.80722	D	1	B	0.09022	0.002	B	0.17098	0.017	T	0.74241	-0.3729	10	0.87932	D	0	.	19.1654	0.93555	0.0:0.0:1.0:0.0	.	291	Q16690	DUS5_HUMAN	N	291	ENSP00000358596:D291N	ENSP00000358596:D291N	D	+	1	0	DUSP5	112259890	1.000000	0.71417	0.970000	0.41538	0.752000	0.42762	9.869000	0.99810	2.778000	0.95560	0.655000	0.94253	GAT		0.572	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050333.1	NM_004419	
TDRD1	56165	hgsc.bcm.edu	37	10	115985961	115985961	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:115985961G>T	ENST00000369280.1	+	22	3621	c.3161G>T	c.(3160-3162)aGa>aTa	p.R1054I	TDRD1_ENST00000369281.2_Missense_Mutation_p.R940I|TDRD1_ENST00000422662.1_Missense_Mutation_p.R658I|TDRD1_ENST00000251864.2_Missense_Mutation_p.R1054I|TDRD1_ENST00000369282.1_Missense_Mutation_p.R1054I			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1054					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)	p.R1054I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CAAATTATTAGATGTTCACTT	0.403																																					p.R1054I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3161T	10						.						72.0	67.0	69.0					10																	115985961		2203	4300	6503	115975951	SO:0001583	missense	56165	exon22			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.3161G>T	10.37:g.115985961G>T	ENSP00000358286:p.Arg1054Ile	Somatic		Capture	SOLID	Phase_I	115975951	NM_198795	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37		.	.	.	.	.	.	.	.	.	.	G	18.75	3.689798	0.68271	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.10860	2.83;2.83;2.83;2.83;2.83	6.01	0.0113	0.14086	Maternal tudor protein (1);	0.277715	0.38548	N	0.001646	T	0.26448	0.0646	M	0.84948	2.725	0.48632	D	0.999682	D;P;P;P;P	0.60160	0.987;0.939;0.952;0.925;0.94	P;P;P;P;P	0.61397	0.888;0.776;0.828;0.667;0.571	T	0.02574	-1.1139	10	0.62326	D	0.03	-18.1719	6.7986	0.23738	0.4803:0.1384:0.3813:0.0	.	658;1054;940;1054;940	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	I	1054;1054;940;658;1054	ENSP00000358288:R1054I;ENSP00000251864:R1054I;ENSP00000358287:R940I;ENSP00000402794:R658I;ENSP00000358286:R1054I	ENSP00000251864:R1054I	R	+	2	0	TDRD1	115975951	0.024000	0.19004	0.986000	0.45419	0.942000	0.58702	-0.107000	0.10873	0.186000	0.20125	-0.312000	0.09012	AGA		0.403	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2		
ATRNL1	26033	hgsc.bcm.edu	37	10	117059573	117059573	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:117059573G>T	ENST00000355044.3	+	16	2571	c.2445G>T	c.(2443-2445)aaG>aaT	p.K815N	ATRNL1_ENST00000303745.7_5'Flank|ATRNL1_ENST00000423111.2_5'Flank	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	815	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.K815N(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GCTTGCGCAAGATCAATATAT	0.403																																					p.K815N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2445T	10						.						118.0	111.0	113.0					10																	117059573		2203	4300	6503	117049563	SO:0001583	missense	26033	exon16			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2445G>T	10.37:g.117059573G>T	ENSP00000347152:p.Lys815Asn	Somatic		Capture	SOLID	Phase_I	117049563	NM_207303	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745562	0.69418	.	.	ENSG00000107518	ENST00000355044	T	0.17213	2.29	5.76	2.94	0.34122	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.85682	D	0.000000	T	0.37679	0.1012	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.05971	-1.0853	10	0.51188	T	0.08	-20.0197	11.4097	0.49919	0.1888:0.0:0.8112:0.0	.	815	Q5VV63	ATRN1_HUMAN	N	815	ENSP00000347152:K815N	ENSP00000347152:K815N	K	+	3	2	ATRNL1	117049563	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.409000	0.52657	0.462000	0.27095	0.650000	0.86243	AAG		0.403	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	
TACC2	10579	hgsc.bcm.edu	37	10	123846789	123846789	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:123846789G>T	ENST00000369005.1	+	4	5114	c.4774G>T	c.(4774-4776)Gac>Tac	p.D1592Y	TACC2_ENST00000453444.2_Missense_Mutation_p.D1592Y|TACC2_ENST00000515603.1_Missense_Mutation_p.D1592Y|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.D1592Y|TACC2_ENST00000515273.1_Missense_Mutation_p.D1592Y	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1592					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.D1592Y(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CGTGGCCCAAGACAGAATTCC	0.582																																					p.D1592Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4774T	10						.						64.0	59.0	61.0					10																	123846789		2203	4300	6503	123836779	SO:0001583	missense	10579	exon4			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.4774G>T	10.37:g.123846789G>T	ENSP00000358001:p.Asp1592Tyr	Somatic		Capture	SOLID	Phase_I	123836779	NM_206862	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.788039	0.49997	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.05786	3.41;3.57;3.39;3.41;3.57	5.01	0.931	0.19460	.	0.474213	0.15732	N	0.247343	T	0.07863	0.0197	L	0.29908	0.895	0.09310	N	1	D;D;P	0.55385	0.971;0.971;0.94	P;P;P	0.52710	0.707;0.707;0.564	T	0.24905	-1.0147	10	0.87932	D	0	-4.6369	5.1729	0.15120	0.2462:0.149:0.6047:0.0	.	1592;1592;1592	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	Y	1592;1592;1592;1592;1592;1582	ENSP00000358001:D1592Y;ENSP00000424467:D1592Y;ENSP00000427618:D1592Y;ENSP00000334280:D1592Y;ENSP00000395048:D1592Y	ENSP00000334280:D1592Y	D	+	1	0	TACC2	123836779	0.002000	0.14202	0.000000	0.03702	0.146000	0.21551	0.601000	0.24119	-0.092000	0.12417	0.551000	0.68910	GAC		0.582	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1		
TACC2	10579	hgsc.bcm.edu	37	10	123970115	123970115	+	Missense_Mutation	SNP	G	G	A	rs529296575	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:123970115G>A	ENST00000369005.1	+	9	6515	c.6175G>A	c.(6175-6177)Gct>Act	p.A2059T	TACC2_ENST00000369004.3_Missense_Mutation_p.A137T|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000260733.3_Missense_Mutation_p.A137T|TACC2_ENST00000360561.3_Missense_Mutation_p.A137T|TACC2_ENST00000453444.2_Missense_Mutation_p.A2063T|TACC2_ENST00000515603.1_Missense_Mutation_p.A2014T|TACC2_ENST00000358010.1_Missense_Mutation_p.A205T|TACC2_ENST00000513429.1_Missense_Mutation_p.A205T|TACC2_ENST00000368999.1_Missense_Mutation_p.A137T|TACC2_ENST00000334433.3_Missense_Mutation_p.A2059T|TACC2_ENST00000515273.1_Missense_Mutation_p.A2063T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2059					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.A2059T(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGCCTCAGACGCTAAGAATCA	0.532													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19333	0.0		0.0	False		,,,				2504	0.0				p.A137T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G409A	10						.						132.0	116.0	122.0					10																	123970115		2203	4300	6503	123960105	SO:0001583	missense	10579	exon3			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.6175G>A	10.37:g.123970115G>A	ENSP00000358001:p.Ala2059Thr	Somatic		Capture	SOLID	Phase_I	123960105	NM_206860	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	3.196	-0.164752	0.06502	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539	T;T;T;T;T;T;T;T;T;T;T;T	0.08896	4.0;3.54;4.01;4.03;4.0;3.54;4.01;3.43;3.43;3.43;3.43;3.04	5.64	-11.3	0.00108	.	1.599280	0.04056	N	0.305481	T	0.04679	0.0127	L	0.36672	1.1	0.09310	N	1	P;B;B;B;B;B;B;B;B	0.37122	0.583;0.152;0.152;0.152;0.152;0.132;0.079;0.441;0.152	B;B;B;B;B;B;B;B;B	0.27380	0.079;0.036;0.022;0.036;0.036;0.049;0.049;0.079;0.022	T	0.04467	-1.0949	10	0.12766	T	0.61	3.5565	11.5212	0.50551	0.0569:0.2073:0.5725:0.1632	.	154;2063;137;2014;2063;137;137;205;2059	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-5;O95359	.;.;.;.;.;.;.;.;TACC2_HUMAN	T	2059;205;2063;2014;2059;205;2063;2049;137;137;137;137;154	ENSP00000358001:A2059T;ENSP00000425062:A205T;ENSP00000424467:A2063T;ENSP00000427618:A2014T;ENSP00000334280:A2059T;ENSP00000350701:A205T;ENSP00000395048:A2063T;ENSP00000353763:A137T;ENSP00000357995:A137T;ENSP00000422815:A137T;ENSP00000260733:A137T;ENSP00000420967:A154T	ENSP00000260733:A137T	A	+	1	0	TACC2	123960105	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.692000	0.05127	-3.210000	0.00214	-1.045000	0.02358	GCT		0.532	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1		
FAM24A	118670	hgsc.bcm.edu	37	10	124671154	124671154	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:124671154G>A	ENST00000368894.1	+	2	125	c.4G>A	c.(4-6)Gca>Aca	p.A2T		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	2						extracellular region (GO:0005576)		p.A2T(1)		large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		CTTAGGCATGGCAAAGATGTT	0.502																																					p.A2T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4A	10						.						302.0	253.0	270.0					10																	124671154		2203	4300	6503	124661144	SO:0001583	missense	118670	exon2				CCDS31304.1	10q26.13	2008-08-27			ENSG00000203795	ENSG00000203795			23470	protein-coding gene	gene with protein product							Standard	NM_001029888		Approved	AC073585.4	uc001lgv.3	A6NFZ4	OTTHUMG00000019193	ENST00000368894.1:c.4G>A	10.37:g.124671154G>A	ENSP00000357889:p.Ala2Thr	Somatic		Capture	SOLID	Phase_I	124661144	NM_001029888		Missense_Mutation	SNP	ENST00000368894.1	37	CCDS31304.1	.	.	.	.	.	.	.	.	.	.	G	7.744	0.701867	0.15172	.	.	ENSG00000203795	ENST00000368894	.	.	.	3.15	-2.45	0.06481	.	.	.	.	.	T	0.21062	0.0507	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.17098	0.017	T	0.24119	-1.0169	8	0.23302	T	0.38	.	6.5539	0.22450	0.0:0.1316:0.6108:0.2575	.	2	A6NFZ4	FA24A_HUMAN	T	2	.	ENSP00000357889:A2T	A	+	1	0	FAM24A	124661144	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-2.384000	0.01063	-0.482000	0.06782	-0.521000	0.04368	GCA		0.502	FAM24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050824.1	XM_058332	
CTBP2	1488	hgsc.bcm.edu	37	10	126714883	126714883	+	Intron	SNP	C	C	T	rs559795416		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:126714883C>T	ENST00000337195.5	-	3	458				CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000309035.6_Silent_p.T482T|CTBP2_ENST00000531469.1_Intron	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)	p.T482T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCGTGTATGCCGTGGAGTAGG	0.682																																					p.T482T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1446A	10						.						42.0	46.0	45.0					10																	126714883		2202	4300	6502	126704873	SO:0001627	intron_variant	1488	exon1			AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+12682G>A	10.37:g.126714883C>T		Somatic		Capture	SOLID	Phase_I	126704873	NM_022802	A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	CCDS7643.1																																																																																				0.682	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914	
CLRN3	119467	hgsc.bcm.edu	37	10	129682122	129682122	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:129682122T>G	ENST00000368671.3	-	2	409	c.247A>C	c.(247-249)Aat>Cat	p.N83H		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	83						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.N83H(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				TGGGAAGAATTATTCAGTATC	0.453																																					p.N83H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A247C	10						.						106.0	101.0	103.0					10																	129682122		2203	4300	6503	129572112	SO:0001583	missense	119467	exon2			BC029478	CCDS7656.1	10q26.2	2006-11-24	2006-11-23	2006-11-23	ENSG00000180745	ENSG00000180745			20795	protein-coding gene	gene with protein product			"""transmembrane protein 12"""	TMEM12		12145752, 12080385	Standard	NM_152311		Approved	MGC32871, USH3AL1	uc001lka.1	Q8NCR9	OTTHUMG00000019253	ENST00000368671.3:c.247A>C	10.37:g.129682122T>G	ENSP00000357660:p.Asn83His	Somatic		Capture	SOLID	Phase_I	129572112	NM_152311	Q6MZX8	Missense_Mutation	SNP	ENST00000368671.3	37	CCDS7656.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.423593	0.62733	.	.	ENSG00000180745	ENST00000368671	T	0.76709	-1.04	5.17	-1.08	0.09936	.	0.809841	0.11546	N	0.553294	T	0.78528	0.4297	L	0.45581	1.43	0.09310	N	1	D;D	0.55385	0.971;0.965	P;P	0.57371	0.819;0.639	T	0.68554	-0.5378	10	0.49607	T	0.09	.	9.4534	0.38741	0.0:0.3841:0.0:0.6159	.	83;15	Q8NCR9;Q8NCR9-2	CLRN3_HUMAN;.	H	83	ENSP00000357660:N83H	ENSP00000357660:N83H	N	-	1	0	CLRN3	129572112	0.000000	0.05858	0.000000	0.03702	0.831000	0.47069	-0.246000	0.08878	0.013000	0.14918	0.529000	0.55759	AAT		0.453	CLRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050987.1	NM_152311	
DIP2C	22982	hgsc.bcm.edu	37	10	461740	461740	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:461740G>T	ENST00000280886.6	-	7	915	c.828C>A	c.(826-828)ttC>ttA	p.F276L	DIP2C_ENST00000381496.3_Missense_Mutation_p.F169L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	276						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.F276L(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CATCGACAAAGAATTCTCGTA	0.418																																					p.F276L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C828A	10						.						166.0	161.0	162.0					10																	461740		2203	4300	6503	451740	SO:0001583	missense	22982	exon7			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.828C>A	10.37:g.461740G>T	ENSP00000280886:p.Phe276Leu	Somatic		Capture	SOLID	Phase_I	451740	NM_014974	B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341124	0.81911	.	.	ENSG00000151240	ENST00000280886;ENST00000381496	T;T	0.44482	0.92;0.92	5.27	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.61640	0.2363	M	0.80616	2.505	0.42809	D	0.993958	D	0.61080	0.989	D	0.65573	0.936	T	0.65340	-0.6192	10	0.56958	D	0.05	-33.9021	10.7009	0.45926	0.1463:0.0:0.8537:0.0	.	276	Q9Y2E4	DIP2C_HUMAN	L	276;169	ENSP00000280886:F276L;ENSP00000370907:F169L	ENSP00000280886:F276L	F	-	3	2	DIP2C	451740	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.885000	0.39678	2.468000	0.83385	0.591000	0.81541	TTC		0.418	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974	
PTPLA	9200	hgsc.bcm.edu	37	10	17645978	17645978	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:17645978T>G	ENST00000361271.3	-	2	363	c.326A>C	c.(325-327)aAa>aCa	p.K109T		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	109					fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)	p.K109T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						CTGAATACTTTTATATAAACC	0.308																																					p.K109T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A326C	10						.						60.0	70.0	66.0					10																	17645978		2203	4299	6502	17685984	SO:0001583	missense	9200	exon2			AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"""cementum attachment protein"""	610467	"""protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"""			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.326A>C	10.37:g.17645978T>G	ENSP00000355308:p.Lys109Thr	Somatic		Capture	SOLID	Phase_I	17685984	NM_014241	B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Missense_Mutation	SNP	ENST00000361271.3	37	CCDS7121.1	.	.	.	.	.	.	.	.	.	.	T	8.997	0.979154	0.18812	.	.	ENSG00000165996	ENST00000361271	T	0.11821	2.74	4.88	1.08	0.20341	.	0.257041	0.37483	N	0.002065	T	0.10551	0.0258	L	0.40543	1.245	0.80722	D	1	P;B	0.41848	0.763;0.001	B;B	0.41894	0.369;0.004	T	0.25328	-1.0135	10	0.15066	T	0.55	-22.7733	8.8321	0.35091	0.0:0.3373:0.0:0.6627	.	109;109	B0YJ81-2;B0YJ81	.;HACD1_HUMAN	T	109	ENSP00000355308:K109T	ENSP00000355308:K109T	K	-	2	0	PTPLA	17685984	0.968000	0.33430	1.000000	0.80357	0.813000	0.45954	0.119000	0.15626	0.255000	0.21593	0.455000	0.32223	AAA		0.308	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047046.1	NM_014241	
MAP3K8	1326	hgsc.bcm.edu	37	10	30739439	30739439	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:30739439G>T	ENST00000263056.1	+	5	1453	c.757G>T	c.(757-759)Gat>Tat	p.D253Y	MAP3K8_ENST00000375321.1_Missense_Mutation_p.D253Y|MAP3K8_ENST00000542547.1_Missense_Mutation_p.D253Y	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)	p.D253Y(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				GATCCATCATGATATTAAACG	0.388																																					p.D253Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G757T	10						.						69.0	67.0	68.0					10																	30739439		2203	4300	6503	30779445	SO:0001583	missense	1326	exon5			D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.757G>T	10.37:g.30739439G>T	ENSP00000263056:p.Asp253Tyr	Somatic		Capture	SOLID	Phase_I	30779445	NM_005204	A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Missense_Mutation	SNP	ENST00000263056.1	37	CCDS7166.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.676518|4.676518	0.88445|0.88445	.|.	.|.	ENSG00000107968|ENSG00000107968	ENST00000375328;ENST00000263056;ENST00000542547;ENST00000415139;ENST00000375321|ENST00000430603	D;D;D;D|.	0.93076|.	-3.16;-3.16;-3.16;-3.16|.	5.33|5.33	5.33|5.33	0.75918|0.75918	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91573|0.91573	0.7338|0.7338	H|H	0.99074|0.99074	4.42|4.42	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.94914|0.94914	0.8067|0.8067	10|5	0.87932|.	D|.	0|.	.|.	19.3825|19.3825	0.94543|0.94543	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	253|.	P41279|.	M3K8_HUMAN|.	Y|I	253|173	ENSP00000263056:D253Y;ENSP00000443610:D253Y;ENSP00000409653:D253Y;ENSP00000364470:D253Y|.	ENSP00000263056:D253Y|.	D|M	+|+	1|3	0|0	MAP3K8|MAP3K8	30779445|30779445	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.984000|0.984000	0.73092|0.73092	9.199000|9.199000	0.95003|0.95003	2.658000|2.658000	0.90341|0.90341	0.650000|0.650000	0.86243|0.86243	GAT|ATG		0.388	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047416.2	NM_005204	
KIF5B	3799	hgsc.bcm.edu	37	10	32320139	32320139	+	Silent	SNP	A	A	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:32320139A>G	ENST00000302418.4	-	14	1900	c.1443T>C	c.(1441-1443)aaT>aaC	p.N481N		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	481					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.N481N(1)	KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TAGAGGCATCATTTTCTGCTT	0.388			T	"""RET, ALK"""	NSCLC																																p.N481N			Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1443C	10						.						114.0	107.0	109.0					10																	32320139		2203	4300	6503	32360145	SO:0001819	synonymous_variant	3799	exon14			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.1443T>C	10.37:g.32320139A>G		Somatic		Capture	SOLID	Phase_I	32360145	NM_004521	A0AVB2|Q5VZ85	Silent	SNP	ENST00000302418.4	37	CCDS7171.1																																																																																				0.388	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521	
CUL2	8453	hgsc.bcm.edu	37	10	35327980	35327980	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:35327980G>A	ENST00000374748.1	-	10	1058	c.745C>T	c.(745-747)Cga>Tga	p.R249*	CUL2_ENST00000374749.3_Nonsense_Mutation_p.R249*|CUL2_ENST00000602371.1_Nonsense_Mutation_p.R192*|CUL2_ENST00000374751.3_Nonsense_Mutation_p.R249*|CUL2_ENST00000374746.1_Nonsense_Mutation_p.R249*|CUL2_ENST00000537177.1_Nonsense_Mutation_p.R268*|CUL2_ENST00000374742.1_Nonsense_Mutation_p.R249*			Q13617	CUL2_HUMAN	cullin 2	249					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)	p.R249*(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TTTCGACATCGAATTTCTTCA	0.318																																					p.R249X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C745T	10						.						107.0	98.0	101.0					10																	35327980		2203	4295	6498	35367986	SO:0001587	stop_gained	8453	exon9			U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.745C>T	10.37:g.35327980G>A	ENSP00000363880:p.Arg249*	Somatic		Capture	SOLID	Phase_I	35367986	NM_001198777	B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Nonsense_Mutation	SNP	ENST00000374748.1	37	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	G	34	5.365693	0.95900	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	.	.	.	6.16	1.06	0.20224	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.0139	5.3528	0.16045	0.245:0.0:0.5318:0.2233	.	.	.	.	X	249;249;249;249;192;249;268	.	ENSP00000363874:R249X	R	-	1	2	CUL2	35367986	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.814000	0.48010	0.160000	0.19432	0.650000	0.86243	CGA		0.318	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591	
VSTM4	196740	hgsc.bcm.edu	37	10	50227796	50227796	+	Missense_Mutation	SNP	T	T	C	rs375569682		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:50227796T>C	ENST00000332853.4	-	8	885	c.862A>G	c.(862-864)Acc>Gcc	p.T288A	RP11-523O18.1_ENST00000422966.1_RNA	NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T288A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						TCGGCATAGGTTAAGTTTTCC	0.473																																					p.T288A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A862G	10						.	T	ALA/THR	1,4405	2.1+/-5.4	0,1,2202	75.0	72.0	73.0		862	5.9	1.0	10		73	0,8600		0,0,4300	no	missense	VSTM4	NM_001031746.3	58	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	288/321	50227796	1,13005	2203	4300	6503	49897802	SO:0001583	missense	196740	exon8			BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.862A>G	10.37:g.50227796T>C	ENSP00000331062:p.Thr288Ala	Somatic		Capture	SOLID	Phase_I	49897802	NM_001031746	B4DNI6|Q96MX7	Missense_Mutation	SNP	ENST00000332853.4	37	CCDS31198.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.220549	0.39201	2.27E-4	0.0	ENSG00000165633	ENST00000332853	T	0.12984	2.63	5.87	5.87	0.94306	.	0.054093	0.64402	D	0.000001	T	0.25044	0.0608	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.02404	-1.1164	10	0.87932	D	0	-34.2777	15.1469	0.72662	0.0:0.0:0.0:1.0	.	288	Q8IW00	VSTM4_HUMAN	A	288	ENSP00000331062:T288A	ENSP00000331062:T288A	T	-	1	0	VSTM4	49897802	1.000000	0.71417	1.000000	0.80357	0.213000	0.24496	6.694000	0.74587	2.371000	0.80710	0.533000	0.62120	ACC		0.473	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984	
PCDH15	65217	hgsc.bcm.edu	37	10	55582504	55582504	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:55582504G>T	ENST00000320301.6	-	33	5376	c.4982C>A	c.(4981-4983)tCa>tAa	p.S1661*	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.S1592*|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.S1638*|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.S1621*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.S1663*|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.S1658*|PCDH15_ENST00000395440.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1661					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.S1668L(1)|p.S1661*(1)|p.S1668*(1)|p.S1661L(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)				AAAGCAAAATGAAGAGTCTGA	0.413										HNSCC(58;0.16)																											p.S1592X												.	.	4	Substitution - Missense(2)|Substitution - Nonsense(2)	large_intestine(2)|skin(2)	c.C4775A	10						.						157.0	156.0	157.0					10																	55582504		2203	4300	6503	55252510	SO:0001587	stop_gained	65217	exon32			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.4982C>A	10.37:g.55582504G>T	ENSP00000322604:p.Ser1661*	Somatic		Capture	SOLID	Phase_I	55252510	NM_001142765	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Nonsense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	45	11.663026	0.99588	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	.	.	.	4.95	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.1821	0.20478	0.2363:0.0:0.7637:0.0	.	.	.	.	X	1621;1663;1638;1661;1658;1668;1592	.	ENSP00000322604:S1661X	S	-	2	0	PCDH15	55252510	0.026000	0.19158	0.906000	0.35671	0.770000	0.43624	2.161000	0.42358	2.292000	0.77174	0.655000	0.94253	TCA		0.413	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
PCDH15	65217	hgsc.bcm.edu	37	10	56106126	56106126	+	Splice_Site	SNP	G	G	A	rs145232643		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:56106126G>A	ENST00000320301.6	-	6	987	c.593C>T	c.(592-594)cCg>cTg	p.P198L	PCDH15_ENST00000395446.1_Splice_Site_p.P198L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Splice_Site_p.P198L|PCDH15_ENST00000373955.1_Splice_Site_p.P198L|PCDH15_ENST00000414778.1_Splice_Site_p.P203L|AC013737.1_ENST00000583830.1_RNA|PCDH15_ENST00000437009.1_Splice_Site_p.P198L|PCDH15_ENST00000373957.3_Splice_Site_p.P176L|PCDH15_ENST00000395433.1_Splice_Site_p.P176L|PCDH15_ENST00000395442.1_Splice_Site_p.P198L|PCDH15_ENST00000395445.1_Splice_Site_p.P198L|PCDH15_ENST00000395432.2_Splice_Site_p.P198L|PCDH15_ENST00000361849.3_Splice_Site_p.P198L|PCDH15_ENST00000373965.2_Splice_Site_p.P198L|PCDH15_ENST00000395430.1_Splice_Site_p.P198L|PCDH15_ENST00000395440.1_Splice_Site_p.P198L	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	198	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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.P203L(1)|p.P198L(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)				TTTACATACCGGATCATCTGG	0.308										HNSCC(58;0.16)																											p.P198L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C593T	10						.	G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	109.0	105.0	106.0		608,593,593,593,593,527,608,593,608,593,527,593	4.4	1.0	10	dbSNP_134	106	4,8596	3.7+/-12.6	0,4,4296	no	missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice	PCDH15	NM_001142763.1,NM_001142764.1,NM_001142765.1,NM_001142766.1,NM_001142767.1,NM_001142768.1,NM_001142769.1,NM_001142770.1,NM_001142771.1,NM_001142772.1,NM_001142773.1,NM_033056.3	98,98,98,98,98,98,98,98,98,98,98,98	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	203/1963,198/1958,198/1887,198/1953,198/1916,176/1936,203/1791,198/1540,203/1683,198/1678,176/1933,198/1956	56106126	4,13002	2203	4300	6503	55776132	SO:0001630	splice_region_variant	65217	exon6			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.594+1C>T	10.37:g.56106126G>A		Somatic		Capture	SOLID	Phase_I	55776132	NM_001142765	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.388648	0.42308	0.0	4.65E-4	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58210	2.15;2.15;2.15;2.15;2.15;2.15;2.15;0.35;2.15;2.15;2.15;2.15;2.15;2.15;2.15	5.35	4.43	0.53597	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.42017	0.1184	L	0.28115	0.83	0.47778	D	0.999516	B;P;P;P;B;B;B;B;P;P;B;B;B;B;P	0.45672	0.046;0.5;0.773;0.864;0.104;0.316;0.014;0.028;0.5;0.5;0.35;0.008;0.022;0.195;0.773	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.41723	0.021;0.179;0.365;0.365;0.072;0.052;0.021;0.045;0.243;0.243;0.179;0.014;0.016;0.072;0.365	T	0.43114	-0.9411	9	0.62326	D	0.03	.	13.3091	0.60370	0.0784:0.0:0.9216:0.0	.	176;198;198;203;198;198;198;198;198;198;198;203;198;176;198	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	L	198;203;198;198;198;198;198;198;198;198;176;176;198;198;203;198;198	ENSP00000363076:P198L;ENSP00000410304:P203L;ENSP00000378826:P198L;ENSP00000378832:P198L;ENSP00000378833:P198L;ENSP00000378829:P198L;ENSP00000378827:P198L;ENSP00000378820:P198L;ENSP00000354950:P198L;ENSP00000378821:P176L;ENSP00000363068:P176L;ENSP00000322604:P198L;ENSP00000378818:P198L;ENSP00000412628:P198L;ENSP00000363066:P198L	ENSP00000322604:P198L	P	-	2	0	PCDH15	55776132	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.906000	0.69900	1.249000	0.43950	0.650000	0.86243	CCG		0.308	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	Missense_Mutation
HKDC1	80201	hgsc.bcm.edu	37	10	70987032	70987032	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:70987032G>A	ENST00000354624.5	+	2	266	c.133G>A	c.(133-135)Gct>Act	p.A45T	HKDC1_ENST00000395086.2_Missense_Mutation_p.A45T|RP11-227H15.4_ENST00000450995.1_RNA	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	45	Hexokinase type-1 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)	p.A45T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GCGGTTCCGGGCTGAGATGGA	0.597																																					p.A45T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G133A	10						.						128.0	111.0	117.0					10																	70987032		2203	4300	6503	70657038	SO:0001583	missense	80201	exon2				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.133G>A	10.37:g.70987032G>A	ENSP00000346643:p.Ala45Thr	Somatic		Capture	SOLID	Phase_I	70657038	NM_025130	B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	G	8.974	0.973686	0.18736	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.98207	-4.79;-4.79	4.91	4.01	0.46588	Hexokinase, N-terminal (1);	0.432886	0.27185	N	0.020539	D	0.93776	0.8010	N	0.25957	0.775	0.33386	D	0.575479	B	0.27351	0.176	B	0.21360	0.034	D	0.92633	0.6118	10	0.30854	T	0.27	-1.8574	5.964	0.19315	0.1572:0.0:0.6887:0.1541	.	45	Q2TB90	HKDC1_HUMAN	T	45	ENSP00000346643:A45T;ENSP00000378521:A45T	ENSP00000346643:A45T	A	+	1	0	HKDC1	70657038	0.990000	0.36364	0.879000	0.34478	0.026000	0.11368	2.148000	0.42235	1.434000	0.47414	-0.136000	0.14681	GCT		0.597	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130	
PPP3CB	5532	hgsc.bcm.edu	37	10	75230674	75230674	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:75230674A>C	ENST00000360663.5	-	7	969	c.858T>G	c.(856-858)atT>atG	p.I286M	PPP3CB_ENST00000394829.2_Missense_Mutation_p.I286M|PPP3CB_ENST00000495897.1_5'UTR|PPP3CB_ENST00000342558.3_Missense_Mutation_p.I286M|PPP3CB_ENST00000394828.2_Missense_Mutation_p.I286M|PPP3CB_ENST00000394822.2_Missense_Mutation_p.I304M|PPP3CB_ENST00000545874.1_Missense_Mutation_p.I200M			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	286	Catalytic.				axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)	p.I286M(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					GAGCTCTAATAATCGATAACA	0.333																																					p.I286M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T858G	10						.						48.0	50.0	49.0					10																	75230674		2202	4299	6501	74900680	SO:0001583	missense	5532	exon7			M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9315	protein-coding gene	gene with protein product	"""calcineurin A beta"", ""protein phosphatase 2B, catalytic subunit, beta isoform"""	114106	"""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"""	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.858T>G	10.37:g.75230674A>C	ENSP00000353881:p.Ile286Met	Somatic		Capture	SOLID	Phase_I	74900680	NM_001142354	P16299|Q5F2F9|Q8N1F0|Q8N3W4	Missense_Mutation	SNP	ENST00000360663.5	37	CCDS7328.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.405530	0.25378	.	.	ENSG00000107758	ENST00000360663;ENST00000394829;ENST00000394828;ENST00000342558;ENST00000545874;ENST00000394822	D;D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34;-2.34	5.57	4.37	0.52481	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.87565	0.6209	M	0.84585	2.705	0.51233	D	0.999915	P;B;D;B;P	0.56035	0.506;0.216;0.974;0.224;0.715	B;B;P;B;P	0.46917	0.348;0.176;0.513;0.255;0.531	D	0.87736	0.2582	10	0.62326	D	0.03	.	4.1023	0.10018	0.6848:0.0:0.1538:0.1615	.	304;200;286;286;286	P16298-2;F5H0F8;P16298-3;Q8N1F0;P16298	.;.;.;.;PP2BB_HUMAN	M	286;286;286;286;200;304	ENSP00000353881:I286M;ENSP00000378306:I286M;ENSP00000378305:I286M;ENSP00000343147:I286M;ENSP00000439876:I200M;ENSP00000378299:I304M	ENSP00000343147:I286M	I	-	3	3	PPP3CB	74900680	0.926000	0.31397	1.000000	0.80357	0.998000	0.95712	0.097000	0.15168	2.119000	0.64992	0.460000	0.39030	ATT		0.333	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048669.1	NM_021132	
KAT6B	23522	hgsc.bcm.edu	37	10	76781790	76781790	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:76781790G>C	ENST00000287239.4	+	16	3662	c.3173G>C	c.(3172-3174)cGa>cCa	p.R1058P	KAT6B_ENST00000372711.1_Missense_Mutation_p.R875P|RP11-77G23.5_ENST00000436608.1_RNA|KAT6B_ENST00000372725.1_Missense_Mutation_p.R766P|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372714.1_Missense_Mutation_p.R766P|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372724.1_Missense_Mutation_p.R766P	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1058					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R1058P(1)									ACAGGGGAGCGAGGGCAGCTG	0.502											OREG0020273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R1058P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3173C	10						.						29.0	31.0	31.0					10																	76781790		2203	4300	6503	76451796	SO:0001583	missense	23522	exon16			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3173G>C	10.37:g.76781790G>C	ENSP00000287239:p.Arg1058Pro	Somatic	1170	Capture	SOLID	Phase_I	76451796	NM_012330	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.203589	0.38905	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.77358	2.17;2.17;0.07;2.17;-1.09	6.08	6.08	0.98989	.	0.177541	0.27227	N	0.020331	T	0.78426	0.4281	L	0.34521	1.04	0.42929	D	0.994312	P;D;D	0.71674	0.943;0.983;0.998	P;P;P	0.55824	0.593;0.785;0.754	T	0.79729	-0.1681	10	0.66056	D	0.02	-7.3165	13.0695	0.59053	0.0733:0.0:0.9267:0.0	.	875;766;1058	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	P	766;766;1058;766;875	ENSP00000361810:R766P;ENSP00000361809:R766P;ENSP00000287239:R1058P;ENSP00000361799:R766P;ENSP00000361796:R875P	ENSP00000287239:R1058P	R	+	2	0	KAT6B	76451796	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.479000	0.53165	2.890000	0.99128	0.655000	0.94253	CGA		0.502	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330	
C10orf11	83938	hgsc.bcm.edu	37	10	78316990	78316990	+	Missense_Mutation	SNP	G	G	A	rs567691214		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:78316990G>A	ENST00000372499.1	+	6	756	c.541G>A	c.(541-543)Gtt>Att	p.V181I	RP11-325D15.2_ENST00000597938.1_RNA|C10orf11_ENST00000593699.1_3'UTR|C10orf11_ENST00000496424.2_Missense_Mutation_p.V38I	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	181					melanocyte differentiation (GO:0030318)			p.V181I(1)		endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					GTGTCGCTACGTTTACTATGG	0.443																																					p.V181I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G541A	10						.						133.0	117.0	123.0					10																	78316990		2203	4300	6503	77986996	SO:0001583	missense	83938	exon6			AF267860	CCDS7351.1	10q22.3	2013-08-22			ENSG00000148655	ENSG00000148655			23405	protein-coding gene	gene with protein product	"""oculocutaneous albinism 7, autosomal recessive"""	614537				23395477	Standard	NM_032024		Approved	CDA017, OCA7	uc001jxi.3	Q9H2I8	OTTHUMG00000018532	ENST00000372499.1:c.541G>A	10.37:g.78316990G>A	ENSP00000361577:p.Val181Ile	Somatic		Capture	SOLID	Phase_I	77986996	NM_032024	B1AVW6	Missense_Mutation	SNP	ENST00000372499.1	37	CCDS7351.1	.	.	.	.	.	.	.	.	.	.	G	4.778	0.144736	0.09134	.	.	ENSG00000148655	ENST00000354343;ENST00000372499	T	0.45668	0.89	6.02	-2.33	0.06724	.	0.464389	0.22223	N	0.062937	T	0.24275	0.0588	L	0.41124	1.26	0.22366	N	0.999162	B	0.20550	0.046	B	0.19148	0.024	T	0.36237	-0.9756	10	0.07644	T	0.81	-15.8718	8.2914	0.31960	0.4425:0.0:0.458:0.0995	.	181	Q9H2I8	CJ011_HUMAN	I	209;181	ENSP00000361577:V181I	ENSP00000346310:V209I	V	+	1	0	C10orf11	77986996	0.008000	0.16893	0.850000	0.33497	0.874000	0.50279	-0.279000	0.08479	-0.691000	0.05135	-1.021000	0.02439	GTT		0.443	C10orf11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048839.1	NM_032024	
KCNMA1	3778	hgsc.bcm.edu	37	10	78832990	78832990	+	Silent	SNP	C	C	T	rs368568833	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:78832990C>T	ENST00000286628.8	-	14	1613	c.1614G>A	c.(1612-1614)ccG>ccA	p.P538P	KCNMA1_ENST00000406533.3_Silent_p.P538P|KCNMA1_ENST00000372443.1_Silent_p.P538P|KCNMA1_ENST00000404771.3_Silent_p.P538P|KCNMA1_ENST00000372440.1_Silent_p.P538P|KCNMA1_ENST00000484507.1_5'UTR|KCNMA1_ENST00000404857.1_Silent_p.P538P|KCNMA1_ENST00000286627.5_Silent_p.P538P|KCNMA1_ENST00000354353.5_Silent_p.P538P	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	538	RCK N-terminal.				blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.P538P(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	AATTCCAGCTCGGGATGTTTA	0.488													C|||	3	0.000599042	0.0	0.0	5008	,	,		21657	0.003		0.0	False		,,,				2504	0.0				p.P538P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1614A	10						.						95.0	83.0	87.0					10																	78832990		2203	4300	6503	78502996	SO:0001819	synonymous_variant	3778	exon14			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.1614G>A	10.37:g.78832990C>T		Somatic		Capture	SOLID	Phase_I	78502996	NM_002247	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Silent	SNP	ENST00000286628.8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.916|6.916	0.538698|0.538698	0.13250|0.13250	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208;ENST00000450795|ENST00000372403;ENST00000428546	.|.	.|.	.|.	5.87|5.87	-6.88|-6.88	0.01665|0.01665	.|.	.|.	.|.	.|.	.|.	T|T	0.46308|0.46308	0.1386|0.1386	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.51220|0.51220	-0.8733|-0.8733	4|4	.|.	.|.	.|.	-11.0132|-11.0132	6.3864|6.3864	0.21563|0.21563	0.0905:0.0924:0.188:0.6291|0.0905:0.0924:0.188:0.6291	.|.	.|.	.|.	.|.	K|Q	527;217;31|489;22	.|.	.|.	E|R	-|-	1|2	0|0	KCNMA1|KCNMA1	78502996|78502996	0.000000|0.000000	0.05858|0.05858	0.962000|0.962000	0.40283|0.40283	0.995000|0.995000	0.86356|0.86356	-2.085000|-2.085000	0.01362|0.01362	-0.782000|-0.782000	0.04541|0.04541	-0.136000|-0.136000	0.14681|0.14681	GAG|CGA		0.488	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247	
KCNMA1	3778	hgsc.bcm.edu	37	10	78844406	78844406	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:78844406C>T	ENST00000286628.8	-	12	1511	c.1512G>A	c.(1510-1512)tcG>tcA	p.S504S	KCNMA1_ENST00000406533.3_Silent_p.S504S|KCNMA1_ENST00000372443.1_Silent_p.S504S|KCNMA1_ENST00000404771.3_Silent_p.S504S|KCNMA1_ENST00000372440.1_Silent_p.S504S|KCNMA1_ENST00000484507.1_5'UTR|KCNMA1_ENST00000404857.1_Silent_p.S504S|KCNMA1_ENST00000286627.5_Silent_p.S504S|KCNMA1_ENST00000354353.5_Silent_p.S504S	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	504	RCK N-terminal.				blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.S504S(3)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TCATGATATTCGAGGCATCCT	0.532																																					p.S504S												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.G1512A	10						.						76.0	66.0	70.0					10																	78844406		2203	4300	6503	78514412	SO:0001819	synonymous_variant	3778	exon12			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.1512G>A	10.37:g.78844406C>T		Somatic		Capture	SOLID	Phase_I	78514412	NM_002247	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Silent	SNP	ENST00000286628.8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.134|9.134	1.012257|1.012257	0.19277|0.19277	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208|ENST00000372403	.|.	.|.	.|.	5.69|5.69	1.8|1.8	0.24995|0.24995	.|.	.|.	.|.	.|.	.|.	T|T	0.45256|0.45256	0.1333|0.1333	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.24119|0.24119	-1.0169|-1.0169	4|4	.|.	.|.	.|.	-13.5492|-13.5492	2.7644|2.7644	0.05316|0.05316	0.2024:0.1307:0.5408:0.1261|0.2024:0.1307:0.5408:0.1261	.|.	.|.	.|.	.|.	K|Q	493;183|455	.|.	.|.	E|R	-|-	1|2	0|0	KCNMA1|KCNMA1	78514412|78514412	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.908000|0.908000	0.53690|0.53690	2.360000|2.360000	0.44151|0.44151	0.081000|0.081000	0.16988|0.16988	-1.356000|-1.356000	0.01223|0.01223	GAA|CGA		0.532	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247	
NRG3	10718	hgsc.bcm.edu	37	10	84118623	84118623	+	Splice_Site	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:84118623C>T	ENST00000404547.1	+	2	952	c.952C>T	c.(952-954)Cgg>Tgg	p.R318W	NRG3_ENST00000556918.1_Splice_Site_p.R148W|NRG3_ENST00000372141.2_Splice_Site_p.R318W|NRG3_ENST00000404576.2_Splice_Site_p.R122W|NRG3_ENST00000372142.2_Splice_Site_p.R97W			P56975	NRG3_HUMAN	neuregulin 3	318	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.R318W(1)|p.R97W(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TAAACACTGTCGGTAAGCCAC	0.557																																					p.R318W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C952T	10						.						102.0	82.0	89.0					10																	84118623		2203	4300	6503	84108603	SO:0001630	splice_region_variant	10718	exon2			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.953+1C>T	10.37:g.84118623C>T		Somatic		Capture	SOLID	Phase_I	84108603	NM_001165972	A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232479	0.79688	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.72	4.81	0.61882	.	0.000000	0.52532	D	0.000068	T	0.61887	0.2383	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.995;0.989	T	0.67776	-0.5583	10	0.87932	D	0	-29.4792	13.8298	0.63373	0.1542:0.8458:0.0:0.0	.	318;97;318	B9EGV5;P56975-3;P56975-4	.;.;.	W	318;318;318;97;122;148	ENSP00000361214:R318W;ENSP00000384796:R318W;ENSP00000361215:R97W;ENSP00000385804:R122W;ENSP00000451376:R148W	ENSP00000361214:R318W	R	+	1	2	NRG3	84108603	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.761000	0.62243	1.405000	0.46838	0.655000	0.94253	CGG		0.557	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086	Missense_Mutation
GRID1	2894	hgsc.bcm.edu	37	10	87379785	87379785	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:87379785C>A	ENST00000327946.7	-	14	2284	c.2199G>T	c.(2197-2199)aaG>aaT	p.K733N	GRID1_ENST00000536331.1_Missense_Mutation_p.K304N	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	733					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.K733N(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						AGTTCCCCTTCTTTGCCTGAA	0.542										Multiple Myeloma(13;0.14)																											p.K733N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2199T	10						.						96.0	71.0	79.0					10																	87379785		2203	4300	6503	87369765	SO:0001583	missense	2894	exon14			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.2199G>T	10.37:g.87379785C>A	ENSP00000330148:p.Lys733Asn	Somatic		Capture	SOLID	Phase_I	87369765	NM_017551	B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660723	0.67700	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.25250	1.81;1.81	5.28	5.28	0.74379	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.29093	0.0723	M	0.68317	2.08	0.80722	D	1	P	0.38992	0.653	B	0.38842	0.283	T	0.05305	-1.0893	10	0.46703	T	0.11	.	11.3963	0.49843	0.0:0.9173:0.0:0.0827	.	733	Q9ULK0	GRID1_HUMAN	N	733;304	ENSP00000330148:K733N;ENSP00000444455:K304N	ENSP00000330148:K733N	K	-	3	2	GRID1	87369765	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.695000	0.47043	2.454000	0.82982	0.561000	0.74099	AAG		0.542	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613	
GRID1	2894	hgsc.bcm.edu	37	10	87484364	87484364	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:87484364G>A	ENST00000327946.7	-	11	1688	c.1603C>T	c.(1603-1605)Cgg>Tgg	p.R535W	GRID1_ENST00000536331.1_Missense_Mutation_p.R106W	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	535					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.R535W(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						TCCATGTACCGCTTGCTGAAG	0.507										Multiple Myeloma(13;0.14)																											p.R535W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1603T	10						.						78.0	74.0	76.0					10																	87484364		2203	4300	6503	87474344	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.1603C>T	10.37:g.87484364G>A	ENSP00000330148:p.Arg535Trp	Somatic		Capture	SOLID	Phase_I	87474344	NM_017551	B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	32	5.147142	0.94603	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.27557	1.66;1.66	5.83	5.83	0.93111	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.56001	0.1956	L	0.61387	1.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54951	-0.8216	10	0.72032	D	0.01	.	19.0851	0.93200	0.0:0.0:1.0:0.0	.	535	Q9ULK0	GRID1_HUMAN	W	535;106	ENSP00000330148:R535W;ENSP00000444455:R106W	ENSP00000330148:R535W	R	-	1	2	GRID1	87474344	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.777000	0.99008	2.741000	0.93983	0.650000	0.86243	CGG		0.507	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613	
SLC16A12	387700	hgsc.bcm.edu	37	10	91198619	91198619	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:91198619G>T	ENST00000341233.4	-	6	1070	c.680C>A	c.(679-681)tCt>tAt	p.S227Y	SLC16A12_ENST00000371790.4_Missense_Mutation_p.S257Y	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.S227Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						TTTGGTCAAAGATGAATAGGG	0.443																																					p.S257Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C770A	10						.						121.0	108.0	112.0					10																	91198619		2203	4300	6503	91188599	SO:0001583	missense	387700	exon6				CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"""Solute carriers"""	23094	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 12"""	611910	"""solute carrier family 16 (monocarboxylic acid transporters), member 12"", ""solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"""				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.680C>A	10.37:g.91198619G>T	ENSP00000343022:p.Ser227Tyr	Somatic		Capture	SOLID	Phase_I	91188599	NM_213606	Q5M9M9|Q5T7J2|Q6ZV76	Missense_Mutation	SNP	ENST00000341233.4	37		.	.	.	.	.	.	.	.	.	.	G	12.80	2.045588	0.36085	.	.	ENSG00000152779	ENST00000341233;ENST00000371790;ENST00000544887	T;T	0.58060	0.36;0.36	5.87	4.92	0.64577	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.498020	0.03076	N	0.157898	T	0.51856	0.1699	L	0.27053	0.805	0.26601	N	0.973025	B	0.27971	0.196	B	0.34452	0.183	T	0.52177	-0.8610	10	0.49607	T	0.09	.	14.8484	0.70277	0.0:0.0:0.8265:0.1735	.	227	Q6ZSM3	MOT12_HUMAN	Y	227;257;34	ENSP00000343022:S227Y;ENSP00000360855:S257Y	ENSP00000343022:S227Y	S	-	2	0	SLC16A12	91188599	0.991000	0.36638	0.462000	0.27118	0.650000	0.38633	4.635000	0.61332	1.449000	0.47699	0.655000	0.94253	TCT		0.443	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_213606	
LGI1	9211	hgsc.bcm.edu	37	10	95557042	95557042	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:95557042G>T	ENST00000371418.4	+	8	1416	c.1156G>T	c.(1156-1158)Gaa>Taa	p.E386*	LGI1_ENST00000542308.1_Nonsense_Mutation_p.E338*|LGI1_ENST00000371413.3_Intron	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	386					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)	p.E386*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GGAATATCTAGAAATAGTCAG	0.413																																					p.E386X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1156T	10						.						96.0	85.0	89.0					10																	95557042		2203	4300	6503	95547032	SO:0001587	stop_gained	9211	exon8			AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.1156G>T	10.37:g.95557042G>T	ENSP00000360472:p.Glu386*	Somatic		Capture	SOLID	Phase_I	95547032	NM_005097	A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Nonsense_Mutation	SNP	ENST00000371418.4	37	CCDS7431.1	.	.	.	.	.	.	.	.	.	.	G	38	6.780580	0.97833	.	.	ENSG00000108231	ENST00000542308;ENST00000371418	.	.	.	4.93	4.93	0.64822	.	0.049114	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-15.0654	18.3504	0.90336	0.0:0.0:1.0:0.0	.	.	.	.	X	338;386	.	ENSP00000360472:E386X	E	+	1	0	LGI1	95547032	1.000000	0.71417	0.997000	0.53966	0.907000	0.53573	9.657000	0.98554	2.567000	0.86603	0.655000	0.94253	GAA		0.413	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097	
C10orf12	26148	hgsc.bcm.edu	37	10	98742581	98742581	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:98742581G>A	ENST00000286067.2	+	1	1541	c.1434G>A	c.(1432-1434)acG>acA	p.T478T		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	478								p.T478T(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AAAAAGACACGTATGATACAA	0.418																																					p.T478T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1434A	10						.						89.0	95.0	93.0					10																	98742581		2203	4300	6503	98732571	SO:0001819	synonymous_variant	26148	exon1			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.1434G>A	10.37:g.98742581G>A		Somatic		Capture	SOLID	Phase_I	98732571	NM_015652	Q9H945|Q9Y457	Silent	SNP	ENST00000286067.2	37	CCDS7452.1																																																																																				0.418	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652	
KNDC1	85442	hgsc.bcm.edu	37	10	135020234	135020234	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:135020234A>G	ENST00000304613.3	+	18	3454	c.3433A>G	c.(3433-3435)Acc>Gcc	p.T1145A	KNDC1_ENST00000368571.2_Missense_Mutation_p.T1080A|KNDC1_ENST00000368572.2_Missense_Mutation_p.T1147A			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1145					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.T1145A(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTACCGCAAGACCCTGAAGTT	0.577																																					p.T1145A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3433G	10						.						99.0	109.0	105.0					10																	135020234		2203	4300	6503	134870224	SO:0001583	missense	85442	exon18			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3433A>G	10.37:g.135020234A>G	ENSP00000304437:p.Thr1145Ala	Somatic		Capture	SOLID	Phase_I	134870224	NM_152643	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	A	10.69	1.422560	0.25639	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.21543	2.0;2.0;2.0	4.59	3.44	0.39384	.	0.000000	0.64402	U	0.000001	T	0.36880	0.0983	M	0.64997	1.995	0.46542	D	0.999096	P;P	0.50156	0.932;0.533	P;B	0.61592	0.891;0.123	T	0.07751	-1.0756	10	0.87932	D	0	-21.4033	8.5312	0.33335	0.9037:0.0:0.0963:0.0	.	1080;1145	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	A	1145;1147;1080	ENSP00000304437:T1145A;ENSP00000357561:T1147A;ENSP00000357560:T1080A	ENSP00000304437:T1145A	T	+	1	0	KNDC1	134870224	1.000000	0.71417	0.818000	0.32626	0.266000	0.26442	4.619000	0.61218	0.710000	0.31997	0.439000	0.28862	ACC		0.577	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643	
FBXL17	64839	hgsc.bcm.edu	37	5	107197434	107197434	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:107197434G>A	ENST00000542267.1	-	9	2499	c.2093C>T	c.(2092-2094)gCc>gTc	p.A698V	FBXL17_ENST00000359660.5_Missense_Mutation_p.A300V	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	698								p.A300V(1)		endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		GGAGGAGGCGGCAGACATGTT	0.577																																					p.A698V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2093T	5						.						105.0	80.0	88.0					5																	107197434		2202	4300	6502	107225333	SO:0001583	missense	64839	exon9			AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"""F-boxes / Leucine-rich repeats"""	13615	protein-coding gene	gene with protein product		609083	"""F-box only protein 13"""	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.2093C>T	5.37:g.107197434G>A	ENSP00000437464:p.Ala698Val	Somatic		Capture	SOLID	Phase_I	107225333	NM_001163315	A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	37	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014962	0.75161	.	.	ENSG00000145743	ENST00000359660;ENST00000542267	T;T	0.11169	2.8;2.8	5.59	4.64	0.57946	.	25.003200	0.00166	N	0.000000	T	0.09468	0.0233	N	0.08118	0	0.09310	N	1	B	0.20887	0.049	B	0.22386	0.039	T	0.37407	-0.9707	10	0.15499	T	0.54	.	17.1884	0.86872	0.0:0.0:0.8653:0.1347	.	698	Q9UF56	FXL17_HUMAN	V	300;698	ENSP00000352683:A300V;ENSP00000437464:A698V	ENSP00000352683:A300V	A	-	2	0	FBXL17	107225333	0.998000	0.40836	0.724000	0.30704	0.823000	0.46562	5.087000	0.64480	2.639000	0.89480	0.585000	0.79938	GCC		0.577	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
APC	324	hgsc.bcm.edu	37	5	112162891	112162891	+	Nonsense_Mutation	SNP	C	C	T	rs137854580		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:112162891C>T	ENST00000457016.1	+	12	1875	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	APC_ENST00000257430.4_Nonsense_Mutation_p.R499*|CTC-554D6.1_ENST00000520401.1_5'Flank|APC_ENST00000508376.2_Nonsense_Mutation_p.R499*			P25054	APC_HUMAN	adenomatous polyposis coli	499	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R499*(5)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TACACTAAGACGATATGCTGG	0.373		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.R499X	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	APC,large_intestine,colon,Substitution - Nonsense,0	.	6	Substitution - Nonsense(5)|Unknown(1)	large_intestine(5)|skin(1)	c.C1495T	5	GRCh37	CM930023	APC	M	rs137854580	.						135.0	123.0	127.0					5																	112162891		2202	4300	6502	112190790	SO:0001587	stop_gained	324	exon12	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1495C>T	5.37:g.112162891C>T	ENSP00000413133:p.Arg499*	Somatic		Capture	SOLID	Phase_I	112190790	NM_000038	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	40	8.025077	0.98616	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.85	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3767	14.9298	0.70906	0.2732:0.7267:0.0:0.0	.	.	.	.	X	499;481;499;499;499	.	ENSP00000257430:R499X	R	+	1	2	APC	112190790	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.513000	0.35823	1.461000	0.47929	0.655000	0.94253	CGA		0.373	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112170822	112170822	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:112170822C>T	ENST00000457016.1	+	15	2298	c.1918C>T	c.(1918-1920)Cgg>Tgg	p.R640W	APC_ENST00000257430.4_Missense_Mutation_p.R640W|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.R640W			P25054	APC_HUMAN	adenomatous polyposis coli	640	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R640W(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGGGATATTACGGAATGTGTC	0.383		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.R640W	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|skin(1)	c.C1918T	5	GRCh37	CS090535	APC	S		.						118.0	101.0	106.0					5																	112170822		2202	4300	6502	112198721	SO:0001583	missense	324	exon15	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1918C>T	5.37:g.112170822C>T	ENSP00000413133:p.Arg640Trp	Somatic		Capture	SOLID	Phase_I	112198721	NM_000038	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215123	0.79352	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.49	4.59	0.56863	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82742	0.5103	M	0.85299	2.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85544	0.1217	10	0.87932	D	0	-10.6084	14.4514	0.67386	0.2639:0.7361:0.0:0.0	.	642;640	Q4LE70;P25054	.;APC_HUMAN	W	640;622;640;640;640	ENSP00000413133:R640W;ENSP00000423224:R622W;ENSP00000257430:R640W;ENSP00000427089:R640W;ENSP00000423828:R640W	ENSP00000257430:R640W	R	+	1	2	APC	112198721	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.225000	0.42954	2.583000	0.87209	0.655000	0.94253	CGG		0.383	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175639	112175639	+	Nonsense_Mutation	SNP	C	C	T	rs121913332		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:112175639C>T	ENST00000457016.1	+	16	4728	c.4348C>T	c.(4348-4350)Cga>Tga	p.R1450*	APC_ENST00000257430.4_Nonsense_Mutation_p.R1450*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.R1450*			P25054	APC_HUMAN	adenomatous polyposis coli	1450	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R1450*(153)|p.?(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.R1450fs*22(1)|p.S1436fs*22(1)|p.R1450fs*5(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCAAACCAAGCGAGAAGTACC	0.478	R1450*(LS123_LARGE_INTESTINE)|R1450*(MKN74_STOMACH)|R1450*(SW1417_LARGE_INTESTINE)|R1450*(SW837_LARGE_INTESTINE)	12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.R1450X	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	APC,large_intestine,rectum,Substitution - Nonsense,0	.	159	Substitution - Nonsense(153)|Deletion - Frameshift(4)|Unknown(1)|Insertion - Frameshift(1)	large_intestine(136)|stomach(13)|soft_tissue(4)|small_intestine(3)|endometrium(1)|skin(1)|pancreas(1)	c.C4348T	5	GRCh37	CM930030	APC	M	rs121913332	.						102.0	90.0	94.0					5																	112175639		2202	4300	6502	112203538	SO:0001587	stop_gained	324	exon16	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4348C>T	5.37:g.112175639C>T	ENSP00000413133:p.Arg1450*	Somatic		Capture	SOLID	Phase_I	112203538	NM_000038	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	41	8.651223	0.98901	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.17	4.2	0.49525	.	0.600559	0.18052	N	0.153248	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.0649	14.037	0.64651	0.426:0.574:0.0:0.0	.	.	.	.	X	1450	.	.	R	+	1	2	APC	112203538	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.171000	0.50824	1.564000	0.49628	0.655000	0.94253	CGA		0.478	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112178223	112178223	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:112178223G>T	ENST00000457016.1	+	16	7312	c.6932G>T	c.(6931-6933)aGa>aTa	p.R2311I	APC_ENST00000257430.4_Missense_Mutation_p.R2311I|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.R2311I			P25054	APC_HUMAN	adenomatous polyposis coli	2311	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R2311I(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ACCCCTTCAAGACCTGCCCAG	0.448		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.R2311I	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|skin(1)	c.G6932T	5						.						64.0	58.0	60.0					5																	112178223		2202	4299	6501	112206122	SO:0001583	missense	324	exon16	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.6932G>T	5.37:g.112178223G>T	ENSP00000413133:p.Arg2311Ile	Somatic		Capture	SOLID	Phase_I	112206122	NM_000038	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.505288	0.64410	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.84442	-1.85;-1.85;-1.85	5.92	5.05	0.67936	Adenomatous polyposis coli protein basic domain (1);	0.040721	0.85682	D	0.000000	D	0.90383	0.6990	L	0.56769	1.78	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.89894	0.4039	9	.	.	.	-12.2861	15.0236	0.71650	0.0681:0.0:0.9319:0.0	.	2313;2311	Q4LE70;P25054	.;APC_HUMAN	I	2311	ENSP00000413133:R2311I;ENSP00000257430:R2311I;ENSP00000427089:R2311I	.	R	+	2	0	APC	112206122	1.000000	0.71417	0.954000	0.39281	0.978000	0.69477	8.129000	0.89597	1.508000	0.48769	0.650000	0.86243	AGA		0.448	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112178304	112178304	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:112178304C>A	ENST00000457016.1	+	16	7393	c.7013C>A	c.(7012-7014)cCt>cAt	p.P2338H	APC_ENST00000257430.4_Missense_Mutation_p.P2338H|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.P2338H			P25054	APC_HUMAN	adenomatous polyposis coli	2338	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.P2338H(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGAATAAGTCCTCCTAACAAA	0.438		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.P2338H	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|skin(1)	c.C7013A	5						.						71.0	68.0	69.0					5																	112178304		2202	4299	6501	112206203	SO:0001583	missense	324	exon16	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.7013C>A	5.37:g.112178304C>A	ENSP00000413133:p.Pro2338His	Somatic		Capture	SOLID	Phase_I	112206203	NM_000038	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875157	0.51695	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.84873	-1.91;-1.91;-1.91	5.63	5.63	0.86233	Adenomatous polyposis coli protein basic domain (1);	0.056620	0.64402	D	0.000001	D	0.89901	0.6849	L	0.51422	1.61	0.51233	D	0.999914	B;D	0.63880	0.015;0.993	B;D	0.63597	0.028;0.916	D	0.88302	0.2950	9	.	.	.	-9.4047	19.6959	0.96026	0.0:1.0:0.0:0.0	.	2340;2338	Q4LE70;P25054	.;APC_HUMAN	H	2338	ENSP00000413133:P2338H;ENSP00000257430:P2338H;ENSP00000427089:P2338H	.	P	+	2	0	APC	112206203	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.054000	0.71096	2.659000	0.90383	0.650000	0.86243	CCT		0.438	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112178682	112178682	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:112178682C>A	ENST00000457016.1	+	16	7771	c.7391C>A	c.(7390-7392)tCt>tAt	p.S2464Y	APC_ENST00000257430.4_Missense_Mutation_p.S2464Y|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.S2464Y			P25054	APC_HUMAN	adenomatous polyposis coli	2464	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.S2464Y(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCATTTGAATCTCTTTCTCCA	0.433		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.S2464Y	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|skin(1)	c.C7391A	5						.						84.0	83.0	84.0					5																	112178682		2202	4299	6501	112206581	SO:0001583	missense	324	exon16	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.7391C>A	5.37:g.112178682C>A	ENSP00000413133:p.Ser2464Tyr	Somatic		Capture	SOLID	Phase_I	112206581	NM_000038	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.498927	0.44455	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.89552	-2.53;-2.53;-2.53	6.06	6.06	0.98353	Adenomatous polyposis coli protein basic domain (1);	0.284452	0.40728	N	0.001038	D	0.93612	0.7960	L	0.59436	1.845	0.49483	D	0.999793	D;D	0.71674	0.998;0.998	D;D	0.78314	0.991;0.991	D	0.91869	0.5506	9	.	.	.	-14.4616	20.6208	0.99490	0.0:1.0:0.0:0.0	.	2466;2464	Q4LE70;P25054	.;APC_HUMAN	Y	2464	ENSP00000413133:S2464Y;ENSP00000257430:S2464Y;ENSP00000427089:S2464Y	.	S	+	2	0	APC	112206581	1.000000	0.71417	0.999000	0.59377	0.789000	0.44602	6.949000	0.75971	2.882000	0.98803	0.655000	0.94253	TCT		0.433	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
LVRN	206338	hgsc.bcm.edu	37	5	115335545	115335545	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:115335545A>C	ENST00000357872.4	+	7	1585	c.1461A>C	c.(1459-1461)gaA>gaC	p.E487D	AQPEP_ENST00000395528.2_Missense_Mutation_p.E4D	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		487						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E487D(1)									TGAAGGTGGAAAATTTCAAAA	0.348																																					p.E487D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1461C	5						.						89.0	88.0	88.0					5																	115335545		2202	4300	6502	115363444	SO:0001583	missense	206338	exon7																														ENST00000357872.4:c.1461A>C	5.37:g.115335545A>C	ENSP00000350541:p.Glu487Asp	Somatic		Capture	SOLID	Phase_I	115363444	NM_173800	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	A	8.994	0.978380	0.18812	.	.	ENSG00000172901	ENST00000395528;ENST00000357872;ENST00000379578	T;T	0.07021	3.23;4.17	5.77	3.38	0.38709	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.362200	0.26598	N	0.023500	T	0.07234	0.0183	L	0.37897	1.145	0.35256	D	0.779166	B	0.10296	0.003	B	0.19391	0.025	T	0.17776	-1.0358	10	0.37606	T	0.19	.	7.5085	0.27560	0.759:0.0:0.241:0.0	.	487	Q6Q4G3	AMPQ_HUMAN	D	4;487;476	ENSP00000378899:E4D;ENSP00000350541:E487D	ENSP00000350541:E487D	E	+	3	2	AC010282.1	115363444	1.000000	0.71417	0.998000	0.56505	0.373000	0.29922	1.628000	0.37060	0.532000	0.28657	0.533000	0.62120	GAA		0.348	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1		
ZNF474	133923	hgsc.bcm.edu	37	5	121487969	121487969	+	Missense_Mutation	SNP	G	G	A	rs72786994	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:121487969G>A	ENST00000296600.4	+	2	667	c.284G>A	c.(283-285)cGg>cAg	p.R95Q	CTC-441N14.1_ENST00000505209.1_RNA|ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	95							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		CCTGGATTCCGGGTATGCTAT	0.502													G|||	52	0.0103834	0.0008	0.0086	5008	,	,		17148	0.0		0.0179	False		,,,				2504	0.0276				p.R95Q												.	.	0			c.G284A	5						.	G	GLN/ARG	15,4391	23.3+/-48.9	0,15,2188	74.0	81.0	79.0		284	-1.7	0.1	5	dbSNP_130	79	171,8429	78.6+/-141.3	1,169,4130	yes	missense	ZNF474	NM_207317.1	43	1,184,6318	AA,AG,GG		1.9884,0.3404,1.4301	probably-damaging	95/365	121487969	186,12820	2203	4300	6503	121515868	SO:0001583	missense	133923	exon2			AK057483	CCDS4130.1	5q23.2	2008-02-05			ENSG00000164185	ENSG00000164185		"""Zinc fingers, C2H2-type"""	23245	protein-coding gene	gene with protein product							Standard	NM_207317		Approved	4933409D10Rik, FLJ32921	uc003ksv.3	Q6S9Z5	OTTHUMG00000128911	ENST00000296600.4:c.284G>A	5.37:g.121487969G>A	ENSP00000296600:p.Arg95Gln	Somatic		Capture	SOLID	Phase_I	121515868	NM_207317	A8K4M0|Q96M07	Missense_Mutation	SNP	ENST00000296600.4	37	CCDS4130.1	16	0.007326007326007326	0	0.0	3	0.008287292817679558	0	0.0	13	0.017150395778364115	G	10.15	1.271155	0.23221	0.003404	0.019884	ENSG00000164185	ENST00000296600	T	0.51325	0.71	5.58	-1.72	0.08107	.	3.416030	0.00792	N	0.001340	T	0.30230	0.0758	L	0.52011	1.625	0.19775	N	0.999959	P	0.51147	0.942	P	0.47470	0.548	T	0.34551	-0.9824	10	0.27082	T	0.32	1.9702	6.2544	0.20865	0.5859:0.0:0.2818:0.1323	.	95	Q6S9Z5	ZN474_HUMAN	Q	95	ENSP00000296600:R95Q	ENSP00000296600:R95Q	R	+	2	0	ZNF474	121515868	0.019000	0.18553	0.146000	0.22360	0.062000	0.15995	-0.172000	0.09868	-0.163000	0.10946	-0.123000	0.14984	CGG		0.502	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250883.2	NM_207317	
ZNF474	133923	hgsc.bcm.edu	37	5	121488265	121488265	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:121488265C>T	ENST00000296600.4	+	2	963	c.580C>T	c.(580-582)Ccc>Tcc	p.P194S	CTC-441N14.1_ENST00000505209.1_RNA|ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	194							metal ion binding (GO:0046872)	p.P194S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		GGGTGAGGGTCCCAGAGCACC	0.522																																					p.P194S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C580T	5						.						96.0	91.0	93.0					5																	121488265		2203	4300	6503	121516164	SO:0001583	missense	133923	exon2			AK057483	CCDS4130.1	5q23.2	2008-02-05			ENSG00000164185	ENSG00000164185		"""Zinc fingers, C2H2-type"""	23245	protein-coding gene	gene with protein product							Standard	NM_207317		Approved	4933409D10Rik, FLJ32921	uc003ksv.3	Q6S9Z5	OTTHUMG00000128911	ENST00000296600.4:c.580C>T	5.37:g.121488265C>T	ENSP00000296600:p.Pro194Ser	Somatic		Capture	SOLID	Phase_I	121516164	NM_207317	A8K4M0|Q96M07	Missense_Mutation	SNP	ENST00000296600.4	37	CCDS4130.1	.	.	.	.	.	.	.	.	.	.	C	0.026	-1.373609	0.01214	.	.	ENSG00000164185	ENST00000296600	T	0.49720	0.77	5.28	3.48	0.39840	Zinc finger, C2H2 (1);	1.024020	0.07841	U	0.962997	T	0.36744	0.0978	L	0.32530	0.975	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22243	-1.0222	10	0.09084	T	0.74	-1.3025	12.2513	0.54599	0.0:0.6015:0.3289:0.0696	.	194	Q6S9Z5	ZN474_HUMAN	S	194	ENSP00000296600:P194S	ENSP00000296600:P194S	P	+	1	0	ZNF474	121516164	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.040000	0.12104	0.728000	0.32382	-0.795000	0.03280	CCC		0.522	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250883.2	NM_207317	
FBN2	2201	hgsc.bcm.edu	37	5	127610260	127610260	+	Splice_Site	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:127610260G>A	ENST00000508053.1	-	66	8684	c.7710C>T	c.(7708-7710)atC>atT	p.I2570I	FBN2_ENST00000262464.4_Splice_Site_p.I2570I			P35556	FBN2_HUMAN	fibrillin 2	2570	EGF-like 43; 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.I2570I(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)		TTGTCTTACCGATACAAGCAG	0.368																																					p.I2570I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7710T	5						.						85.0	83.0	84.0					5																	127610260		2203	4300	6503	127638159	SO:0001630	splice_region_variant	2201	exon60			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.7711+1C>T	5.37:g.127610260G>A		Somatic		Capture	SOLID	Phase_I	127638159	NM_001999	B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	CCDS34222.1																																																																																				0.368	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	Silent
IL4	3565	hgsc.bcm.edu	37	5	132018212	132018212	+	Missense_Mutation	SNP	C	C	T	rs201145789		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:132018212C>T	ENST00000231449.2	+	4	460	c.395C>T	c.(394-396)aCg>aTg	p.T132M	IL4_ENST00000350025.2_Missense_Mutation_p.T116M	NM_000589.3	NP_000580.1	P05112	IL4_HUMAN	interleukin 4	132					B cell costimulation (GO:0031296)|B cell differentiation (GO:0030183)|cellular defense response (GO:0006968)|cellular response to mercury ion (GO:0071288)|chemotaxis (GO:0006935)|cholesterol metabolic process (GO:0008203)|connective tissue growth factor biosynthetic process (GO:0045189)|defense response to protozoan (GO:0042832)|dendritic cell differentiation (GO:0097028)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|female pregnancy (GO:0007565)|immune response (GO:0006955)|innate immune response in mucosa (GO:0002227)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of macrophage activation (GO:0043031)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of T-helper 17 cell differentiation (GO:2000320)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of immune response (GO:0050776)|regulation of isotype switching (GO:0045191)|regulation of phosphorylation (GO:0042325)|regulation of proton transport (GO:0010155)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|T-helper 1 cell lineage commitment (GO:0002296)|T-helper 2 cell cytokine production (GO:0035745)|T-helper 2 cell differentiation (GO:0045064)|type 2 immune response (GO:0042092)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-4 receptor binding (GO:0005136)	p.T132M(1)		NS(1)|large_intestine(3)|lung(3)|prostate(1)	8		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)		AACCAGAGTACGTTGGAAAAC	0.368																																					p.T116M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C347T	5						.						90.0	91.0	90.0					5																	132018212		2203	4300	6503	132046111	SO:0001583	missense	3565	exon3			M23442	CCDS4158.1, CCDS4159.1	5q23-q31	2011-07-14			ENSG00000113520	ENSG00000113520		"""Interleukins and interleukin receptors"""	6014	protein-coding gene	gene with protein product	"""B_cell stimulatory factor 1"", ""lymphocyte stimulatory factor 1"", ""B cell growth factor 1"""	147780				3016727	Standard	NM_000589		Approved	BSF1, IL-4, BCGF1, BCGF-1, MGC79402	uc003kxk.2	P05112	OTTHUMG00000059724	ENST00000231449.2:c.395C>T	5.37:g.132018212C>T	ENSP00000231449:p.Thr132Met	Somatic		Capture	SOLID	Phase_I	132046111	NM_172348	Q14630|Q6NZ77	Missense_Mutation	SNP	ENST00000231449.2	37	CCDS4158.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387064	0.25031	.	.	ENSG00000113520	ENST00000231449;ENST00000350025	T;T	0.56611	0.45;0.45	5.24	3.28	0.37604	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.128360	0.35970	N	0.002872	T	0.39886	0.1095	L	0.41236	1.265	0.09310	N	1	B;B	0.29955	0.263;0.263	B;B	0.31337	0.128;0.128	T	0.37033	-0.9723	10	0.62326	D	0.03	-8.7999	5.3445	0.16002	0.2465:0.6485:0.0:0.105	.	116;132	Q5FC01;P05112	.;IL4_HUMAN	M	132;116	ENSP00000231449:T132M;ENSP00000325190:T116M	ENSP00000231449:T132M	T	+	2	0	IL4	132046111	0.007000	0.16637	0.003000	0.11579	0.013000	0.08279	0.893000	0.28336	1.219000	0.43474	-0.137000	0.14449	ACG		0.368	IL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132786.1	NM_000589	
KIF3A	11127	hgsc.bcm.edu	37	5	132034902	132034902	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:132034902C>T	ENST00000378746.4	-	16	2230	c.2012G>A	c.(2011-2013)cGa>cAa	p.R671Q	KIF3A_ENST00000378735.1_Missense_Mutation_p.R674Q|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Missense_Mutation_p.R698Q|KIF3A_ENST00000487055.1_5'Flank	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	671					anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)	p.R671Q(1)		endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTTGAAGTTCGTGGTCTTTC	0.433																																					p.R671Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2012A	5						.						277.0	245.0	256.0					5																	132034902		2203	4300	6503	132062801	SO:0001583	missense	11127	exon16			AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"""Kinesins"""	6319	protein-coding gene	gene with protein product	"""kinesin family protein 3A"""	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.2012G>A	5.37:g.132034902C>T	ENSP00000368020:p.Arg671Gln	Somatic		Capture	SOLID	Phase_I	132062801	NM_007054	A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Missense_Mutation	SNP	ENST00000378746.4	37	CCDS34235.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822902	0.71028	.	.	ENSG00000131437	ENST00000378746;ENST00000378735;ENST00000541316;ENST00000450441;ENST00000403231	T;T;T;T	0.10288	2.89;2.89;2.89;2.89	5.85	5.85	0.93711	.	0.048798	0.85682	D	0.000000	T	0.10121	0.0248	L	0.39898	1.24	0.80722	D	1	P;B;B;P	0.39782	0.688;0.382;0.382;0.553	B;B;B;B	0.23018	0.043;0.043;0.043;0.043	T	0.06075	-1.0847	10	0.52906	T	0.07	.	20.172	0.98160	0.0:1.0:0.0:0.0	.	698;698;671;697	E9PES4;B4DHG8;Q9Y496;Q2UVF2	.;.;KIF3A_HUMAN;.	Q	671;674;698;157;698	ENSP00000368020:R671Q;ENSP00000368009:R674Q;ENSP00000405619:R157Q;ENSP00000385808:R698Q	ENSP00000368009:R674Q	R	-	2	0	KIF3A	132062801	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	3.847000	0.55895	2.766000	0.95052	0.650000	0.86243	CGA		0.433	KIF3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132788.3	NM_007054	
KIF3A	11127	hgsc.bcm.edu	37	5	132038286	132038286	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:132038286C>A	ENST00000378746.4	-	12	1859	c.1641G>T	c.(1639-1641)aaG>aaT	p.K547N	KIF3A_ENST00000378735.1_Missense_Mutation_p.K550N|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Missense_Mutation_p.K574N|KIF3A_ENST00000487055.1_5'UTR	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	547					anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)	p.K547N(1)		endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCAAACTTTCTTTAACTTCT	0.363																																					p.K547N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1641T	5						.						166.0	165.0	165.0					5																	132038286		2203	4300	6503	132066185	SO:0001583	missense	11127	exon12			AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"""Kinesins"""	6319	protein-coding gene	gene with protein product	"""kinesin family protein 3A"""	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.1641G>T	5.37:g.132038286C>A	ENSP00000368020:p.Lys547Asn	Somatic		Capture	SOLID	Phase_I	132066185	NM_007054	A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Missense_Mutation	SNP	ENST00000378746.4	37	CCDS34235.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791892	0.70452	.	.	ENSG00000131437	ENST00000378746;ENST00000378735;ENST00000541316;ENST00000450441;ENST00000403231	T;T;T;T	0.10099	2.91;3.65;2.93;2.91	5.7	2.98	0.34508	.	0.000000	0.85682	D	0.000000	T	0.29491	0.0735	M	0.79011	2.435	0.58432	D	0.999999	D;D;D;D	0.58268	0.981;0.981;0.982;0.981	D;D;P;D	0.67231	0.95;0.95;0.637;0.95	T	0.00807	-1.1558	10	0.46703	T	0.11	.	10.9563	0.47360	0.0:0.7986:0.0:0.2014	.	574;574;547;573	E9PES4;B4DHG8;Q9Y496;Q2UVF2	.;.;KIF3A_HUMAN;.	N	547;550;574;75;574	ENSP00000368020:K547N;ENSP00000368009:K550N;ENSP00000405619:K75N;ENSP00000385808:K574N	ENSP00000368009:K550N	K	-	3	2	KIF3A	132066185	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.728000	0.47319	0.351000	0.24027	0.655000	0.94253	AAG		0.363	KIF3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132788.3	NM_007054	
AFF4	27125	hgsc.bcm.edu	37	5	132216874	132216874	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:132216874G>T	ENST00000265343.5	-	21	3748	c.3369C>A	c.(3367-3369)ttC>ttA	p.F1123L		NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	1123					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F1123L(1)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTTCAGCAAAGAATTCTAGAA	0.368																																					p.F1123L	Ovarian(126;889 1733 2942 10745 11605)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3369A	5						.						59.0	60.0	60.0					5																	132216874		2203	4300	6503	132244773	SO:0001583	missense	27125	exon21			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.3369C>A	5.37:g.132216874G>T	ENSP00000265343:p.Phe1123Leu	Somatic		Capture	SOLID	Phase_I	132244773	NM_014423	B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.510234	0.44660	.	.	ENSG00000072364	ENST00000265343	T	0.76968	-1.06	6.01	6.01	0.97437	.	0.048886	0.85682	D	0.000000	T	0.80969	0.4726	M	0.86178	2.8	0.80722	D	1	B	0.22276	0.067	B	0.27076	0.076	T	0.78349	-0.2238	10	0.56958	D	0.05	-9.6303	13.6832	0.62499	0.0701:0.0:0.9299:0.0	.	1123	Q9UHB7	AFF4_HUMAN	L	1123	ENSP00000265343:F1123L	ENSP00000265343:F1123L	F	-	3	2	AFF4	132244773	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.105000	0.57797	2.861000	0.98227	0.650000	0.86243	TTC		0.368	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423	
MYOT	9499	hgsc.bcm.edu	37	5	137222632	137222632	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:137222632T>G	ENST00000239926.4	+	9	1644	c.1270T>G	c.(1270-1272)Tca>Gca	p.S424A	PKD2L2_ENST00000508883.1_5'Flank|PKD2L2_ENST00000290431.5_5'Flank|PKD2L2_ENST00000508638.1_5'Flank|MYOT_ENST00000421631.2_Missense_Mutation_p.S240A|PKD2L2_ENST00000350250.4_5'Flank|RP11-381K20.2_ENST00000514616.1_RNA|PKD2L2_ENST00000502810.1_5'Flank|RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.S309A	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	424	Ig-like C2-type 2.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)	p.S424A(1)		cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTATACTGTGTCAGCAGTTAA	0.328																																					p.S424A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1270G	5						.						84.0	93.0	90.0					5																	137222632		2203	4300	6503	137250531	SO:0001583	missense	9499	exon9			AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.1270T>G	5.37:g.137222632T>G	ENSP00000239926:p.Ser424Ala	Somatic		Capture	SOLID	Phase_I	137250531	NM_006790	A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.536194	0.85812	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.66638	-0.22;-0.22;-0.22	5.77	5.77	0.91146	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.157646	0.45126	D	0.000395	T	0.78792	0.4339	L	0.58583	1.82	0.80722	D	1	D	0.67145	0.996	D	0.85130	0.997	T	0.76293	-0.3012	10	0.32370	T	0.25	.	16.3892	0.83528	0.0:0.0:0.0:1.0	.	424	Q9UBF9	MYOTI_HUMAN	A	424;240;309	ENSP00000239926:S424A;ENSP00000391185:S240A;ENSP00000426281:S309A	ENSP00000239926:S424A	S	+	1	0	MYOT	137250531	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.299000	0.78831	2.330000	0.79161	0.477000	0.44152	TCA		0.328	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790	
BRD8	10902	hgsc.bcm.edu	37	5	137486592	137486592	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:137486592C>T	ENST00000254900.5	-	22	3333	c.2962G>A	c.(2962-2964)Gaa>Aaa	p.E988K		NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	988					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)	p.E988K(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTTTCTCCTTCGCTAGCTTTA	0.483																																					p.E988K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2962A	5						.						116.0	106.0	109.0					5																	137486592		2203	4300	6503	137514491	SO:0001583	missense	10902	exon22			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.2962G>A	5.37:g.137486592C>T	ENSP00000254900:p.Glu988Lys	Somatic		Capture	SOLID	Phase_I	137514491	NM_139199	O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.153174	0.38021	.	.	ENSG00000112983	ENST00000254900;ENST00000427976	T;T	0.35048	1.7;1.33	4.19	2.3	0.28687	.	0.178649	0.26627	N	0.023322	T	0.16599	0.0399	N	0.14661	0.345	0.53688	D	0.999975	B	0.06786	0.001	B	0.04013	0.001	T	0.08743	-1.0707	10	0.10636	T	0.68	.	6.5983	0.22687	0.0:0.7669:0.0:0.2331	.	988	Q9H0E9	BRD8_HUMAN	K	988;94	ENSP00000254900:E988K;ENSP00000392646:E94K	ENSP00000254900:E988K	E	-	1	0	BRD8	137514491	0.036000	0.19791	0.441000	0.26858	0.133000	0.20885	0.422000	0.21296	0.350000	0.24002	0.491000	0.48974	GAA		0.483	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696	
DNAH5	1767	hgsc.bcm.edu	37	5	13792236	13792236	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:13792236C>T	ENST00000265104.4	-	50	8419	c.8315G>A	c.(8314-8316)cGa>cAa	p.R2772Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2772	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R2772Q(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGCCATAGTCGGCGTGTCAG	0.473									Kartagener syndrome																												p.R2772Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8315A	5						.						115.0	112.0	113.0					5																	13792236		2203	4300	6503	13845236	SO:0001583	missense	1767	exon50	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.8315G>A	5.37:g.13792236C>T	ENSP00000265104:p.Arg2772Gln	Somatic		Capture	SOLID	Phase_I	13845236	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.311430	0.23821	.	.	ENSG00000039139	ENST00000265104	T	0.34859	1.34	5.51	4.64	0.57946	ATPase, AAA+ type, core (1);	0.266206	0.34002	N	0.004356	T	0.26882	0.0658	L	0.37561	1.115	0.09310	N	0.999999	B	0.23540	0.087	B	0.26969	0.075	T	0.18304	-1.0341	10	0.13853	T	0.58	.	10.7462	0.46181	0.0:0.8542:0.0:0.1458	.	2772	Q8TE73	DYH5_HUMAN	Q	2772	ENSP00000265104:R2772Q	ENSP00000265104:R2772Q	R	-	2	0	DNAH5	13845236	0.016000	0.18221	0.803000	0.32268	0.994000	0.84299	1.266000	0.33039	1.470000	0.48102	0.655000	0.94253	CGA		0.473	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
DNAH5	1767	hgsc.bcm.edu	37	5	13809274	13809274	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:13809274G>A	ENST00000265104.4	-	46	7735	c.7631C>T	c.(7630-7632)aCg>aTg	p.T2544M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2544					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T2544M(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGGGTACGCGTGTTCCAGTG	0.438									Kartagener syndrome																												p.T2544M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7631T	5						.						163.0	152.0	156.0					5																	13809274		2203	4300	6503	13862274	SO:0001583	missense	1767	exon46	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.7631C>T	5.37:g.13809274G>A	ENSP00000265104:p.Thr2544Met	Somatic		Capture	SOLID	Phase_I	13862274	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.408910	0.25378	.	.	ENSG00000039139	ENST00000265104	T	0.23950	1.88	5.91	5.04	0.67666	.	0.207319	0.49305	N	0.000144	T	0.31263	0.0791	M	0.69823	2.125	0.44736	D	0.997739	B	0.16396	0.017	B	0.17433	0.018	T	0.06954	-1.0798	10	0.46703	T	0.11	.	14.189	0.65625	0.0724:0.0:0.9276:0.0	.	2544	Q8TE73	DYH5_HUMAN	M	2544	ENSP00000265104:T2544M	ENSP00000265104:T2544M	T	-	2	0	DNAH5	13862274	0.998000	0.40836	0.515000	0.27774	0.055000	0.15305	2.658000	0.46733	1.484000	0.48361	0.655000	0.94253	ACG		0.438	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
DNAH5	1767	hgsc.bcm.edu	37	5	13841165	13841165	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:13841165T>G	ENST00000265104.4	-	34	5663	c.5559A>C	c.(5557-5559)aaA>aaC	p.K1853N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1853	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K1853N(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCATGATTTTTTTATCAAACT	0.398									Kartagener syndrome																												p.K1853N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5559C	5						.						138.0	135.0	136.0					5																	13841165		2203	4300	6503	13894165	SO:0001583	missense	1767	exon34	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5559A>C	5.37:g.13841165T>G	ENSP00000265104:p.Lys1853Asn	Somatic		Capture	SOLID	Phase_I	13894165	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	15.59	2.877621	0.51801	.	.	ENSG00000039139	ENST00000265104	T	0.25749	1.78	5.77	0.771	0.18504	.	0.050844	0.85682	D	0.000000	T	0.38983	0.1061	M	0.93507	3.425	0.43693	D	0.996147	P	0.35944	0.529	B	0.38921	0.285	T	0.38887	-0.9640	10	0.87932	D	0	.	8.8599	0.35251	0.0:0.2951:0.0:0.7049	.	1853	Q8TE73	DYH5_HUMAN	N	1853	ENSP00000265104:K1853N	ENSP00000265104:K1853N	K	-	3	2	DNAH5	13894165	0.277000	0.24220	0.997000	0.53966	0.912000	0.54170	-0.490000	0.06482	-0.085000	0.12573	-0.274000	0.10170	AAA		0.398	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
KDM3B	51780	hgsc.bcm.edu	37	5	137765961	137765961	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:137765961G>T	ENST00000314358.5	+	22	5117	c.4917G>T	c.(4915-4917)gaG>gaT	p.E1639D	KDM3B_ENST00000394866.1_Missense_Mutation_p.E1295D|KDM3B_ENST00000542866.1_Missense_Mutation_p.E671D	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1639	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.E1639D(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						aaggccaagagaacCCCCCTG	0.458																																					p.E1639D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4917T	5						.						87.0	85.0	86.0					5																	137765961		2203	4300	6503	137793860	SO:0001583	missense	51780	exon22			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.4917G>T	5.37:g.137765961G>T	ENSP00000326563:p.Glu1639Asp	Somatic		Capture	SOLID	Phase_I	137793860	NM_016604	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122499	0.77436	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.72051	-0.62;-0.62;-0.62	5.4	3.2	0.36748	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	T	0.69717	0.3142	N	0.25890	0.77	0.54753	D	0.999983	D;B	0.67145	0.996;0.115	D;B	0.75484	0.986;0.32	T	0.66988	-0.5784	10	0.46703	T	0.11	-3.0763	5.3118	0.15835	0.5935:0.0:0.4065:0.0	.	1295;1639	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	D	1639;1429;1295;671	ENSP00000326563:E1639D;ENSP00000378335:E1295D;ENSP00000439462:E671D	ENSP00000326563:E1639D	E	+	3	2	KDM3B	137793860	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.039000	0.64185	0.594000	0.29761	0.655000	0.94253	GAG		0.458	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604	
PSD2	84249	hgsc.bcm.edu	37	5	139216447	139216447	+	Silent	SNP	C	C	T	rs143306197		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:139216447C>T	ENST00000274710.3	+	10	1660	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	485					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.F485F(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGACAAGTTCGGGACAGGCA	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		21225	0.001		0.0	False		,,,				2504	0.0				p.F485F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1455T	5						.	C		0,4406		0,0,2203	162.0	147.0	152.0		1455	1.7	1.0	5	dbSNP_134	152	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PSD2	NM_032289.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		485/772	139216447	1,13005	2203	4300	6503	139196631	SO:0001819	synonymous_variant	84249	exon10			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1455C>T	5.37:g.139216447C>T		Somatic		Capture	SOLID	Phase_I	139196631	NM_032289	D3DQD3|Q8N3J8	Silent	SNP	ENST00000274710.3	37	CCDS4216.1																																																																																				0.607	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289	
PCDHB7	56129	hgsc.bcm.edu	37	5	140553793	140553793	+	Silent	SNP	T	T	C	rs114684348	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:140553793T>C	ENST00000231137.3	+	1	1551	c.1377T>C	c.(1375-1377)ttT>ttC	p.F459F		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	459	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGTTTGTCCGTGAGA	0.607													T|||	2	0.000399361	0.0008	0.0	5008	,	,		17724	0.001		0.0	False		,,,				2504	0.0				p.F459F												.	.	0			c.T1377C	5						.	T		3,4403	6.2+/-15.9	0,3,2200	137.0	133.0	134.0		1377	-8.9	0.0	5	dbSNP_133	134	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PCDHB7	NM_018940.2		0,5,6498	CC,CT,TT		0.0233,0.0681,0.0384		459/794	140553793	5,13001	2203	4300	6503	140533977	SO:0001819	synonymous_variant	56129	exon1			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1377T>C	5.37:g.140553793T>C		Somatic		Capture	SOLID	Phase_I	140533977	NM_018940	A1L3Y8	Silent	SNP	ENST00000231137.3	37	CCDS4249.1																																																																																				0.607	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940	
PCDHB13	56123	hgsc.bcm.edu	37	5	140594625	140594625	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:140594625C>T	ENST00000341948.4	+	1	1117	c.930C>T	c.(928-930)ttC>ttT	p.F310F		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	310	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.F310F(2)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACTCGATTTCGAAAAACTTC	0.378																																					p.F310F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C930T	5						.																																			140574809	SO:0001819	synonymous_variant	56123	exon1			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.930C>T	5.37:g.140594625C>T		Somatic		Capture	SOLID	Phase_I	140574809	NM_018933	A8K9V6	Silent	SNP	ENST00000341948.4	37	CCDS4255.1																																																																																				0.378	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933	
FAT2	2196	hgsc.bcm.edu	37	5	150901613	150901613	+	Missense_Mutation	SNP	A	A	G	rs2053028	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:150901613A>G	ENST00000261800.5	-	18	10553	c.10541T>C	c.(10540-10542)tTg>tCg	p.L3514S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3514	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.		L -> S (in dbSNP:rs2053028).		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.L3514S(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)			GACAGACGTCAAAGACGAGAG	0.557													G|||	3885	0.775759	0.6188	0.7997	5008	,	,		20566	0.9494		0.7167	False		,,,				2504	0.8528				p.L3514S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T10541C	5						.	G	SER/LEU	2803,1603	493.4+/-362.7	893,1017,293	44.0	39.0	41.0		10541	2.4	0.0	5	dbSNP_94	41	6171,2429	399.8+/-346.6	2216,1739,345	yes	missense	FAT2	NM_001447.2	145	3109,2756,638	GG,GA,AA		28.2442,36.3822,31.0011	benign	3514/4350	150901613	8974,4032	2203	4300	6503	150881806	SO:0001583	missense	2196	exon18			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.10541T>C	5.37:g.150901613A>G	ENSP00000261800:p.Leu3514Ser	Somatic		Capture	SOLID	Phase_I	150881806	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	1687	0.7724358974358975	310	0.6300813008130082	285	0.787292817679558	546	0.9545454545454546	546	0.7203166226912929	G	0.634	-0.816203	0.02776	0.636178	0.717558	ENSG00000086570	ENST00000261800	T	0.50277	0.75	5.14	2.36	0.29203	Cadherin (4);Cadherin-like (1);	0.127943	0.36893	N	0.002357	T	0.00012	0.0000	N	0.01122	-1.005	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.0	T	0.37957	-0.9683	9	0.06625	T	0.88	.	9.2695	0.37661	0.3378:0.0:0.6622:0.0	rs2053028;rs3734048;rs59754214;rs2053028	3514;705	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	S	3514	ENSP00000261800:L3514S	ENSP00000261800:L3514S	L	-	2	0	FAT2	150881806	0.984000	0.35163	0.001000	0.08648	0.234000	0.25298	2.342000	0.43992	0.036000	0.15547	-0.213000	0.12676	TTG		0.557	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FAT2	2196	hgsc.bcm.edu	37	5	150923139	150923139	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:150923139C>A	ENST00000261800.5	-	9	7561	c.7549G>T	c.(7549-7551)Gat>Tat	p.D2517Y		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2517	Cadherin 22. {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.D2517Y(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)			ATAGTATAATCTATAGTGCCA	0.418																																					p.D2517Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7549T	5						.						110.0	115.0	113.0					5																	150923139		2203	4300	6503	150903332	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.7549G>T	5.37:g.150923139C>A	ENSP00000261800:p.Asp2517Tyr	Somatic		Capture	SOLID	Phase_I	150903332	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.820417	0.32145	.	.	ENSG00000086570	ENST00000261800	T	0.50548	0.74	5.43	4.56	0.56223	Cadherin (4);Cadherin-like (1);	0.083382	0.51477	D	0.000100	T	0.50752	0.1634	N	0.20685	0.6	0.41978	D	0.990783	D	0.76494	0.999	D	0.77004	0.989	T	0.54139	-0.8338	10	0.56958	D	0.05	.	10.061	0.42275	0.0:0.8483:0.0:0.1517	.	2517	Q9NYQ8	FAT2_HUMAN	Y	2517	ENSP00000261800:D2517Y	ENSP00000261800:D2517Y	D	-	1	0	FAT2	150903332	0.993000	0.37304	0.950000	0.38849	0.799000	0.45148	3.073000	0.50057	1.292000	0.44672	0.462000	0.41574	GAT		0.418	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
NMUR2	56923	hgsc.bcm.edu	37	5	151784557	151784557	+	Missense_Mutation	SNP	G	G	A	rs200482355	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:151784557G>A	ENST00000255262.3	-	1	283	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	40					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			TGGCTGCGCCGAGGTCCGCAG	0.532													G|||	4	0.000798722	0.0	0.0	5008	,	,		16907	0.004		0.0	False		,,,				2504	0.0				p.R40W												.	.	0			c.C118T	5						.	G	TRP/ARG	0,4406		0,0,2203	97.0	94.0	95.0		118	1.9	0.0	5		95	1,8599	1.2+/-3.3	0,1,4299	yes	missense	NMUR2	NM_020167.4	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	40/416	151784557	1,13005	2203	4300	6503	151764750	SO:0001583	missense	56923	exon1			AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.118C>T	5.37:g.151784557G>A	ENSP00000255262:p.Arg40Trp	Somatic		Capture	SOLID	Phase_I	151764750	NM_020167	Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	CCDS4321.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	G	15.78	2.933864	0.52866	0.0	1.16E-4	ENSG00000132911	ENST00000255262	T	0.37752	1.18	5.54	1.91	0.25777	.	0.955062	0.08624	N	0.917978	T	0.39784	0.1091	M	0.62723	1.935	0.09310	N	1	D	0.71674	0.998	P	0.50791	0.65	T	0.43327	-0.9398	10	0.62326	D	0.03	1.1979	13.954	0.64135	0.0:0.0:0.2738:0.7261	.	40	Q9GZQ4	NMUR2_HUMAN	W	40	ENSP00000255262:R40W	ENSP00000255262:R40W	R	-	1	2	NMUR2	151764750	0.969000	0.33509	0.005000	0.12908	0.737000	0.42083	2.582000	0.46085	0.387000	0.25024	0.655000	0.94253	CGG		0.532	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167	
GRIA1	2890	hgsc.bcm.edu	37	5	152870529	152870529	+	Splice_Site	SNP	C	C	T	rs150205263	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:152870529C>T	ENST00000285900.5	+	1	424	c.81C>T	c.(79-81)atC>atT	p.I27I	GRIA1_ENST00000518862.1_Intron|GRIA1_ENST00000518142.1_Splice_Site_p.I27I|GRIA1_ENST00000521843.2_5'Flank|GRIA1_ENST00000448073.4_5'Flank|GRIA1_ENST00000518783.1_5'Flank|GRIA1_ENST00000340592.5_Splice_Site_p.I27I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	27					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|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)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|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)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.I27I(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	ATATCCAGATCGGTGAGTGAG	0.532																																					p.I27I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C81T	5						.						148.0	146.0	147.0					5																	152870529		2203	4300	6503	152850722	SO:0001630	splice_region_variant	2890	exon1				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.82+1C>T	5.37:g.152870529C>T		Somatic		Capture	SOLID	Phase_I	152850722	NM_001114183	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	CCDS4322.1																																																																																				0.532	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3		Silent
HMMR	3161	hgsc.bcm.edu	37	5	162900208	162900208	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:162900208T>G	ENST00000358715.3	+	8	707	c.671T>G	c.(670-672)aTt>aGt	p.I224S	HMMR_ENST00000432118.2_Missense_Mutation_p.I138S|HMMR_ENST00000353866.3_Missense_Mutation_p.I209S|HMMR_ENST00000393915.4_Missense_Mutation_p.I225S			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	224					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)	p.I224S(1)		cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	AAAGAAAAGATTGATGAAAAA	0.259																																					p.I225S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T674G	5						.						29.0	30.0	30.0					5																	162900208		2168	4256	6424	162832786	SO:0001583	missense	3161	exon8			U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.671T>G	5.37:g.162900208T>G	ENSP00000351554:p.Ile224Ser	Somatic		Capture	SOLID	Phase_I	162832786	NM_001142556	A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	ENST00000358715.3	37	CCDS4362.1	.	.	.	.	.	.	.	.	.	.	T	10.67	1.416909	0.25552	.	.	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000434157;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86	5.61	-0.353	0.12594	.	0.531870	0.20624	N	0.088706	T	0.09158	0.0226	L	0.54323	1.7	0.24854	N	0.992387	B;B;B;B	0.19583	0.013;0.017;0.037;0.037	B;B;B;B	0.15484	0.013;0.008;0.013;0.013	T	0.44390	-0.9331	10	0.07644	T	0.81	-0.0228	12.2012	0.54326	0.0:0.2955:0.0:0.7045	.	138;225;209;224	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	S	110;209;209;225;201;138;224	ENSP00000400527:I110S;ENSP00000185942:I209S;ENSP00000377492:I225S;ENSP00000402673:I138S;ENSP00000351554:I224S	ENSP00000185942:I209S	I	+	2	0	HMMR	162832786	0.491000	0.26019	0.931000	0.37212	0.932000	0.56968	-0.245000	0.08890	-0.294000	0.08973	0.533000	0.62120	ATT		0.259	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484	
RARS	5917	hgsc.bcm.edu	37	5	167937606	167937606	+	Missense_Mutation	SNP	C	C	T	rs139644798	byFrequency	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:167937606C>T	ENST00000231572.3	+	12	1421	c.1367C>T	c.(1366-1368)tCg>tTg	p.S456L	RARS_ENST00000538719.1_Missense_Mutation_p.S250L	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	456					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.S456L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		AAAACACGTTCGGGTGAAACA	0.368													C|||	3	0.000599042	0.0	0.0	5008	,	,		18216	0.002		0.0	False		,,,				2504	0.001				p.S456L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1367T	5						.	C	LEU/SER	0,4406		0,0,2203	55.0	56.0	56.0		1367	5.0	0.9	5	dbSNP_134	56	9,8591	7.1+/-27.0	0,9,4291	yes	missense	RARS	NM_002887.3	145	0,9,6494	TT,TC,CC		0.1047,0.0,0.0692	probably-damaging	456/661	167937606	9,12997	2203	4300	6503	167870184	SO:0001583	missense	5917	exon12			BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	9870	protein-coding gene	gene with protein product	"""arginine tRNA ligase 1, cytoplasmic"""	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.1367C>T	5.37:g.167937606C>T	ENSP00000231572:p.Ser456Leu	Somatic		Capture	SOLID	Phase_I	167870184	NM_002887	B2RBS9|Q53GY4|Q9BWA1	Missense_Mutation	SNP	ENST00000231572.3	37	CCDS4367.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490630	0.64074	0.0	0.001047	ENSG00000113643	ENST00000231572;ENST00000538719	T;T	0.65732	0.08;-0.17	4.99	4.99	0.66335	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.125717	0.56097	D	0.000028	T	0.77638	0.4160	M	0.89287	3.02	0.80722	D	1	P	0.46578	0.88	P	0.50537	0.643	T	0.83275	-0.0041	10	0.87932	D	0	-4.5465	18.6482	0.91419	0.0:1.0:0.0:0.0	.	456	P54136	SYRC_HUMAN	L	456;250	ENSP00000231572:S456L;ENSP00000439108:S250L	ENSP00000231572:S456L	S	+	2	0	RARS	167870184	1.000000	0.71417	0.946000	0.38457	0.214000	0.24535	7.373000	0.79623	2.462000	0.83206	0.655000	0.94253	TCG		0.368	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	NM_002887	
DOCK2	1794	hgsc.bcm.edu	37	5	169463552	169463552	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:169463552T>C	ENST00000256935.8	+	36	3738	c.3658T>C	c.(3658-3660)Tac>Cac	p.Y1220H	DOCK2_ENST00000520908.1_Missense_Mutation_p.Y712H|DOCK2_ENST00000540750.1_Missense_Mutation_p.Y281H|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1220	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.Y1220H(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAGGAGATGTACATAAGGTA	0.423																																					p.Y1220H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3658C	5						.						126.0	124.0	125.0					5																	169463552		2203	4300	6503	169396130	SO:0001583	missense	1794	exon36			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3658T>C	5.37:g.169463552T>C	ENSP00000256935:p.Tyr1220His	Somatic		Capture	SOLID	Phase_I	169396130	NM_004946	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.709292	0.89018	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.56941	0.43;0.43;0.43	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.79118	0.4392	M	0.93854	3.465	0.54753	D	0.999987	D;D	0.89917	1.0;0.998	D;P	0.69654	0.965;0.896	D	0.85025	0.0914	10	0.87932	D	0	.	15.7233	0.77732	0.0:0.0:0.0:1.0	.	712;1220	E7ERW7;Q92608	.;DOCK2_HUMAN	H	1220;712;281	ENSP00000256935:Y1220H;ENSP00000429283:Y712H;ENSP00000438827:Y281H	ENSP00000256935:Y1220H	Y	+	1	0	DOCK2	169396130	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.216000	0.77974	2.193000	0.70182	0.533000	0.62120	TAC		0.423	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
NSD1	64324	hgsc.bcm.edu	37	5	176673712	176673712	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:176673712G>A	ENST00000439151.2	+	10	4457	c.4412G>A	c.(4411-4413)cGa>cAa	p.R1471Q	NSD1_ENST00000361032.4_Missense_Mutation_p.R1368Q|NSD1_ENST00000354179.4_Missense_Mutation_p.R1202Q|NSD1_ENST00000347982.4_Missense_Mutation_p.R1202Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1471					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R1471Q(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCAAGGAAGCGAAAACGACAG	0.418			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											p.R1202Q			Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3605A	5						.						88.0	86.0	87.0					5																	176673712		2203	4300	6503	176606318	SO:0001583	missense	64324	exon11	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4412G>A	5.37:g.176673712G>A	ENSP00000395929:p.Arg1471Gln	Somatic		Capture	SOLID	Phase_I	176606318	NM_172349	Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909459	0.92107	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.95238	-3.65;-3.65;-3.65;-3.65	5.65	5.65	0.86999	.	0.000000	0.51477	D	0.000090	D	0.94722	0.8297	L	0.27053	0.805	0.37515	D	0.917302	D;D;D	0.76494	0.998;0.999;0.999	P;D;P	0.64595	0.895;0.927;0.846	D	0.95919	0.8929	10	0.62326	D	0.03	.	16.9987	0.86376	0.0:0.0:1.0:0.0	.	1202;1368;1471	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	Q	1202;1471;1202;1368	ENSP00000346111:R1202Q;ENSP00000395929:R1471Q;ENSP00000343209:R1202Q;ENSP00000354310:R1368Q	ENSP00000343209:R1202Q	R	+	2	0	NSD1	176606318	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	5.357000	0.66058	2.821000	0.97095	0.650000	0.86243	CGA		0.418	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349	
ADCY2	108	hgsc.bcm.edu	37	5	7520997	7520997	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:7520997G>T	ENST00000338316.4	+	3	644	c.555G>T	c.(553-555)gaG>gaT	p.E185D		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	185					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.E185D(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GAGGCAAGGAGCACCTGGTCT	0.607																																					p.E185D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G555T	5						.						158.0	107.0	125.0					5																	7520997		2203	4300	6503	7573997	SO:0001583	missense	108	exon3			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.555G>T	5.37:g.7520997G>T	ENSP00000342952:p.Glu185Asp	Somatic		Capture	SOLID	Phase_I	7573997	NM_020546	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311522	0.23821	.	.	ENSG00000078295	ENST00000338316;ENST00000541993	T	0.76709	-1.04	5.65	0.782	0.18567	.	0.111756	0.64402	D	0.000013	T	0.63686	0.2532	L	0.44542	1.39	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.48822	-0.9001	10	0.12430	T	0.62	.	8.8099	0.34961	0.371:0.0:0.629:0.0	.	185	Q08462	ADCY2_HUMAN	D	185;36	ENSP00000342952:E185D	ENSP00000342952:E185D	E	+	3	2	ADCY2	7573997	0.991000	0.36638	0.999000	0.59377	0.971000	0.66376	0.187000	0.16998	0.067000	0.16545	0.650000	0.86243	GAG		0.607	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	
CDH12	1010	hgsc.bcm.edu	37	5	21752211	21752211	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:21752211C>T	ENST00000382254.1	-	15	3106	c.2020G>A	c.(2020-2022)Gac>Aac	p.D674N	CDH12_ENST00000504376.2_Missense_Mutation_p.D674N|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.D634N|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	674					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D674N(2)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GCCCCGATGTCGAAAGCCTGG	0.463										HNSCC(59;0.17)																											p.D674N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2020A	5						.						127.0	113.0	118.0					5																	21752211		2203	4300	6503	21787968	SO:0001583	missense	1010	exon15			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2020G>A	5.37:g.21752211C>T	ENSP00000371689:p.Asp674Asn	Somatic		Capture	SOLID	Phase_I	21787968	NM_004061	B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698642	0.88830	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	D;D;D	0.82526	-1.62;-1.62;-1.62	5.27	5.27	0.74061	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.92760	0.7698	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.995;0.996	D	0.93920	0.7205	10	0.87932	D	0	.	18.8936	0.92414	0.0:1.0:0.0:0.0	.	634;674	B7Z2U6;P55289	.;CAD12_HUMAN	N	674;674;634	ENSP00000423577:D674N;ENSP00000371689:D674N;ENSP00000428786:D634N	ENSP00000371689:D674N	D	-	1	0	CDH12	21787968	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.487000	0.81328	2.477000	0.83638	0.467000	0.42956	GAC		0.463	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061	
CDH10	1008	hgsc.bcm.edu	37	5	24593581	24593581	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:24593581A>C	ENST00000264463.4	-	2	526	c.19T>G	c.(19-21)Ttg>Gtg	p.L7V	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	7					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L7V(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AACAGTAGCAAAAATTGATGT	0.403										HNSCC(23;0.051)																											p.L7V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T19G	5						.						67.0	58.0	61.0					5																	24593581		2201	4299	6500	24629338	SO:0001583	missense	1008	exon2			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.19T>G	5.37:g.24593581A>C	ENSP00000264463:p.Leu7Val	Somatic		Capture	SOLID	Phase_I	24629338	NM_006727	Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.108055	0.37242	.	.	ENSG00000040731	ENST00000264463	T	0.56275	0.47	4.37	-1.49	0.08718	.	1.403330	0.04571	N	0.393290	T	0.35068	0.0919	N	0.22421	0.69	0.25214	N	0.989956	B	0.16396	0.017	B	0.10450	0.005	T	0.32481	-0.9905	10	0.59425	D	0.04	.	2.746	0.05267	0.2891:0.0:0.336:0.375	.	7	Q9Y6N8	CAD10_HUMAN	V	7	ENSP00000264463:L7V	ENSP00000264463:L7V	L	-	1	2	CDH10	24629338	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	1.008000	0.29872	0.123000	0.18342	0.477000	0.44152	TTG		0.403	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727	
UGT3A2	167127	hgsc.bcm.edu	37	5	36039698	36039698	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:36039698G>A	ENST00000282507.3	-	5	1057	c.956C>T	c.(955-957)gCc>gTc	p.A319V	UGT3A2_ENST00000513300.1_Missense_Mutation_p.A285V|UGT3A2_ENST00000504954.1_5'Flank|UGT3A2_ENST00000545528.1_Missense_Mutation_p.A17V	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	319					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.A319V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTGAGCAAAGGCATTGTTCAT	0.483																																					p.A285V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C854T	5						.						144.0	132.0	136.0					5																	36039698		2203	4300	6503	36075455	SO:0001583	missense	167127	exon4				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.956C>T	5.37:g.36039698G>A	ENSP00000282507:p.Ala319Val	Somatic		Capture	SOLID	Phase_I	36075455	NM_001168316	B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596290	0.66332	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.69306	-0.39;-0.39;-0.39	3.18	3.18	0.36537	.	0.073053	0.51477	D	0.000085	T	0.76586	0.4008	M	0.65677	2.01	0.25758	N	0.984971	P;D	0.89917	0.938;1.0	P;D	0.79784	0.888;0.993	T	0.65697	-0.6105	10	0.72032	D	0.01	.	9.3615	0.38199	0.0:0.3632:0.6368:0.0	.	285;319	E9PFK7;Q3SY77	.;UD3A2_HUMAN	V	319;285;17	ENSP00000282507:A319V;ENSP00000427404:A285V;ENSP00000445367:A17V	ENSP00000282507:A319V	A	-	2	0	UGT3A2	36075455	0.931000	0.31567	0.991000	0.47740	0.232000	0.25224	1.294000	0.33365	2.077000	0.62373	0.591000	0.81541	GCC		0.483	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914	
LIFR	3977	hgsc.bcm.edu	37	5	38496485	38496485	+	Splice_Site	SNP	A	A	C			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:38496485A>C	ENST00000263409.4	-	13	2046	c.1884T>G	c.(1882-1884)aaT>aaG	p.N628K	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Splice_Site_p.N628K	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	628	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)	p.N628K(1)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AGCACTCACCATTTGGAATTT	0.388			T	PLAG1	salivary adenoma																																p.N628K	Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1884G	5						.						137.0	124.0	129.0					5																	38496485		2203	4300	6503	38532242	SO:0001630	splice_region_variant	3977	exon13			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.1885+1T>G	5.37:g.38496485A>C		Somatic		Capture	SOLID	Phase_I	38532242	NM_002310	Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	A	15.13	2.741229	0.49151	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.54866	0.55;0.55	5.73	-4.12	0.03916	Long hematopoietin receptor, Gp130 family 2, conserved site (1);Fibronectin, type III (2);	0.649761	0.17391	N	0.175936	T	0.35885	0.0947	M	0.61703	1.905	0.35268	D	0.780211	P	0.35433	0.501	B	0.24541	0.054	T	0.53947	-0.8366	10	0.06891	T	0.86	-17.0445	12.659	0.56803	0.5457:0.0:0.4543:0.0	.	628	P42702	LIFR_HUMAN	K	628	ENSP00000263409:N628K;ENSP00000398368:N628K	ENSP00000263409:N628K	N	-	3	2	LIFR	38532242	0.565000	0.26610	0.904000	0.35570	0.695000	0.40330	-0.256000	0.08757	-0.672000	0.05266	0.460000	0.39030	AAT		0.388	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310	Missense_Mutation
LIFR	3977	hgsc.bcm.edu	37	5	38496682	38496682	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:38496682C>A	ENST00000263409.4	-	13	1849	c.1687G>T	c.(1687-1689)Gaa>Taa	p.E563*	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Nonsense_Mutation_p.E563*	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	563	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)	p.E563*(1)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CCATTAGCTTCATTAATGGGT	0.383			T	PLAG1	salivary adenoma																																p.E563X	Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1687T	5						.						108.0	95.0	99.0					5																	38496682		2203	4300	6503	38532439	SO:0001587	stop_gained	3977	exon13			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.1687G>T	5.37:g.38496682C>A	ENSP00000263409:p.Glu563*	Somatic		Capture	SOLID	Phase_I	38532439	NM_002310	Q6LCD9	Nonsense_Mutation	SNP	ENST00000263409.4	37	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	40	8.312627	0.98754	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	.	.	.	5.73	5.73	0.89815	.	0.092990	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-20.7991	18.8838	0.92367	0.0:1.0:0.0:0.0	.	.	.	.	X	563	.	ENSP00000263409:E563X	E	-	1	0	LIFR	38532439	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.067000	0.64357	2.708000	0.92522	0.563000	0.77884	GAA		0.383	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310	
LIFR	3977	hgsc.bcm.edu	37	5	38527317	38527317	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:38527317T>G	ENST00000263409.4	-	4	499	c.337A>C	c.(337-339)Aat>Cat	p.N113H	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.N113H	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	113	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)	p.N113H(1)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TGTAGAGAATTTATTGTTATT	0.284			T	PLAG1	salivary adenoma																																p.N113H	Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A337C	5						.						62.0	64.0	63.0					5																	38527317		2201	4296	6497	38563074	SO:0001583	missense	3977	exon4			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.337A>C	5.37:g.38527317T>G	ENSP00000263409:p.Asn113His	Somatic		Capture	SOLID	Phase_I	38563074	NM_002310	Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	T	3.831	-0.035722	0.07497	.	.	ENSG00000113594	ENST00000263409;ENST00000453190;ENST00000506990	T;T;T	0.45668	0.89;0.89;1.25	5.82	-1.4	0.08968	Fibronectin, type III (3);Immunoglobulin-like fold (1);	13.484300	0.00166	N	0.000000	T	0.29355	0.0731	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.23868	-1.0176	10	0.38643	T	0.18	-0.0595	9.3116	0.37908	0.1274:0.0:0.5283:0.3442	.	113	P42702	LIFR_HUMAN	H	113	ENSP00000263409:N113H;ENSP00000398368:N113H;ENSP00000426685:N113H	ENSP00000263409:N113H	N	-	1	0	LIFR	38563074	0.255000	0.24002	0.000000	0.03702	0.061000	0.15899	0.330000	0.19715	-0.442000	0.07190	-1.526000	0.00926	AAT		0.284	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310	
C6	729	hgsc.bcm.edu	37	5	41181595	41181595	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:41181595C>A	ENST00000263413.3	-	7	1057	c.793G>T	c.(793-795)Gaa>Taa	p.E265*	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Nonsense_Mutation_p.E265*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	265	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				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.E265*(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)				TGTTGATTTTCATTGTGTCCA	0.343																																					p.E265X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G793T	5						.						72.0	71.0	71.0					5																	41181595		2203	4300	6503	41217352	SO:0001587	stop_gained	729	exon7			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.793G>T	5.37:g.41181595C>A	ENSP00000263413:p.Glu265*	Somatic		Capture	SOLID	Phase_I	41217352	NM_000065		Nonsense_Mutation	SNP	ENST00000263413.3	37	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	33	5.205159	0.95033	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	.	.	.	5.96	-2.05	0.07321	.	1.105250	0.06596	N	0.752959	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-4.3597	1.5537	0.02580	0.1657:0.3002:0.1377:0.3963	.	.	.	.	X	265	.	ENSP00000263413:E265X	E	-	1	0	C6	41217352	0.000000	0.05858	0.001000	0.08648	0.031000	0.12232	-0.786000	0.04623	-0.021000	0.14009	0.650000	0.86243	GAA		0.343	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1		
NIM1K	167359	hgsc.bcm.edu	37	5	43246106	43246106	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:43246106C>T	ENST00000512796.1	+	2	1728	c.229C>T	c.(229-231)Cga>Tga	p.R77*	NIM1_ENST00000326035.2_Nonsense_Mutation_p.R77*			Q8IY84	NIM1_HUMAN		77	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.R77*(1)									CTACCGAATTCGAGGGGAAAT	0.537																																					p.R77X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C229T	5						.						70.0	72.0	71.0					5																	43246106		2203	4300	6503	43281863	SO:0001587	stop_gained	167359	exon2																														ENST00000512796.1:c.229C>T	5.37:g.43246106C>T	ENSP00000420849:p.Arg77*	Somatic		Capture	SOLID	Phase_I	43281863	NM_153361	B3KVM1	Nonsense_Mutation	SNP	ENST00000512796.1	37	CCDS3943.1	.	.	.	.	.	.	.	.	.	.	C	49	15.447496	0.99834	.	.	ENSG00000177453	ENST00000326035;ENST00000512796	.	.	.	5.83	4.95	0.65309	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6535	0.68814	0.278:0.722:0.0:0.0	.	.	.	.	X	77	.	.	R	+	1	2	AC114947.1	43281863	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.522000	0.45572	1.423000	0.47198	0.650000	0.86243	CGA		0.537	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1		
PARP8	79668	hgsc.bcm.edu	37	5	50111272	50111272	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:50111272G>A	ENST00000281631.5	+	15	1740	c.1582G>A	c.(1582-1584)Gta>Ata	p.V528I	PARP8_ENST00000503750.2_Missense_Mutation_p.V528I|PARP8_ENST00000514067.2_Missense_Mutation_p.V528I|PARP8_ENST00000514342.2_Missense_Mutation_p.V281I|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Missense_Mutation_p.V507I|PARP8_ENST00000505697.2_Missense_Mutation_p.V528I	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	528						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.V528I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GTAGCCTACCGTATGTGAACG	0.363																																					p.V528I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1582A	5						.						126.0	118.0	121.0					5																	50111272		2203	4300	6503	50147029	SO:0001583	missense	79668	exon16			AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1582G>A	5.37:g.50111272G>A	ENSP00000281631:p.Val528Ile	Somatic		Capture	SOLID	Phase_I	50147029	NM_001178055	Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.874078	0.91664	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000001	T	0.73830	0.3637	L	0.52126	1.63	0.58432	D	0.999996	D;D;D	0.60160	0.987;0.981;0.987	P;D;P	0.65010	0.897;0.931;0.897	T	0.72127	-0.4384	8	.	.	.	-10.561	18.8474	0.92212	0.0:0.0:1.0:0.0	.	420;528;528	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	I	528;528;281;528;528;507;281;281	.	.	V	+	1	0	PARP8	50147029	1.000000	0.71417	0.950000	0.38849	0.932000	0.56968	8.997000	0.93544	2.437000	0.82529	0.650000	0.86243	GTA		0.363	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615	
MIER3	166968	hgsc.bcm.edu	37	5	56226524	56226524	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:56226524C>T	ENST00000381199.3	-	9	806	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	MIER3_ENST00000381213.3_Missense_Mutation_p.E266K|MIER3_ENST00000381226.3_Missense_Mutation_p.E271K|CTD-2310F14.1_ENST00000606813.1_RNA|MIER3_ENST00000409421.1_Missense_Mutation_p.E203K			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	266	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E266K(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		CAGTATCTTTCGATTGCTTCC	0.378																																					p.E266K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G796A	5						.						229.0	205.0	213.0					5																	56226524		2203	4300	6503	56262281	SO:0001583	missense	166968	exon9			BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.796G>A	5.37:g.56226524C>T	ENSP00000370596:p.Glu266Lys	Somatic		Capture	SOLID	Phase_I	56262281	NM_152622	B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Missense_Mutation	SNP	ENST00000381199.3	37		.	.	.	.	.	.	.	.	.	.	C	19.73	3.881563	0.72294	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.68	5.68	0.88126	ELM2 domain (1);	0.084316	0.85682	D	0.000000	T	0.44244	0.1284	L	0.47716	1.5	0.80722	D	1	D;P;B	0.57899	0.981;0.854;0.041	B;B;B	0.41946	0.371;0.173;0.017	T	0.44802	-0.9304	10	0.52906	T	0.07	-9.3353	16.0699	0.80919	0.0:0.8658:0.1342:0.0	.	266;271;266	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	K	271;266;266;203	ENSP00000370624:E271K;ENSP00000370611:E266K;ENSP00000370596:E266K;ENSP00000386584:E203K	ENSP00000370596:E266K	E	-	1	0	MIER3	56262281	0.061000	0.20836	0.966000	0.40874	0.967000	0.64934	1.361000	0.34136	2.837000	0.97791	0.591000	0.81541	GAA		0.378	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000132523.2	NM_152622	
SLC30A5	64924	hgsc.bcm.edu	37	5	68396694	68396694	+	Silent	SNP	C	C	T	rs201023507		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:68396694C>T	ENST00000396591.3	+	2	754	c.144C>T	c.(142-144)ttC>ttT	p.F48F	SLC30A5_ENST00000380860.4_Silent_p.F48F|SLC30A5_ENST00000502979.1_Intron	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	48					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.F48F(2)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TGGGACTTTTCGAATCATATG	0.299																																					p.F48F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C144T	5						.						72.0	72.0	72.0					5																	68396694		2203	4297	6500	68432450	SO:0001819	synonymous_variant	64924	exon2			AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.144C>T	5.37:g.68396694C>T		Somatic		Capture	SOLID	Phase_I	68432450	NM_024055	B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Silent	SNP	ENST00000396591.3	37	CCDS3996.1																																																																																				0.299	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2		
SLC30A5	64924	hgsc.bcm.edu	37	5	68423879	68423879	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:68423879C>T	ENST00000396591.3	+	15	2657	c.2047C>T	c.(2047-2049)Cgt>Tgt	p.R683C	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	683					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.R683C(2)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TCATTTTTGGCGTCATTCTGC	0.353																																					p.R683C												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C2047T	5						.						152.0	158.0	156.0					5																	68423879		2203	4300	6503	68459635	SO:0001583	missense	64924	exon15			AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.2047C>T	5.37:g.68423879C>T	ENSP00000379836:p.Arg683Cys	Somatic		Capture	SOLID	Phase_I	68459635	NM_022902	B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	ENST00000396591.3	37	CCDS3996.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432883	0.62844	.	.	ENSG00000145740	ENST00000396591;ENST00000438236	T	0.64803	-0.12	5.17	5.17	0.71159	.	0.043517	0.85682	D	0.000000	T	0.54078	0.1836	M	0.67397	2.05	0.80722	D	1	P	0.35383	0.498	B	0.25405	0.06	T	0.57112	-0.7867	10	0.41790	T	0.15	.	10.1679	0.42890	0.0:0.8765:0.0:0.1235	.	683	Q8TAD4	ZNT5_HUMAN	C	683;278	ENSP00000379836:R683C	ENSP00000379836:R683C	R	+	1	0	SLC30A5	68459635	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.622000	0.61240	2.689000	0.91719	0.491000	0.48974	CGT		0.353	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2		
IQGAP2	10788	hgsc.bcm.edu	37	5	75993922	75993922	+	Silent	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:75993922C>T	ENST00000274364.6	+	33	4614	c.4317C>T	c.(4315-4317)atC>atT	p.I1439I	IQGAP2_ENST00000396234.3_Silent_p.I935I|IQGAP2_ENST00000502745.1_Silent_p.I935I|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000379730.3_Silent_p.I941I	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1439					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.I1439I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AAGAGCAAATCAATTATTATG	0.323																																					p.I1439I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4317T	5						.						73.0	73.0	73.0					5																	75993922		2203	4300	6503	76029678	SO:0001819	synonymous_variant	10788	exon33			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.4317C>T	5.37:g.75993922C>T		Somatic		Capture	SOLID	Phase_I	76029678	NM_006633	A8K4V1|B7Z8A4|J3KR91	Silent	SNP	ENST00000274364.6	37	CCDS34188.1																																																																																				0.323	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633	
CRHBP	1393	hgsc.bcm.edu	37	5	76259198	76259198	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:76259198G>A	ENST00000274368.4	+	6	1146	c.724G>A	c.(724-726)Gac>Aac	p.D242N	CRHBP_ENST00000514258.1_3'UTR	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	242					behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)	p.D242N(1)|p.D242Y(1)		kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		GGGAATAGGAGACTTTGTGGA	0.473																																					p.D242N												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.G724A	5						.						169.0	171.0	170.0					5																	76259198		2203	4300	6503	76294954	SO:0001583	missense	1393	exon6			X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"""corticotropin releasing hormone-binding protein"""			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.724G>A	5.37:g.76259198G>A	ENSP00000274368:p.Asp242Asn	Somatic		Capture	SOLID	Phase_I	76294954	NM_001882	Q53F32|Q6FHT5	Missense_Mutation	SNP	ENST00000274368.4	37	CCDS4034.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034950	0.93575	.	.	ENSG00000145708	ENST00000274368	.	.	.	5.67	5.67	0.87782	.	0.094660	0.64402	D	0.000001	D	0.83741	0.5320	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85071	0.0940	9	0.72032	D	0.01	-11.2633	19.7713	0.96366	0.0:0.0:1.0:0.0	.	242	P24387	CRHBP_HUMAN	N	242	.	ENSP00000274368:D242N	D	+	1	0	CRHBP	76294954	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	8.883000	0.92426	2.662000	0.90505	0.643000	0.83706	GAC		0.473	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219972.2	NM_001882	
ACOT12	134526	hgsc.bcm.edu	37	5	80639994	80639994	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:80639994C>T	ENST00000307624.3	-	9	993	c.965G>A	c.(964-966)cGa>cAa	p.R322Q	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	322					acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.R322Q(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TAGGCGAATTCGCTTGCGTGC	0.368																																					p.R322Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G965A	5						.						68.0	71.0	70.0					5																	80639994		2203	4300	6503	80675750	SO:0001583	missense	134526	exon9			AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.965G>A	5.37:g.80639994C>T	ENSP00000303246:p.Arg322Gln	Somatic		Capture	SOLID	Phase_I	80675750	NM_130767	B3KVK9|Q5FWE9	Missense_Mutation	SNP	ENST00000307624.3	37	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550015	0.65311	.	.	ENSG00000172497	ENST00000307624	T	0.27890	1.64	5.45	5.45	0.79879	.	0.111984	0.64402	D	0.000013	T	0.30823	0.0777	L	0.34521	1.04	0.80722	D	1	D	0.57571	0.98	P	0.51324	0.666	T	0.00989	-1.1489	10	0.27785	T	0.31	-5.5395	10.6459	0.45619	0.0:0.9126:0.0:0.0874	.	322	Q8WYK0	ACO12_HUMAN	Q	322	ENSP00000303246:R322Q	ENSP00000303246:R322Q	R	-	2	0	ACOT12	80675750	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	2.594000	0.46189	2.725000	0.93324	0.655000	0.94253	CGA		0.368	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767	
SSBP2	23635	hgsc.bcm.edu	37	5	80724498	80724498	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:80724498G>A	ENST00000320672.4	-	16	1172	c.962C>T	c.(961-963)tCt>tTt	p.S321F	SSBP2_ENST00000510060.1_5'UTR|SSBP2_ENST00000515395.1_Missense_Mutation_p.S299F|SSBP2_ENST00000514493.1_Missense_Mutation_p.S291F|SSBP2_ENST00000509053.1_Intron|SSBP2_ENST00000505980.1_Missense_Mutation_p.S301F	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	321					regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)	p.S321F(1)	SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		ATTATTGGGAGAATTCTGTAA	0.388																																					p.S321F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C962T	5						.						66.0	67.0	67.0					5																	80724498		2203	4299	6502	80760254	SO:0001583	missense	23635	exon16			AF077048	CCDS4056.1, CCDS58960.1, CCDS58961.1, CCDS58962.1, CCDS58963.1, CCDS75268.1	5q14.1	2012-05-25	2001-11-28		ENSG00000145687	ENSG00000145687			15831	protein-coding gene	gene with protein product		607389	"""single-stranded DNA-binding protein 2"""			11230166, 11042152	Standard	NM_001256732		Approved	HSPC116	uc003khp.4	P81877	OTTHUMG00000119039	ENST00000320672.4:c.962C>T	5.37:g.80724498G>A	ENSP00000322977:p.Ser321Phe	Somatic		Capture	SOLID	Phase_I	80760254	NM_012446	B2R5W1|B7Z1J2|B7Z2L9|B7Z665|D6RH18|E9PB74|E9PDA8|Q8N2Q2|Q9BWW6|Q9Y4T7	Missense_Mutation	SNP	ENST00000320672.4	37	CCDS4056.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749692	0.89753	.	.	ENSG00000145687	ENST00000320672;ENST00000514493;ENST00000380182;ENST00000504985;ENST00000512923;ENST00000505980;ENST00000515395	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.83801	0.5333	M	0.81942	2.565	0.80722	D	1	B;B;B;D;D	0.71674	0.019;0.186;0.044;0.996;0.998	B;B;B;D;D	0.83275	0.056;0.208;0.109;0.993;0.996	D	0.84752	0.0757	9	0.72032	D	0.01	-7.9042	20.096	0.97843	0.0:0.0:1.0:0.0	.	299;301;274;299;321	E9PB74;B7Z1J2;A6ND70;B7Z665;P81877	.;.;.;.;SSBP2_HUMAN	F	321;291;274;235;224;301;299	.	ENSP00000322977:S321F	S	-	2	0	SSBP2	80760254	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.384000	0.97219	2.819000	0.97034	0.650000	0.86243	TCT		0.388	SSBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239249.1	NM_012446	
ATP6AP1L	92270	hgsc.bcm.edu	37	5	81614014	81614014	+	Silent	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:81614014G>A	ENST00000380167.4	+	10	1895	c.570G>A	c.(568-570)tcG>tcA	p.S190S	ATP6AP1L_ENST00000508366.1_Intron|ATP6AP1L_ENST00000439350.1_Silent_p.S190S			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	190					ATP hydrolysis coupled proton transport (GO:0015991)	integral component of membrane (GO:0016021)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.S190S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						CCCACTTCTCGCAGCTGAAAG	0.527																																					p.S190S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G570A	5						.						62.0	65.0	64.0					5																	81614014		2203	4300	6503	81649770	SO:0001819	synonymous_variant	92270	exon4			AK022625	CCDS34196.1	5q14.2	2010-03-10				ENSG00000205464			28091	protein-coding gene	gene with protein product							Standard	XR_112744		Approved		uc003khw.3	Q52LC2		ENST00000380167.4:c.570G>A	5.37:g.81614014G>A		Somatic		Capture	SOLID	Phase_I	81649770	NM_001017971		Silent	SNP	ENST00000380167.4	37	CCDS34196.1																																																																																				0.527	ATP6AP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369562.3	NM_001017971	
VCAN	1462	hgsc.bcm.edu	37	5	82835327	82835327	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:82835327G>T	ENST00000265077.3	+	8	7070	c.6505G>T	c.(6505-6507)Gaa>Taa	p.E2169*	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Nonsense_Mutation_p.E1182*|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2169	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.E2169*(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TGATGATAAAGAAATGAAGGA	0.353																																					p.E1182X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3544T	5						.						52.0	52.0	52.0					5																	82835327		2202	4300	6502	82871083	SO:0001587	stop_gained	1462	exon7			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.6505G>T	5.37:g.82835327G>T	ENSP00000265077:p.Glu2169*	Somatic		Capture	SOLID	Phase_I	82871083	NM_001164097	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Nonsense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	48	14.419350	0.99794	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	.	.	.	5.91	0.665	0.17896	.	0.384998	0.25127	N	0.032922	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	6.546	0.22406	0.2581:0.205:0.5368:0.0	.	.	.	.	X	2169;1182;1182	.	ENSP00000265077:E2169X	E	+	1	0	VCAN	82871083	0.998000	0.40836	0.009000	0.14445	0.031000	0.12232	1.527000	0.35975	0.055000	0.16094	-0.136000	0.14681	GAA		0.353	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
TTC37	9652	hgsc.bcm.edu	37	5	94805599	94805599	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:94805599C>A	ENST00000358746.2	-	41	4679	c.4381G>T	c.(4381-4383)Gat>Tat	p.D1461Y		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1461						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)		p.D1461Y(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						GGCCAGTGATCATTGGAAATG	0.318																																					p.D1461Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4381T	5						.						54.0	58.0	57.0					5																	94805599		2203	4300	6503	94831355	SO:0001583	missense	9652	exon41			AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.4381G>T	5.37:g.94805599C>A	ENSP00000351596:p.Asp1461Tyr	Somatic		Capture	SOLID	Phase_I	94831355	NM_014639	O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210124	0.39003	.	.	ENSG00000198677	ENST00000358746	T	0.78707	-1.2	5.06	3.29	0.37713	.	0.371098	0.31051	N	0.008342	T	0.71126	0.3303	L	0.47716	1.5	0.28960	N	0.889867	B	0.32128	0.357	B	0.36418	0.224	T	0.67321	-0.5700	10	0.72032	D	0.01	.	8.8332	0.35096	0.0:0.769:0.0:0.231	.	1461	Q6PGP7	TTC37_HUMAN	Y	1461	ENSP00000351596:D1461Y	ENSP00000351596:D1461Y	D	-	1	0	TTC37	94831355	1.000000	0.71417	0.931000	0.37212	0.969000	0.65631	1.126000	0.31344	0.552000	0.29026	0.484000	0.47621	GAT		0.318	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639	
PCSK1	5122	hgsc.bcm.edu	37	5	95746639	95746639	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:95746639G>A	ENST00000311106.3	-	8	1171	c.934C>T	c.(934-936)Cgt>Tgt	p.R312C	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.R265C|PCSK1_ENST00000513085.1_Intron	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	312	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.R312C(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TCTCCCTGACGCCCCCCGTTT	0.532																																					p.R265C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C793T	5						.						184.0	170.0	175.0					5																	95746639		2203	4300	6503	95772395	SO:0001583	missense	5122	exon8				CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.934C>T	5.37:g.95746639G>A	ENSP00000308024:p.Arg312Cys	Somatic		Capture	SOLID	Phase_I	95772395	NM_001177875	B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804199	0.90623	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	D;D	0.88046	-2.33;-2.33	5.62	5.62	0.85841	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.93125	0.7811	M	0.73430	2.235	0.80722	D	1	D	0.89917	1.0	D	0.66084	0.941	D	0.93514	0.6855	10	0.87932	D	0	-12.4163	19.2542	0.93940	0.0:0.0:1.0:0.0	.	312	P29120	NEC1_HUMAN	C	312;265	ENSP00000308024:R312C;ENSP00000421600:R265C	ENSP00000308024:R312C	R	-	1	0	PCSK1	95772395	1.000000	0.71417	0.613000	0.29037	0.889000	0.51656	4.865000	0.62998	2.631000	0.89168	0.650000	0.86243	CGT		0.532	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439	
LIX1	167410	hgsc.bcm.edu	37	5	96443177	96443177	+	Missense_Mutation	SNP	G	G	A	rs376614473		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:96443177G>A	ENST00000274382.4	-	3	569	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	92								p.R92W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		GCTGCATCCCGCCTGGCCTCG	0.493																																					p.R92W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C274T	5						.	G	TRP/ARG	0,4406		0,0,2203	96.0	88.0	91.0		274	3.2	1.0	5		91	1,8599	1.2+/-3.3	0,1,4299	no	missense	LIX1	NM_153234.4	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	92/283	96443177	1,13005	2203	4300	6503	96468933	SO:0001583	missense	167410	exon3				CCDS4088.1	5q15	2008-03-06	2008-03-06	2005-02-07	ENSG00000145721	ENSG00000145721			18581	protein-coding gene	gene with protein product		610466	"""chromosome 5 open reading frame 11"", ""Lix1 homolog (mouse)"""	C5orf11		11731258	Standard	NM_153234		Approved		uc003kmy.4	Q8N485	OTTHUMG00000128720	ENST00000274382.4:c.274C>T	5.37:g.96443177G>A	ENSP00000274382:p.Arg92Trp	Somatic		Capture	SOLID	Phase_I	96468933	NM_153234	A8K4R9|Q8N7I2	Missense_Mutation	SNP	ENST00000274382.4	37	CCDS4088.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024036	0.75390	0.0	1.16E-4	ENSG00000145721	ENST00000274382	T	0.58060	0.36	6.17	3.23	0.37069	.	0.000000	0.85682	D	0.000000	T	0.70535	0.3235	M	0.71206	2.165	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.75085	-0.3442	10	0.87932	D	0	-18.682	14.9491	0.71057	0.0:0.0:0.4407:0.5593	.	92	Q8N485	LIX1_HUMAN	W	92	ENSP00000274382:R92W	ENSP00000274382:R92W	R	-	1	2	LIX1	96468933	0.986000	0.35501	0.983000	0.44433	0.885000	0.51271	1.687000	0.37680	0.890000	0.36211	-0.182000	0.12963	CGG		0.493	LIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250625.1	NM_153234	
CLK4	57396	hgsc.bcm.edu	37	5	178040638	178040638	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr5:178040638C>T	ENST00000316308.4	-	7	830	c.662G>A	c.(661-663)cGa>cAa	p.R221Q		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R221Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		CTGGACACATCGGCTAAAACA	0.338																																					p.R221Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G662A	5						.						98.0	97.0	97.0					5																	178040638		2203	4300	6503	177973244	SO:0001583	missense	57396	exon7			AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"""CDC-like kinases"""	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.662G>A	5.37:g.178040638C>T	ENSP00000316948:p.Arg221Gln	Somatic		Capture	SOLID	Phase_I	177973244	NM_020666		Missense_Mutation	SNP	ENST00000316308.4	37	CCDS4437.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606533	0.66445	.	.	ENSG00000113240	ENST00000316308;ENST00000536763	T	0.19938	2.11	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.347571	0.30911	N	0.008631	T	0.26412	0.0645	L	0.37507	1.11	0.80722	D	1	D;D;D	0.71674	0.998;0.992;0.992	P;P;P	0.50082	0.585;0.63;0.63	T	0.00731	-1.1590	10	0.41790	T	0.15	.	16.4975	0.84249	0.0:1.0:0.0:0.0	.	221;221;221	B7ZL31;B9EG64;Q9HAZ1	.;.;CLK4_HUMAN	Q	221	ENSP00000316948:R221Q	ENSP00000316948:R221Q	R	-	2	0	CLK4	177973244	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.317000	0.65822	2.478000	0.83669	0.591000	0.81541	CGA		0.338	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2		
TGFB1	7040	hgsc.bcm.edu	37	19	41850770	41850770	+	Splice_Site	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr19:41850770C>A	ENST00000221930.5	-	3	1383		c.e3-1			NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1						active induction of host immune response by virus (GO:0046732)|adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains (GO:0002460)|aging (GO:0007568)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|branch elongation involved in mammary gland duct branching (GO:0060751)|cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cell-cell junction organization (GO:0045216)|cellular calcium ion homeostasis (GO:0006874)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation (GO:0002062)|common-partner SMAD protein phosphorylation (GO:0007182)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|defense response to fungus, incompatible interaction (GO:0009817)|digestive tract development (GO:0048565)|embryo development (GO:0009790)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|evasion or tolerance of host defenses by virus (GO:0019049)|extracellular matrix assembly (GO:0085029)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|face morphogenesis (GO:0060325)|female pregnancy (GO:0007565)|frontal suture morphogenesis (GO:0060364)|germ cell migration (GO:0008354)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymph node development (GO:0048535)|macrophage derived foam cell differentiation (GO:0010742)|mammary gland branching involved in thelarche (GO:0060744)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|modulation by virus of host morphology or physiology (GO:0019048)|mononuclear cell proliferation (GO:0032943)|myelination (GO:0042552)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA replication (GO:0008156)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of extracellular matrix disassembly (GO:0010716)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of ossification (GO:0030279)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|ossification involved in bone remodeling (GO:0043932)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|phosphate-containing compound metabolic process (GO:0006796)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgA isotypes (GO:0048298)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NAD+ ADP-ribosyltransferase activity (GO:1901666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of odontogenesis (GO:0042482)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein secretion (GO:0050714)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein export from nucleus (GO:0006611)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|receptor catabolic process (GO:0032801)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of binding (GO:0051098)|regulation of blood vessel remodeling (GO:0060312)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of cartilage development (GO:0061035)|regulation of cell migration (GO:0030334)|regulation of DNA binding (GO:0051101)|regulation of miRNA metabolic process (GO:2000628)|regulation of protein import into nucleus (GO:0042306)|regulation of sodium ion transport (GO:0002028)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulatory T cell differentiation (GO:0045066)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to laminar fluid shear stress (GO:0034616)|response to progesterone (GO:0032570)|response to radiation (GO:0009314)|response to vitamin D (GO:0033280)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|T cell homeostasis (GO:0043029)|tolerance induction to self antigen (GO:0002513)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|viral life cycle (GO:0019058)	axon (GO:0030424)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	antigen binding (GO:0003823)|cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|type II transforming growth factor beta receptor binding (GO:0005114)	p.?(1)		endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	TGCTGTATTTCTAGAGGATGA	0.537																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	19						.						68.0	47.0	54.0					19																	41850770		2203	4300	6503	46542610	SO:0001630	splice_region_variant	7040	.			X02812	CCDS33031.1	19q13.1	2014-01-30	2007-02-16			ENSG00000105329		"""Endogenous ligands"""	11766	protein-coding gene	gene with protein product	"""Camurati-Engelmann disease"", ""prepro-transforming growth factor beta-1"""	190180		TGFB, DPD1		10631145, 10843814	Standard	NM_000660		Approved	CED, TGFbeta	uc002oqh.2	P01137		ENST00000221930.5:c.517-1G>T	19.37:g.41850770C>A		Somatic		Capture	SOLID	Phase_I	46542610	.	A8K792|Q9UCG4	Splice_Site	SNP	ENST00000221930.5	37	CCDS33031.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628496	0.67015	.	.	ENSG00000105329	ENST00000221930	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5545	0.68091	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TGFB1	46542610	0.993000	0.37304	1.000000	0.80357	0.898000	0.52572	1.425000	0.34859	2.814000	0.96858	0.655000	0.94253	.		0.537	TGFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463500.2		Intron
HLA-B	3106	hgsc.bcm.edu	37	6	31323093	31323093	+	Splice_Site	SNP	C	C	A	rs111351373|rs281864645|rs151341388		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:31323093C>A	ENST00000412585.2	-	4	924		c.e4+1			NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B						antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)	p.?(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CCCCTCCTTACCCCATCTCAG	0.592									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																												.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						53.0	52.0	53.0					6																	31323093		2203	4300	6503	31431072	SO:0001630	splice_region_variant	3106	.	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.895+1G>T	6.37:g.31323093C>A		Somatic		Capture	SOLID	Phase_I	31431072	.	Q29764	Splice_Site	SNP	ENST00000412585.2	37	CCDS34394.1	.	.	.	.	.	.	.	.	.	.	.	12.92	2.083874	0.36758	.	.	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596	.	.	.	3.16	3.16	0.36331	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0621	0.42282	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HLA-B	31431072	0.409000	0.25368	0.998000	0.56505	0.698000	0.40448	0.120000	0.15647	1.804000	0.52760	0.442000	0.29010	.		0.592	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514	Intron
LAMA4	3910	hgsc.bcm.edu	37	6	112508651	112508651	+	Splice_Site	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr6:112508651C>T	ENST00000230538.7	-	8	1364		c.e8+1		LAMA4_ENST00000389463.4_Splice_Site|LAMA4_ENST00000424408.2_Splice_Site|LAMA4_ENST00000522006.1_Splice_Site	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4						blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.?(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTCCTGCGTACTTTGAGGAGG	0.517																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						138.0	121.0	127.0					6																	112508651		2203	4300	6503	112615344	SO:0001630	splice_region_variant	3910	.				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.966+1G>A	6.37:g.112508651C>T		Somatic		Capture	SOLID	Phase_I	112615344	.	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Splice_Site	SNP	ENST00000230538.7	37	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.534676	0.45073	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000521732;ENST00000368640;ENST00000454881;ENST00000521398;ENST00000542588	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.027	0.97525	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LAMA4	112615344	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	6.055000	0.71103	2.744000	0.94065	0.650000	0.86243	.		0.517	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206	Intron
MNS1	55329	hgsc.bcm.edu	37	15	56736872	56736872	+	Splice_Site	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr15:56736872C>A	ENST00000260453.3	-	5	621		c.e5-1		TEX9_ENST00000537232.1_Intron|TEX9_ENST00000352903.2_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1						cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)	p.?(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		CATCACGTTTCTGTTATTAAA	0.308																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	15						.						216.0	209.0	212.0					15																	56736872		2192	4292	6484	54524164	SO:0001630	splice_region_variant	55329	.			AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"""spermatogenesis associated 40"""	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.457-1G>T	15.37:g.56736872C>A		Somatic		Capture	SOLID	Phase_I	54524164	.	Q8IYT6|Q9NUP4	Splice_Site	SNP	ENST00000260453.3	37	CCDS10158.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621590	0.87460	.	.	ENSG00000138587	ENST00000260453	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0636	0.93101	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MNS1	54524164	1.000000	0.71417	0.988000	0.46212	0.985000	0.73830	6.912000	0.75753	2.747000	0.94245	0.643000	0.83706	.		0.308	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365	Intron
HCN4	10021	hgsc.bcm.edu	37	15	73622133	73622133	+	Splice_Site	SNP	C	C	T			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr15:73622133C>T	ENST00000261917.3	-	4	2365		c.e4-1			NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4						blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.?(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		AGGAGTTGTTCTGTGGACAGA	0.602																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	15						.						83.0	81.0	81.0					15																	73622133		2198	4297	6495	71409186	SO:0001630	splice_region_variant	10021	.			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1372-1G>A	15.37:g.73622133C>T		Somatic		Capture	SOLID	Phase_I	71409186	.	Q9UMQ7	Splice_Site	SNP	ENST00000261917.3	37	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437206	0.83885	.	.	ENSG00000138622	ENST00000261917	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9061	0.86128	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HCN4	71409186	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.684000	0.84104	2.139000	0.66308	0.561000	0.74099	.		0.602	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477	Intron
PTPRN	5798	hgsc.bcm.edu	37	2	220168554	220168554	+	Splice_Site	SNP	C	C	A			TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr2:220168554C>A	ENST00000295718.2	-	4	521		c.e4-1		PTPRN_ENST00000409251.3_Splice_Site|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Splice_Site	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N						cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.?(2)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CAGGACAATCCTGTCAGGAAA	0.587																																					.												.	.	2	Unknown(2)	large_intestine(1)|skin(1)	.	2						.						60.0	55.0	56.0					2																	220168554		2203	4300	6503	219876798	SO:0001630	splice_region_variant	5798	.				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.281-1G>T	2.37:g.220168554C>A		Somatic		Capture	SOLID	Phase_I	219876798	.	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Splice_Site	SNP	ENST00000295718.2	37	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951906	0.53293	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666;ENST00000536579;ENST00000412847;ENST00000446182;ENST00000440552;ENST00000442029;ENST00000451506	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2534	0.82498	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPRN	219876798	1.000000	0.71417	0.999000	0.59377	0.580000	0.36256	6.544000	0.73878	2.366000	0.80165	0.298000	0.19748	.		0.587	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2		Intron
CTSL3P	392360	hgsc.bcm.edu	37	9	90388407	90388407	+	RNA	SNP	G	G	A	rs376833660		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr9:90388407G>A	ENST00000354530.2	+	0	273					NR_027917.1		Q5NE16	CATL3_HUMAN	cathepsin L family member 3, pseudogene								cysteine-type peptidase activity (GO:0008234)	p.E91E(1)									GGAAAACTGAGAAACTAGTTT	0.413																																					.												.	.	1	Substitution - coding silent(1)	large_intestine(1)	.	9						.	G		0,4406		0,0,2203	127.0	120.0	122.0			0.8	0.1	9		122	1,8599	1.2+/-3.3	0,1,4299	no	intergenic				0,1,6502	AA,AG,GG		0.0116,0.0,0.0077			90388407	1,13005	2203	4300	6503	89578227			392360	.			AJ851862		9q21.33	2013-01-07	2013-01-07	2013-01-07	ENSG00000188029	ENSG00000188029		"""Cathepsins"""	33132	pseudogene	pseudogene			"""cathepsin L family member 3"""	CTSL3		19663681	Standard	NR_027917		Approved	HCTSL-s	uc004apm.1	Q5NE16	OTTHUMG00000020152		9.37:g.90388407G>A		Somatic		Capture	SOLID	Phase_I	89578227	.		Silent	SNP	ENST00000354530.2	37																																																																																					0.413	CTSL3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000356542.1	NR_027917	
CFAP46	54777	hgsc.bcm.edu	37	10	134650401	134650401	+	Silent	SNP	G	G	A	rs140735589		TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.	.	.	Illumina GAIIx	TCGA-AA-3555-01A-01W-0831-10	TCGA-AA-3555-10A-01W-0831-10	g.chr10:134650401G>A	ENST00000368586.5	-	45	6556	c.6456C>T	c.(6454-6456)tgC>tgT	p.C2152C	TTC40_ENST00000263170.5_Silent_p.C313C	NM_001200049.2	NP_001186978.2												p.C313C(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GCTCAGTGACGCAGAGATTTT	0.527																																					.												.	.	1	Substitution - coding silent(1)	large_intestine(1)	.	10						.	G		0,4406		0,0,2203	120.0	104.0	110.0		1392	-2.4	1.0	10	dbSNP_134	110	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	C10orf92	NM_001200049.1		0,5,6498	AA,AG,GG		0.0581,0.0,0.0384		464/1028	134650401	5,13001	2203	4300	6503	134500391	SO:0001819	synonymous_variant	54777	.																														ENST00000368586.5:c.6456C>T	10.37:g.134650401G>A		Somatic		Capture	SOLID	Phase_I	134500391	.		Silent	SNP	ENST00000368586.5	37	CCDS58101.1																																																																																				0.527	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3		
