#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_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_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_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_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_classification	i_context	i_dataset	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	i_type
ACVR2B	93	hgsc.bcm.edu	37	3	38520697	38520697	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1407-01	TCGA-13-1407-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chr3:38520697G>C	ENST00000352511.4	+	6	1217	c.745G>C	c.(745-747)Gct>Cct	p.A249P		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	249	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		ACAGTTCATTGCTGCCGAGAA	0.577																																																0			3											188.0	175.0	180.0					3																	38520697		2203	4300	6503	38495701	SO:0001583	missense	93			X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.745G>C	3.37:g.38520697G>C	ENSP00000340361:p.Ala249Pro	Somatic		Capture	SOLID	Phase_IV	38495701	Q4VAV0	Missense_Mutation	SNP	ENST00000352511.4	37	CCDS2679.1	SNP	46	Baylor	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652068	0.88056	.	.	ENSG00000114739	ENST00000352511	D	0.93659	-3.26	4.93	4.93	0.64822	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052392	0.85682	D	0.000000	D	0.95793	0.8631	L	0.58810	1.83	0.80722	D	1	D	0.63046	0.992	D	0.68621	0.959	D	0.96215	0.9156	10	0.87932	D	0	.	18.3287	0.90261	0.0:0.0:1.0:0.0	.	249	Q13705	AVR2B_HUMAN	P	249	ENSP00000340361:A249P	ENSP00000340361:A249P	A	+	1	0	ACVR2B	38495701	1.000000	0.71417	0.992000	0.48379	0.957000	0.61999	7.611000	0.82962	2.546000	0.85860	0.563000	0.77884	GCT		0.577	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254059.3	NM_001106		Missense_Mutation
CASP5	838	hgsc.bcm.edu	37	11	104878041	104878041	+	Frame_Shift_Del	DEL	T	T	-	rs144697764		TCGA-13-1407-01	TCGA-13-1407-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chr11:104878041delT	ENST00000260315.3	-	3	201	c.202delA	c.(202-204)acafs	p.T68fs	CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393141.2_Frame_Shift_Del_p.T81fs|CASP5_ENST00000526056.1_Frame_Shift_Del_p.T81fs|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000393139.2_Frame_Shift_Del_p.T35fs|CASP5_ENST00000444749.2_Frame_Shift_Del_p.T10fs			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	68	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.T52fs*26(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		ATCTTAACTGTTTTTTTTTTG	0.358																																																1	Deletion - Frameshift(1)	ovary(1)	11							,,,	386,251,42,3585		1,0,1,383,0,0,251,0,41,1455	104.0	101.0	102.0		,,,	-2.3	0.0	11	dbSNP_132	106	651,407,1,7195		0,0,0,651,0,0,407,0,1,3068	no	codingComplex,codingComplex,intron,codingComplex	CASP5	NM_004347.3,NM_001136112.1,NM_001136110.1,NM_001136109.1	,,,	1,0,1,1034,0,0,658,0,42,4523	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		12.8301,15.924,13.884	,,,	,,,	104878041	1037,658,43,10780	2202	4299	6501	104383251	SO:0001589	frameshift_variant	838				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.202delA	11.37:g.104878041delT	ENSP00000260315:p.Thr68fs	Somatic		Capture	SOLID	Phase_IV	104383251	B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Frame_Shift_Del	DEL	ENST00000260315.3	37	CCDS8328.2	DEL	60	Baylor																																																																																				0.358	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347		Frame_Shift_Del
ARHGEF12	23365	hgsc.bcm.edu	37	11	120335957	120335957	+	Silent	SNP	A	A	T			TCGA-13-1407-01	TCGA-13-1407-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chr11:120335957A>T	ENST00000397843.2	+	28	2791	c.2625A>T	c.(2623-2625)ccA>ccT	p.P875P	ARHGEF12_ENST00000356641.3_Silent_p.P856P|ARHGEF12_ENST00000532993.1_Silent_p.P772P	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	875	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|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)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P875P(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TCAGCGGACCAGGAGAGGAGA	0.433			T	MLL	AML																																		Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	1	Substitution - coding silent(1)	ovary(1)	11											111.0	112.0	112.0					11																	120335957		1993	4182	6175	119841167	SO:0001819	synonymous_variant	23365			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.2625A>T	11.37:g.120335957A>T		Somatic		Capture	SOLID	Phase_IV	119841167	O15086|Q6P526	Silent	SNP	ENST00000397843.2	37	CCDS41727.1	SNP	7	Baylor																																																																																				0.433	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		Silent
CLN6	54982	hgsc.bcm.edu	37	15	68506674	68506674	+	Frame_Shift_Del	DEL	T	T	-			TCGA-13-1407-01	TCGA-13-1407-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chr15:68506674delT	ENST00000249806.5	-	3	408	c.251delA	c.(250-252)tacfs	p.Y84fs	CLN6_ENST00000538696.1_Frame_Shift_Del_p.Y116fs|CLN6_ENST00000418702.2_Frame_Shift_Del_p.T50fs|CLN6_ENST00000565471.1_Intron|CLN6_ENST00000564752.1_Frame_Shift_Del_p.Y84fs|CLN6_ENST00000566347.1_Frame_Shift_Del_p.Y84fs|RP11-315D16.2_ENST00000562767.1_Intron	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	84					cell death (GO:0008219)|cellular macromolecule catabolic process (GO:0044265)|cholesterol metabolic process (GO:0008203)|ganglioside metabolic process (GO:0001573)|glycosaminoglycan metabolic process (GO:0030203)|locomotion involved in locomotory behavior (GO:0031987)|lysosomal lumen acidification (GO:0007042)|positive regulation of proteolysis (GO:0045862)|protein catabolic process (GO:0030163)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.Y84fs*32(1)		large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CATGTGGAAGTAGTCCCCAAC	0.572																																																1	Deletion - Frameshift(1)	ovary(1)	15											224.0	168.0	187.0					15																	68506674		2200	4298	6498	66293728	SO:0001589	frameshift_variant	54982			AK000568	CCDS10227.1	15q23	2014-09-17			ENSG00000128973	ENSG00000128973			2077	protein-coding gene	gene with protein product		606725				9097964, 11727201	Standard	NM_017882		Approved	FLJ20561, HsT18960, nclf	uc002arf.3	Q9NWW5	OTTHUMG00000133286	ENST00000249806.5:c.251delA	15.37:g.68506674delT	ENSP00000249806:p.Tyr84fs	Somatic		Capture	SOLID	Phase_IV	66293728	A8K560|B4DDH6|Q6IAB1|Q96SR0	Frame_Shift_Del	DEL	ENST00000249806.5	37	CCDS10227.1	DEL	57	Baylor																																																																																				0.572	CLN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257066.1	NM_017882		Frame_Shift_Del
CNTNAP5	129684	hgsc.bcm.edu	37	2	125281883	125281883	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1407-01	TCGA-13-1407-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chr2:125281883G>A	ENST00000431078.1	+	9	1692	c.1328G>A	c.(1327-1329)aGc>aAc	p.S443N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	443	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.S443N(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTTGCAGGCAGCAACTTGAAT	0.552																																																1	Substitution - Missense(1)	ovary(1)	2											71.0	75.0	74.0					2																	125281883		2073	4223	6296	124998353	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1328G>A	2.37:g.125281883G>A	ENSP00000399013:p.Ser443Asn	Somatic		Capture	SOLID	Phase_IV	124998353	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	SNP	34	Baylor	.	.	.	.	.	.	.	.	.	.	G	15.26	2.779469	0.49891	.	.	ENSG00000155052	ENST00000431078	T	0.78003	-1.14	5.94	4.03	0.46877	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.104145	0.42548	D	0.000690	T	0.74512	0.3726	L	0.49350	1.555	0.26194	N	0.979542	P	0.40970	0.734	B	0.43575	0.424	T	0.65100	-0.6250	10	0.18276	T	0.48	.	15.6375	0.76966	0.0:0.354:0.646:0.0	.	443	Q8WYK1	CNTP5_HUMAN	N	443	ENSP00000399013:S443N	ENSP00000399013:S443N	S	+	2	0	CNTNAP5	124998353	0.968000	0.33430	0.998000	0.56505	0.983000	0.72400	1.710000	0.37920	1.504000	0.48704	0.650000	0.86243	AGC		0.552	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			Missense_Mutation
CSMD1	64478	hgsc.bcm.edu	37	8	3266999	3266999	+	Frame_Shift_Del	DEL	C	C	-	rs201699633		TCGA-13-1407-01	TCGA-13-1407-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chr8:3266999delC	ENST00000520002.1	-	14	2248	c.1693delG	c.(1693-1695)gttfs	p.V565fs	CSMD1_ENST00000602557.1_Frame_Shift_Del_p.V565fs|CSMD1_ENST00000537824.1_Frame_Shift_Del_p.V564fs|CSMD1_ENST00000539096.1_Frame_Shift_Del_p.V564fs|CSMD1_ENST00000602723.1_Frame_Shift_Del_p.V565fs|CSMD1_ENST00000400186.3_Frame_Shift_Del_p.V565fs|CSMD1_ENST00000542608.1_Frame_Shift_Del_p.V564fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	565	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.V564F(1)|p.V293fs*45(1)|p.V293F(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGGTGATAACTCTCTCCCCC	0.552																																																3	Substitution - Missense(2)|Deletion - Frameshift(1)	lung(2)|ovary(1)	8											48.0	48.0	48.0					8																	3266999		1952	4155	6107	3254406	SO:0001589	frameshift_variant	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1693delG	8.37:g.3266999delC	ENSP00000430733:p.Val565fs	Somatic		Capture	SOLID	Phase_IV	3254406	Q0H0J5|Q96QU9|Q96RM4	Frame_Shift_Del	DEL	ENST00000520002.1	37		DEL	20	Baylor																																																																																				0.552	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		Frame_Shift_Del
CUBN	8029	hgsc.bcm.edu	37	10	16967769	16967769	+	Silent	SNP	G	G	A	rs146319349	byFrequency	TCGA-13-1407-01	TCGA-13-1407-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chr10:16967769G>A	ENST00000377833.4	-	42	6341	c.6276C>T	c.(6274-6276)tgC>tgT	p.C2092C		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2092	CUB 15. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.C2092C(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AATATCCACCGCAGCCTTCCC	0.458													G|||	18	0.00359425	0.0008	0.0101	5008	,	,		17747	0.0		0.0089	False		,,,				2504	0.001															1	Substitution - coding silent(1)	ovary(1)	10						G		4,4402	8.1+/-20.4	0,4,2199	64.0	54.0	57.0		6276	1.0	1.0	10	dbSNP_134	57	38,8562	25.7+/-73.6	0,38,4262	no	coding-synonymous	CUBN	NM_001081.3		0,42,6461	AA,AG,GG		0.4419,0.0908,0.3229		2092/3624	16967769	42,12964	2203	4300	6503	17007775	SO:0001819	synonymous_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6276C>T	10.37:g.16967769G>A		Somatic		Capture	SOLID	Phase_IV	17007775	B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1	SNP	38	Baylor																																																																																				0.458	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		Silent
DGKK	139189	hgsc.bcm.edu	37	X	50167292	50167293	+	RNA	INS	-	-	A			TCGA-13-1407-01	TCGA-13-1407-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chrX:50167292_50167293insA	ENST00000376025.2	-	0	768_769							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AACCAGAAAATATCTAAGCTTC	0.401																																																0			X																																								50184033			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50167293_50167293dupA		Somatic		Capture	SOLID	Phase_IV	50184032	B2RP91	Frame_Shift_Ins	INS	ENST00000376025.2	37		INS	49	Baylor																																																																																				0.401	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		Frame_Shift_Ins
DKK2	27123	hgsc.bcm.edu	37	4	107845721	107845721	+	Silent	SNP	A	A	T			TCGA-13-1407-01	TCGA-13-1407-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chr4:107845721A>T	ENST00000285311.3	-	3	1215	c.510T>A	c.(508-510)acT>acA	p.T170T	DKK2_ENST00000510463.1_Silent_p.T124T|DKK2_ENST00000513208.1_Silent_p.T70T	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	170					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)		p.T170T(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GTGACATCTTAGTGTGTGGTC	0.383																																																1	Substitution - coding silent(1)	ovary(1)	4											200.0	177.0	185.0					4																	107845721		2203	4300	6503	108065170	SO:0001819	synonymous_variant	27123			AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.510T>A	4.37:g.107845721A>T		Somatic		Capture	SOLID	Phase_IV	108065170	A0AVE9|B2R6S7|Q9UIU3	Silent	SNP	ENST00000285311.3	37	CCDS3675.1	SNP	15	Baylor																																																																																				0.383	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			Silent
DNAH11	8701	hgsc.bcm.edu	37	7	21609827	21609827	+	Silent	SNP	T	T	C	rs376831401		TCGA-13-1407-01	TCGA-13-1407-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chr7:21609827T>C	ENST00000409508.3	+	7	1366	c.1335T>C	c.(1333-1335)ttT>ttC	p.F445F	DNAH11_ENST00000328843.6_Silent_p.F445F	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	445	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.F445F(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAAGCTACTTTATGGGAAGAA	0.348									Kartagener syndrome																																							1	Substitution - coding silent(1)	ovary(1)	7						T		0,3612		0,0,1806	79.0	79.0	79.0		1335	0.6	0.0	7		79	1,8147		0,1,4073	no	coding-synonymous	DNAH11	NM_003777.3		0,1,5879	CC,CT,TT		0.0123,0.0,0.0085		445/4524	21609827	1,11759	1806	4074	5880	21576352	SO:0001819	synonymous_variant	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.1335T>C	7.37:g.21609827T>C		Somatic		Capture	SOLID	Phase_IV	21576352	Q9UJ82	Silent	SNP	ENST00000409508.3	37		SNP	61	Baylor																																																																																				0.348	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		Silent
FAT3	120114	hgsc.bcm.edu	37	11	92592429	92592429	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1407-01	TCGA-13-1407-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chr11:92592429A>G	ENST00000298047.6	+	20	11616	c.11599A>G	c.(11599-11601)Aca>Gca	p.T3867A	FAT3_ENST00000525166.1_Missense_Mutation_p.T3717A|FAT3_ENST00000533797.1_Missense_Mutation_p.T202A|FAT3_ENST00000409404.2_Missense_Mutation_p.T3867A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3867	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T442A(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCGTCTTCGAACACTGCAAAG	0.393										TCGA Ovarian(4;0.039)																																						1	Substitution - Missense(1)	ovary(1)	11											86.0	82.0	83.0					11																	92592429		1853	4097	5950	92232077	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11599A>G	11.37:g.92592429A>G	ENSP00000298047:p.Thr3867Ala	Somatic		Capture	SOLID	Phase_IV	92232077	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		SNP	2	Baylor	.	.	.	.	.	.	.	.	.	.	A	24.5	4.535261	0.85812	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	5.15	5.15	0.70609	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.92750	0.7695	M	0.84585	2.705	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.85130	0.997;0.973	D	0.93527	0.6866	9	0.56958	D	0.05	.	15.271	0.73702	1.0:0.0:0.0:0.0	.	3867;3867	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	A	3867;3867;3717;202	ENSP00000298047:T3867A;ENSP00000387040:T3867A;ENSP00000432586:T3717A;ENSP00000436399:T202A	ENSP00000298047:T3867A	T	+	1	0	FAT3	92232077	1.000000	0.71417	0.951000	0.38953	0.982000	0.71751	8.832000	0.92079	2.086000	0.62901	0.533000	0.62120	ACA		0.393	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		Missense_Mutation
FAT3	120114	hgsc.bcm.edu	37	11	92592450	92592450	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1407-01	TCGA-13-1407-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chr11:92592450A>T	ENST00000298047.6	+	20	11637	c.11620A>T	c.(11620-11622)Ata>Tta	p.I3874L	FAT3_ENST00000525166.1_Missense_Mutation_p.I3724L|FAT3_ENST00000533797.1_Missense_Mutation_p.I209L|FAT3_ENST00000409404.2_Missense_Mutation_p.I3874L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3874	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I449L(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAATGGGATTATAATGTACAC	0.383										TCGA Ovarian(4;0.039)																																						1	Substitution - Missense(1)	ovary(1)	11											80.0	76.0	77.0					11																	92592450		1858	4097	5955	92232098	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11620A>T	11.37:g.92592450A>T	ENSP00000298047:p.Ile3874Leu	Somatic		Capture	SOLID	Phase_IV	92232098	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		SNP	16	Baylor	.	.	.	.	.	.	.	.	.	.	A	16.29	3.081172	0.55753	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.05	2.44	0.29823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.40743	0.1129	N	0.17082	0.46	0.80722	D	1	B;B	0.15473	0.013;0.001	B;B	0.21360	0.034;0.006	T	0.15378	-1.0439	9	0.07325	T	0.83	.	11.3968	0.49847	0.7128:0.2872:0.0:0.0	.	3874;3874	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	L	3874;3874;3724;209	ENSP00000298047:I3874L;ENSP00000387040:I3874L;ENSP00000432586:I3724L;ENSP00000436399:I209L	ENSP00000298047:I3874L	I	+	1	0	FAT3	92232098	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	4.758000	0.62220	0.832000	0.34804	0.533000	0.62120	ATA		0.383	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		Missense_Mutation
CLDN25	644672	hgsc.bcm.edu	37	11	113650550	113650551	+	Frame_Shift_Ins	INS	-	-	G	rs367566026		TCGA-13-1407-01	TCGA-13-1407-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chr11:113650550_113650551insG	ENST00000453129.2	+	1	82_83	c.33_34insG	c.(34-36)gggfs	p.G12fs		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.L14fs*24(1)		large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						AAGTCCAGCTCGGGGGGCTACT	0.55																																																1	Insertion - Frameshift(1)	ovary(1)	11																																								113155761	SO:0001589	frameshift_variant	644672				CCDS44736.1	11q23.2	2009-09-22			ENSG00000228607	ENSG00000228607			37218	protein-coding gene	gene with protein product							Standard	NM_001101389		Approved		uc009yyw.1	C9JDP6	OTTHUMG00000168193	ENST00000453129.2:c.39dupG	11.37:g.113650556_113650556dupG	ENSP00000396304:p.Gly12fs	Somatic		Capture	SOLID	Phase_IV	113155760		Frame_Shift_Ins	INS	ENST00000453129.2	37	CCDS44736.1	INS	31	Baylor																																																																																				0.550	CLDN25-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398706.1	NM_001101389		Frame_Shift_Ins
KCNH5	27133	hgsc.bcm.edu	37	14	63174535	63174535	+	Silent	SNP	C	C	T			TCGA-13-1407-01	TCGA-13-1407-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chr14:63174535C>T	ENST00000322893.7	-	11	2926	c.2658G>A	c.(2656-2658)gaG>gaA	p.E886E	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	886					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.E886E(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)		TGGGACTGTGCTCTAGCGGAC	0.502																																																1	Substitution - coding silent(1)	ovary(1)	14											129.0	115.0	120.0					14																	63174535		2203	4300	6503	62244288	SO:0001819	synonymous_variant	27133			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.2658G>A	14.37:g.63174535C>T		Somatic		Capture	SOLID	Phase_IV	62244288	C9JP98	Silent	SNP	ENST00000322893.7	37	CCDS9756.1	SNP	28	Baylor																																																																																				0.502	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		Silent
MAK16	84549	hgsc.bcm.edu	37	8	33346510	33346510	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1407-01	TCGA-13-1407-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chr8:33346510G>A	ENST00000360128.6	+	5	702	c.245G>A	c.(244-246)cGg>cAg	p.R82Q	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	82						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R82Q(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						TGGTAGGTCCGGCTTAGTAAA	0.423																																																2	Substitution - Missense(2)	ovary(1)|endometrium(1)	8											90.0	89.0	90.0					8																	33346510		2203	4300	6503	33466052	SO:0001583	missense	84549			AF251062	CCDS6089.1	8p12	2011-10-13	2008-06-04	2008-06-04	ENSG00000198042	ENSG00000198042		"""RNA binding motif (RRM) containing"""	13703	protein-coding gene	gene with protein product			"""RNA binding motif protein 13"""	RBM13			Standard	NM_032509		Approved	MAK16L	uc003xjj.3	Q9BXY0	OTTHUMG00000163957	ENST00000360128.6:c.245G>A	8.37:g.33346510G>A	ENSP00000353246:p.Arg82Gln	Somatic		Capture	SOLID	Phase_IV	33466052	B2RB44|Q5U5T1|Q86UC4|Q96SY6	Missense_Mutation	SNP	ENST00000360128.6	37	CCDS6089.1	SNP	39	Baylor	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838440	0.71373	.	.	ENSG00000198042	ENST00000360128	T	0.41758	0.99	5.74	4.86	0.63082	.	0.182235	0.48286	D	0.000189	T	0.39172	0.1068	L	0.49513	1.565	0.42219	D	0.991849	B	0.29612	0.251	B	0.26770	0.073	T	0.33599	-0.9862	10	0.62326	D	0.03	-6.7796	14.5251	0.67881	0.0:0.0:0.7343:0.2657	.	82	Q9BXY0	MAK16_HUMAN	Q	82	ENSP00000353246:R82Q	ENSP00000353246:R82Q	R	+	2	0	MAK16	33466052	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.664000	0.61540	1.422000	0.47177	0.561000	0.74099	CGG		0.423	MAK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376559.3	NM_032509		Missense_Mutation
MDFIC	29969	hgsc.bcm.edu	37	7	114619677	114619677	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1407-01	TCGA-13-1407-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chr7:114619677G>C	ENST00000393486.1	+	4	924	c.334G>C	c.(334-336)Ggg>Cgg	p.G112R	MDFIC_ENST00000257724.3_Missense_Mutation_p.G221R	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1			MyoD family inhibitor domain containing									p.G221R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						AATTCACCACGGGGCCAAACA	0.468																																																1	Substitution - Missense(1)	ovary(1)	7											91.0	89.0	90.0					7																	114619677		2203	4300	6503	114406913	SO:0001583	missense	29969			AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000393486.1:c.334G>C	7.37:g.114619677G>C	ENSP00000377126:p.Gly112Arg	Somatic		Capture	SOLID	Phase_IV	114406913		Missense_Mutation	SNP	ENST00000393486.1	37	CCDS55155.1	SNP	39	Baylor	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297839	0.60086	.	.	ENSG00000135272	ENST00000257724;ENST00000393486;ENST00000427207;ENST00000498196	.	.	.	5.98	5.1	0.69264	.	0.225393	0.37012	N	0.002298	T	0.60209	0.2251	L	0.53249	1.67	0.47094	D	0.999313	B	0.28636	0.218	B	0.30179	0.112	T	0.60591	-0.7233	9	0.54805	T	0.06	-3.5483	15.5998	0.76616	0.0666:0.0:0.9334:0.0	.	112	Q9P1T7	MDFIC_HUMAN	R	221;112;98;57	.	ENSP00000257724:G221R	G	+	1	0	MDFIC	114406913	1.000000	0.71417	0.856000	0.33681	0.851000	0.48451	5.754000	0.68743	1.509000	0.48786	0.591000	0.81541	GGG		0.468	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059968.4	NM_199072		Missense_Mutation
MPPE1	65258	hgsc.bcm.edu	37	18	11886921	11886921	+	Nonsense_Mutation	SNP	G	G	A	rs557109438	byFrequency	TCGA-13-1407-01	TCGA-13-1407-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chr18:11886921G>A	ENST00000588072.1	-	7	1894	c.673C>T	c.(673-675)Cga>Tga	p.R225*	MPPE1_ENST00000344987.7_Nonsense_Mutation_p.R225*|MPPE1_ENST00000399978.2_Nonsense_Mutation_p.R225*|MPPE1_ENST00000317235.7_Nonsense_Mutation_p.R225*|MPPE1_ENST00000592755.1_5'Flank|MPPE1_ENST00000309976.9_Nonsense_Mutation_p.R225*	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	225					ER to Golgi vesicle-mediated transport (GO:0006888)|GPI anchor biosynthetic process (GO:0006506)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GPI anchor binding (GO:0034235)|manganese ion binding (GO:0030145)|phosphoric diester hydrolase activity (GO:0008081)	p.R225*(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						CCTACCTCTCGGGAGCAGTTC	0.557													G|||	3	0.000599042	0.0	0.0	5008	,	,		19213	0.0		0.0	False		,,,				2504	0.0031															1	Substitution - Nonsense(1)	ovary(1)	18											51.0	44.0	47.0					18																	11886921		2203	4300	6503	11876921	SO:0001587	stop_gained	65258			BC002877	CCDS11853.1, CCDS56054.1	18p11.21	2004-04-30			ENSG00000154889	ENSG00000154889			15988	protein-coding gene	gene with protein product		611900				11978971	Standard	NM_001242904		Approved		uc002kqf.3	Q53F39	OTTHUMG00000131661	ENST00000588072.1:c.673C>T	18.37:g.11886921G>A	ENSP00000465894:p.Arg225*	Somatic		Capture	SOLID	Phase_IV	11876921	B0YJ39|B0YJ40|B0YJ41|B5ME53|B7WNJ3|D3DUI5|D3DUI7|Q6GMP1|Q8TAD6|Q8TE26|Q8WZ32|Q9BU58|Q9H958|Q9HAI4	Nonsense_Mutation	SNP	ENST00000588072.1	37	CCDS11853.1	SNP	39	Baylor	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768356	0.90020	.	.	ENSG00000154889	ENST00000317235;ENST00000309976;ENST00000317251;ENST00000344987;ENST00000399978	.	.	.	5.2	3.21	0.36854	.	0.374298	0.26750	N	0.022690	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.1646	9.3267	0.37997	0.0806:0.0:0.697:0.2224	.	.	.	.	X	225;225;128;225;225	.	ENSP00000311200:R225X	R	-	1	2	MPPE1	11876921	1.000000	0.71417	0.733000	0.30861	0.098000	0.18820	3.174000	0.50847	1.185000	0.42971	-0.150000	0.13652	CGA		0.557	MPPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254562.2	NM_023075		Nonsense_Mutation
MUC6	4588	hgsc.bcm.edu	37	11	1017069	1017069	+	Missense_Mutation	SNP	G	G	A	rs80333708	byFrequency	TCGA-13-1407-01	TCGA-13-1407-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chr11:1017069G>A	ENST00000421673.2	-	31	5782	c.5732C>T	c.(5731-5733)aCg>aTg	p.T1911M		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1911	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.T1911M(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTTTTGGCCGTGCTAAATGA	0.557																																																1	Substitution - Missense(1)	ovary(1)	11											696.0	710.0	706.0					11																	1017069		2198	4283	6481	1007069	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5732C>T	11.37:g.1017069G>A	ENSP00000406861:p.Thr1911Met	Somatic		Capture	SOLID	Phase_IV	1007069	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	SNP	40	Baylor	.	.	.	.	.	.	.	.	.	.	G	14.95	2.686928	0.48097	.	.	ENSG00000184956	ENST00000421673	T	0.38240	1.15	3.01	3.01	0.34805	.	.	.	.	.	T	0.54983	0.1892	M	0.68317	2.08	0.20074	N	0.999931	D	0.89917	1.0	D	0.79784	0.993	T	0.35773	-0.9775	9	0.59425	D	0.04	.	10.1345	0.42697	0.0:0.0:1.0:0.0	.	1911	Q6W4X9	MUC6_HUMAN	M	1911	ENSP00000406861:T1911M	ENSP00000406861:T1911M	T	-	2	0	MUC6	1007069	0.029000	0.19370	0.095000	0.20976	0.045000	0.14185	0.596000	0.24044	1.642000	0.50584	0.313000	0.20887	ACG		0.557	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		Missense_Mutation
NCOR2	9612	hgsc.bcm.edu	37	12	124840034	124840037	+	Frame_Shift_Del	DEL	TGAG	TGAG	-			TCGA-13-1407-01	TCGA-13-1407-10	TGAG	TGAG	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chr12:124840034_124840037delTGAG	ENST00000405201.1	-	24	3322_3325	c.3322_3325delCTCA	c.(3322-3327)ctcatcfs	p.LI1108fs	NCOR2_ENST00000429285.2_Frame_Shift_Del_p.LI1098fs|NCOR2_ENST00000397355.1_Frame_Shift_Del_p.LI1099fs|NCOR2_ENST00000404621.1_Frame_Shift_Del_p.LI1098fs|NCOR2_ENST00000356219.3_Frame_Shift_Del_p.LI1115fs|NCOR2_ENST00000404121.2_Frame_Shift_Del_p.LI669fs			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1116					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.L1115fs*14(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCAGAGGAGATGAGGGGAGGCGGG	0.623																																																1	Deletion - Frameshift(1)	ovary(1)	12																																								123405990	SO:0001589	frameshift_variant	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.3322_3325delCTCA	12.37:g.124840034_124840037delTGAG	ENSP00000384018:p.Leu1108fs	Somatic		Capture	SOLID	Phase_IV	123405987	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Frame_Shift_Del	DEL	ENST00000405201.1	37	CCDS41858.2	DEL	51	Baylor																																																																																				0.623	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		Frame_Shift_Del
OPCML	4978	hgsc.bcm.edu	37	11	132307168	132307168	+	Silent	SNP	C	C	T	rs148098619		TCGA-13-1407-01	TCGA-13-1407-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chr11:132307168C>T	ENST00000331898.7	-	4	1190	c.612G>A	c.(610-612)gcG>gcA	p.A204A	OPCML_ENST00000524381.1_Silent_p.A197A|OPCML_ENST00000541867.1_Silent_p.A204A|OPCML_ENST00000374778.4_Silent_p.A163A|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	204	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)	p.A204A(2)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CATCGTTCAACGCGCTGCATT	0.547																																																2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	11						C	,	0,4402		0,0,2201	118.0	101.0	107.0		591,612	-1.2	0.9	11	dbSNP_134	107	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous,coding-synonymous	OPCML	NM_001012393.1,NM_002545.3	,	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	,	197/339,204/346	132307168	1,12995	2201	4297	6498	131812378	SO:0001819	synonymous_variant	4978			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.612G>A	11.37:g.132307168C>T		Somatic		Capture	SOLID	Phase_IV	131812378	B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Silent	SNP	ENST00000331898.7	37	CCDS8492.1	SNP	19	Baylor																																																																																				0.547	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		Silent
PAH	5053	hgsc.bcm.edu	37	12	103249075	103249075	+	Missense_Mutation	SNP	T	T	C	rs199475617		TCGA-13-1407-01	TCGA-13-1407-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chr12:103249075T>C	ENST00000553106.1	-	6	1017	c.545A>G	c.(544-546)gAa>gGa	p.E182G	PAH_ENST00000551988.1_5'UTR|PAH_ENST00000307000.2_Missense_Mutation_p.E177G	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	182					catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)	p.E182G(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TTTCTTTTCTTCCTCCATGTA	0.463																																																1	Substitution - Missense(1)	ovary(1)	12	GRCh37	CM950885	PAH	M							97.0	92.0	94.0					12																	103249075		2203	4300	6503	101773205	SO:0001583	missense	5053			U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.545A>G	12.37:g.103249075T>C	ENSP00000448059:p.Glu182Gly	Somatic		Capture	SOLID	Phase_IV	101773205	Q16717|Q8TC14	Missense_Mutation	SNP	ENST00000553106.1	37	CCDS9092.1	SNP	62	Baylor	.	.	.	.	.	.	.	.	.	.	T	21.5	4.161921	0.78226	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99683	-6.39;-6.39	5.73	5.73	0.89815	Aromatic amino acid hydroxylase, C-terminal (3);	0.143235	0.64402	D	0.000007	D	0.99651	0.9871	M	0.91663	3.23	0.80722	D	1	P;P	0.52577	0.94;0.954	P;P	0.54629	0.757;0.741	D	0.97617	1.0133	10	0.72032	D	0.01	-23.5389	16.0172	0.80450	0.0:0.0:0.0:1.0	rs62650746	182;182	B4DPN2;P00439	.;PH4H_HUMAN	G	182;177	ENSP00000448059:E182G;ENSP00000303500:E177G	ENSP00000303500:E177G	E	-	2	0	PAH	101773205	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	5.026000	0.64103	2.185000	0.69588	0.454000	0.30748	GAA		0.463	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			Missense_Mutation
PHF20	51230	hgsc.bcm.edu	37	20	34457456	34457456	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1407-01	TCGA-13-1407-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chr20:34457456G>A	ENST00000374012.3	+	7	1034	c.905G>A	c.(904-906)cGg>cAg	p.R302Q	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	302					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R302Q(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AAACGTCCTCGGCTTGACAAA	0.393																																																1	Substitution - Missense(1)	ovary(1)	20											136.0	137.0	137.0					20																	34457456		2203	4300	6503	33920870	SO:0001583	missense	51230			AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.905G>A	20.37:g.34457456G>A	ENSP00000363124:p.Arg302Gln	Somatic		Capture	SOLID	Phase_IV	33920870	A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	CCDS13268.1	SNP	39	Baylor	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416046	0.83449	.	.	ENSG00000025293	ENST00000374012;ENST00000339089;ENST00000374000	T;T;T	0.54071	1.27;0.59;0.59	5.5	4.55	0.56014	.	0.408254	0.23981	N	0.042661	T	0.57315	0.2045	L	0.50333	1.59	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.996	P;P;P	0.52031	0.688;0.557;0.54	T	0.58624	-0.7604	10	0.48119	T	0.1	.	14.5775	0.68258	0.0715:0.0:0.9285:0.0	.	302;302;302	Q566Q2;Q9BVI0;Q66K49	.;PHF20_HUMAN;.	Q	302	ENSP00000363124:R302Q;ENSP00000341900:R302Q;ENSP00000363112:R302Q	ENSP00000341900:R302Q	R	+	2	0	PHF20	33920870	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.772000	0.62324	2.587000	0.87381	0.591000	0.81541	CGG		0.393	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		Missense_Mutation
PHKG2	5261	hgsc.bcm.edu	37	16	30762916	30762916	+	Silent	SNP	G	G	C	rs199743139		TCGA-13-1407-01	TCGA-13-1407-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chr16:30762916G>C	ENST00000563588.1	+	4	557	c.318G>C	c.(316-318)gtG>gtC	p.V106V	PHKG2_ENST00000328273.7_Silent_p.V106V|PHKG2_ENST00000424889.3_Silent_p.V106V|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	106	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> E (in GSD9C). {ECO:0000269|PubMed:8896567}.		carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			ovary(1)|skin(1)	2			Colorectal(24;0.198)			TGTTCCTGGTGTTTGACCTGT	0.547																																																0			16											504.0	441.0	462.0					16																	30762916		2197	4300	6497	30670417	SO:0001819	synonymous_variant	5261			S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.318G>C	16.37:g.30762916G>C		Somatic		Capture	SOLID	Phase_IV	30670417	A8K0C7|B4DEB7|E9PEU3|P11800	Silent	SNP	ENST00000563588.1	37	CCDS10690.1	SNP	48	Baylor																																																																																				0.547	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255531.2	NM_000294		Silent
PREX1	57580	hgsc.bcm.edu	37	20	47351083	47351083	+	Splice_Site	SNP	C	C	G	rs370938889		TCGA-13-1407-01	TCGA-13-1407-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chr20:47351083C>G	ENST00000371941.3	-	4	541	c.519G>C	c.(517-519)ttG>ttC	p.L173F	PREX1_ENST00000396220.1_Splice_Site_p.L173F	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	173	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L173F(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GTCAACTTACCAAAAGGAAGG	0.562																																																1	Substitution - Missense(1)	ovary(1)	20											192.0	158.0	169.0					20																	47351083		2203	4300	6503	46784490	SO:0001630	splice_region_variant	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.519+1G>C	20.37:g.47351083C>G		Somatic		Capture	SOLID	Phase_IV	46784490	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	SNP	21	Baylor	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302960	0.60195	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.68331	-0.32;-0.32	5.5	3.58	0.41010	Dbl homology (DH) domain (5);	0.000000	0.43110	U	0.000603	T	0.78641	0.4315	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77440	-0.2587	9	.	.	.	.	11.5602	0.50772	0.0:0.8542:0.0:0.1458	.	173	Q8TCU6	PREX1_HUMAN	F	173	ENSP00000361009:L173F;ENSP00000379522:L173F	.	L	-	3	2	PREX1	46784490	1.000000	0.71417	0.951000	0.38953	0.266000	0.26442	7.129000	0.77225	0.699000	0.31761	0.650000	0.86243	TTG		0.562	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	Missense_Mutation	Missense_Mutation
PRKCI	5584	hgsc.bcm.edu	37	3	170013719	170013719	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1407-01	TCGA-13-1407-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	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																																																3	Substitution - Missense(3)	large_intestine(2)|ovary(1)	3											61.0	66.0	64.0					3																	170013719		2202	4298	6500	171496413	SO:0001583	missense	5584				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_IV	171496413	D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	37	CCDS3212.2	SNP	31	Baylor	.	.	.	.	.	.	.	.	.	.	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		Missense_Mutation
PRMT5	10419	hgsc.bcm.edu	37	14	23393852	23393852	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1407-01	TCGA-13-1407-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chr14:23393852G>C	ENST00000324366.8	-	9	1229	c.1006C>G	c.(1006-1008)Cag>Gag	p.Q336E	PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000553641.1_5'Flank|PRMT5_ENST00000397440.4_Missense_Mutation_p.Q165E|PRMT5_ENST00000397441.2_Missense_Mutation_p.Q319E|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.Q275E|PRMT5_ENST00000538452.1_Missense_Mutation_p.Q230E|PRMT5-AS1_ENST00000457443.2_RNA|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.Q292E	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	336	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)	p.Q336E(1)|p.Q336*(1)|p.Q319*(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TGCTGGTACTGAGAGTATTTG	0.493																																																3	Substitution - Nonsense(2)|Substitution - Missense(1)	lung(2)|ovary(1)	14											102.0	91.0	95.0					14																	23393852		2203	4300	6503	22463692	SO:0001583	missense	10419			AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.1006C>G	14.37:g.23393852G>C	ENSP00000319169:p.Gln336Glu	Somatic		Capture	SOLID	Phase_IV	22463692	A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	37	CCDS9579.1	SNP	45	Baylor	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708695	0.30322	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000397440;ENST00000216350;ENST00000538452;ENST00000553897;ENST00000553502;ENST00000555530;ENST00000556043;ENST00000553550	T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05	5.92	5.92	0.95590	.	0.154543	0.64402	D	0.000013	T	0.17195	0.0413	N	0.25992	0.78	0.80722	D	1	B;B;B;B;B	0.17038	0.007;0.005;0.016;0.005;0.02	B;B;B;B;B	0.21360	0.02;0.023;0.034;0.008;0.023	T	0.09400	-1.0676	10	0.10636	T	0.68	-12.8612	19.0921	0.93231	0.0:0.0:1.0:0.0	.	292;275;165;336;319	G3V5W5;B4DX49;A8MTP3;O14744;A8MZ91	.;.;.;ANM5_HUMAN;.	E	336;319;165;275;230;292;79;231;88;182	ENSP00000319169:Q336E;ENSP00000380583:Q319E;ENSP00000380582:Q165E;ENSP00000216350:Q275E;ENSP00000444915:Q230E;ENSP00000452555:Q292E	ENSP00000216350:Q275E	Q	-	1	0	PRMT5	22463692	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.550000	0.90675	2.813000	0.96785	0.561000	0.74099	CAG		0.493	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3			Missense_Mutation
PSORS1C1	170679	hgsc.bcm.edu	37	6	31106500	31106501	+	Frame_Shift_Ins	INS	-	-	C	rs138474986|rs9278990|rs373492377|rs375095896|rs386698869	byFrequency	TCGA-13-1407-01	TCGA-13-1407-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chr6:31106500_31106501insC	ENST00000259881.9	+	5	400_401	c.111_112insC	c.(112-114)cccfs	p.P38fs	PSORS1C2_ENST00000259845.4_Intron|PSORS1C1_ENST00000547221.1_5'UTR|PSORS1C1_ENST00000481450.2_Intron	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1	38								p.H40fs*3(2)		kidney(1)|ovary(2)|prostate(1)|skin(1)	5						AGGAAACTCGTCCCCCCCACGT	0.564																																																2	Insertion - Frameshift(2)	ovary(1)|kidney(1)	6																																								31214480	SO:0001589	frameshift_variant	170679			AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.118dupC	6.37:g.31106507_31106507dupC	ENSP00000259881:p.Pro38fs	Somatic		Capture	SOLID	Phase_IV	31214479	B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Frame_Shift_Ins	INS	ENST00000259881.9	37	CCDS34390.1	INS	58	Baylor																																																																																				0.564	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068		Frame_Shift_Ins
SCN5A	6331	hgsc.bcm.edu	37	3	38595909	38595909	+	Frame_Shift_Del	DEL	G	G	-			TCGA-13-1407-01	TCGA-13-1407-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chr3:38595909delG	ENST00000333535.4	-	27	4823	c.4674delC	c.(4672-4674)aacfs	p.N1558fs	SCN5A_ENST00000413689.1_Frame_Shift_Del_p.N1558fs|SCN5A_ENST00000423572.2_Frame_Shift_Del_p.N1557fs|SCN5A_ENST00000414099.2_Frame_Shift_Del_p.N1540fs|SCN5A_ENST00000455624.2_Frame_Shift_Del_p.N1557fs|SCN5A_ENST00000425664.1_Frame_Shift_Del_p.N1540fs|SCN5A_ENST00000450102.2_Frame_Shift_Del_p.N1504fs|SCN5A_ENST00000451551.2_Frame_Shift_Del_p.N1504fs|SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000443581.1_Frame_Shift_Del_p.N1557fs|SCN5A_ENST00000449557.2_Frame_Shift_Del_p.N1504fs			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1558					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.N1558fs*73(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGCCAAGATGTTGATTTTCT	0.493																																																1	Deletion - Frameshift(1)	ovary(1)	3											177.0	190.0	186.0					3																	38595909		2116	4253	6369	38570913	SO:0001589	frameshift_variant	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4674delC	3.37:g.38595909delG	ENSP00000328968:p.Asn1558fs	Somatic		Capture	SOLID	Phase_IV	38570913	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Frame_Shift_Del	DEL	ENST00000333535.4	37	CCDS46796.1	DEL	48	Baylor																																																																																				0.493	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		Frame_Shift_Del
SFXN4	119559	hgsc.bcm.edu	37	10	120920467	120920467	+	Silent	SNP	G	G	C			TCGA-13-1407-01	TCGA-13-1407-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chr10:120920467G>C	ENST00000355697.2	-	5	313	c.294C>G	c.(292-294)ccC>ccG	p.P98P	SFXN4_ENST00000330036.6_Silent_p.P89P|SFXN4_ENST00000461438.1_5'UTR	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	98					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)	p.P98P(2)		central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		TGCTGCTGTCGGGATGCACTG	0.428																																																2	Substitution - coding silent(2)	ovary(1)|lung(1)	10											187.0	182.0	184.0					10																	120920467		2203	4300	6503	120910457	SO:0001819	synonymous_variant	119559				CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"""Sideroflexins"""	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.294C>G	10.37:g.120920467G>C		Somatic		Capture	SOLID	Phase_IV	120910457	Q6WSU4|Q86TD9	Silent	SNP	ENST00000355697.2	37	CCDS7610.1	SNP	39	Baylor																																																																																				0.428	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3	XM_058406		Silent
SPEF2	79925	hgsc.bcm.edu	37	5	35644569	35644569	+	Missense_Mutation	SNP	A	A	G			TCGA-13-1407-01	TCGA-13-1407-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chr5:35644569A>G	ENST00000356031.3	+	4	681	c.527A>G	c.(526-528)gAg>gGg	p.E176G	SPEF2_ENST00000509059.1_Missense_Mutation_p.E176G|SPEF2_ENST00000440995.2_Missense_Mutation_p.E176G|SPEF2_ENST00000282469.6_Missense_Mutation_p.E176G	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	176					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.E176G(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGCATTTTGAGAAACTTGAA	0.313																																																2	Substitution - Missense(2)	ovary(2)	5											38.0	40.0	39.0					5																	35644569		2201	4297	6498	35680326	SO:0001583	missense	79925			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.527A>G	5.37:g.35644569A>G	ENSP00000348314:p.Glu176Gly	Somatic		Capture	SOLID	Phase_IV	35680326	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	CCDS43309.1	SNP	11	Baylor	.	.	.	.	.	.	.	.	.	.	A	8.334	0.827065	0.16749	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000440995	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.43	5.43	0.79202	.	0.528581	0.18631	N	0.135591	T	0.12518	0.0304	L	0.34521	1.04	0.80722	D	1	P;B;B	0.43750	0.816;0.156;0.082	B;B;B	0.37267	0.245;0.054;0.085	T	0.11470	-1.0586	10	0.25106	T	0.35	.	11.5544	0.50739	0.8069:0.1931:0.0:0.0	.	176;176;176	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	G	176	ENSP00000282469:E176G;ENSP00000348314:E176G;ENSP00000421593:E176G;ENSP00000412125:E176G	ENSP00000282469:E176G	E	+	2	0	SPEF2	35680326	1.000000	0.71417	0.977000	0.42913	0.093000	0.18481	3.117000	0.50407	2.059000	0.61396	0.528000	0.53228	GAG		0.313	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		Missense_Mutation
SLCO4C1	353189	hgsc.bcm.edu	37	5	101585419	101585419	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1407-01	TCGA-13-1407-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chr5:101585419C>T	ENST00000310954.6	-	9	1829	c.1543G>A	c.(1543-1545)Gtc>Atc	p.V515I		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.V515I(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TCTCCACAGACAGGATAATAA	0.418																																																1	Substitution - Missense(1)	ovary(1)	5											98.0	95.0	96.0					5																	101585419		2203	4300	6503	101613318	SO:0001583	missense	353189			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1543G>A	5.37:g.101585419C>T	ENSP00000309741:p.Val515Ile	Somatic		Capture	SOLID	Phase_IV	101613318		Missense_Mutation	SNP	ENST00000310954.6	37	CCDS34205.1	SNP	17	Baylor	.	.	.	.	.	.	.	.	.	.	C	11.29	1.593720	0.28445	.	.	ENSG00000173930	ENST00000310954	T	0.13089	2.62	5.61	-4.07	0.03975	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Protease inhibitor, Kazal-type (1);	0.551750	0.16542	N	0.209867	T	0.13415	0.0325	L	0.43554	1.36	0.09310	N	0.999999	B	0.27823	0.19	B	0.36989	0.238	T	0.17837	-1.0356	10	0.27785	T	0.31	.	14.0394	0.64665	0.0:0.3156:0.5648:0.1196	.	515	Q6ZQN7	SO4C1_HUMAN	I	515	ENSP00000309741:V515I	ENSP00000309741:V515I	V	-	1	0	SLCO4C1	101613318	0.000000	0.05858	0.034000	0.17996	0.933000	0.57130	-0.517000	0.06275	-1.339000	0.02230	0.460000	0.39030	GTC		0.418	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		Missense_Mutation
TANC2	26115	hgsc.bcm.edu	37	17	61315435	61315435	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1407-01	TCGA-13-1407-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chr17:61315435G>A	ENST00000424789.2	+	6	812	c.808G>A	c.(808-810)Gca>Aca	p.A270T	TANC2_ENST00000389520.4_Missense_Mutation_p.A270T|AC037445.1_ENST00000581421.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	270					in utero embryonic development (GO:0001701)			p.A270T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AAATTCAGTAGCAGGTAAgtt	0.338																																																1	Substitution - Missense(1)	ovary(1)	17											14.0	14.0	14.0					17																	61315435		1795	3962	5757	58669167	SO:0001583	missense	26115			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.808G>A	17.37:g.61315435G>A	ENSP00000387593:p.Ala270Thr	Somatic		Capture	SOLID	Phase_IV	58669167	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	CCDS45754.1	SNP	34	Baylor	.	.	.	.	.	.	.	.	.	.	G	32	5.139586	0.94560	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.70164	-0.46;-0.42	5.7	5.7	0.88788	.	.	.	.	.	T	0.76478	0.3993	L	0.39020	1.185	0.80722	D	1	P;D	0.89917	0.712;1.0	P;D	0.91635	0.55;0.999	T	0.74808	-0.3539	9	0.42905	T	0.14	.	19.8405	0.96681	0.0:0.0:1.0:0.0	.	270;270	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	T	270	ENSP00000374171:A270T;ENSP00000387593:A270T	ENSP00000374171:A270T	A	+	1	0	TANC2	58669167	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.692000	0.91855	0.655000	0.94253	GCA		0.338	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			Missense_Mutation
USP24	23358	hgsc.bcm.edu	37	1	55612632	55612632	+	Silent	SNP	A	A	C			TCGA-13-1407-01	TCGA-13-1407-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chr1:55612632A>C	ENST00000294383.6	-	19	2219	c.2220T>G	c.(2218-2220)acT>acG	p.T740T	USP24_ENST00000407756.1_Silent_p.T580T	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	740					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.T657T(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CATCCTGGCCAGTTACAAGAC	0.388																																																1	Substitution - coding silent(1)	ovary(1)	1											115.0	110.0	112.0					1																	55612632		1862	4105	5967	55385220	SO:0001819	synonymous_variant	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.2220T>G	1.37:g.55612632A>C		Somatic		Capture	SOLID	Phase_IV	55385220	Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	37	CCDS44154.2	SNP	7	Baylor																																																																																				0.388	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			Silent
WEE1	7465	hgsc.bcm.edu	37	11	9598752	9598752	+	Silent	SNP	A	A	G			TCGA-13-1407-01	TCGA-13-1407-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-13-1407-01	TCGA-13-1407-10	g.chr11:9598752A>G	ENST00000450114.2	+	5	1336	c.1083A>G	c.(1081-1083)cgA>cgG	p.R361R	snoU13_ENST00000458785.1_RNA|WEE1_ENST00000299613.6_Silent_p.R147R	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	361	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.R361R(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		ATGTAGTTCGATATTTCTCTG	0.358																																																1	Substitution - coding silent(1)	ovary(1)	11											156.0	151.0	153.0					11																	9598752		2201	4294	6495	9555328	SO:0001819	synonymous_variant	7465			X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"""wee1+ (S. pombe) homolog"", ""WEE1 homolog (S. pombe)"""			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.1083A>G	11.37:g.9598752A>G		Somatic		Capture	SOLID	Phase_IV	9555328	B3KVE1|D3DQV0	Silent	SNP	ENST00000450114.2	37	CCDS7800.1	SNP	12	Baylor																																																																																				0.358	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386757.1	NM_003390		Silent
