#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_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
ADAM2	2515	hgsc.bcm.edu	37	8	39613302	39613302	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr8:39613302T>G	ENST00000265708.4	-	16	1845	c.1742A>C	c.(1741-1743)cAt>cCt	p.H581P	AC136365.1_ENST00000408091.1_RNA|ADAM2_ENST00000347580.4_Missense_Mutation_p.H562P|ADAM2_ENST00000379853.2_Missense_Mutation_p.H425P|ADAM2_ENST00000521880.1_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	581	Cys-rich.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.H581P(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GCTGTCTGCATGATCACTGGC	0.333																																																1	Substitution - Missense(1)	ovary(1)	8											98.0	95.0	96.0					8																	39613302		2203	4300	6503	39732459	SO:0001583	missense	2515			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1742A>C	8.37:g.39613302T>G	ENSP00000265708:p.His581Pro		39732459	P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	T	6.125	0.391266	0.11581	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708	T;T;T	0.21734	1.99;1.99;1.99	4.67	2.1	0.27182	ADAM, cysteine-rich (2);	.	.	.	.	T	0.20941	0.0504	L	0.41415	1.275	0.09310	N	1	P;B;B	0.48998	0.918;0.0;0.009	P;B;B	0.49140	0.601;0.012;0.007	T	0.09596	-1.0667	8	.	.	.	.	5.2195	0.15362	0.1798:0.0:0.1875:0.6327	.	425;562;581	Q6P2G0;Q99965-2;Q99965	.;.;ADAM2_HUMAN	P	562;425;581	ENSP00000343854:H562P;ENSP00000369182:H425P;ENSP00000265708:H581P	.	H	-	2	0	ADAM2	39732459	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.087000	0.11215	0.196000	0.20367	0.533000	0.62120	CAT		0.333	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464	
LAMA2	3908	hgsc.bcm.edu	37	6	129663610	129663610	+	Silent	SNP	C	C	T			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr6:129663610C>T	ENST00000421865.2	+	30	4483	c.4434C>T	c.(4432-4434)aaC>aaT	p.N1478N		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1478	Laminin EGF-like 16. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.N1478N(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTTCCAGTAACAAGTAAGATT	0.408																																																1	Substitution - coding silent(1)	ovary(1)	6											118.0	112.0	114.0					6																	129663610		2203	4300	6503	129705303	SO:0001819	synonymous_variant	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4434C>T	6.37:g.129663610C>T			129705303	Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	CCDS5138.1																																																																																				0.408	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
PDCL2	132954	hgsc.bcm.edu	37	4	56428648	56428648	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr4:56428648A>C	ENST00000295645.4	-	5	596	c.494T>G	c.(493-495)tTt>tGt	p.F165C		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	165	Thioredoxin fold. {ECO:0000250}.							p.F165C(1)		endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			TTTATACACAAAAATTGTTGG	0.318																																																1	Substitution - Missense(1)	ovary(1)	4											71.0	67.0	68.0					4																	56428648		1800	4076	5876	56123405	SO:0001583	missense	132954			BC034431	CCDS47059.1	4q12	2008-02-05			ENSG00000163440	ENSG00000163440			29524	protein-coding gene	gene with protein product		611676				12424248	Standard	NM_152401		Approved	GCPHLP	uc003hbb.3	Q8N4E4	OTTHUMG00000160674	ENST00000295645.4:c.494T>G	4.37:g.56428648A>C	ENSP00000295645:p.Phe165Cys		56123405	A8MWA2|B9ZVQ9	Missense_Mutation	SNP	ENST00000295645.4	37	CCDS47059.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.319908	0.81469	.	.	ENSG00000163440	ENST00000295645	T	0.43294	0.95	5.85	5.85	0.93711	Phosducin, thioredoxin-like domain (1);Thioredoxin-like fold (2);	0.084010	0.52532	D	0.000075	T	0.67496	0.2899	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71699	-0.4514	10	0.66056	D	0.02	-14.9925	16.2236	0.82274	1.0:0.0:0.0:0.0	.	165	Q8N4E4	PDCL2_HUMAN	C	165	ENSP00000295645:F165C	ENSP00000295645:F165C	F	-	2	0	PDCL2	56123405	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.591000	0.90824	2.235000	0.73313	0.402000	0.26972	TTT		0.318	PDCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361659.1	NM_152401	
SNX12	29934	hgsc.bcm.edu	37	X	70282710	70282710	+	Silent	SNP	A	A	G			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chrX:70282710A>G	ENST00000374274.3	-	2	371	c.255T>C	c.(253-255)gaT>gaC	p.D85D	SNX12_ENST00000276105.3_Silent_p.D81D|SNX12_ENST00000465030.1_5'UTR	NM_001256185.1|NM_001256188.1|NM_013346.3	NP_001243114.1|NP_001243117.1|NP_037478.2	Q9UMY4	SNX12_HUMAN	sorting nexin 12	85	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|negative regulation of early endosome to late endosome transport (GO:2000642)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of protein transport (GO:0051224)|regulation of endocytosis (GO:0030100)	early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)	p.D85D(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	Renal(35;0.156)					ATACCTTGCTATCTCTCTCCA	0.483																																																1	Substitution - coding silent(1)	ovary(1)	X											107.0	82.0	91.0					X																	70282710		2203	4300	6503	70199435	SO:0001819	synonymous_variant	29934			AF171229	CCDS14405.1, CCDS59169.1	Xq13.1	2008-03-11			ENSG00000147164	ENSG00000147164		"""Sorting nexins"""	14976	protein-coding gene	gene with protein product		300883					Standard	NM_013346		Approved		uc004dyr.2	Q9UMY4	OTTHUMG00000021786	ENST00000374274.3:c.255T>C	X.37:g.70282710A>G			70199435	F8W8K5|Q8WUG9	Silent	SNP	ENST00000374274.3	37	CCDS14405.1																																																																																				0.483	SNX12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057094.1	NM_013346	
SON	6651	hgsc.bcm.edu	37	21	34948696	34948696	+	Frame_Shift_Del	DEL	G	G	-	rs201284665|rs34373121		TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr21:34948696delG	ENST00000356577.4	+	12	7722	c.7247delG	c.(7246-7248)agafs	p.R2416fs	DONSON_ENST00000303113.6_Intron|AP000304.1_ENST00000595468.1_5'Flank|SON_ENST00000290239.6_3'UTR|SON_ENST00000381692.2_Frame_Shift_Del_p.R444fs|SON_ENST00000470533.1_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2416	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.			ALTR -> SPYQ (in Ref. 2; AAK07692). {ECO:0000305}.	cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GCCCTTACCAGACCCAATTGT	0.363																																																0			21											45.0	46.0	46.0					21																	34948696		2202	4291	6493	33870566	SO:0001589	frameshift_variant	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.7247delG	21.37:g.34948696delG	ENSP00000348984:p.Arg2416fs		33870566	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Frame_Shift_Del	DEL	ENST00000356577.4	37	CCDS13629.1																																																																																				0.363	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927	
ZFP69	339559	hgsc.bcm.edu	37	1	40945126	40945126	+	Frame_Shift_Del	DEL	G	G	-			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr1:40945126delG	ENST00000372706.1	+	2	1099	c.93delG	c.(91-93)ctgfs	p.L31fs	ZFP69_ENST00000372705.3_Frame_Shift_Del_p.L31fs			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	31	SCAN box.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.W32fs*4(1)									GGGCGCCCCTGTGGGAGGATG	0.547																																																1	Deletion - Frameshift(1)	ovary(1)	1											42.0	45.0	44.0					1																	40945126		2203	4300	6503	40717713	SO:0001589	frameshift_variant	339559			AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.93delG	1.37:g.40945126delG	ENSP00000361791:p.Leu31fs		40717713	Q5SWM5|Q6ZWK8	Frame_Shift_Del	DEL	ENST00000372706.1	37	CCDS30686.1																																																																																				0.547	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494	
ARSF	416	hgsc.bcm.edu	37	X	3002505	3002505	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chrX:3002505G>A	ENST00000381127.1	+	6	849	c.628G>A	c.(628-630)Ggc>Agc	p.G210S	ARSF_ENST00000359361.2_Missense_Mutation_p.G210S|ARSF_ENST00000537104.1_Missense_Mutation_p.G210S	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	210					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.G210S(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAAGCTGAGCGGCTGGGTCTC	0.522																																																1	Substitution - Missense(1)	ovary(1)	X											133.0	108.0	116.0					X																	3002505		2203	4300	6503	3012505	SO:0001583	missense	416			X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.628G>A	X.37:g.3002505G>A	ENSP00000370519:p.Gly210Ser		3012505	Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035265	0.35893	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.93659	-3.26;-3.26;-3.26	3.44	-3.03	0.05429	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.326203	0.27139	N	0.020744	D	0.88481	0.6448	M	0.64997	1.995	0.09310	N	1	P	0.44309	0.832	B	0.43478	0.421	T	0.80710	-0.1261	10	0.38643	T	0.18	.	2.4257	0.04459	0.2605:0.3568:0.2751:0.1076	.	210	P54793	ARSF_HUMAN	S	210	ENSP00000370519:G210S;ENSP00000445594:G210S;ENSP00000352319:G210S	ENSP00000352319:G210S	G	+	1	0	ARSF	3012505	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.579000	0.02123	-0.448000	0.07128	-0.273000	0.10243	GGC		0.522	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1		
SUGCT	79783	hgsc.bcm.edu	37	7	40488936	40488936	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr7:40488936G>T	ENST00000335693.4	+	10	911	c.888G>T	c.(886-888)caG>caT	p.Q296H	C7orf10_ENST00000401647.2_Missense_Mutation_p.Q248H|C7orf10_ENST00000309930.5_Missense_Mutation_p.Q296H	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		296					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)	p.Q296H(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GAAATAACCAGCAGTTTGCCA	0.373																																																1	Substitution - Missense(1)	ovary(1)	7											111.0	106.0	107.0					7																	40488936		1832	4090	5922	40455461	SO:0001583	missense	79783																														ENST00000335693.4:c.888G>T	7.37:g.40488936G>T	ENSP00000338475:p.Gln296His		40455461	A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	CCDS55105.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.781|6.781	0.513084|0.513084	0.12944|0.12944	.|.	.|.	ENSG00000175600|ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693|ENST00000416370	T;T;T|.	0.76060|.	-0.99;-0.99;-0.99|.	5.4|5.4	-2.79|-2.79	0.05841|0.05841	CoA-transferase family III domain (2);|.	0.254327|.	0.38897|.	N|.	0.001528|.	T|T	0.43033|0.43033	0.1229|0.1229	L|L	0.45698|0.45698	1.435|1.435	0.80722|0.80722	D|D	1|1	B;B;B|.	0.15473|.	0.001;0.006;0.013|.	B;B;B|.	0.20577|.	0.014;0.03;0.018|.	T|T	0.37291|0.37291	-0.9712|-0.9712	10|5	0.54805|.	T|.	0.06|.	-5.5528|-5.5528	3.1437|3.1437	0.06464|0.06464	0.3575:0.1245:0.3964:0.1215|0.3575:0.1245:0.3964:0.1215	.|.	248;296;259|.	Q4KMW8;Q9HAC7;Q9HAC7-2|.	.;CG010_HUMAN;.|.	H|I	296;248;296|291	ENSP00000312054:Q296H;ENSP00000385222:Q248H;ENSP00000338475:Q296H|.	ENSP00000312054:Q296H|.	Q|S	+|+	3|2	2|0	C7orf10|C7orf10	40455461|40455461	0.860000|0.860000	0.29831|0.29831	0.982000|0.982000	0.44146|0.44146	0.101000|0.101000	0.19017|0.19017	-0.231000|-0.231000	0.09069|0.09069	-0.401000|-0.401000	0.07644|0.07644	-1.107000|-1.107000	0.02091|0.02091	CAG|AGC		0.373	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1		
CA9	768	hgsc.bcm.edu	37	9	35679874	35679874	+	Silent	SNP	G	G	A			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr9:35679874G>A	ENST00000378357.4	+	8	1193	c.1089G>A	c.(1087-1089)ctG>ctA	p.L363L	CA9_ENST00000493245.1_3'UTR	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	363	Catalytic.				bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.L363L(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	CTGACACCCTGTGGGGACCTG	0.597																																																1	Substitution - coding silent(1)	ovary(1)	9											75.0	65.0	68.0					9																	35679874		2203	4300	6503	35669874	SO:0001819	synonymous_variant	768			X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"""Carbonic anhydrases"""	1383	protein-coding gene	gene with protein product	"""carbonic dehydratase"", ""RCC-associated protein G250"""	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.1089G>A	9.37:g.35679874G>A			35669874	Q5T4R1	Silent	SNP	ENST00000378357.4	37	CCDS6585.1																																																																																				0.597	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216	
CENPE	1062	hgsc.bcm.edu	37	4	104065688	104065688	+	Silent	SNP	A	A	G			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr4:104065688A>G	ENST00000265148.3	-	33	5034	c.4945T>C	c.(4945-4947)Ttg>Ctg	p.L1649L	CENPE_ENST00000380026.3_Silent_p.L1624L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1649					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.L1649L(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGCTCCTTCAAGTGTTCTATT	0.343																																																1	Substitution - coding silent(1)	ovary(1)	4											118.0	113.0	115.0					4																	104065688		2203	4299	6502	104285137	SO:0001819	synonymous_variant	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.4945T>C	4.37:g.104065688A>G			104285137	A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	CCDS34042.1																																																																																				0.343	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
CTDSP1	58190	hgsc.bcm.edu	37	2	219266330	219266330	+	Silent	SNP	C	C	T			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr2:219266330C>T	ENST00000273062.2	+	2	447	c.111C>T	c.(109-111)ggC>ggT	p.G37G	RP11-378A13.2_ENST00000608367.1_RNA|MIR26B_ENST00000362251.2_RNA|CTDSP1_ENST00000443891.1_Silent_p.G37G|CTDSP1_ENST00000488627.1_3'UTR	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	37					negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|protein dephosphorylation (GO:0006470)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)	p.G37G(1)		NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGCCGGGGCATCCTCCACT	0.637																																																1	Substitution - coding silent(1)	ovary(1)	2											52.0	54.0	53.0					2																	219266330		2203	4300	6503	218974574	SO:0001819	synonymous_variant	58190			AF229162	CCDS2416.1, CCDS56166.1	2q35	2010-06-21			ENSG00000144579	ENSG00000144579		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	21614	protein-coding gene	gene with protein product	"""nuclear LIM interactor-interacting factor"", ""small CTD phosphatase 1"""	605323				11950066, 12721286	Standard	NM_021198		Approved	NLIIF, SCP1	uc021vwv.1	Q9GZU7	OTTHUMG00000133109	ENST00000273062.2:c.111C>T	2.37:g.219266330C>T			218974574	C9IYG0|Q7Z5Q3|Q7Z5Q4	Silent	SNP	ENST00000273062.2	37	CCDS2416.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.704998	0.30232	.	.	ENSG00000144579	ENST00000452977;ENST00000428361;ENST00000431127	.	.	.	5.08	1.89	0.25635	.	.	.	.	.	T	0.55577	0.1929	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48210	-0.9055	4	.	.	.	-33.484	7.8771	0.29599	0.1281:0.6885:0.1113:0.0722	.	.	.	.	V	23;39;107	.	.	A	+	2	0	CTDSP1	218974574	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	0.627000	0.24506	0.544000	0.28883	-0.126000	0.14955	GCA		0.637	CTDSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256774.1	NM_182642, NM_021198	
FGFR1	2260	hgsc.bcm.edu	37	8	38275796	38275796	+	Silent	SNP	G	G	A			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr8:38275796G>A	ENST00000447712.2	-	10	2321	c.1380C>T	c.(1378-1380)gtC>gtT	p.V460V	FGFR1_ENST00000397091.5_Silent_p.V458V|FGFR1_ENST00000356207.5_Silent_p.V371V|FGFR1_ENST00000397113.2_Silent_p.V458V|FGFR1_ENST00000397103.1_Silent_p.V371V|FGFR1_ENST00000532791.1_Silent_p.V458V|FGFR1_ENST00000397108.4_Silent_p.V458V|FGFR1_ENST00000425967.3_Silent_p.V491V|FGFR1_ENST00000326324.6_Silent_p.V369V|FGFR1_ENST00000341462.5_Silent_p.V460V|FGFR1_ENST00000335922.5_Silent_p.V450V	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	460					angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.V460V(2)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CATACTCAGAGACCCCTGCTA	0.542		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)		Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	2	Substitution - coding silent(2)	ovary(2)	8											73.0	78.0	77.0					8																	38275796		2025	4176	6201	38394953	SO:0001819	synonymous_variant	2260			M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.1380C>T	8.37:g.38275796G>A			38394953	A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Silent	SNP	ENST00000447712.2	37	CCDS6107.2																																																																																				0.542	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
GJA5	2702	hgsc.bcm.edu	37	1	147231245	147231245	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr1:147231245C>T	ENST00000271348.2	-	2	263	c.102G>A	c.(100-102)atG>atA	p.M34I	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Missense_Mutation_p.M34I	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	34					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)	p.M34I(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CCAGCACGAGCATACGGAATA	0.557																																																1	Substitution - Missense(1)	ovary(1)	1											101.0	100.0	100.0					1																	147231245		2203	4300	6503	145697869	SO:0001583	missense	2702				CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"""Ion channels / Gap junction proteins (connexins)"""	4279	protein-coding gene	gene with protein product	"""connexin 40"""	121013	"""gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)"""				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.102G>A	1.37:g.147231245C>T	ENSP00000271348:p.Met34Ile		145697869	Q5T3B6|Q5U0N6	Missense_Mutation	SNP	ENST00000271348.2	37	CCDS929.1	.	.	.	.	.	.	.	.	.	.	C	6.091	0.385006	0.11524	.	.	ENSG00000143140	ENST00000271348;ENST00000369237;ENST00000430508	D;D;D	0.98313	-4.86;-4.86;-4.86	5.78	4.87	0.63330	Connexin, N-terminal (1);	0.080516	0.85682	N	0.000000	D	0.85279	0.5660	N	0.01473	-0.845	0.54753	D	0.999988	B	0.20052	0.041	B	0.24269	0.052	T	0.80975	-0.1142	10	0.02654	T	1	.	14.8613	0.70384	0.0:0.9314:0.0:0.0686	.	34	P36382	CXA5_HUMAN	I	34	ENSP00000271348:M34I;ENSP00000358240:M34I;ENSP00000407645:M34I	ENSP00000271348:M34I	M	-	3	0	GJA5	145697869	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.637000	0.54324	1.452000	0.47756	0.563000	0.77884	ATG		0.557	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703	
MCMBP	79892	hgsc.bcm.edu	37	10	121586929	121586929	+	IGR	SNP	G	G	A	rs563867547		TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr10:121586929G>A	ENST00000360003.3	-	0	4113				INPP5F_ENST00000369080.3_Silent_p.S402S|INPP5F_ENST00000361976.2_Silent_p.S1012S	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.S1012S(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						CTCGGCCATCGCAATTAGATG	0.463													g|||	1	0.000199681	0.0	0.0	5008	,	,		21259	0.0		0.0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	ovary(1)	10											129.0	123.0	125.0					10																	121586929		2203	4300	6503	121576919	SO:0001628	intergenic_variant	22876			BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159		10.37:g.121586929G>A			121576919	B3KSP7|Q6IA56|Q9BVT9|Q9H916	Silent	SNP	ENST00000360003.3	37	CCDS7617.1																																																																																				0.463	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834	
KCNK10	54207	hgsc.bcm.edu	37	14	88693873	88693873	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr14:88693873C>G	ENST00000340700.5	-	4	963	c.512G>C	c.(511-513)gGg>gCg	p.G171A	KCNK10_ENST00000319231.5_Missense_Mutation_p.G176A|KCNK10_ENST00000312350.5_Missense_Mutation_p.G176A	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	171					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.G171A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AGCAATATTCCCATACCCTGG	0.393																																																1	Substitution - Missense(1)	ovary(1)	14											81.0	89.0	86.0					14																	88693873		2203	4300	6503	87763626	SO:0001583	missense	54207			AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.512G>C	14.37:g.88693873C>G	ENSP00000343104:p.Gly171Ala		87763626	B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910219	0.92107	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	D;D;D	0.82893	-1.66;-1.66;-1.66	5.91	5.91	0.95273	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	D	0.94178	0.8132	H	0.94503	3.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94917	0.8070	10	0.87932	D	0	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	171;176;176	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	A	171;176;176	ENSP00000343104:G171A;ENSP00000310568:G176A;ENSP00000312811:G176A	ENSP00000310568:G176A	G	-	2	0	KCNK10	87763626	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	GGG		0.393	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161	
MAS1L	116511	hgsc.bcm.edu	37	6	29455532	29455532	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr6:29455532C>T	ENST00000377127.3	-	1	206	c.148G>A	c.(148-150)Gtc>Atc	p.V50I		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	50					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V50I(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TGAAGAAAGACGCCACAGAGC	0.498																																					NSCLC(153;755 1987 3859 11251 32945)											2	Substitution - Missense(2)	ovary(2)	6											89.0	88.0	88.0					6																	29455532		2203	4300	6503	29563511	SO:0001583	missense	116511			S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.148G>A	6.37:g.29455532C>T	ENSP00000366331:p.Val50Ile		29563511	Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	37	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	C	4.103	0.017108	0.07959	.	.	ENSG00000204687	ENST00000377127	T	0.03745	3.82	0.675	-1.35	0.09114	.	.	.	.	.	T	0.00524	0.0017	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.44513	-0.9323	8	0.20519	T	0.43	.	.	.	.	.	50	P35410	MAS1L_HUMAN	I	50	ENSP00000366331:V50I	ENSP00000366331:V50I	V	-	1	0	MAS1L	29563511	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-1.652000	0.01988	-0.526000	0.06383	0.388000	0.25769	GTC		0.498	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967	
MNAT1	4331	hgsc.bcm.edu	37	14	61285490	61285490	+	Silent	SNP	A	A	G			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr14:61285490A>G	ENST00000261245.4	+	6	713	c.612A>G	c.(610-612)agA>agG	p.R204R	MNAT1_ENST00000539616.2_Intron	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	204					7-methylguanosine mRNA capping (GO:0006370)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to calcium ion (GO:0051592)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|ventricular system development (GO:0021591)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|zinc ion binding (GO:0008270)	p.R204R(1)		NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		ATAAAGATAGATCTACCCAAT	0.363								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																																								1	Substitution - coding silent(1)	ovary(1)	14											77.0	77.0	77.0					14																	61285490		2203	4300	6503	60355243	SO:0001819	synonymous_variant	4331			X87843	CCDS9750.1, CCDS53899.1	14q23	2013-07-31	2013-07-31		ENSG00000020426	ENSG00000020426		"""RING-type (C3HC4) zinc fingers"", ""General transcription factor IIH complex subunits"""	7181	protein-coding gene	gene with protein product	"""CDK-activating kinase assembly factor"""	602659	"""menage a trois 1 (CAK assembly factor)"", ""menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis)"""			9465303	Standard	NM_002431		Approved	MAT1, RNF66	uc001xfd.3	P51948	OTTHUMG00000152340	ENST00000261245.4:c.612A>G	14.37:g.61285490A>G			60355243	G3V1U8|Q15817|Q6ICQ7	Silent	SNP	ENST00000261245.4	37	CCDS9750.1																																																																																				0.363	MNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276956.1	NM_002431	
OR5B17	219965	hgsc.bcm.edu	37	11	58126179	58126179	+	Missense_Mutation	SNP	C	C	T	rs372264787		TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr11:58126179C>T	ENST00000357377.3	-	1	363	c.364G>A	c.(364-366)Gca>Aca	p.A122T		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A122T(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CACACTGCTGCGTAGCGGTCA	0.478																																																1	Substitution - Missense(1)	ovary(1)	11						C	THR/ALA	1,4401	2.1+/-5.4	0,1,2200	122.0	110.0	114.0		364	1.4	0.0	11		114	3,8587	3.0+/-9.4	0,3,4292	no	missense	OR5B17	NM_001005489.1	58	0,4,6492	TT,TC,CC		0.0349,0.0227,0.0308	benign	122/315	58126179	4,12988	2201	4295	6496	57882755	SO:0001583	missense	219965			AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.364G>A	11.37:g.58126179C>T	ENSP00000349945:p.Ala122Thr		57882755	Q6IEX1	Missense_Mutation	SNP	ENST00000357377.3	37	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	c	11.79	1.743809	0.30865	2.27E-4	3.49E-4	ENSG00000197786	ENST00000357377	T	0.00402	7.56	3.6	1.36	0.22044	GPCR, rhodopsin-like superfamily (1);	1.037490	0.07744	N	0.947442	T	0.00328	0.0010	L	0.48174	1.505	0.09310	N	1	P	0.44776	0.843	B	0.34536	0.185	T	0.50808	-0.8784	10	0.56958	D	0.05	-0.0087	7.6295	0.28230	0.0:0.7521:0.0:0.2479	.	122	Q8NGF7	OR5BH_HUMAN	T	122	ENSP00000349945:A122T	ENSP00000349945:A122T	A	-	1	0	OR5B17	57882755	0.000000	0.05858	0.008000	0.14137	0.610000	0.37248	-0.861000	0.04268	0.082000	0.17018	0.461000	0.40582	GCA		0.478	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489	
ZNF512B	57473	hgsc.bcm.edu	37	20	62641616	62641616	+	Intron	SNP	A	A	T			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr20:62641616A>T	ENST00000450537.1	-	1	56				PRPF6_ENST00000535781.1_Missense_Mutation_p.E417V|ZNF512B_ENST00000217130.3_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E417V(1)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GAAGAACCTGAAGATGCTAGA	0.567																																																1	Substitution - Missense(1)	ovary(1)	20											111.0	100.0	104.0					20																	62641616		2203	4300	6503	62112060	SO:0001627	intron_variant	24148			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+38441T>A	20.37:g.62641616A>T			62112060	Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.698609	0.88830	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.38560	1.13;1.13	5.99	5.99	0.97316	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.72350	0.3449	H	0.94582	3.555	0.80722	D	1	D;P	0.59767	0.986;0.955	P;P	0.61592	0.891;0.642	T	0.80810	-0.1216	10	0.66056	D	0.02	.	16.4943	0.84223	1.0:0.0:0.0:0.0	.	417;417	O94906-2;O94906	.;PRP6_HUMAN	V	417	ENSP00000266079:E417V;ENSP00000446216:E417V	ENSP00000266079:E417V	E	+	2	0	PRPF6	62112060	1.000000	0.71417	0.866000	0.34008	0.456000	0.32438	8.994000	0.93529	2.291000	0.77112	0.533000	0.62120	GAA		0.567	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713	
SLC2A14	144195	hgsc.bcm.edu	37	12	7970608	7970608	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr12:7970608A>C	ENST00000543909.1	-	15	1922	c.1163T>G	c.(1162-1164)tTt>tGt	p.F388C	SLC2A14_ENST00000340749.5_Missense_Mutation_p.F365C|SLC2A14_ENST00000535295.1_Missense_Mutation_p.F279C|SLC2A14_ENST00000539924.1_Missense_Mutation_p.F403C|SLC2A14_ENST00000542505.1_Missense_Mutation_p.F29C|SLC2A14_ENST00000542546.1_Missense_Mutation_p.F279C|SLC2A14_ENST00000431042.2_Missense_Mutation_p.F365C|SLC2A14_ENST00000396589.2_Missense_Mutation_p.F388C			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	388					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)	p.F388C(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		AATACAGACAAAGCTCATCCC	0.463																																																1	Substitution - Missense(1)	ovary(1)	12											40.0	41.0	41.0					12																	7970608		2203	4300	6503	7861875	SO:0001583	missense	144195			AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1163T>G	12.37:g.7970608A>C	ENSP00000440480:p.Phe388Cys		7861875	B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	A	8.286	0.816601	0.16607	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000542505;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	D;D;D;D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55	3.12	-0.717	0.11208	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.169871	0.53938	D	0.000049	T	0.69424	0.3109	L	0.28556	0.865	0.38894	D	0.957177	B;B;B;B	0.15141	0.012;0.004;0.001;0.003	B;B;B;B	0.20577	0.03;0.021;0.012;0.021	T	0.60627	-0.7226	10	0.87932	D	0	.	6.4599	0.21950	0.3434:0.0:0.0:0.6566	.	403;279;365;388	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	C	365;388;365;29;388;279;279;403	ENSP00000340450:F365C;ENSP00000440480:F388C;ENSP00000407287:F365C;ENSP00000438484:F29C;ENSP00000379834:F388C;ENSP00000440492:F279C;ENSP00000443903:F279C;ENSP00000445929:F403C	ENSP00000340450:F365C	F	-	2	0	SLC2A14	7861875	1.000000	0.71417	0.902000	0.35471	0.417000	0.31264	4.515000	0.60489	0.190000	0.20209	0.164000	0.16699	TTT		0.463	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449	
SREBF2	6721	hgsc.bcm.edu	37	22	42269825	42269825	+	Silent	SNP	C	C	G			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr22:42269825C>G	ENST00000361204.4	+	5	1057	c.891C>G	c.(889-891)acC>acG	p.T297T		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	297	Interaction with LMNA. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T297T(1)		NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GCAGTGGGACCATTCTGACCA	0.522																																																1	Substitution - coding silent(1)	ovary(1)	22											52.0	39.0	44.0					22																	42269825		2203	4300	6503	40599771	SO:0001819	synonymous_variant	6721			U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.891C>G	22.37:g.42269825C>G			40599771	Q05BD5|Q6GTH7|Q86V36|Q9UH04	Silent	SNP	ENST00000361204.4	37	CCDS14023.1																																																																																				0.522	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599	
TDRD7	23424	hgsc.bcm.edu	37	9	100190856	100190856	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr9:100190856G>C	ENST00000355295.4	+	2	404	c.109G>C	c.(109-111)Gac>Cac	p.D37H	TDRD7_ENST00000422139.2_Intron	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	37	HTH OST-type 1. {ECO:0000255|PROSITE- ProRule:PRU00975}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)	p.D37H(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				CTTGACTGGAGACTGGATCCC	0.488																																																1	Substitution - Missense(1)	ovary(1)	9											110.0	104.0	106.0					9																	100190856		2203	4300	6503	99230677	SO:0001583	missense	23424			AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.109G>C	9.37:g.100190856G>C	ENSP00000347444:p.Asp37His		99230677	A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP	ENST00000355295.4	37	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313728	0.81358	.	.	ENSG00000196116	ENST00000355295	T	0.41400	1.0	4.75	4.75	0.60458	.	0.047132	0.85682	D	0.000000	T	0.48132	0.1483	N	0.19112	0.55	0.80722	D	1	D	0.69078	0.997	D	0.64410	0.925	T	0.53049	-0.8493	10	0.66056	D	0.02	-24.7046	16.0463	0.80724	0.0:0.0:1.0:0.0	.	37	Q8NHU6	TDRD7_HUMAN	H	37	ENSP00000347444:D37H	ENSP00000347444:D37H	D	+	1	0	TDRD7	99230677	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.659000	0.83766	2.563000	0.86464	0.591000	0.81541	GAC		0.488	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290	
TMEM132D	121256	hgsc.bcm.edu	37	12	129558988	129558988	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr12:129558988T>A	ENST00000422113.2	-	9	3058	c.2732A>T	c.(2731-2733)aAa>aTa	p.K911I	TMEM132D_ENST00000389441.4_Missense_Mutation_p.K449I	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	911					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.K911I(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCTCAGCCCTTTGGATGCCTG	0.493																																																1	Substitution - Missense(1)	ovary(1)	12											132.0	115.0	121.0					12																	129558988		2203	4300	6503	128124941	SO:0001583	missense	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2732A>T	12.37:g.129558988T>A	ENSP00000408581:p.Lys911Ile		128124941	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	T	13.66	2.304271	0.40795	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.15017	2.46;2.46	4.21	-0.0458	0.13850	.	0.161832	0.41500	D	0.000874	T	0.22003	0.0530	L	0.53249	1.67	0.30599	N	0.76071	D;P	0.53885	0.963;0.896	P;P	0.53809	0.735;0.555	T	0.10177	-1.0641	9	.	.	.	-9.7941	7.4063	0.26993	0.0:0.662:0.0:0.338	.	911;449	Q14C87;Q14C87-2	T132D_HUMAN;.	I	449;911	ENSP00000374092:K449I;ENSP00000408581:K911I	.	K	-	2	0	TMEM132D	128124941	0.992000	0.36948	0.119000	0.21687	0.272000	0.26649	3.100000	0.50275	0.134000	0.18681	0.383000	0.25322	AAA		0.493	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
TNR	7143	hgsc.bcm.edu	37	1	175372583	175372583	+	Silent	SNP	G	G	A			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr1:175372583G>A	ENST00000367674.2	-	4	1377	c.669C>T	c.(667-669)agC>agT	p.S223S	TNR_ENST00000263525.2_Silent_p.S223S			Q92752	TENR_HUMAN	tenascin R	223	Cys-rich.|EGF-like 2.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.S223S(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CGCTGTACTCGCTGTCACAGA	0.627																																																1	Substitution - coding silent(1)	ovary(1)	1											108.0	107.0	107.0					1																	175372583		2203	4300	6503	173639206	SO:0001819	synonymous_variant	7143			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.669C>T	1.37:g.175372583G>A			173639206	C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	CCDS1318.1																																																																																				0.627	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	
XRN1	54464	hgsc.bcm.edu	37	3	142140334	142140334	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr3:142140334A>T	ENST00000264951.4	-	9	1136	c.1019T>A	c.(1018-1020)cTt>cAt	p.L340H	XRN1_ENST00000463916.1_Missense_Mutation_p.L340H|XRN1_ENST00000544157.1_Missense_Mutation_p.L130H|XRN1_ENST00000392981.2_Missense_Mutation_p.L340H|RNU1-100P_ENST00000365255.1_RNA	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	340					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.L340H(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TAGTTTCACAAGGTATTTCTC	0.328																																																1	Substitution - Missense(1)	ovary(1)	3											60.0	59.0	59.0					3																	142140334		2202	4299	6501	143623024	SO:0001583	missense	54464			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.1019T>A	3.37:g.142140334A>T	ENSP00000264951:p.Leu340His		143623024	Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.231265	0.79688	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916;ENST00000544157	T;T	0.50277	0.75;0.76	5.27	5.27	0.74061	.	0.174438	0.51477	D	0.000089	T	0.76219	0.3957	M	0.93150	3.385	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;0.999	D;D;D;D;D	0.76071	0.986;0.952;0.95;0.987;0.971	D	0.83361	0.0002	10	0.87932	D	0	-17.5749	15.1465	0.72657	1.0:0.0:0.0:0.0	.	130;340;201;340;340	B4E2K3;Q8IZH2-3;B3KW17;Q8IZH2-2;Q8IZH2	.;.;.;.;XRN1_HUMAN	H	340;340;340;130	ENSP00000264951:L340H;ENSP00000376707:L340H	ENSP00000264951:L340H	L	-	2	0	XRN1	143623024	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.730000	0.91510	2.118000	0.64928	0.377000	0.23210	CTT		0.328	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001	
KMT2D	8085	hgsc.bcm.edu	37	12	49425260	49425260	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr12:49425260C>A	ENST00000301067.7	-	39	13227	c.13228G>T	c.(13228-13230)Gca>Tca	p.A4410S		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4410					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A4140S(1)									AGTTGGGATGCCTCAGGCACC	0.602																																																1	Substitution - Missense(1)	ovary(1)	12											32.0	32.0	32.0					12																	49425260		2004	4176	6180	47711527	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.13228G>T	12.37:g.49425260C>A	ENSP00000301067:p.Ala4410Ser		47711527	O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	6.842	0.524650	0.13066	.	.	ENSG00000167548	ENST00000301067	T	0.78481	-1.18	5.57	1.55	0.23275	.	0.222761	0.23226	N	0.050503	T	0.55242	0.1908	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.49872	-0.8893	10	0.87932	D	0	.	7.0637	0.25139	0.1586:0.4437:0.3977:0.0	.	4410	O14686	MLL2_HUMAN	S	4410	ENSP00000301067:A4410S	ENSP00000301067:A4410S	A	-	1	0	MLL2	47711527	0.002000	0.14202	0.883000	0.34634	0.925000	0.55904	0.054000	0.14205	0.082000	0.17018	-0.165000	0.13383	GCA		0.602	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
TP53	7157	hgsc.bcm.edu	37	17	7577096	7577096	+	Missense_Mutation	SNP	T	T	C	rs587781525		TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr17:7577096T>C	ENST00000269305.4	-	8	1031	c.842A>G	c.(841-843)gAc>gGc	p.D281G	TP53_ENST00000445888.2_Missense_Mutation_p.D281G|TP53_ENST00000420246.2_Missense_Mutation_p.D281G|TP53_ENST00000455263.2_Missense_Mutation_p.D281G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.D281G|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	281	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.D281G(10)|p.0?(8)|p.D281V(5)|p.?(2)|p.D281fs*63(2)|p.R280_D281delRD(2)|p.D281A(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGTGCGCCGGTCTCTCCCAGG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	44	Substitution - Missense(18)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(4)|Unknown(2)|Complex - frameshift(2)|Complex - insertion inframe(2)	haematopoietic_and_lymphoid_tissue(8)|upper_aerodigestive_tract(7)|breast(5)|lung(5)|ovary(4)|bone(4)|large_intestine(3)|central_nervous_system(3)|stomach(2)|urinary_tract(2)|oesophagus(1)	17	GRCh37	CM004343|CM056068	TP53	M							82.0	70.0	74.0					17																	7577096		2203	4300	6503	7517821	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.842A>G	17.37:g.7577096T>C	ENSP00000269305:p.Asp281Gly		7517821	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	28.5	4.928501	0.92389	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99871	-7.35;-7.35;-7.35;-7.35;-7.35;-7.35	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99876	0.9941	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.998	D;D;D;D	0.97110	0.997;1.0;0.996;0.996	D	0.96385	0.9284	10	0.87932	D	0	-25.6697	12.9367	0.58319	0.0:0.0:0.0:1.0	.	281;281;281;281	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	G	281;281;281;281;281;270;149	ENSP00000352610:D281G;ENSP00000269305:D281G;ENSP00000398846:D281G;ENSP00000391127:D281G;ENSP00000391478:D281G;ENSP00000425104:D149G	ENSP00000269305:D281G	D	-	2	0	TP53	7517821	1.000000	0.71417	0.993000	0.49108	0.970000	0.65996	7.802000	0.85969	2.154000	0.67381	0.379000	0.24179	GAC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
ATRNL1	26033	hgsc.bcm.edu	37	10	117059759	117059759	+	Splice_Site	SNP	T	T	A	rs530243727		TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr10:117059759T>A	ENST00000355044.3	+	16	2755		c.e16+2		ATRNL1_ENST00000303745.7_5'Flank|ATRNL1_ENST00000423111.2_Splice_Site	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1						G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.?(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AACCTGTTGGTAAGTAGTCCA	0.398																																																1	Unknown(1)	ovary(1)	10											59.0	61.0	60.0					10																	117059759		2203	4300	6503	117049749	SO:0001630	splice_region_variant	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2629+2T>A	10.37:g.117059759T>A			117049749	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Splice_Site	SNP	ENST00000355044.3	37	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.978173	0.74360	.	.	ENSG00000107518	ENST00000355044;ENST00000526373	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8142	0.78586	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATRNL1	117049749	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.950000	0.87804	2.197000	0.70478	0.477000	0.44152	.		0.398	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	Intron
CDK5RAP1	51654	hgsc.bcm.edu	37	20	31984680	31984680	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr20:31984680G>T	ENST00000357886.4	-	2	344	c.191C>A	c.(190-192)aCt>aAt	p.T64N	CDK5RAP1_ENST00000477105.1_Intron|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.T64N|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.T64N|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.T64N			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	64	CDK5 activation inhibition.				brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)	p.T64N(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						ATGTTGAAAAGTCGGTCCAGC	0.512																																																1	Substitution - Missense(1)	ovary(1)	20											83.0	84.0	84.0					20																	31984680		2203	4300	6503	31448341	SO:0001583	missense	51654			AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.191C>A	20.37:g.31984680G>T	ENSP00000350558:p.Thr64Asn		31448341	A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Missense_Mutation	SNP	ENST00000357886.4	37		.	.	.	.	.	.	.	.	.	.	G	8.329	0.826109	0.16749	.	.	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000339269;ENST00000544843	.	.	.	5.42	4.45	0.53987	.	0.329618	0.35555	N	0.003133	T	0.36663	0.0975	L	0.46157	1.445	0.21841	N	0.999511	B;B;B;B;B;B	0.30634	0.007;0.288;0.007;0.007;0.003;0.004	B;B;B;B;B;B	0.32533	0.006;0.147;0.006;0.006;0.006;0.014	T	0.27054	-1.0085	9	0.38643	T	0.18	-12.0512	11.2526	0.49034	0.0:0.0:0.8181:0.1819	.	64;64;64;64;64;64	Q675N4;Q96SZ6-4;Q96SZ6;Q675N5;Q53H36;Q96SZ6-3	.;.;CK5P1_HUMAN;.;.;.	N	64	.	ENSP00000341840:T64N	T	-	2	0	CDK5RAP1	31448341	0.969000	0.33509	0.439000	0.26833	0.645000	0.38454	2.115000	0.41921	1.475000	0.48197	0.491000	0.48974	ACT		0.512	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408	
COL6A3	1293	hgsc.bcm.edu	37	2	238303599	238303599	+	Nonsense_Mutation	SNP	C	C	A			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr2:238303599C>A	ENST00000295550.4	-	3	792	c.340G>T	c.(340-342)Gga>Tga	p.G114*	COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000346358.4_Nonsense_Mutation_p.G114*|COL6A3_ENST00000347401.3_Nonsense_Mutation_p.G114*|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000392004.3_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	114	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G114*(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGATTGGTTCCCCCAATATAA	0.463																																																1	Substitution - Nonsense(1)	ovary(1)	2											92.0	97.0	95.0					2																	238303599		2203	4300	6503	237968338	SO:0001587	stop_gained	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.340G>T	2.37:g.238303599C>A	ENSP00000295550:p.Gly114*		237968338	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Nonsense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	40	8.048532	0.98627	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000346358;ENST00000433762	.	.	.	4.81	4.81	0.61882	.	0.000000	0.46145	U	0.000319	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9023	0.88907	0.0:1.0:0.0:0.0	.	.	.	.	X	114	.	ENSP00000295550:G114X	G	-	1	0	COL6A3	237968338	1.000000	0.71417	0.870000	0.34147	0.434000	0.31775	5.904000	0.69886	2.208000	0.71279	0.455000	0.32223	GGA		0.463	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
CTNND2	1501	hgsc.bcm.edu	37	5	10973590	10973590	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr5:10973590G>A	ENST00000304623.8	-	22	3842	c.3653C>T	c.(3652-3654)cCg>cTg	p.P1218L	CTNND2_ENST00000511377.1_Missense_Mutation_p.P1127L|CTNND2_ENST00000359640.2_Missense_Mutation_p.P1160L|CTNND2_ENST00000503622.1_Missense_Mutation_p.P881L|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.P785L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1218					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P1218L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGGGGAGGCCGGGTAGTGGCT	0.542																																																1	Substitution - Missense(1)	ovary(1)	5											50.0	56.0	54.0					5																	10973590		2203	4300	6503	11026590	SO:0001583	missense	1501			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3653C>T	5.37:g.10973590G>A	ENSP00000307134:p.Pro1218Leu		11026590	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181097	0.78677	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	D;D;D;D;T	0.82526	-1.52;-1.62;-1.56;-1.54;-1.49	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.88306	0.6401	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.992	D	0.88846	0.3316	10	0.87932	D	0	-23.6005	20.0522	0.97631	0.0:0.0:1.0:0.0	.	881;810;1218	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	L	1218;1160;1127;313;785;881	ENSP00000307134:P1218L;ENSP00000352661:P1160L;ENSP00000426510:P1127L;ENSP00000391155:P785L;ENSP00000426887:P881L	ENSP00000307134:P1218L	P	-	2	0	CTNND2	11026590	1.000000	0.71417	0.969000	0.41365	0.954000	0.61252	9.476000	0.97823	2.737000	0.93849	0.563000	0.77884	CCG		0.542	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	
EIF2AK3	9451	hgsc.bcm.edu	37	2	88857412	88857412	+	Nonsense_Mutation	SNP	G	G	A			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr2:88857412G>A	ENST00000303236.3	-	17	3494	c.3193C>T	c.(3193-3195)Cga>Tga	p.R1065*	EIF2AK3_ENST00000419748.1_Nonsense_Mutation_p.R914*|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	1065	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)	p.R1064*(1)		ovary(3)	3						GCTTCAGGTCGTTCCATGGGG	0.413																																					GBM(138;671 1851 16235 39058 45249)											1	Substitution - Nonsense(1)	ovary(1)	2											161.0	154.0	157.0					2																	88857412		2203	4300	6503	88638527	SO:0001587	stop_gained	9451			AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.3193C>T	2.37:g.88857412G>A	ENSP00000307235:p.Arg1065*		88638527	A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Nonsense_Mutation	SNP	ENST00000303236.3	37	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	G	40	8.503850	0.98838	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	.	.	.	5.65	3.7	0.42460	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.379	14.4007	0.67044	0.0:0.0:0.5777:0.4223	.	.	.	.	X	914;1065;914;944	.	ENSP00000307235:R1065X	R	-	1	2	EIF2AK3	88638527	0.996000	0.38824	0.940000	0.37924	0.866000	0.49608	1.785000	0.38684	1.483000	0.48342	0.655000	0.94253	CGA		0.413	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836	
EPHB4	2050	hgsc.bcm.edu	37	7	100410422	100410422	+	Missense_Mutation	SNP	C	C	T	rs529340542		TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr7:100410422C>T	ENST00000358173.3	-	12	2533	c.2065G>A	c.(2065-2067)Gtc>Atc	p.V689I	EPHB4_ENST00000477446.1_5'Flank|EPHB4_ENST00000360620.3_Missense_Mutation_p.V689I	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	689	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V689I(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGAATCATGACGGGCATGCTG	0.627																																					GBM(200;2113 3072 25865 52728)											1	Substitution - Missense(1)	ovary(1)	7											88.0	84.0	85.0					7																	100410422		2203	4300	6503	100248358	SO:0001583	missense	2050			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2065G>A	7.37:g.100410422C>T	ENSP00000350896:p.Val689Ile		100248358	B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048239	0.55110	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.61859	0.07;0.07	4.79	4.79	0.61399	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48767	D	0.000166	T	0.53916	0.1826	N	0.02802	-0.49	0.54753	D	0.999981	D;D	0.89917	0.996;1.0	D;D	0.79108	0.97;0.992	T	0.67730	-0.5595	10	0.56958	D	0.05	.	15.6721	0.77286	0.0:1.0:0.0:0.0	.	689;689	Q96L35;P54760	.;EPHB4_HUMAN	I	689	ENSP00000353833:V689I;ENSP00000350896:V689I	ENSP00000350896:V689I	V	-	1	0	EPHB4	100248358	0.997000	0.39634	0.934000	0.37439	0.028000	0.11728	3.649000	0.54417	2.368000	0.80403	0.650000	0.86243	GTC		0.627	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444	
FBXL20	84961	hgsc.bcm.edu	37	17	37425079	37425079	+	Splice_Site	SNP	C	C	T			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr17:37425079C>T	ENST00000264658.6	-	12	1194		c.e12+1		FBXL20_ENST00000577399.1_Splice_Site|FBXL20_ENST00000394294.3_Splice_Site|FBXL20_ENST00000583610.1_Splice_Site	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20						behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)		p.?(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			TACAATCTTACCTGAACACAC	0.333																																																1	Unknown(1)	ovary(1)	17											135.0	129.0	131.0					17																	37425079		2203	4300	6503	34678605	SO:0001630	splice_region_variant	84961			BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"""F-boxes / Leucine-rich repeats"""	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.933+1G>A	17.37:g.37425079C>T			34678605	A8K729|Q38J52	Splice_Site	SNP	ENST00000264658.6	37	CCDS32640.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518841	0.85495	.	.	ENSG00000108306	ENST00000264658;ENST00000394294	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.834	0.88691	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBXL20	34678605	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.747000	0.85070	2.303000	0.77524	0.650000	0.86243	.		0.333	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444315.2	NM_032875	Intron
FNDC3B	64778	hgsc.bcm.edu	37	3	171965365	171965365	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr3:171965365C>T	ENST00000336824.4	+	5	406	c.307C>T	c.(307-309)Ccc>Tcc	p.P103S	FNDC3B_ENST00000416957.1_Missense_Mutation_p.P103S|FNDC3B_ENST00000415807.2_Missense_Mutation_p.P103S	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	103					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)	p.P103S(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GGTGGTCACACCCCAGTCTCC	0.458																																																1	Substitution - Missense(1)	ovary(1)	3											168.0	148.0	155.0					3																	171965365		2203	4300	6503	173448059	SO:0001583	missense	64778			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.307C>T	3.37:g.171965365C>T	ENSP00000338523:p.Pro103Ser		173448059	B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129952	0.94473	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957;ENST00000443501	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.60741	0.2292	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.983	T	0.62334	-0.6876	10	0.87932	D	0	-14.3507	20.2192	0.98319	0.0:1.0:0.0:0.0	.	103;103	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	S	103;103;103;76	ENSP00000411242:P103S;ENSP00000338523:P103S;ENSP00000389094:P103S;ENSP00000389064:P76S	ENSP00000338523:P103S	P	+	1	0	FNDC3B	173448059	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.219000	0.78000	2.780000	0.95670	0.655000	0.94253	CCC		0.458	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763	
ITGB7	3695	hgsc.bcm.edu	37	12	53585702	53585702	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr12:53585702A>G	ENST00000267082.5	-	15	2488	c.2257T>C	c.(2257-2259)Tat>Cat	p.Y753H	ITGB7_ENST00000550743.2_Missense_Mutation_p.Y605H|ITGB7_ENST00000338737.4_Missense_Mutation_p.Y605H|ITGB7_ENST00000422257.3_Missense_Mutation_p.Y753H	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	753					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)	p.Y753H(1)		NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGGCGGTCATAGATTTCCACC	0.597																																																1	Substitution - Missense(1)	ovary(1)	12											56.0	57.0	57.0					12																	53585702		2203	4300	6503	51871969	SO:0001583	missense	3695				CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.2257T>C	12.37:g.53585702A>G	ENSP00000267082:p.Tyr753His		51871969	Q9UCP7|Q9UCS7	Missense_Mutation	SNP	ENST00000267082.5	37	CCDS8849.1	.	.	.	.	.	.	.	.	.	.	A	13.47	2.247410	0.39697	.	.	ENSG00000139626	ENST00000422257;ENST00000267082;ENST00000338737	D;D;D	0.86230	-2.09;-2.09;-2.09	4.86	4.86	0.63082	Integrin beta subunit, cytoplasmic (2);	0.000000	0.38548	N	0.001645	T	0.77370	0.4120	N	0.20574	0.59	0.32126	N	0.587357	P	0.36199	0.543	B	0.39660	0.306	T	0.74368	-0.3688	10	0.02654	T	1	.	13.7769	0.63059	1.0:0.0:0.0:0.0	.	753	P26010	ITB7_HUMAN	H	753;753;605	ENSP00000408741:Y753H;ENSP00000267082:Y753H;ENSP00000345501:Y605H	ENSP00000267082:Y753H	Y	-	1	0	ITGB7	51871969	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.980000	0.49321	1.970000	0.57323	0.533000	0.62120	TAT		0.597	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2		
KCNJ1	3758	hgsc.bcm.edu	37	11	128709991	128709991	+	Frame_Shift_Del	DEL	A	A	-			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr11:128709991delA	ENST00000392664.2	-	2	321	c.205delT	c.(205-207)tggfs	p.W69fs	KCNJ1_ENST00000392665.2_Frame_Shift_Del_p.W50fs|KCNJ1_ENST00000392666.1_Frame_Shift_Del_p.W50fs|KCNJ1_ENST00000324036.3_Frame_Shift_Del_p.W50fs|KCNJ1_ENST00000440599.2_Frame_Shift_Del_p.W50fs	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	69					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.W69fs*13(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	ACCGTTGTCCAGATGTCCACA	0.443																																																1	Deletion - Frameshift(1)	ovary(1)	11											189.0	176.0	180.0					11																	128709991		2201	4297	6498	128215201	SO:0001589	frameshift_variant	3758			BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.205delT	11.37:g.128709991delA	ENSP00000376432:p.Trp69fs		128215201	B2RMR4|Q6LD67	Frame_Shift_Del	DEL	ENST00000392664.2	37	CCDS8476.1																																																																																				0.443	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220	
MMP1	4312	hgsc.bcm.edu	37	11	102663432	102663432	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr11:102663432C>G	ENST00000315274.6	-	7	1004	c.937G>C	c.(937-939)Gag>Cag	p.E313Q	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	313					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E313Q(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	AAATTGAGCTCAACTTCCGGG	0.408																																																1	Substitution - Missense(1)	ovary(1)	11											119.0	119.0	119.0					11																	102663432		2203	4299	6502	102168642	SO:0001583	missense	4312			X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.937G>C	11.37:g.102663432C>G	ENSP00000322788:p.Glu313Gln		102168642	P08156	Missense_Mutation	SNP	ENST00000315274.6	37	CCDS8322.1	.	.	.	.	.	.	.	.	.	.	c	18.43	3.622298	0.66787	.	.	ENSG00000196611	ENST00000315274	T	0.02812	4.15	6.16	6.16	0.99307	Hemopexin/matrixin (2);	0.259487	0.33346	N	0.005016	T	0.05868	0.0153	L	0.60012	1.86	0.58432	D	0.999996	D	0.56287	0.975	P	0.44946	0.465	T	0.04678	-1.0934	10	0.66056	D	0.02	.	12.6979	0.57014	0.0:0.9251:0.0:0.0749	.	313	P03956	MMP1_HUMAN	Q	313	ENSP00000322788:E313Q	ENSP00000322788:E313Q	E	-	1	0	MMP1	102168642	0.995000	0.38212	0.990000	0.47175	0.502000	0.33828	5.027000	0.64109	2.937000	0.99478	0.650000	0.86243	GAG		0.408	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421	
NUPL1	9818	hgsc.bcm.edu	37	13	25910372	25910372	+	Intron	SNP	C	C	A			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr13:25910372C>A	ENST00000381736.3	+	14	1685				NUPL1_ENST00000463407.1_3'UTR|NUPL1_ENST00000381718.3_Intron|NUPL1_ENST00000466694.1_Intron	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		TGTAATGTAGCAGAGCTTAAG	0.303																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)											0			13											124.0	121.0	122.0					13																	25910372		2200	4299	6499	24808372	SO:0001627	intron_variant	9818			AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.1436-702C>A	13.37:g.25910372C>A			24808372	A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	ENST00000381736.3	37	CCDS9314.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.391069	0.42410	.	.	ENSG00000139496	ENST00000381745;ENST00000381747;ENST00000394327	T;T	0.52526	1.27;0.66	5.6	5.6	0.85130	.	.	.	.	.	T	0.66809	0.2827	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68884	-0.5291	6	0.62326	D	0.03	.	17.7846	0.88533	0.0:1.0:0.0:0.0	.	.	.	.	E	474;486;433	ENSP00000371166:A486E;ENSP00000408147:A433E	ENSP00000371164:A474E	A	+	2	0	NUPL1	24808372	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.521000	0.45563	2.628000	0.89032	0.655000	0.94253	GCA		0.303	NUPL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044228.2		
RBM10	8241	hgsc.bcm.edu	37	X	47028833	47028833	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chrX:47028833G>A	ENST00000377604.3	+	3	879	c.137G>A	c.(136-138)cGc>cAc	p.R46H	RBM10_ENST00000345781.6_Missense_Mutation_p.R46H|RBM10_ENST00000329236.7_Missense_Mutation_p.R46H	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	46					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)	p.R46H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TCATATCCTCGCGAGTATGGC	0.637																																					Melanoma(171;120 2705 19495 39241)											1	Substitution - Missense(1)	ovary(1)	X											91.0	58.0	69.0					X																	47028833		2203	4300	6503	46913777	SO:0001583	missense	8241			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.137G>A	X.37:g.47028833G>A	ENSP00000366829:p.Arg46His		46913777	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907271	0.72868	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.20069	2.52;2.1;2.34	4.65	4.65	0.58169	.	0.263378	0.31936	N	0.006822	T	0.30355	0.0762	N	0.24115	0.695	0.26362	N	0.977035	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.999	D;P;D;D;D	0.76071	0.984;0.902;0.955;0.984;0.987	T	0.06162	-1.0842	10	0.49607	T	0.09	-10.6527	12.3651	0.55224	0.0:0.0:1.0:0.0	.	46;111;46;46;46	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	H	46	ENSP00000366829:R46H;ENSP00000328848:R46H;ENSP00000329659:R46H	ENSP00000328848:R46H	R	+	2	0	RBM10	46913777	1.000000	0.71417	0.766000	0.31476	0.734000	0.41952	6.182000	0.71995	2.056000	0.61249	0.513000	0.50165	CGC		0.637	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676	
TTC33	23548	hgsc.bcm.edu	37	5	40716408	40716408	+	Nonsense_Mutation	SNP	C	C	A			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr5:40716408C>A	ENST00000337702.4	-	5	780	c.628G>T	c.(628-630)Gag>Tag	p.E210*	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	210								p.E210*(1)		NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GCAACAATCTCATCACTTTCA	0.408																																																1	Substitution - Nonsense(1)	ovary(1)	5											120.0	106.0	111.0					5																	40716408		2203	4300	6503	40752165	SO:0001587	stop_gained	23548			BC015701	CCDS3931.1	5p13.1	2013-01-11			ENSG00000113638	ENSG00000113638		"""Tetratricopeptide (TTC) repeat domain containing"""	29959	protein-coding gene	gene with protein product	"""osmosis responsive factor"""					12477932	Standard	NM_012382		Approved	OSRF	uc003jma.3	Q6PID6	OTTHUMG00000131142	ENST00000337702.4:c.628G>T	5.37:g.40716408C>A	ENSP00000338533:p.Glu210*		40752165	B2R6G0|O95105	Nonsense_Mutation	SNP	ENST00000337702.4	37	CCDS3931.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879925	0.91740	.	.	ENSG00000113638	ENST00000337702	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-23.8489	19.4191	0.94713	0.0:1.0:0.0:0.0	.	.	.	.	X	210	.	ENSP00000338533:E210X	E	-	1	0	TTC33	40752165	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.294000	0.72738	2.594000	0.87642	0.650000	0.86243	GAG		0.408	TTC33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253831.1	NM_012382	
VPS13A	23230	hgsc.bcm.edu	37	9	79929533	79929533	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1023-01A-03W-0484-10	TCGA-23-1023-10A-01W-0484-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	1da8c6bd-59a5-4a23-b2ed-7a4577bfd0ca	a774e1af-ce60-43a8-9426-3c8012423ef5	g.chr9:79929533C>G	ENST00000360280.3	+	37	4625	c.4365C>G	c.(4363-4365)aaC>aaG	p.N1455K	VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Missense_Mutation_p.N1455K|VPS13A_ENST00000357409.5_Missense_Mutation_p.N1455K|VPS13A_ENST00000376636.3_Missense_Mutation_p.N1416K	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1455					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.N1455K(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CATTAAAAAACTGTATTTTAG	0.294																																																1	Substitution - Missense(1)	ovary(1)	9											55.0	58.0	57.0					9																	79929533		2200	4294	6494	79119353	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.4365C>G	9.37:g.79929533C>G	ENSP00000353422:p.Asn1455Lys		79119353	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630887	0.46944	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.46063	1.06;0.88;0.96;1.06	5.59	0.64	0.17752	.	0.375086	0.25747	N	0.028561	T	0.32496	0.0831	L	0.50333	1.59	0.80722	D	1	P;P;P;P	0.47762	0.696;0.704;0.9;0.9	B;B;B;B	0.42522	0.358;0.231;0.39;0.39	T	0.04737	-1.0930	10	0.42905	T	0.14	.	5.748	0.18130	0.1212:0.5295:0.0:0.3493	.	1416;1455;1455;1455	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	K	1455;1416;1455;1455	ENSP00000365821:N1455K;ENSP00000365823:N1416K;ENSP00000353422:N1455K;ENSP00000349985:N1455K	ENSP00000349985:N1455K	N	+	3	2	VPS13A	79119353	0.169000	0.23002	0.997000	0.53966	0.991000	0.79684	-0.521000	0.06245	0.057000	0.16193	0.557000	0.71058	AAC		0.294	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
