#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_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_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_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	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
HNRNPF	3185	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	43882166	43882166	+	Silent	SNP	G	G	A	rs375590998		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr10:43882166G>A	ENST00000544000.1	-	4	1574	c.1167C>T	c.(1165-1167)taC>taT	p.Y389Y	HNRNPF_ENST00000357065.4_Silent_p.Y389Y|HNRNPF_ENST00000337970.3_Silent_p.Y389Y|HNRNPF_ENST00000356053.3_Silent_p.Y389Y|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000443950.2_Silent_p.Y389Y	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	389					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.Y389Y(4)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						CCAGGCCACTGTAAGTGGCCT	0.537																																																4	Substitution - coding silent(4)	lung(4)						G	,,,,,	1,4405	2.1+/-5.4	0,1,2202	59.0	72.0	68.0		1167,1167,1167,1167,1167,1167	-0.4	0.8	10		68	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HNRNPF	NM_001098204.1,NM_001098205.1,NM_001098206.1,NM_001098207.1,NM_001098208.1,NM_004966.3	,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,	389/416,389/416,389/416,389/416,389/416,389/416	43882166	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3185				CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.1167C>T	10.37:g.43882166G>A			B3KM84|Q5T0N2|Q96AU2	Silent	SNP	ENST00000544000.1	37	CCDS7204.1																																																																																				0.537	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2			121	148	121	148
PAX2	5076	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	102541110	102541110	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr10:102541110A>G	ENST00000428433.1	+	5	1154	c.604A>G	c.(604-606)Aaa>Gaa	p.K202E	PAX2_ENST00000553492.1_3'UTR|PAX2_ENST00000361791.3_Missense_Mutation_p.K202E|PAX2_ENST00000370296.2_Missense_Mutation_p.K202E|PAX2_ENST00000355243.3_Missense_Mutation_p.K202E|PAX2_ENST00000556085.1_Missense_Mutation_p.K201E	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	202					aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|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)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TGAGAAGAGGAAACGTGATGA	0.587																																																0													147.0	131.0	137.0					10																	102541110		2203	4300	6503	SO:0001583	missense	5076				CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.604A>G	10.37:g.102541110A>G	ENSP00000396259:p.Lys202Glu		Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Missense_Mutation	SNP	ENST00000428433.1	37	CCDS53569.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.592211	0.86953	.	.	ENSG00000075891	ENST00000370294;ENST00000370296;ENST00000428433;ENST00000361791;ENST00000355243;ENST00000556085;ENST00000427256	D;D;D;D;D;D	0.98028	-4.06;-4.15;-4.15;-4.12;-4.12;-4.67	5.61	5.61	0.85477	.	0.242156	0.39834	N	0.001245	D	0.98388	0.9464	M	0.72353	2.195	0.58432	D	0.999998	D;D;D;D	0.71674	0.998;0.988;0.998;0.998	D;D;D;D	0.85130	0.997;0.99;0.993;0.996	D	0.98936	1.0789	10	0.48119	T	0.1	.	14.9901	0.71381	1.0:0.0:0.0:0.0	.	201;202;202;202	G3V5U4;Q02962-3;Q02962;Q02962-4	.;.;PAX2_HUMAN;.	E	94;202;202;202;202;201;202	ENSP00000359319:K202E;ENSP00000396259:K202E;ENSP00000355069:K202E;ENSP00000347385:K202E;ENSP00000452527:K201E;ENSP00000398652:K202E	ENSP00000347385:K202E	K	+	1	0	PAX2	102531100	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.131000	0.65755	0.533000	0.62120	AAA		0.587	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				26	192	26	192
PWWP2B	170394	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	134219372	134219372	+	Silent	SNP	G	G	A			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr10:134219372G>A	ENST00000305233.5	+	2	1427	c.1368G>A	c.(1366-1368)tcG>tcA	p.S456S	PWWP2B_ENST00000368609.4_Silent_p.S456S	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	456										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CAGCGCCCTCGGTGTCCAGAG	0.701																																																0													38.0	38.0	38.0					10																	134219372		2198	4296	6494	SO:0001819	synonymous_variant	170394			AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1368G>A	10.37:g.134219372G>A			A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	37	CCDS7667.2																																																																																				0.701	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		35	60	35	60
OR51Q1	390061	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	5444223	5444223	+	Missense_Mutation	SNP	C	C	T	rs376977023		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr11:5444223C>T	ENST00000300778.4	+	1	883	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATGACTCATCGCTTTGCCAA	0.517																																																0								C	CYS/ARG	2,4400	4.2+/-10.8	0,2,2199	134.0	110.0	118.0		793	4.1	0.8	11		118	0,8594		0,0,4297	no	missense	OR51Q1	NM_001004757.2	180	0,2,6496	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	265/318	5444223	2,12994	2201	4297	6498	SO:0001583	missense	390061			AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.793C>T	11.37:g.5444223C>T	ENSP00000300778:p.Arg265Cys		B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008859	0.35415	4.54E-4	0.0	ENSG00000167360	ENST00000300778	T	0.37411	1.2	5.0	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000024	T	0.45013	0.1321	M	0.89715	3.055	0.36616	D	0.875486	P	0.38535	0.635	B	0.35114	0.196	T	0.63129	-0.6706	10	0.87932	D	0	.	11.5665	0.50809	0.3238:0.6762:0.0:0.0	.	265	Q8NH59	O51Q1_HUMAN	C	265	ENSP00000300778:R265C	ENSP00000300778:R265C	R	+	1	0	OR51Q1	5400799	0.000000	0.05858	0.773000	0.31616	0.954000	0.61252	-0.604000	0.05667	1.318000	0.45170	0.380000	0.24917	CGC		0.517	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		29	50	29	50
STK38L	23012	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	27467498	27467498	+	Silent	SNP	C	C	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr12:27467498C>T	ENST00000389032.3	+	7	748	c.579C>T	c.(577-579)taC>taT	p.Y193Y	STK38L_ENST00000539577.1_Silent_p.Y100Y	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					CACAGTTCTACATTTCAGAGA	0.383																																																0													117.0	105.0	109.0					12																	27467498		2203	4300	6503	SO:0001819	synonymous_variant	23012			AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"""nuclear Dbf2-related 2"""	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.579C>T	12.37:g.27467498C>T				Silent	SNP	ENST00000389032.3	37	CCDS31761.1																																																																																				0.383	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403297.1	NM_015000		10	49	10	49
SPG7	6687	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	89620236	89620236	+	Silent	SNP	C	C	T	rs140356355	byFrequency	TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr16:89620236C>T	ENST00000268704.2	+	15	1986	c.1971C>T	c.(1969-1971)atC>atT	p.I657I		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	657					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TCACCCGCATCGCCTACTCCA	0.677																																																0								T		0,4396		0,0,2198	96.0	75.0	82.0		1971	-10.1	0.0	16	dbSNP_134	82	1,8599		0,1,4299	no	coding-synonymous	SPG7	NM_003119.2		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		657/796	89620236	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	6687			Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1971C>T	16.37:g.89620236C>T			O75756|Q2TB70|Q58F00|Q96IB0	Silent	SNP	ENST00000268704.2	37	CCDS10977.1																																																																																				0.677	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		37	122	37	122
CTDNEP1	23399	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7150176	7150176	+	Silent	SNP	T	T	C			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr17:7150176T>C	ENST00000573600.1	-	5	715	c.294A>G	c.(292-294)gtA>gtG	p.V98V	CTDNEP1_ENST00000574322.1_Silent_p.V98V|CTD-2545G14.7_ENST00000570760.2_5'Flank|CTDNEP1_ENST00000318988.6_Silent_p.V98V|CTDNEP1_ENST00000572043.1_5'UTR|RP1-4G17.5_ENST00000577138.1_3'UTR			O95476	CNEP1_HUMAN	CTD nuclear envelope phosphatase 1	98	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				gamete generation (GO:0007276)|mesoderm development (GO:0007498)|nuclear envelope organization (GO:0006998)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein dephosphorylation (GO:0006470)|protein localization to nucleus (GO:0034504)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						GTTTGTCTATTACCACCTACA	0.512																																																0													114.0	131.0	125.0					17																	7150176		2202	4299	6501	SO:0001819	synonymous_variant	23399			AJ011916	CCDS11093.1	17p13	2012-11-27	2010-10-27	2010-10-27	ENSG00000175826	ENSG00000175826		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	19085	protein-coding gene	gene with protein product	"""C-terminal domain nuclear envelope phosphatase 1"""	610684	"""dullard homolog (Xenopus laevis)"""	DULLARD		12083771, 17141153	Standard	NM_015343		Approved	HSA011916, NET56	uc002gfd.2	O95476	OTTHUMG00000102180	ENST00000573600.1:c.294A>G	17.37:g.7150176T>C			D3DTN7|Q96GQ9	Silent	SNP	ENST00000573600.1	37	CCDS11093.1																																																																																				0.512	CTDNEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440215.1	NM_015343		159	174	159	174
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and 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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		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"""	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102.0	94.0	97.0					17																	7578190		2203	4300	6503	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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys		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	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	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	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		46	5	46	5
ZNF560	147741	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	9577986	9577986	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr19:9577986C>T	ENST00000301480.4	-	10	1850	c.1637G>A	c.(1636-1638)tGt>tAt	p.C546Y		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	546					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ACATTTCTTACATTGATAGAG	0.398																																																0													96.0	93.0	94.0					19																	9577986		2203	4300	6503	SO:0001583	missense	147741			AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1637G>A	19.37:g.9577986C>T	ENSP00000301480:p.Cys546Tyr		Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111176	0.37242	.	.	ENSG00000198028	ENST00000301480	D	0.85088	-1.94	2.05	2.05	0.26809	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.91520	0.7322	M	0.83012	2.62	0.29984	N	0.817448	D	0.89917	1.0	D	0.97110	1.0	D	0.85618	0.1262	9	0.87932	D	0	.	10.1291	0.42667	0.0:1.0:0.0:0.0	.	546	Q96MR9	ZN560_HUMAN	Y	546	ENSP00000301480:C546Y	ENSP00000301480:C546Y	C	-	2	0	ZNF560	9438986	0.987000	0.35691	0.012000	0.15200	0.006000	0.05464	3.711000	0.54868	1.446000	0.47643	0.491000	0.48974	TGT		0.398	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		59	81	59	81
IL12RB1	3594	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	18184406	18184406	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr19:18184406T>G	ENST00000600835.2	-	9	1002	c.704A>C	c.(703-705)aAc>aCc	p.N235T	IL12RB1_ENST00000322153.7_Missense_Mutation_p.N235T|IL12RB1_ENST00000593993.2_Missense_Mutation_p.N235T			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	235					cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CTGTGGGGGGTTTTCTGCAAT	0.512																																																0													34.0	31.0	32.0					19																	18184406		2203	4300	6503	SO:0001583	missense	3594			U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.704A>C	19.37:g.18184406T>G	ENSP00000470788:p.Asn235Thr		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	ENST00000600835.2	37	CCDS54232.1	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.789149	0.00623	.	.	ENSG00000096996	ENST00000430026;ENST00000322153	T;T	0.57273	0.41;0.41	3.06	-6.12	0.02124	.	3.476630	0.01080	N	0.004970	T	0.30008	0.0751	N	0.22421	0.69	0.09310	N	1	B;B;B	0.13594	0.008;0.002;0.005	B;B;B	0.12156	0.007;0.002;0.003	T	0.29579	-1.0007	10	0.13470	T	0.59	0.005	0.8388	0.01145	0.3736:0.1015:0.2224:0.3026	.	235;235;235	P42701-2;P42701-3;P42701	.;.;I12R1_HUMAN	T	235	ENSP00000403103:N235T;ENSP00000314425:N235T	ENSP00000314425:N235T	N	-	2	0	IL12RB1	18045406	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.131000	0.00148	-2.977000	0.00284	-0.396000	0.06452	AAC		0.512	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			7	33	7	33
KIR2DL3	3804	hgsc.bcm.edu;broad.mit.edu	37	19	55255285	55255285	+	Missense_Mutation	SNP	C	C	T	rs575503782	byFrequency	TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr19:55255285C>T	ENST00000342376.3	+	4	444	c.413C>T	c.(412-414)aCg>aTg	p.T138M	KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.T138M	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	138					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CCGGGCCCCACGGTTCTGGCA	0.567													.|||	3	0.000599042	0.0	0.0	5008	,	,		12390	0.0		0.0	False		,,,				2504	0.0031															0													48.0	58.0	54.0					19																	55255285		1216	2373	3589	SO:0001583	missense	3804			L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.413C>T	19.37:g.55255285C>T	ENSP00000342215:p.Thr138Met		O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	ENST00000342376.3	37	CCDS33107.1	.	.	.	.	.	.	.	.	.	.	C	3.185	-0.167064	0.06461	.	.	ENSG00000243772	ENST00000342376;ENST00000434419	T;T	0.13538	2.58;2.58	1.28	-2.56	0.06268	Immunoglobulin subtype (2);Immunoglobulin-like fold (2);	.	.	.	.	T	0.10165	0.0249	L	0.45051	1.395	0.09310	N	1	B;P;B;B	0.36712	0.012;0.566;0.032;0.032	B;B;B;B	0.36244	0.018;0.22;0.022;0.022	T	0.09058	-1.0692	9	0.66056	D	0.02	.	3.7601	0.08601	0.0:0.2806:0.3988:0.3206	.	138;138;138;138	E3NZD7;P43627;P43628;E3NZD8	.;KI2L2_HUMAN;KI2L3_HUMAN;.	M	138	ENSP00000342215:T138M;ENSP00000415758:T138M	ENSP00000342215:T138M	T	+	2	0	KIR2DL3	59947097	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-1.905000	0.01591	-1.902000	0.01094	0.184000	0.17185	ACG		0.567	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1			37	30	37	30
MEGF6	1953	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	3428609	3428609	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr1:3428609C>A	ENST00000356575.4	-	8	1163	c.937G>T	c.(937-939)Gcg>Tcg	p.A313S	MEGF6_ENST00000294599.4_Missense_Mutation_p.A208S	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	313	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		A -> V (in dbSNP:rs11585362).			extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TCATAGCCCGCGTGACACACG	0.667																																					Ovarian(73;978 3658)											0													50.0	60.0	56.0					1																	3428609		2121	4214	6335	SO:0001583	missense	1953			AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.937G>T	1.37:g.3428609C>A	ENSP00000348982:p.Ala313Ser		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	C	8.394	0.840412	0.16891	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.91843	-2.92;-2.92	4.63	1.57	0.23409	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.130150	0.51477	D	0.000097	D	0.83755	0.5323	L	0.28740	0.885	0.09310	N	1	P;P	0.47484	0.896;0.79	B;B	0.42593	0.392;0.33	T	0.74797	-0.3543	10	0.22109	T	0.4	-5.9456	6.0623	0.19844	0.0:0.406:0.3764:0.2176	.	313;208	O75095;O75095-2	MEGF6_HUMAN;.	S	208;313	ENSP00000294599:A208S;ENSP00000348982:A313S	ENSP00000294599:A208S	A	-	1	0	MEGF6	3418469	0.067000	0.21026	0.013000	0.15412	0.035000	0.12851	0.326000	0.19646	0.387000	0.25024	-0.332000	0.08345	GCG		0.667	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		76	74	76	74
CYB5RL	606495	hgsc.bcm.edu;ucsc.edu	37	1	54661191	54661191	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr1:54661191G>T	ENST00000534324.1	-	1	98	c.99C>A	c.(97-99)tgC>tgA	p.C33*	CYB5RL_ENST00000401046.3_5'UTR|CYB5RL_ENST00000287899.8_Nonsense_Mutation_p.C33*|RP11-446E24.4_ENST00000311841.7_Nonsense_Mutation_p.C33*|CYB5RL_ENST00000542737.1_Nonsense_Mutation_p.C33*|MRPL37_ENST00000487096.1_Intron|CYB5RL_ENST00000497820.1_Nonsense_Mutation_p.C33*|CYB5RL_ENST00000537208.1_Nonsense_Mutation_p.C33*|CYB5RL_ENST00000419823.2_Nonsense_Mutation_p.C33*			Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	33	Oxidoreductase-like.						cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						CACAGGGTGAGCAGCCACTGC	0.612																																																0													80.0	82.0	81.0					1																	54661191		2076	4211	6287	SO:0001587	stop_gained	606495				CCDS44151.1	1p32.3	2011-04-08			ENSG00000215883	ENSG00000215883			32220	protein-coding gene	gene with protein product						12477932	Standard	NM_001031672		Approved	LOC606495	uc009vzo.3	Q6IPT4	OTTHUMG00000008082	ENST00000534324.1:c.99C>A	1.37:g.54661191G>T	ENSP00000434343:p.Cys33*		B7ZBS4|Q8NF25	Nonsense_Mutation	SNP	ENST00000534324.1	37	CCDS44151.1	.	.	.	.	.	.	.	.	.	.	G	40	8.152039	0.98678	.	.	ENSG00000215883	ENST00000419823;ENST00000534324;ENST00000287899;ENST00000542737;ENST00000537208;ENST00000497820	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.9495	15.6922	0.77464	0.0:0.0:1.0:0.0	.	.	.	.	X	33	.	ENSP00000287899:C33X	C	-	3	2	CYB5RL	54433779	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.067000	0.50010	2.689000	0.91719	0.561000	0.74099	TGC		0.612	CYB5RL-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388318.1	NM_001031672		52	69	52	69
IPO9	55705	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	201841994	201841994	+	Missense_Mutation	SNP	A	A	G	rs141172151		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr1:201841994A>G	ENST00000361565.4	+	20	2684	c.2615A>G	c.(2614-2616)aAt>aGt	p.N872S		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	872					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CATGGCATCAATGCAGATGAC	0.527																																																0								A	SER/ASN	0,4406		0,0,2203	101.0	99.0	100.0		2615	2.9	1.0	1	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense	IPO9	NM_018085.4	46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	872/1042	201841994	1,13005	2203	4300	6503	SO:0001583	missense	55705			AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2615A>G	1.37:g.201841994A>G	ENSP00000354742:p.Asn872Ser		B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	A	11.41	1.629930	0.28978	0.0	1.16E-4	ENSG00000198700	ENST00000361565	T	0.66638	-0.22	5.23	2.86	0.33363	Armadillo-like helical (1);Armadillo-type fold (1);	0.086330	0.85682	D	0.000000	T	0.35998	0.0951	N	0.03238	-0.38	0.45822	D	0.998695	B	0.09022	0.002	B	0.04013	0.001	T	0.32348	-0.9910	10	0.02654	T	1	-14.2713	11.0422	0.47838	0.572:0.428:0.0:0.0	.	872	Q96P70	IPO9_HUMAN	S	872	ENSP00000354742:N872S	ENSP00000354742:N872S	N	+	2	0	IPO9	200108617	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	4.609000	0.61148	0.379000	0.24794	0.533000	0.62120	AAT		0.527	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		22	87	22	87
OR2T12	127064	hgsc.bcm.edu;broad.mit.edu	37	1	248458438	248458438	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr1:248458438A>G	ENST00000317996.1	-	1	442	c.443T>C	c.(442-444)cTc>cCc	p.L148P		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L148H(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TGCACCCAGGAGCCAGGACGA	0.612																																																1	Substitution - Missense(1)	ovary(1)											59.0	67.0	64.0					1																	248458438		2176	4297	6473	SO:0001583	missense	127064			BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.443T>C	1.37:g.248458438A>G	ENSP00000324583:p.Leu148Pro			Missense_Mutation	SNP	ENST00000317996.1	37	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	a	12.08	1.829802	0.32329	.	.	ENSG00000177201	ENST00000317996	T	0.45276	0.9	1.55	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.729752	0.11158	U	0.593361	T	0.67534	0.2903	M	0.93241	3.395	0.44985	D	0.998008	D	0.57257	0.979	D	0.65573	0.936	T	0.66340	-0.5948	10	0.87932	D	0	.	6.3786	0.21521	0.6446:0.3553:0.0:0.0	.	148	Q8NG77	O2T12_HUMAN	P	148	ENSP00000324583:L148P	ENSP00000324583:L148P	L	-	2	0	OR2T12	246525061	0.000000	0.05858	0.077000	0.20336	0.209000	0.24338	0.557000	0.23454	0.540000	0.28808	0.147000	0.16070	CTC		0.612	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		68	83	68	83
PRR30	339779	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	27360157	27360157	+	Silent	SNP	G	G	A			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr2:27360157G>A	ENST00000335524.3	-	3	1566	c.1041C>T	c.(1039-1041)gcC>gcT	p.A347A	PREB_ENST00000406567.3_5'Flank|PREB_ENST00000260643.2_5'Flank|PREB_ENST00000416802.1_5'Flank	NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		347										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACTGGGTCGGCCCGGGCCT	0.637																																																0													84.0	82.0	82.0					2																	27360157		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000335524.3:c.1041C>T	2.37:g.27360157G>A			Q86UE2	Silent	SNP	ENST00000335524.3	37	CCDS1739.1																																																																																				0.637	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1			39	110	39	110
FAM126B	285172	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	201876188	201876188	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr2:201876188G>A	ENST00000418596.3	-	6	528	c.341C>T	c.(340-342)gCt>gTt	p.A114V	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	114						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						ATCTTTATCAGCGATTTCCTA	0.303																																																0													38.0	37.0	37.0					2																	201876188		2203	4275	6478	SO:0001583	missense	285172			BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.341C>T	2.37:g.201876188G>A	ENSP00000393667:p.Ala114Val		B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	ENST00000418596.3	37	CCDS2335.1	.	.	.	.	.	.	.	.	.	.	G	8.696	0.908636	0.17833	.	.	ENSG00000155744	ENST00000418596;ENST00000452799	T;T	0.75050	-0.9;-0.9	5.9	5.9	0.94986	.	0.056865	0.64402	D	0.000001	T	0.37293	0.0998	N	0.00119	-2.075	0.58432	D	0.999994	B	0.14012	0.009	B	0.12837	0.008	T	0.59794	-0.7387	10	0.02654	T	1	-13.2691	20.2787	0.98501	0.0:0.0:1.0:0.0	.	114	Q8IXS8	F126B_HUMAN	V	114	ENSP00000393667:A114V;ENSP00000401905:A114V	ENSP00000393667:A114V	A	-	2	0	FAM126B	201584433	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.168000	0.77570	2.798000	0.96311	0.650000	0.86243	GCT		0.303	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822		7	10	7	10
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			15	45	15	45
CCDC108	255101	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	219868765	219868765	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr2:219868765A>T	ENST00000341552.5	-	33	5547	c.5464T>A	c.(5464-5466)Tcc>Acc	p.S1822T	CCDC108_ENST00000453220.1_Missense_Mutation_p.S1822T|CCDC108_ENST00000441968.1_Missense_Mutation_p.S1822T|AC097468.4_ENST00000441450.1_RNA|MIR375_ENST00000362103.2_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1822	Glu-rich.					integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACTCCTGGGACTCAGGCTGT	0.577																																																0													254.0	239.0	244.0					2																	219868765		2203	4300	6503	SO:0001583	missense	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.5464T>A	2.37:g.219868765A>T	ENSP00000340776:p.Ser1822Thr		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	A	9.556	1.117275	0.20795	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.08102	3.13;3.13;3.13	4.42	3.17	0.36434	.	0.509560	0.14844	N	0.295110	T	0.10121	0.0248	M	0.62723	1.935	0.19575	N	0.999965	P	0.46512	0.879	B	0.42916	0.402	T	0.20207	-1.0282	10	0.49607	T	0.09	-20.4007	4.8545	0.13552	0.7059:0.19:0.1041:0.0	.	1822	Q6ZU64	CC108_HUMAN	T	1822	ENSP00000340776:S1822T;ENSP00000413377:S1822T;ENSP00000409117:S1822T	ENSP00000340776:S1822T	S	-	1	0	CCDC108	219577009	0.372000	0.25064	0.028000	0.17463	0.010000	0.07245	0.641000	0.24720	1.760000	0.52011	0.459000	0.35465	TCC		0.577	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		144	153	144	153
ITPR1	3708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	4699950	4699950	+	Missense_Mutation	SNP	G	G	A	rs6766212		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr3:4699950G>A	ENST00000443694.2	+	10	1094	c.1094G>A	c.(1093-1095)aGc>aAc	p.S365N	ITPR1_ENST00000357086.4_Missense_Mutation_p.S380N|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.S380N|ITPR1_ENST00000456211.2_Missense_Mutation_p.S365N|ITPR1_ENST00000423119.2_Missense_Mutation_p.S380N|ITPR1_ENST00000302640.8_Missense_Mutation_p.S365N			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	380	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GGAGGTGACAGCCTTGTCCCA	0.493																																																0													100.0	98.0	98.0					3																	4699950		1926	4137	6063	SO:0001583	missense	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.1094G>A	3.37:g.4699950G>A	ENSP00000401671:p.Ser365Asn		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359127	0.82353	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83;-2.83;-2.83	5.39	5.39	0.77823	MIR motif (2);MIR (2);	0.142496	0.64402	D	0.000005	D	0.90772	0.7103	L	0.52573	1.65	0.80722	D	1	B;B;B	0.32693	0.14;0.29;0.38	B;B;B	0.41946	0.371;0.371;0.255	D	0.88477	0.3066	10	0.32370	T	0.25	.	19.171	0.93578	0.0:0.0:1.0:0.0	.	365;380;380	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	N	380;365;380;380;380;365;365	ENSP00000306253:S365N;ENSP00000346595:S380N;ENSP00000405934:S380N;ENSP00000349597:S380N;ENSP00000397885:S365N;ENSP00000401671:S365N	ENSP00000306253:S365N	S	+	2	0	ITPR1	4674950	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.683000	0.68189	2.525000	0.85131	0.655000	0.94253	AGC		0.493	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		8	61	8	61
GOLGA4	2803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	37396655	37396655	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr3:37396655G>T	ENST00000361924.2	+	22	7014	c.6640G>T	c.(6640-6642)Gaa>Taa	p.E2214*	GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.E2229*|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2214	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.L2213_E2214>F*(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAAAATTTTGGAAAGAGAAGA	0.383																																																2	Complex - compound substitution(2)	lung(2)											132.0	132.0	132.0					3																	37396655		2203	4299	6502	SO:0001587	stop_gained	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.6640G>T	3.37:g.37396655G>T	ENSP00000354486:p.Glu2214*		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Nonsense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	48	14.881537	0.99814	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	.	.	.	5.82	5.82	0.92795	.	0.000000	0.37577	N	0.002035	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	15.5745	0.76365	0.0:0.1371:0.8629:0.0	.	.	.	.	X	2214;2229;2085	.	ENSP00000349305:E2229X	E	+	1	0	GOLGA4	37371659	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.914000	0.69964	2.756000	0.94617	0.563000	0.77884	GAA		0.383	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		28	55	28	55
DNASE1L3	1776	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	58190566	58190566	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr3:58190566G>C	ENST00000394549.2	-	4	679	c.363C>G	c.(361-363)gaC>gaG	p.D121E	DNASE1L3_ENST00000483681.1_Missense_Mutation_p.D121E|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.D121E|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.D91E	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	121					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		CATCCTGATAGTCATGGTAGT	0.493																																					Esophageal Squamous(96;1069 1424 4841 43466 52325)											0													131.0	117.0	121.0					3																	58190566		2203	4300	6503	SO:0001583	missense	1776			AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"""DNase gamma"""	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.363C>G	3.37:g.58190566G>C	ENSP00000378053:p.Asp121Glu		B2R8B1|B7Z707|O75803	Missense_Mutation	SNP	ENST00000394549.2	37	CCDS2886.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030744	0.35797	.	.	ENSG00000163687	ENST00000486455;ENST00000450710;ENST00000318316;ENST00000483681;ENST00000394549;ENST00000461914	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	5.4	3.57	0.40892	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.66867	0.2833	M	0.80982	2.52	0.40712	D	0.982585	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.70868	-0.4755	10	0.62326	D	0.03	.	10.9517	0.47334	0.1768:0.0:0.8232:0.0	.	91;121;121	B7Z707;E9PES0;Q13609	.;.;DNSL3_HUMAN	E	91;121;121;121;121;121	ENSP00000419052:D91E;ENSP00000316193:D121E;ENSP00000417047:D121E;ENSP00000378053:D121E;ENSP00000418113:D121E	ENSP00000316193:D121E	D	-	3	2	DNASE1L3	58165606	0.464000	0.25807	0.988000	0.46212	0.045000	0.14185	0.887000	0.28254	2.529000	0.85273	0.655000	0.94253	GAC		0.493	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353533.1	NM_004944		13	64	13	64
TP63	8626	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	189604292	189604292	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr3:189604292C>T	ENST00000264731.3	+	11	1548	c.1459C>T	c.(1459-1461)Cgc>Tgc	p.R487C	TP63_ENST00000392461.3_Missense_Mutation_p.R393C|TP63_ENST00000320472.5_Missense_Mutation_p.R487C|TP63_ENST00000440651.2_Missense_Mutation_p.R483C|TP63_ENST00000449992.1_Missense_Mutation_p.R308C|TP63_ENST00000456148.1_Missense_Mutation_p.R389C|TP63_ENST00000392460.3_Missense_Mutation_p.R487C|TP63_ENST00000382063.4_Missense_Mutation_p.R402C|TP63_ENST00000392463.2_Missense_Mutation_p.R393C|TP63_ENST00000354600.5_Missense_Mutation_p.R393C	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	487					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCCTCAGCAGCGCAACGCCCT	0.502										HNSCC(45;0.13)																																						0													137.0	111.0	120.0					3																	189604292		2203	4300	6503	SO:0001583	missense	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1459C>T	3.37:g.189604292C>T	ENSP00000264731:p.Arg487Cys		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138235	0.77775	.	.	ENSG00000073282	ENST00000264731;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D	0.99704	-6.14;-6.41;-6.39;-6.14;-6.45;-6.12;-6.36;-6.38;-6.46;-6.12	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.99357	0.9774	L	0.40543	1.245	0.80722	D	1	D;D;D;D;D;D	0.89917	0.996;1.0;0.999;0.996;1.0;0.997	P;D;D;P;D;P	0.69142	0.862;0.95;0.931;0.862;0.962;0.835	D	0.98147	1.0439	9	.	.	.	-6.9312	14.4918	0.67657	0.1466:0.8534:0.0:0.0	.	308;487;393;393;487;487	Q9H3D4-10;Q9H3D4-7;Q9H3D4-4;Q9H3D4-2;Q9H3D4-3;Q9H3D4	.;.;.;.;.;P63_HUMAN	C	487;487;487;483;402;393;393;393;308;389	ENSP00000264731:R487C;ENSP00000317510:R487C;ENSP00000376253:R487C;ENSP00000394337:R483C;ENSP00000371495:R402C;ENSP00000346614:R393C;ENSP00000376256:R393C;ENSP00000376254:R393C;ENSP00000387839:R308C;ENSP00000389485:R389C	.	R	+	1	0	TP63	191086986	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.424000	0.52764	2.894000	0.99253	0.591000	0.81541	CGC		0.502	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		27	63	27	63
TMPRSS11F	389208	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	68935722	68935722	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr4:68935722A>C	ENST00000356291.2	-	6	577	c.518T>G	c.(517-519)aTt>aGt	p.I173S	UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000499180.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	173	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TTTGCTGTCAATAGCTGGAAT	0.313																																																0													146.0	149.0	148.0					4																	68935722		2202	4298	6500	SO:0001583	missense	389208			AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.518T>G	4.37:g.68935722A>C	ENSP00000348639:p.Ile173Ser		A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.956566	0.73902	.	.	ENSG00000198092	ENST00000356291	T	0.34275	1.37	5.96	5.96	0.96718	SEA (2);	0.000000	0.56097	D	0.000026	T	0.52725	0.1752	M	0.72894	2.215	0.42482	D	0.99286	D	0.71674	0.998	P	0.59115	0.852	T	0.51826	-0.8656	10	0.31617	T	0.26	.	12.8299	0.57740	1.0:0.0:0.0:0.0	.	173	Q6ZWK6	TM11F_HUMAN	S	173	ENSP00000348639:I173S	ENSP00000348639:I173S	I	-	2	0	TMPRSS11F	68618317	0.989000	0.36119	0.995000	0.50966	0.851000	0.48451	3.262000	0.51538	2.280000	0.76307	0.533000	0.62120	ATT		0.313	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		34	93	34	93
MMAA	166785	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	146560298	146560298	+	Missense_Mutation	SNP	A	A	G	rs527340737		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr4:146560298A>G	ENST00000281317.5	+	2	1217	c.7A>G	c.(7-9)Atg>Gtg	p.M3V	MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	3					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAATATGCCCATGCTGCTACC	0.423																																																0													99.0	100.0	100.0					4																	146560298		2203	4300	6503	SO:0001583	missense	166785			AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"""methylmalonic aciduria (cobalamin deficiency) type A"""			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.7A>G	4.37:g.146560298A>G	ENSP00000281317:p.Met3Val		B3KX40|Q495G7	Missense_Mutation	SNP	ENST00000281317.5	37	CCDS3766.1	.	.	.	.	.	.	.	.	.	.	a	5.497	0.276735	0.10403	.	.	ENSG00000151611	ENST00000281317;ENST00000537246	D	0.90620	-2.7	5.42	-7.72	0.01250	.	1.059490	0.07278	N	0.870290	D	0.83552	0.5279	L	0.57536	1.79	0.09310	N	0.999992	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.65327	-0.6195	10	0.22706	T	0.39	-8.1666	5.2887	0.15716	0.1634:0.3015:0.4363:0.0988	.	3;3	Q8IVH4;D6RIS5	MMAA_HUMAN;.	V	3	ENSP00000281317:M3V	ENSP00000281317:M3V	M	+	1	0	MMAA	146779748	0.000000	0.05858	0.000000	0.03702	0.314000	0.28054	-0.428000	0.06991	-1.659000	0.01488	0.533000	0.62120	ATG		0.423	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2			71	110	71	110
CDH12	1010	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	21752319	21752319	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:21752319G>A	ENST00000382254.1	-	15	2998	c.1912C>T	c.(1912-1914)Cga>Tga	p.R638*	CDH12_ENST00000522262.1_Nonsense_Mutation_p.R598*|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Nonsense_Mutation_p.R638*	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	638					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTCTGCCTTCGCAGTGCTACA	0.398										HNSCC(59;0.17)																																						0													78.0	76.0	76.0					5																	21752319		2203	4300	6503	SO:0001587	stop_gained	1010			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1912C>T	5.37:g.21752319G>A	ENSP00000371689:p.Arg638*		B2RBT1|B7Z2U6|Q86UD2	Nonsense_Mutation	SNP	ENST00000382254.1	37	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	38	7.035683	0.98017	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	.	.	.	5.44	-3.69	0.04450	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	22.0773	0.99966	0.0:0.0:0.1604:0.8396	.	.	.	.	X	638;638;598	.	ENSP00000371689:R638X	R	-	1	2	CDH12	21788076	0.003000	0.15002	0.610000	0.28997	0.550000	0.35303	-0.179000	0.09768	-0.676000	0.05238	-0.467000	0.05162	CGA		0.398	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		39	11	39	11
FAT2	2196	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	150947117	150947117	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:150947117T>C	ENST00000261800.5	-	1	1388	c.1376A>G	c.(1375-1377)aAc>aGc	p.N459S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	459	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAAGACCTGTTGAAGAGGGG	0.537																																																0													116.0	117.0	116.0					5																	150947117		2203	4300	6503	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1376A>G	5.37:g.150947117T>C	ENSP00000261800:p.Asn459Ser		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	T	2.888	-0.230277	0.05983	.	.	ENSG00000086570	ENST00000261800	T	0.59502	0.26	5.72	0.867	0.19085	Cadherin (3);Cadherin-like (1);	0.616205	0.16271	N	0.221764	T	0.28333	0.0700	N	0.11313	0.125	0.18873	N	0.999984	B	0.02656	0.0	B	0.01281	0.0	T	0.24404	-1.0161	10	0.05721	T	0.95	.	6.8771	0.24153	0.0:0.3338:0.2922:0.374	.	459	Q9NYQ8	FAT2_HUMAN	S	459	ENSP00000261800:N459S	ENSP00000261800:N459S	N	-	2	0	FAT2	150927310	0.996000	0.38824	0.951000	0.38953	0.939000	0.58152	0.707000	0.25704	0.135000	0.18707	0.533000	0.62120	AAC		0.537	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		56	101	56	101
LRRC16A	55604	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	25517626	25517626	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr6:25517626A>G	ENST00000329474.6	+	22	2225	c.1857A>G	c.(1855-1857)atA>atG	p.I619M		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	619					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TTCAGGATATAGCTGTTGCTA	0.313																																																0													114.0	108.0	110.0					6																	25517626		1839	4090	5929	SO:0001583	missense	55604			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.1857A>G	6.37:g.25517626A>G	ENSP00000331983:p.Ile619Met		B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.667034	0.67814	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.58652	0.32	5.94	1.87	0.25490	.	0.043726	0.85682	D	0.000000	T	0.51822	0.1697	L	0.45352	1.415	0.80722	D	1	D;D;D	0.69078	0.992;0.992;0.997	P;P;D	0.65874	0.871;0.871;0.939	T	0.56135	-0.8029	10	0.87932	D	0	.	8.5911	0.33688	0.4891:0.3868:0.0:0.1241	.	619;619;619	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	M	619	ENSP00000331983:I619M	ENSP00000331983:I619M	I	+	3	3	LRRC16A	25625605	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.353000	0.44089	0.445000	0.26639	0.459000	0.35465	ATA		0.313	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		27	47	27	47
FAM188B	84182	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	30898919	30898919	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr7:30898919T>C	ENST00000265299.6	+	13	1801	c.1724T>C	c.(1723-1725)aTc>aCc	p.I575T	AQP1_ENST00000509504.1_Missense_Mutation_p.I38T|INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000434909.2_5'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	575										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTTCTGCCATCCTGTCCAGG	0.567																																																0													122.0	128.0	126.0					7																	30898919		2078	4224	6302	SO:0001583	missense	84182			AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1724T>C	7.37:g.30898919T>C	ENSP00000265299:p.Ile575Thr		Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.740039	0.69304	.	.	ENSG00000106125;ENSG00000106125;ENSG00000250424	ENST00000265299;ENST00000409881;ENST00000509504	T;T	0.40476	1.03;1.03	5.26	5.26	0.73747	.	0.312951	0.32671	N	0.005798	T	0.59128	0.2171	M	0.84683	2.71	0.80722	D	1	P;D	0.53745	0.918;0.962	P;P	0.53146	0.524;0.719	T	0.66941	-0.5796	10	0.87932	D	0	-23.6808	11.5476	0.50702	0.0:0.0:0.0:1.0	.	95;575	B8ZZX1;Q4G0A6	.;F188B_HUMAN	T	575;95;38	ENSP00000265299:I575T;ENSP00000421315:I38T	ENSP00000265299:I575T	I	+	2	0	RP5-877J2.1;FAM188B	30865444	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.383000	0.52471	1.989000	0.58080	0.459000	0.35465	ATC		0.567	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		17	70	17	70
TG	7038	hgsc.bcm.edu;ucsc.edu	37	8	134145830	134145830	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr8:134145830C>G	ENST00000220616.4	+	47	8154	c.8114C>G	c.(8113-8115)cCc>cGc	p.P2705R	TG_ENST00000542445.1_Missense_Mutation_p.P1075R|TG_ENST00000377869.1_Missense_Mutation_p.P2648R|TG_ENST00000519543.1_Missense_Mutation_p.P838R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2705					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGCTGCTCCCCAATCGACAG	0.537																																																0													103.0	95.0	97.0					8																	134145830		2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.8114C>G	8.37:g.134145830C>G	ENSP00000220616:p.Pro2705Arg		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735283	0.48939	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000535932;ENST00000542445;ENST00000519543;ENST00000521107	T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.77	4.84	4.84	0.62591	Carboxylesterase, type B (1);	0.186110	0.37304	N	0.002160	T	0.61540	0.2355	L	0.28556	0.865	0.31917	N	0.613891	D;D;D	0.62365	0.991;0.958;0.97	P;P;P	0.59221	0.854;0.692;0.78	T	0.67643	-0.5618	10	0.48119	T	0.1	.	15.7848	0.78294	0.0:1.0:0.0:0.0	.	838;1075;2705	E7EVM0;F5GWW5;P01266	.;.;THYG_HUMAN	R	2648;1511;2705;824;1075;838;109	ENSP00000367100:P2648R;ENSP00000220616:P2705R;ENSP00000441693:P1075R;ENSP00000430430:P838R;ENSP00000430161:P109R	ENSP00000220616:P2705R	P	+	2	0	TG	134215012	0.962000	0.33011	0.781000	0.31783	0.187000	0.23431	1.826000	0.39092	2.359000	0.80004	0.561000	0.74099	CCC		0.537	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		12	53	12	53
TG	7038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	134145854	134145854	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr8:134145854C>G	ENST00000220616.4	+	47	8178	c.8138C>G	c.(8137-8139)gCc>gGc	p.A2713G	TG_ENST00000542445.1_Missense_Mutation_p.A1083G|TG_ENST00000377869.1_Missense_Mutation_p.A2656G|TG_ENST00000519543.1_Missense_Mutation_p.A846G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2713					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTGAAGAAAGCCGACTGCTCC	0.547																																																0													86.0	78.0	81.0					8																	134145854		2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.8138C>G	8.37:g.134145854C>G	ENSP00000220616:p.Ala2713Gly		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.24|12.24	1.879334|1.879334	0.33162|0.33162	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000535932;ENST00000542445;ENST00000519543;ENST00000521107|ENST00000519178	T;T;T;T;T|.	0.67865|.	-0.29;-0.29;-0.29;-0.29;0.7|.	4.84|4.84	3.96|3.96	0.45880|0.45880	Carboxylesterase, type B (1);|.	0.262070|.	0.32473|.	N|.	0.006059|.	T|T	0.45856|0.45856	0.1363|0.1363	L|L	0.53249|0.53249	1.67|1.67	0.20307|0.20307	N|N	0.999912|0.999912	D;D;D|.	0.63880|.	0.993;0.981;0.993|.	D;P;D|.	0.63192|.	0.912;0.652;0.912|.	T|T	0.30592|0.30592	-0.9973|-0.9973	10|5	0.87932|.	D|.	0|.	.|.	11.101|11.101	0.48174|0.48174	0.0:0.908:0.0:0.092|0.0:0.908:0.0:0.092	.|.	846;1083;2713|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	G|R	2656;1519;2713;832;1083;846;117|1168	ENSP00000367100:A2656G;ENSP00000220616:A2713G;ENSP00000441693:A1083G;ENSP00000430430:A846G;ENSP00000430161:A117G|.	ENSP00000220616:A2713G|.	A|S	+|+	2|3	0|2	TG|TG	134215036|134215036	0.978000|0.978000	0.34361|0.34361	0.122000|0.122000	0.21767|0.21767	0.026000|0.026000	0.11368|0.11368	3.683000|3.683000	0.54663|0.54663	1.140000|1.140000	0.42260|0.42260	0.561000|0.561000	0.74099|0.74099	GCC|AGC		0.547	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		11	43	11	43
ST3GAL1	6482	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	134488257	134488257	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr8:134488257A>G	ENST00000319914.5	-	4	1038	c.11T>C	c.(10-12)cTg>cCg	p.L4P	ST3GAL1_ENST00000399640.2_Missense_Mutation_p.L4P|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.L4P|ST3GAL1_ENST00000519435.1_5'Flank|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.L4P			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	4					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CCTCTTCCGCAGGGTCACCAT	0.552																																																0													73.0	76.0	75.0					8																	134488257		2203	4300	6503	SO:0001583	missense	6482			L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"""Sialyltransferases"""	10862	protein-coding gene	gene with protein product	"""ST3Gal I"""	607187	"""sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.11T>C	8.37:g.134488257A>G	ENSP00000318445:p.Leu4Pro		O60677|Q9UN51	Missense_Mutation	SNP	ENST00000319914.5	37	CCDS6373.1	.	.	.	.	.	.	.	.	.	.	A	11.19	1.564611	0.27915	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652;ENST00000523634;ENST00000519924;ENST00000523855	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	5.55	-1.1	0.09872	.	1.570580	0.03050	N	0.154487	T	0.10852	0.0265	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23691	-1.0181	10	0.36615	T	0.2	-4.3206	4.7748	0.13173	0.5944:0.0:0.2745:0.1311	.	4	Q11201	SIA4A_HUMAN	P	4	ENSP00000318445:L4P;ENSP00000414073:L4P;ENSP00000428540:L4P;ENSP00000430515:L4P	ENSP00000318445:L4P	L	-	2	0	ST3GAL1	134557439	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	0.462000	0.21956	-0.419000	0.07439	0.459000	0.35465	CTG		0.552	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		35	76	35	76
TTF1	7270	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	135275446	135275446	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr9:135275446G>A	ENST00000334270.2	-	3	1606	c.1567C>T	c.(1567-1569)Cgg>Tgg	p.R523W		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	523					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TCCTTAAACCGTTCCAAGTCG	0.468																																																0													170.0	158.0	162.0					9																	135275446		2203	4300	6503	SO:0001583	missense	7270			BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1567C>T	9.37:g.135275446G>A	ENSP00000333920:p.Arg523Trp		A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.593613	0.28445	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.23348	1.91	5.14	3.3	0.37823	.	0.087366	0.46145	D	0.000309	T	0.42040	0.1185	M	0.63843	1.955	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.16217	-1.0410	10	0.54805	T	0.06	.	6.6144	0.22769	0.0912:0.0:0.7314:0.1774	.	523	Q15361	TTF1_HUMAN	W	523	ENSP00000333920:R523W	ENSP00000245588:R523W	R	-	1	2	TTF1	134265267	0.967000	0.33354	0.003000	0.11579	0.044000	0.14063	2.988000	0.49386	0.584000	0.29591	-0.217000	0.12591	CGG		0.468	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		26	123	26	123
CUL4B	8450	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	119694140	119694140	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chrX:119694140C>G	ENST00000404115.3	-	3	809	c.408G>C	c.(406-408)gaG>gaC	p.E136D	CUL4B_ENST00000336592.6_Missense_Mutation_p.E123D|CUL4B_ENST00000371322.5_Missense_Mutation_p.E118D	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	136	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						aggaggaTTCCTCAGCCATCT	0.488																																																0													69.0	62.0	65.0					X																	119694140		2203	4300	6503	SO:0001583	missense	8450			U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.408G>C	X.37:g.119694140C>G	ENSP00000384109:p.Glu136Asp		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.944632	0.34283	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.70282	-0.46;-0.46;-0.47	5.66	3.89	0.44902	.	0.047359	0.85682	D	0.000000	T	0.67618	0.2912	N	0.14661	0.345	0.49582	D	0.999809	P;D	0.56035	0.956;0.974	D;D	0.70487	0.931;0.969	T	0.64676	-0.6351	9	.	.	.	-13.3655	9.1474	0.36942	0.0:0.747:0.0:0.253	.	136;118	Q13620;Q13620-1	CUL4B_HUMAN;.	D	118;123;136	ENSP00000360373:E118D;ENSP00000338919:E123D;ENSP00000384109:E136D	.	E	-	3	2	CUL4B	119578168	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.586000	0.60984	1.164000	0.42652	0.523000	0.50628	GAG		0.488	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		10	35	10	35
MRPS27	23107	broad.mit.edu;ucsc.edu	37	5	71593520	71593520	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:71593520G>C	ENST00000261413.5	-	3	200	c.161C>G	c.(160-162)gCa>gGa	p.A54G	MRPS27_ENST00000522095.1_Missense_Mutation_p.A54G|MRPS27_ENST00000513900.1_Missense_Mutation_p.A54G|MRPS27_ENST00000515404.1_5'UTR|MRPS27_ENST00000457646.4_5'UTR	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	54						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		CATTAAAGATGCAAGATCAGC	0.294																																																0													28.0	29.0	29.0					5																	71593520		2200	4288	6488	SO:0001583	missense	23107			D87453	CCDS4013.1, CCDS68890.1, CCDS75257.1	5q13.2	2012-09-13			ENSG00000113048	ENSG00000113048		"""Mitochondrial ribosomal proteins / small subunits"""	14512	protein-coding gene	gene with protein product		611989					Standard	NM_015084		Approved	KIAA0264	uc003kbz.4	Q92552	OTTHUMG00000100951	ENST00000261413.5:c.161C>G	5.37:g.71593520G>C	ENSP00000261413:p.Ala54Gly		B4DRT2|Q6P1S1	Missense_Mutation	SNP	ENST00000261413.5	37	CCDS4013.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711227	0.68730	.	.	ENSG00000113048	ENST00000261413;ENST00000513900;ENST00000522095	T;T;T	0.56941	0.43;0.43;0.43	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.70090	0.3184	M	0.69823	2.125	0.51012	D	0.999908	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.997	T	0.67256	-0.5716	10	0.31617	T	0.26	-10.2206	15.404	0.74863	0.0:0.0:1.0:0.0	.	54;54	B4DRT2;Q92552	.;RT27_HUMAN	G	54	ENSP00000261413:A54G;ENSP00000426941:A54G;ENSP00000430590:A54G	ENSP00000261413:A54G	A	-	2	0	MRPS27	71629276	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.745000	0.74860	2.609000	0.88269	0.563000	0.77884	GCA		0.294	MRPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218560.2	NM_015084		5	14	5	14
ZAN	7455	broad.mit.edu;ucsc.edu	37	7	100363082	100363082	+	RNA	SNP	G	G	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr7:100363082G>T	ENST00000348028.3	+	0	4540				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GTGCGTGGAGGCCTGTGAATG	0.612																																																0													52.0	55.0	54.0					7																	100363082		2123	4250	6373			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100363082G>T			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	G	32	5.191417	0.94923	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	3.99	3.99	0.46301	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.593650	0.14038	N	0.345606	T	0.65974	0.2743	N	0.12527	0.23	0.27069	N	0.963377	P;P	0.38827	0.597;0.649	B;B	0.42163	0.26;0.378	T	0.62840	-0.6769	10	0.59425	D	0.04	.	12.2723	0.54712	0.0:0.0:1.0:0.0	.	1459;1459	F5H0T8;Q9Y493	.;ZAN_HUMAN	S	1459;1459;1459;36	ENSP00000445943:A1459S;ENSP00000445091:A1459S;ENSP00000444427:A1459S;ENSP00000441117:A36S	ENSP00000423579:A1459S	A	+	1	0	ZAN	100201018	1.000000	0.71417	0.991000	0.47740	0.602000	0.36980	5.830000	0.69324	2.183000	0.69458	0.462000	0.41574	GCC		0.612	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		13	37	13	37
GBA2	57704	broad.mit.edu;ucsc.edu	37	9	35741041	35741041	+	Silent	SNP	T	T	C			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr9:35741041T>C	ENST00000378103.3	-	5	1330	c.807A>G	c.(805-807)ggA>ggG	p.G269G	GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378094.4_Silent_p.G269G|GBA2_ENST00000378088.1_5'Flank|GBA2_ENST00000545786.1_Silent_p.G275G	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	269					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACACAAAGACTCCTACAGGCA	0.567																																																0													75.0	59.0	65.0					9																	35741041		2203	4300	6503	SO:0001819	synonymous_variant	57704			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.807A>G	9.37:g.35741041T>C			D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Silent	SNP	ENST00000378103.3	37	CCDS6589.1																																																																																				0.567	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		20	68	20	68
TMEM132B	114795	broad.mit.edu;ucsc.edu	37	12	126135302	126135302	+	Missense_Mutation	SNP	G	G	A	rs550549644		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr12:126135302G>A	ENST00000299308.3	+	7	1710	c.1702G>A	c.(1702-1704)Gcc>Acc	p.A568T	TMEM132B_ENST00000535886.1_Missense_Mutation_p.A80T	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	568						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTACCAGCACGCCACAGTGCG	0.587																																																0													75.0	85.0	81.0					12																	126135302		2184	4293	6477	SO:0001583	missense	114795			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1702G>A	12.37:g.126135302G>A	ENSP00000299308:p.Ala568Thr		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219767	0.58560	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.19394	2.15;2.15	5.15	4.25	0.50352	.	0.000000	0.64402	D	0.000007	T	0.17577	0.0422	L	0.59436	1.845	0.80722	D	1	P	0.40515	0.719	B	0.23018	0.043	T	0.03957	-1.0989	10	0.41790	T	0.15	.	13.8152	0.63287	0.0744:0.0:0.9256:0.0	.	568	Q14DG7	T132B_HUMAN	T	568;80	ENSP00000299308:A568T;ENSP00000440436:A80T	ENSP00000299308:A568T	A	+	1	0	TMEM132B	124701255	1.000000	0.71417	0.043000	0.18650	0.693000	0.40251	9.545000	0.98095	1.137000	0.42214	0.655000	0.94253	GCC		0.587	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		8	67	8	67
MACROD1	28992	broad.mit.edu;ucsc.edu	37	11	63884997	63884997	+	Intron	SNP	C	C	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr11:63884997C>T	ENST00000255681.6	-	3	584				FLRT1_ENST00000246841.3_Missense_Mutation_p.R420C|RP11-21A7A.3_ENST00000543817.1_RNA	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						GCCAGGGCTGCGCCTCCCCGA	0.652																																																0													45.0	43.0	44.0					11																	63884997		2201	4297	6498	SO:0001627	intron_variant	23769			AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+33713G>A	11.37:g.63884997C>T			Q9UH96	Missense_Mutation	SNP	ENST00000255681.6	37	CCDS8056.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033296	0.35893	.	.	ENSG00000126500	ENST00000246841	T	0.52295	0.67	5.4	5.4	0.78164	.	0.389408	0.25842	N	0.027955	T	0.41213	0.1149	L	0.29908	0.895	0.46725	D	0.999175	D	0.56521	0.976	B	0.42653	0.394	T	0.44190	-0.9344	10	0.62326	D	0.03	-22.6107	17.9416	0.89027	0.0:1.0:0.0:0.0	.	392	Q9NZU1	FLRT1_HUMAN	C	420	ENSP00000246841:R420C	ENSP00000246841:R420C	R	+	1	0	FLRT1	63641573	0.982000	0.34865	0.996000	0.52242	0.119000	0.20118	1.184000	0.32053	2.512000	0.84698	0.650000	0.86243	CGC		0.652	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		5	26	5	26
STK32A	202374	broad.mit.edu;ucsc.edu	37	5	146657719	146657719	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:146657719A>G	ENST00000397936.3	+	3	418	c.85A>G	c.(85-87)Att>Gtt	p.I29V	STK32A_ENST00000541094.1_Missense_Mutation_p.I29V|STK32A_ENST00000398523.3_Missense_Mutation_p.I29V|STK32A_ENST00000398521.3_Missense_Mutation_p.I29V	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	29	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGCGAGCCATTGGGAAAGG	0.358																																																0													56.0	52.0	53.0					5																	146657719		1830	4086	5916	SO:0001583	missense	202374				CCDS47299.1, CCDS75351.1	5q32	2008-02-05			ENSG00000169302	ENSG00000169302			28317	protein-coding gene	gene with protein product						12477932	Standard	NM_001112724		Approved	MGC22688, YANK1	uc010jgn.1	Q8WU08	OTTHUMG00000163411	ENST00000397936.3:c.85A>G	5.37:g.146657719A>G	ENSP00000381030:p.Ile29Val		B3KSY0	Missense_Mutation	SNP	ENST00000397936.3	37	CCDS47299.1	.	.	.	.	.	.	.	.	.	.	A	18.74	3.688985	0.68271	.	.	ENSG00000169302	ENST00000397936;ENST00000541094;ENST00000398521;ENST00000398523	T;T;T;T	0.32272	1.46;2.78;2.78;1.46	5.53	5.53	0.82687	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45361	D	0.000362	T	0.48786	0.1519	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.76494	0.999;0.993;0.998;0.985	D;D;D;P	0.76071	0.979;0.987;0.964;0.814	T	0.33828	-0.9853	10	0.18276	T	0.48	.	15.653	0.77112	1.0:0.0:0.0:0.0	.	29;29;29;29	B7Z9H7;Q8WU08;Q8WU08-3;Q8WU08-2	.;ST32A_HUMAN;.;.	V	29	ENSP00000381030:I29V;ENSP00000443156:I29V;ENSP00000381533:I29V;ENSP00000381535:I29V	ENSP00000381030:I29V	I	+	1	0	STK32A	146637912	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.640000	0.91028	2.105000	0.64084	0.528000	0.53228	ATT		0.358	STK32A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373306.1	NM_145001		5	12	5	12
ELP2	55250	broad.mit.edu;ucsc.edu	37	18	33738840	33738840	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr18:33738840G>T	ENST00000358232.6	+	14	1570	c.1507G>T	c.(1507-1509)Gga>Tga	p.G503*	ELP2_ENST00000351393.6_Nonsense_Mutation_p.G477*|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000542824.1_Nonsense_Mutation_p.G433*|ELP2_ENST00000350494.6_Nonsense_Mutation_p.G498*|ELP2_ENST00000442325.2_Nonsense_Mutation_p.G568*|ELP2_ENST00000423854.2_Nonsense_Mutation_p.G433*	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	503					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						CCCTGCATTGGGATTATCAAA	0.333																																																0													70.0	69.0	70.0					18																	33738840		2203	4300	6503	SO:0001587	stop_gained	55250			AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.1507G>T	18.37:g.33738840G>T	ENSP00000350967:p.Gly503*		A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Nonsense_Mutation	SNP	ENST00000358232.6	37	CCDS11918.1	.	.	.	.	.	.	.	.	.	.	G	39	7.620694	0.98393	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.3846	17.2619	0.87072	0.0:0.0:1.0:0.0	.	.	.	.	X	503;477;568;433;498;433	.	ENSP00000316051:G498X	G	+	1	0	ELP2	31992838	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	8.993000	0.93524	2.761000	0.94854	0.585000	0.79938	GGA		0.333	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255		26	21	26	21
GSPT1	2935	broad.mit.edu;hgsc.bcm.edu	37	16	11981588	11981589	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr16:11981588_11981589insT	ENST00000563468.1	-	5	407_408	c.381_382insA	c.(379-384)ttagacfs	p.D128fs	GSPT1_ENST00000439887.2_Frame_Shift_Ins_p.D265fs|GSPT1_ENST00000420576.2_Frame_Shift_Ins_p.D128fs|RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000434724.2_Frame_Shift_Ins_p.D266fs|GSPT1_ENST00000564790.1_5'Flank			P15170	ERF3A_HUMAN	G1 to S phase transition 1	128	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						TGATTTGTGTCTAAGGCCCAAG	0.356																																																0																																										SO:0001589	frameshift_variant	2935			BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000563468.1:c.382dupA	16.37:g.11981589_11981589dupT	ENSP00000454351:p.Asp128fs		J3KQG6|Q96GF2	Frame_Shift_Ins	INS	ENST00000563468.1	37	CCDS45414.1																																																																																				0.356	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421513.1	NM_002094		33	100	33	100
