#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
NAV2	89797	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	19970369	19970369	+	Silent	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr11:19970369C>T	ENST00000396087.3	+	11	2556	c.2457C>T	c.(2455-2457)gaC>gaT	p.D819D	NAV2_ENST00000396085.1_Silent_p.D796D|NAV2_ENST00000349880.4_Silent_p.D796D|NAV2_ENST00000360655.4_Silent_p.D732D|NAV2_ENST00000527559.2_Silent_p.D748D|NAV2_ENST00000540292.1_Silent_p.D750D	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	819					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.D819D(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AAGCAGGAGACGCCCCCTCAA	0.617																																																1	Substitution - coding silent(1)	lung(1)											64.0	56.0	59.0					11																	19970369		2199	4293	6492	SO:0001819	synonymous_variant	89797			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2457C>T	11.37:g.19970369C>T			A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	CCDS58126.1																																																																																				0.617	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		11	78	11	78
ADAMTS15	170689	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	130332501	130332501	+	Silent	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr11:130332501C>T	ENST00000299164.2	+	4	1368	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	456	Disintegrin.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GCGTGGGCTCCAAGCCCTGTC	0.647																																																0													76.0	66.0	69.0					11																	130332501		2201	4296	6497	SO:0001819	synonymous_variant	170689			AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.1368C>T	11.37:g.130332501C>T			Q32MI6	Silent	SNP	ENST00000299164.2	37	CCDS8488.1																																																																																				0.647	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		17	129	17	129
PRB3	5544	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	11420209	11420209	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr12:11420209G>A	ENST00000381842.3	-	5	884	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S	PRB3_ENST00000538488.1_Missense_Mutation_p.P283S|PRB3_ENST00000440870.3_5'UTR|PRB3_ENST00000279573.7_3'UTR	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	283	Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTTCCAGCGGGAGGTGGCAGA	0.622																																																0													99.0	115.0	110.0					12																	11420209		2200	4300	6500	SO:0001583	missense	5544					12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000381842.3:c.847C>T	12.37:g.11420209G>A	ENSP00000371264:p.Pro283Ser		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000381842.3	37		.	.	.	.	.	.	.	.	.	.	.	1.560	-0.536924	0.04082	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.33216	1.42;1.42	1.14	1.14	0.20703	.	2.103270	0.03947	U	0.287895	T	0.27169	0.0666	.	.	.	0.09310	N	1	D	0.55172	0.97	P	0.46275	0.51	T	0.23583	-1.0184	9	0.27082	T	0.32	.	5.7166	0.17964	0.0:0.0:1.0:0.0	.	283	Q04118	PRB3_HUMAN	S	283	ENSP00000371264:P283S;ENSP00000442626:P283S	ENSP00000371264:P283S	P	-	1	0	PRB3	11311476	0.998000	0.40836	0.002000	0.10522	0.004000	0.04260	0.923000	0.28757	0.948000	0.37687	0.456000	0.33151	CCC		0.622	PRB3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006249		36	220	36	220
MGAT4C	25834	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	86374059	86374059	+	Missense_Mutation	SNP	G	G	A	rs566418071		TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr12:86374059G>A	ENST00000604798.1	-	8	1649	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	MGAT4C_ENST00000552808.2_Missense_Mutation_p.R149C|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R149C|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R149C|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R178C|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R149C			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	149					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATGGCATCACGCCAGGAAGAA	0.398													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16782	0.0		0.0	False		,,,				2504	0.0															0													81.0	80.0	80.0					12																	86374059		2203	4300	6503	SO:0001583	missense	25834				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.445C>T	12.37:g.86374059G>A	ENSP00000474896:p.Arg149Cys		B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	G	8.835	0.940816	0.18281	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	5.58	4.59	0.56863	.	0.169518	0.52532	D	0.000061	T	0.62208	0.2409	N	0.02916	-0.46	0.58432	D	0.999999	B;B	0.14012	0.009;0.005	B;B	0.08055	0.003;0.003	T	0.59225	-0.7494	10	0.34782	T	0.22	-17.5819	3.6286	0.08123	0.3462:0.0:0.6538:0.0	.	178;149	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	C	149;178;149;149;149;149;149	ENSP00000331664:R149C;ENSP00000376900:R178C;ENSP00000449022:R149C;ENSP00000446647:R149C;ENSP00000447253:R149C;ENSP00000449172:R149C	ENSP00000331664:R149C	R	-	1	0	MGAT4C	84898190	1.000000	0.71417	1.000000	0.80357	0.022000	0.10575	7.687000	0.84139	2.612000	0.88384	0.655000	0.94253	CGT		0.398	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		12	78	12	78
SLC13A2	9058	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	26817446	26817446	+	Intron	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr17:26817446C>T	ENST00000314669.5	+	3	651				SLC13A2_ENST00000537681.1_Intron|SLC13A2_ENST00000545060.1_Intron|SLC13A2_ENST00000444914.3_Missense_Mutation_p.P118L	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2						dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GTCTTCCCGCCGCTCAGCCAT	0.612																																																0													103.0	106.0	105.0					17																	26817446		2203	4300	6503	SO:0001627	intron_variant	9058			U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.232-26C>T	17.37:g.26817446C>T			B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	ENST00000314669.5	37	CCDS11231.1	.	.	.	.	.	.	.	.	.	.	C	0.155	-1.087478	0.01873	.	.	ENSG00000007216	ENST00000444914	T	0.65178	-0.14	4.54	1.03	0.20045	.	.	.	.	.	T	0.26666	0.0652	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.29941	-0.9995	9	0.02654	T	1	.	4.8283	0.13427	0.1884:0.568:0.0:0.2437	.	118	E7ETH5	.	L	118	ENSP00000392411:P118L	ENSP00000392411:P118L	P	+	2	0	SLC13A2	23841573	0.001000	0.12720	0.010000	0.14722	0.002000	0.02628	0.021000	0.13489	0.327000	0.23409	-0.143000	0.13931	CCG		0.612	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984		40	264	40	264
LRRC37B	114659	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	30349672	30349672	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr17:30349672G>A	ENST00000341671.7	+	1	1512	c.1507G>A	c.(1507-1509)Gtg>Atg	p.V503M	LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000327564.7_Missense_Mutation_p.V530M|LRRC37B_ENST00000584368.1_Missense_Mutation_p.V515M|LRRC37B_ENST00000394713.3_Missense_Mutation_p.V503M|LRRC37B_ENST00000543378.2_Missense_Mutation_p.V421M	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	503						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GGATTCATTGGTGCAGTCTGA	0.507																																																0													61.0	61.0	61.0					17																	30349672		2200	4296	6496	SO:0001583	missense	114659			AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.1507G>A	17.37:g.30349672G>A	ENSP00000340519:p.Val503Met		Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	8.797	0.932033	0.18131	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.68025	-0.25;-0.3;0.81;-0.28	1.73	-3.46	0.04767	.	.	.	.	.	T	0.67924	0.2945	M	0.69823	2.125	0.09310	N	1	D;P	0.61080	0.989;0.712	P;B	0.56700	0.804;0.086	T	0.59440	-0.7454	9	0.51188	T	0.08	.	1.1157	0.01714	0.2111:0.3347:0.2871:0.1671	.	503;503	Q17RC9;Q96QE4	.;LR37B_HUMAN	M	421;530;503;503	ENSP00000443345:V421M;ENSP00000332536:V530M;ENSP00000378202:V503M;ENSP00000340519:V503M	ENSP00000332536:V530M	V	+	1	0	LRRC37B	27373785	0.002000	0.14202	0.000000	0.03702	0.103000	0.19146	-0.184000	0.09698	-2.680000	0.00409	0.186000	0.17326	GTG		0.507	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		23	115	23	115
ZNF521	25925	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	22805969	22805969	+	Missense_Mutation	SNP	T	T	G			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr18:22805969T>G	ENST00000361524.3	-	4	2061	c.1913A>C	c.(1912-1914)cAa>cCa	p.Q638P	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.Q638P|ZNF521_ENST00000584787.1_Missense_Mutation_p.Q418P	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	638					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGCACCACATTGATTACAGAT	0.478			T	PAX5	ALL																																		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													150.0	138.0	142.0					18																	22805969		2203	4300	6503	SO:0001583	missense	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1913A>C	18.37:g.22805969T>G	ENSP00000354794:p.Gln638Pro		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	T	7.203	0.593822	0.13875	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.76839	-1.05;-1.05	5.86	4.68	0.58851	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.058358	0.64402	D	0.000001	D	0.88347	0.6412	M	0.84511	2.7	0.51482	D	0.999929	D	0.76494	0.999	D	0.83275	0.996	D	0.89373	0.3676	10	0.72032	D	0.01	-30.1044	12.5625	0.56291	0.1248:0.0:0.0:0.8752	.	638	Q96K83	ZN521_HUMAN	P	638;672;638	ENSP00000354794:Q638P;ENSP00000382352:Q638P	ENSP00000354794:Q638P	Q	-	2	0	ZNF521	21059967	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.655000	0.83696	1.116000	0.41820	0.528000	0.53228	CAA		0.478	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		23	147	23	147
ZNF426	79088	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	9646905	9646905	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr19:9646905C>T	ENST00000535489.1	-	1	340	c.4G>A	c.(4-6)Gca>Aca	p.A2T	ZNF426_ENST00000253115.2_Missense_Mutation_p.A2T|ZNF426_ENST00000589289.1_Missense_Mutation_p.A2T|ZNF426_ENST00000593003.1_5'UTR			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	2					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TCAGCAGCTGCCATCCCGCGA	0.463																																																0													145.0	115.0	125.0					19																	9646905		2203	4300	6503	SO:0001583	missense	79088			AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"""Zinc fingers, C2H2-type"", ""-"""	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.4G>A	19.37:g.9646905C>T	ENSP00000439017:p.Ala2Thr		B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	37	CCDS12215.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.903|9.903	1.207284|1.207284	0.22205|0.22205	.|.	.|.	ENSG00000130818|ENSG00000130818	ENST00000253115;ENST00000535489|ENST00000545189	T;T|.	0.06294|.	3.32;3.32|.	1.14|1.14	1.14|1.14	0.20703|0.20703	.|.	.|.	.|.	.|.	.|.	T|.	0.28400|.	0.0702|.	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	D|.	0.57571|.	0.98|.	P|.	0.57009|.	0.811|.	T|.	0.27706|.	-1.0066|.	9|.	0.72032|0.72032	D|D	0.01|0.01	.|.	5.6327|5.6327	0.17520|0.17520	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2|.	Q9BUY5|.	ZN426_HUMAN|.	T|X	2|19	ENSP00000253115:A2T;ENSP00000439017:A2T|.	ENSP00000253115:A2T|ENSP00000442711:W19X	A|W	-|-	1|3	0|0	ZNF426|ZNF426	9507905|9507905	0.001000|0.001000	0.12720|0.12720	0.013000|0.013000	0.15412|0.15412	0.122000|0.122000	0.20287|0.20287	-0.377000|-0.377000	0.07456|0.07456	0.931000|0.931000	0.37242|0.37242	0.313000|0.313000	0.20887|0.20887	GCA|TGG		0.463	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		11	74	11	74
EHD2	30846	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	48229108	48229108	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr19:48229108G>A	ENST00000263277.3	+	4	793	c.542G>A	c.(541-543)cGc>cAc	p.R181H	EHD2_ENST00000538399.1_Missense_Mutation_p.R45H|CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	181	Dynamin-type G.				blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TTCGCGGAGCGCGTGGACCTC	0.637																																																0													43.0	39.0	40.0					19																	48229108		2203	4300	6503	SO:0001583	missense	30846			AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.542G>A	19.37:g.48229108G>A	ENSP00000263277:p.Arg181His		B2RDH9|B4DNU6|Q96CB6	Missense_Mutation	SNP	ENST00000263277.3	37	CCDS12704.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055691	0.75960	.	.	ENSG00000024422	ENST00000263277;ENST00000539439;ENST00000540364;ENST00000538399	D;D	0.96885	-4.16;-4.16	3.52	3.52	0.40303	Dynamin, GTPase domain (1);	0.065723	0.56097	D	0.000021	D	0.95313	0.8479	L	0.60455	1.87	0.80722	D	1	P	0.50710	0.938	P	0.47376	0.545	D	0.94971	0.8117	10	0.54805	T	0.06	-20.79	12.9714	0.58515	0.0:0.0:1.0:0.0	.	181	Q9NZN4	EHD2_HUMAN	H	181;181;171;45	ENSP00000263277:R181H;ENSP00000439036:R45H	ENSP00000263277:R181H	R	+	2	0	EHD2	52920920	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.668000	0.98619	1.702000	0.51228	0.456000	0.33151	CGC		0.637	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1			10	52	10	52
KIAA0754	643314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	39876726	39876726	+	Silent	SNP	A	A	G			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr1:39876726A>G	ENST00000530275.1	+	1	576	c.381A>G	c.(379-381)acA>acG	p.T127T	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	127										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CGAGGGCCACAAAAAGTTTAG	0.512											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													32.0	33.0	33.0					1																	39876726		1951	4146	6097	SO:0001819	synonymous_variant	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.381A>G	1.37:g.39876726A>G		889	E9PMC2|Q6ZSB2	Silent	SNP	ENST00000530275.1	37																																																																																					0.512	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		10	29	10	29
CEP250	11190	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	34059913	34059913	+	Silent	SNP	T	T	C			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr20:34059913T>C	ENST00000397527.1	+	11	1707	c.987T>C	c.(985-987)tcT>tcC	p.S329S	CEP250_ENST00000342580.4_Silent_p.S329S	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	329					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			ATGAAGCATCTCTTAGTAGGA	0.423																																																0													166.0	157.0	160.0					20																	34059913		2203	4300	6503	SO:0001819	synonymous_variant	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.987T>C	20.37:g.34059913T>C			E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	ENST00000397527.1	37	CCDS13255.1																																																																																				0.423	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		33	186	33	186
YTHDF1	54915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	61833842	61833842	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr20:61833842C>T	ENST00000370339.3	-	4	1791	c.1450G>A	c.(1450-1452)Gta>Ata	p.V484I	YTHDF1_ENST00000370333.4_Missense_Mutation_p.V434I|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	484	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.						N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTATTGGGTACATCCTTAACA	0.537																																																0													128.0	113.0	118.0					20																	61833842		2203	4300	6503	SO:0001583	missense	54915			AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1450G>A	20.37:g.61833842C>T	ENSP00000359364:p.Val484Ile		Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Missense_Mutation	SNP	ENST00000370339.3	37	CCDS13511.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197463	0.79015	.	.	ENSG00000149658	ENST00000370339;ENST00000370333	T;T	0.35236	1.32;1.32	4.87	4.87	0.63330	YTH domain (2);	0.000000	0.85682	D	0.000000	T	0.50531	0.1621	L	0.42008	1.315	0.80722	D	1	P	0.51351	0.944	P	0.61874	0.895	T	0.41016	-0.9532	10	0.33940	T	0.23	-25.3842	18.0227	0.89259	0.0:1.0:0.0:0.0	.	484	Q9BYJ9	YTHD1_HUMAN	I	484;434	ENSP00000359364:V484I;ENSP00000359358:V434I	ENSP00000359358:V434I	V	-	1	0	YTHDF1	61304287	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.708000	0.84633	2.258000	0.74832	0.591000	0.81541	GTA		0.537	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		15	82	15	82
VAMP5	10791	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	85818866	85818866	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr2:85818866C>T	ENST00000306384.4	+	2	105	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	8	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				cell differentiation (GO:0030154)|Golgi to plasma membrane protein transport (GO:0043001)|muscle organ development (GO:0007517)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.R8W(1)		NS(1)|large_intestine(3)|lung(1)	5						AGAGTTGGAGCGGTGCCAGCA	0.602																																																1	Substitution - Missense(1)	large_intestine(1)											99.0	86.0	90.0					2																	85818866		2203	4300	6503	SO:0001583	missense	10791			AF054825	CCDS1980.1	2p11.2	2013-02-13	2012-10-17		ENSG00000168899	ENSG00000168899		"""Vesicle-associated membrane proteins"""	12646	protein-coding gene	gene with protein product	"""myobrevin"""	607029				9725904	Standard	NM_006634		Approved		uc002spu.1	O95183	OTTHUMG00000130169	ENST00000306384.4:c.22C>T	2.37:g.85818866C>T	ENSP00000305647:p.Arg8Trp		Q9P0T2	Missense_Mutation	SNP	ENST00000306384.4	37	CCDS1980.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966516	0.74131	.	.	ENSG00000168899	ENST00000306384	T	0.46451	0.87	4.84	3.86	0.44501	Synaptobrevin (2);	0.510677	0.16936	N	0.193481	T	0.58163	0.2103	M	0.78456	2.415	0.26041	N	0.981608	D	0.76494	0.999	P	0.57846	0.828	T	0.52895	-0.8514	10	0.87932	D	0	.	11.017	0.47696	0.199:0.801:0.0:0.0	.	8	O95183	VAMP5_HUMAN	W	8	ENSP00000305647:R8W	ENSP00000305647:R8W	R	+	1	2	VAMP5	85672377	0.838000	0.29461	0.993000	0.49108	0.993000	0.82548	1.643000	0.37217	2.240000	0.73641	0.561000	0.74099	CGG		0.602	VAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252484.2	NM_006634		20	102	20	102
AMER3	205147	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	131521800	131521800	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr2:131521800C>T	ENST00000423981.1	+	2	2265	c.2155C>T	c.(2155-2157)Cag>Tag	p.Q719*	AMER3_ENST00000321420.4_Nonsense_Mutation_p.Q719*	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	719					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										CATGCTGGAGCAGAAACAGTC	0.632																																																0													46.0	43.0	44.0					2																	131521800		2203	4300	6503	SO:0001587	stop_gained	205147			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.2155C>T	2.37:g.131521800C>T	ENSP00000392700:p.Gln719*		B7ZLH6	Nonsense_Mutation	SNP	ENST00000423981.1	37	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	36	5.908540	0.97093	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	.	.	.	4.21	1.21	0.21127	.	0.367899	0.19709	N	0.107845	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	10.2747	0.43504	0.5384:0.4616:0.0:0.0	.	.	.	.	X	719	.	ENSP00000314914:Q719X	Q	+	1	0	FAM123C	131238270	0.010000	0.17322	0.010000	0.14722	0.018000	0.09664	0.510000	0.22723	0.107000	0.17824	-0.358000	0.07595	CAG		0.632	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		12	45	12	45
FN1	2335	hgsc.bcm.edu;ucsc.edu	37	2	216288193	216288193	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr2:216288193G>C	ENST00000359671.1	-	9	1538	c.1273C>G	c.(1273-1275)Cta>Gta	p.L425V	FN1_ENST00000336916.4_Missense_Mutation_p.L425V|FN1_ENST00000446046.1_Missense_Mutation_p.L425V|FN1_ENST00000346544.3_Missense_Mutation_p.L425V|FN1_ENST00000357009.2_Missense_Mutation_p.L425V|FN1_ENST00000421182.1_Missense_Mutation_p.L425V|FN1_ENST00000443816.1_Missense_Mutation_p.L425V|FN1_ENST00000345488.5_Missense_Mutation_p.L425V|FN1_ENST00000357867.4_Missense_Mutation_p.L425V|FN1_ENST00000356005.4_Missense_Mutation_p.L425V|FN1_ENST00000354785.4_Missense_Mutation_p.L425V|FN1_ENST00000323926.6_Missense_Mutation_p.L425V|FN1_ENST00000432072.2_Missense_Mutation_p.L425V|FN1_ENST00000426059.1_Missense_Mutation_p.L425V			P02751	FINC_HUMAN	fibronectin 1	425	Collagen-binding.|Fibronectin type-II 2. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TTGTTGTATAGGAAGGGGAAG	0.463																																																0													134.0	119.0	124.0					2																	216288193		2203	4300	6503	SO:0001583	missense	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1273C>G	2.37:g.216288193G>C	ENSP00000352696:p.Leu425Val		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37		.	.	.	.	.	.	.	.	.	.	G	17.80	3.478700	0.63849	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85	6.06	2.55	0.30701	.	0.000000	0.50627	D	0.000108	T	0.53481	0.1799	L	0.37507	1.11	0.54753	D	0.999983	B;D;B;P;B;B;P;D;B;B;B	0.58970	0.342;0.965;0.098;0.861;0.221;0.262;0.811;0.984;0.221;0.221;0.193	B;D;B;B;B;B;B;D;B;B;B	0.71184	0.147;0.953;0.167;0.298;0.056;0.057;0.38;0.972;0.034;0.034;0.126	T	0.53034	-0.8495	10	0.72032	D	0.01	.	8.825	0.35050	0.3949:0.0:0.6051:0.0	.	425;425;425;425;425;425;425;425;425;425;425	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	V	425	ENSP00000394423:L425V;ENSP00000323534:L425V;ENSP00000338200:L425V;ENSP00000350534:L425V;ENSP00000346839:L425V;ENSP00000352696:L425V;ENSP00000265312:L425V;ENSP00000273049:L425V;ENSP00000349509:L425V;ENSP00000410422:L425V;ENSP00000415018:L425V;ENSP00000399538:L425V;ENSP00000348285:L425V;ENSP00000398907:L425V	ENSP00000265313:L425V	L	-	1	2	FN1	215996438	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.704000	0.37857	0.707000	0.31934	0.655000	0.94253	CTA		0.463	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		6	55	6	55
RARB	5915	hgsc.bcm.edu;ucsc.edu	37	3	25470378	25470378	+	Intron	SNP	A	A	G			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr3:25470378A>G	ENST00000404969.1	+	2	178				RARB_ENST00000437042.2_Intron|RARB_ENST00000330688.4_Splice_Site_p.Q52Q|RARB_ENST00000462272.1_3'UTR			P10826	RARB_HUMAN	retinoic acid receptor, beta						embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	ACACTGCTCAATGTAGGTTTA	0.433																																																0													85.0	73.0	77.0					3																	25470378		2203	4300	6503	SO:0001627	intron_variant	5915			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.179-32306A>G	3.37:g.25470378A>G			P12891|Q00989|Q15298|Q9UN48	Splice_Site	SNP	ENST00000404969.1	37																																																																																					0.433	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		6	40	6	40
CELSR3	1951	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	48678778	48678778	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr3:48678778G>A	ENST00000164024.4	-	33	9284	c.9004C>T	c.(9004-9006)Cgg>Tgg	p.R3002W	MIR4793_ENST00000577502.1_RNA|CELSR3_ENST00000544264.1_Missense_Mutation_p.R3007W	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3002					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCTGGGCCCGGCCCAGAGAA	0.652																																																0													55.0	63.0	60.0					3																	48678778		2202	4300	6502	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.9004C>T	3.37:g.48678778G>A	ENSP00000164024:p.Arg3002Trp		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509395	0.64522	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.71103	-0.54;-0.53	5.12	2.21	0.28008	.	.	.	.	.	T	0.49012	0.1532	N	0.08118	0	0.30603	N	0.760309	P;P;D	0.56968	0.956;0.926;0.978	B;B;B	0.40410	0.292;0.153;0.328	T	0.51710	-0.8671	9	0.56958	D	0.05	.	11.1893	0.48675	0.0:0.1225:0.6423:0.2352	.	3007;3002;3100	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	W	3002;3007	ENSP00000164024:R3002W;ENSP00000445694:R3007W	ENSP00000164024:R3002W	R	-	1	2	CELSR3	48653782	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	4.589000	0.61006	0.136000	0.18733	0.514000	0.50259	CGG		0.652	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		25	125	25	125
COPB2	9276	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	139085462	139085462	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr3:139085462G>A	ENST00000333188.5	-	15	2013	c.1832C>T	c.(1831-1833)cCt>cTt	p.P611L	COPB2_ENST00000507777.1_Missense_Mutation_p.P582L	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	611					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TGGAATGGTAGGAAGGACCTT	0.398																																																0													73.0	74.0	74.0					3																	139085462		2203	4300	6503	SO:0001583	missense	9276			BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.1832C>T	3.37:g.139085462G>A	ENSP00000329419:p.Pro611Leu		B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	G	34	5.294868	0.95546	.	.	ENSG00000184432	ENST00000333188;ENST00000507777	T;T	0.64618	-0.11;-0.0	5.83	5.83	0.93111	Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	D	0.83294	0.5223	H	0.94925	3.6	0.80722	D	1	P	0.48764	0.915	P	0.55749	0.783	D	0.87025	0.2131	10	0.72032	D	0.01	-18.407	20.1197	0.97955	0.0:0.0:1.0:0.0	.	611	P35606	COPB2_HUMAN	L	611;582	ENSP00000329419:P611L;ENSP00000422295:P582L	ENSP00000329419:P611L	P	-	2	0	COPB2	140568152	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.765000	0.98953	2.770000	0.95276	0.650000	0.86243	CCT		0.398	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		11	45	11	45
DNAJB14	79982	hgsc.bcm.edu;ucsc.edu	37	4	100822294	100822294	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr4:100822294T>C	ENST00000442697.2	-	8	1185	c.1031A>G	c.(1030-1032)tAt>tGt	p.Y344C		NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	344						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		TTTTGCTGCATACTGCATATC	0.373																																																0													82.0	78.0	79.0					4																	100822294		2203	4299	6502	SO:0001583	missense	79982			BC022248	CCDS34035.1, CCDS75171.1	4q23	2011-09-02			ENSG00000164031	ENSG00000164031		"""Heat shock proteins / DNAJ (HSP40)"""	25881	protein-coding gene	gene with protein product							Standard	NM_001031723		Approved	FLJ14281	uc003hvl.4	Q8TBM8	OTTHUMG00000131049	ENST00000442697.2:c.1031A>G	4.37:g.100822294T>C	ENSP00000404381:p.Tyr344Cys		Q6UXN1|Q7Z3P0|Q86TA7|Q86TM0|Q9GZU9	Missense_Mutation	SNP	ENST00000442697.2	37	CCDS34035.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.846835	0.71603	.	.	ENSG00000164031	ENST00000442697	T	0.45668	0.89	5.71	5.71	0.89125	Domain of unknown function DUF1977, DnaJ-like (1);	0.126578	0.56097	D	0.000036	T	0.59500	0.2198	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.71674	0.997;0.998	P;D	0.63192	0.905;0.912	T	0.58451	-0.7634	10	0.40728	T	0.16	.	15.9869	0.80160	0.0:0.0:0.0:1.0	.	344;259	Q8TBM8;Q8TBM8-2	DJB14_HUMAN;.	C	344	ENSP00000404381:Y344C	ENSP00000404381:Y344C	Y	-	2	0	DNAJB14	101041317	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.198000	0.77823	2.171000	0.68590	0.533000	0.62120	TAT		0.373	DNAJB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253696.2	NM_001031723.2		8	59	8	59
ABLIM3	22885	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	148617131	148617131	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr5:148617131T>C	ENST00000506113.1	+	10	1491	c.1009T>C	c.(1009-1011)Tcc>Ccc	p.S337P	ABLIM3_ENST00000519549.1_3'UTR|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000326685.7_Intron|ABLIM3_ENST00000356541.3_Intron|ABLIM3_ENST00000508983.1_Missense_Mutation_p.S337P|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.S337P|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000504238.1_Intron			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	337					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGATACATGTCCGACGAGAT	0.522																																																0													140.0	141.0	141.0					5																	148617131		2203	4300	6503	SO:0001583	missense	22885			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1009T>C	5.37:g.148617131T>C	ENSP00000425394:p.Ser337Pro		A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	T	19.85	3.903908	0.72754	.	.	ENSG00000173210	ENST00000309868;ENST00000506113;ENST00000508983	T;T;T	0.55760	0.5;0.5;0.56	5.64	5.64	0.86602	.	0.058218	0.64402	D	0.000001	T	0.60353	0.2262	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.60480	-0.7255	10	0.39692	T	0.17	.	15.8736	0.79145	0.0:0.0:0.0:1.0	.	337	O94929	ABLM3_HUMAN	P	337	ENSP00000310309:S337P;ENSP00000425394:S337P;ENSP00000420855:S337P	ENSP00000310309:S337P	S	+	1	0	ABLIM3	148597324	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.090000	0.64498	2.149000	0.67028	0.533000	0.62120	TCC		0.522	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		29	117	29	117
ATP10B	23120	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	160049524	160049524	+	Silent	SNP	G	G	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr5:160049524G>T	ENST00000327245.5	-	14	2535	c.1689C>A	c.(1687-1689)acC>acA	p.T563T	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	563					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTCTGACAAGGTCTCCAACC	0.488																																																0													98.0	103.0	101.0					5																	160049524		1992	4165	6157	SO:0001819	synonymous_variant	23120			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1689C>A	5.37:g.160049524G>T			Q9H725	Silent	SNP	ENST00000327245.5	37	CCDS43394.1																																																																																				0.488	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		17	89	17	89
PKHD1	5314	hgsc.bcm.edu;ucsc.edu	37	6	51897876	51897876	+	Missense_Mutation	SNP	A	A	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr6:51897876A>T	ENST00000371117.3	-	29	3591	c.3316T>A	c.(3316-3318)Tta>Ata	p.L1106I	PKHD1_ENST00000340994.4_Missense_Mutation_p.L1106I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1106					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACTGGATTTAAGGAAGAGACA	0.383																																																0													123.0	119.0	120.0					6																	51897876		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3316T>A	6.37:g.51897876A>T	ENSP00000360158:p.Leu1106Ile		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.175245	0.78564	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88664	-2.2;-2.41	5.99	5.99	0.97316	.	0.101514	0.43747	D	0.000539	D	0.89698	0.6790	M	0.68952	2.095	0.33096	D	0.538537	D;D	0.65815	0.995;0.976	P;P	0.59546	0.859;0.7	D	0.87786	0.2615	10	0.22109	T	0.4	.	15.653	0.77112	1.0:0.0:0.0:0.0	.	1106;1106	P08F94-2;P08F94	.;PKHD1_HUMAN	I	1106	ENSP00000360158:L1106I;ENSP00000341097:L1106I	ENSP00000341097:L1106I	L	-	1	2	PKHD1	52005835	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.770000	0.47662	2.292000	0.77174	0.482000	0.46254	TTA		0.383	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		6	56	6	56
MAP7	9053	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	136710581	136710581	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr6:136710581T>A	ENST00000354570.3	-	4	729	c.319A>T	c.(319-321)Aag>Tag	p.K107*	MAP7_ENST00000544465.1_Nonsense_Mutation_p.K92*|MAP7_ENST00000454590.1_Nonsense_Mutation_p.K129*|MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000438100.2_Nonsense_Mutation_p.K129*	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	107					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AACCTCTTCTTCCGCTCTTCC	0.542																																																0													121.0	116.0	118.0					6																	136710581		2203	4300	6503	SO:0001587	stop_gained	9053			X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.319A>T	6.37:g.136710581T>A	ENSP00000346581:p.Lys107*		B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Nonsense_Mutation	SNP	ENST00000354570.3	37	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	T	36	5.714804	0.96830	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100	.	.	.	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.5132	15.1529	0.72717	0.0:0.0:0.0:1.0	.	.	.	.	X	107;129;92;129	.	ENSP00000346581:K107X	K	-	1	0	MAP7	136752274	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.631000	0.61304	2.053000	0.61076	0.455000	0.32223	AAG		0.542	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		25	135	25	135
SYNE1	23345	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	152651648	152651648	+	Silent	SNP	C	C	T	rs200419328	byFrequency	TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr6:152651648C>T	ENST00000367255.5	-	78	14773	c.14172G>A	c.(14170-14172)gcG>gcA	p.A4724A	SYNE1_ENST00000423061.1_Silent_p.A4653A|SYNE1_ENST00000448038.1_Silent_p.A4653A|SYNE1_ENST00000341594.5_Silent_p.A4471A|SYNE1_ENST00000265368.4_Silent_p.A4724A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4724					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCCCAAGGCCCGCCACCTCGT	0.552										HNSCC(10;0.0054)			C|||	2	0.000399361	0.0008	0.0	5008	,	,		20202	0.0		0.001	False		,,,				2504	0.0															0													51.0	58.0	56.0					6																	152651648		2203	4300	6503	SO:0001819	synonymous_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14172G>A	6.37:g.152651648C>T			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																				0.552	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		11	60	11	60
CDK13	8621	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	40102644	40102644	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr7:40102644A>G	ENST00000181839.4	+	9	3330	c.2725A>G	c.(2725-2727)Act>Gct	p.T909A	CDK13_ENST00000340829.5_Missense_Mutation_p.T909A|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	909	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CGAACTCTTCACTAAAAAACC	0.333																																																0													123.0	126.0	125.0					7																	40102644		2203	4300	6503	SO:0001583	missense	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2725A>G	7.37:g.40102644A>G	ENSP00000181839:p.Thr909Ala		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	A	17.21	3.331497	0.60853	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.48201	0.82;0.82	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.46870	0.1415	N	0.25647	0.755	0.58432	D	0.999996	B;D;P	0.61697	0.043;0.99;0.592	B;P;P	0.51945	0.037;0.685;0.475	T	0.35599	-0.9782	8	.	.	.	-13.5534	16.1325	0.81454	1.0:0.0:0.0:0.0	.	295;909;909	Q9BVE2;Q14004-2;Q14004	.;.;CDK13_HUMAN	A	909	ENSP00000181839:T909A;ENSP00000340557:T909A	.	T	+	1	0	CDK13	40069169	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.698000	0.91311	2.272000	0.75746	0.460000	0.39030	ACT		0.333	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		14	73	14	73
POM121L12	285877	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	53103839	53103839	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr7:53103839C>T	ENST00000408890.4	+	1	491	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	159										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ACAGAGAgcccgccccgcagg	0.721																																																0													13.0	16.0	15.0					7																	53103839		1859	4070	5929	SO:0001583	missense	285877				CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.475C>T	7.37:g.53103839C>T	ENSP00000386133:p.Arg159Cys		Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	7.110	0.575802	0.13623	.	.	ENSG00000221900	ENST00000408890	T	0.23552	1.9	1.81	0.851	0.18989	.	.	.	.	.	T	0.14141	0.0342	N	0.01352	-0.895	0.09310	N	1	D	0.76494	0.999	P	0.56434	0.798	T	0.10520	-1.0626	9	0.46703	T	0.11	.	5.2207	0.15368	0.342:0.658:0.0:0.0	.	159	Q8N7R1	P1L12_HUMAN	C	159	ENSP00000386133:R159C	ENSP00000386133:R159C	R	+	1	0	POM121L12	53071333	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.333000	0.07894	0.312000	0.23038	0.555000	0.69702	CGC		0.721	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		11	47	11	47
VDAC3	7419	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	42259491	42259491	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr8:42259491C>T	ENST00000022615.4	+	7	577	c.509C>T	c.(508-510)gCc>gTc	p.A170V	VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000521158.1_Missense_Mutation_p.A171V|VDAC3_ENST00000392935.3_Missense_Mutation_p.A171V			Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	170					adenine transport (GO:0015853)	extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	AATAATTTCGCCCTGGGTTAC	0.463																																																0													72.0	69.0	70.0					8																	42259491		2203	4300	6503	SO:0001583	missense	7419			AF038962	CCDS6131.1, CCDS47850.1	8p11.21	2011-11-15			ENSG00000078668	ENSG00000078668		"""Voltage-dependent anion channels"""	12674	protein-coding gene	gene with protein product		610029				9653160, 9781040	Standard	NM_001135694		Approved	HD-VDAC3	uc003xpc.3	Q9Y277	OTTHUMG00000164168	ENST00000022615.4:c.509C>T	8.37:g.42259491C>T	ENSP00000022615:p.Ala170Val		Q9UIS0	Missense_Mutation	SNP	ENST00000022615.4	37	CCDS6131.1	.	.	.	.	.	.	.	.	.	.	C	32	5.106547	0.94292	.	.	ENSG00000078668	ENST00000392935;ENST00000521158;ENST00000022615	T;T;T	0.48201	0.82;0.82;0.82	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.57344	0.2047	M	0.84156	2.68	0.80722	D	1	P	0.45396	0.857	B	0.43018	0.405	T	0.62506	-0.6840	9	.	.	.	-5.7761	17.6115	0.88055	0.0:1.0:0.0:0.0	.	170	Q9Y277	VDAC3_HUMAN	V	171;171;170	ENSP00000442811:A171V;ENSP00000428845:A171V;ENSP00000022615:A170V	.	A	+	2	0	VDAC3	42378648	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.776000	0.85560	2.832000	0.97577	0.650000	0.86243	GCC		0.463	VDAC3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377574.1			9	57	9	57
GSDMD	79792	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	144642132	144642132	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr8:144642132C>T	ENST00000526406.1	+	6	1286	c.403C>T	c.(403-405)Cat>Tat	p.H135Y	GSDMD_ENST00000262580.4_Missense_Mutation_p.H135Y|GSDMD_ENST00000533063.1_Missense_Mutation_p.H183Y	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	135					cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GACTCTGCTCCATGAGAGGTG	0.537																																																0													26.0	29.0	28.0					8																	144642132		2199	4298	6497	SO:0001583	missense	79792			AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"""gasdermin domain containing 1"""	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.403C>T	8.37:g.144642132C>T	ENSP00000433209:p.His135Tyr		D3DWJ9|Q96Q98	Missense_Mutation	SNP	ENST00000526406.1	37	CCDS34956.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424829	0.25639	.	.	ENSG00000104518	ENST00000526406;ENST00000533348;ENST00000533063;ENST00000262580;ENST00000534018;ENST00000533888	T;T;T;T;T;T	0.33865	1.85;2.74;1.83;1.85;1.39;2.52	4.7	0.176	0.15049	.	2.080600	0.02011	N	0.046970	T	0.32496	0.0831	L	0.36672	1.1	0.09310	N	1	P;P;P;P	0.46457	0.878;0.866;0.866;0.838	B;B;B;B	0.41894	0.313;0.369;0.369;0.253	T	0.35325	-0.9793	10	0.66056	D	0.02	0.6255	7.5173	0.27608	0.5393:0.3213:0.1394:0.0	.	165;135;135;183	Q6ZRV8;A8K702;P57764;G3V1A6	.;.;GSDMD_HUMAN;.	Y	135;135;183;135;151;135	ENSP00000433209:H135Y;ENSP00000434386:H135Y;ENSP00000433958:H183Y;ENSP00000262580:H135Y;ENSP00000436684:H151Y;ENSP00000437065:H135Y	ENSP00000262580:H135Y	H	+	1	0	GSDMD	144713275	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.644000	0.05415	0.160000	0.19432	0.543000	0.68304	CAT		0.537	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	NM_024736		9	55	9	55
SLC24A2	25769	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	19786146	19786146	+	Missense_Mutation	SNP	C	C	G			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr9:19786146C>G	ENST00000341998.2	-	1	780	c.719G>C	c.(718-720)cGa>cCa	p.R240P	SLC24A2_ENST00000286344.3_Missense_Mutation_p.R240P	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	240					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		AGACACATCTCGAAAGAGCGG	0.393																																																0													92.0	87.0	89.0					9																	19786146		2203	4300	6503	SO:0001583	missense	25769			AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.719G>C	9.37:g.19786146C>G	ENSP00000344801:p.Arg240Pro		B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271938	0.80469	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.64991	-0.13;-0.13	5.91	5.91	0.95273	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.89153	0.6634	H	0.99074	4.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93057	0.6471	9	.	.	.	.	20.2896	0.98541	0.0:1.0:0.0:0.0	.	240;240	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	P	240	ENSP00000344801:R240P;ENSP00000286344:R240P	.	R	-	2	0	SLC24A2	19776146	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.814000	0.86154	2.794000	0.96219	0.655000	0.94253	CGA		0.393	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		10	86	10	86
EXTL1	2134	broad.mit.edu;ucsc.edu	37	1	26360306	26360306	+	Silent	SNP	C	C	T	rs137944707	byFrequency	TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr1:26360306C>T	ENST00000374280.3	+	9	2505	c.1638C>T	c.(1636-1638)aaC>aaT	p.N546N		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	546					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGGACCAACGAATTCTCCA	0.597													C|||	4	0.000798722	0.0023	0.0	5008	,	,		16773	0.0		0.001	False		,,,				2504	0.0															0								C		12,4394	20.2+/-43.8	0,12,2191	88.0	85.0	86.0		1638	-9.8	0.4	1	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	EXTL1	NM_004455.2		0,13,6490	TT,TC,CC		0.0116,0.2724,0.1		546/677	26360306	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	2134			U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.1638C>T	1.37:g.26360306C>T			Q6GSC1	Silent	SNP	ENST00000374280.3	37	CCDS271.1																																																																																				0.597	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		17	78	17	78
SPRYD3	84926	broad.mit.edu;ucsc.edu	37	12	53468957	53468957	+	Missense_Mutation	SNP	A	A	C			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr12:53468957A>C	ENST00000301463.4	-	4	379	c.293T>G	c.(292-294)cTg>cGg	p.L98R	SPRYD3_ENST00000547837.1_Missense_Mutation_p.L135R	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	98	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CTGAGGGACCAGCCCCACAGC	0.562																																																0													96.0	94.0	94.0					12																	53468957		2203	4300	6503	SO:0001583	missense	84926			AK074694	CCDS8845.1	12q13.13	2006-11-29		2006-02-02		ENSG00000167778			25920	protein-coding gene	gene with protein product						14702039	Standard	NM_032840		Approved	FLJ14800	uc001sbt.2	Q8NCJ5	OTTHUMG00000170101	ENST00000301463.4:c.293T>G	12.37:g.53468957A>C	ENSP00000301463:p.Leu98Arg		B9EG99|Q96SK5	Missense_Mutation	SNP	ENST00000301463.4	37	CCDS8845.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.379048	0.82682	.	.	ENSG00000167778	ENST00000301463;ENST00000547837	T;T	0.62364	0.03;0.03	5.08	5.08	0.68730	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.077082	0.49916	D	0.000133	T	0.80138	0.4568	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.83469	0.0058	10	0.87932	D	0	.	13.136	0.59409	1.0:0.0:0.0:0.0	.	98	Q8NCJ5	SPRY3_HUMAN	R	98;135	ENSP00000301463:L98R;ENSP00000449452:L135R	ENSP00000301463:L98R	L	-	2	0	SPRYD3	51755224	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.314000	0.89980	2.271000	0.75665	0.459000	0.35465	CTG		0.562	SPRYD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407264.1	NM_032840		27	173	27	173
LZTR1	8216	broad.mit.edu;ucsc.edu	37	22	21347144	21347144	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr22:21347144G>A	ENST00000215739.8	+	11	1570	c.1211G>A	c.(1210-1212)gGg>gAg	p.G404E	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.G385E	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	404			G -> R (in SWNTS2). {ECO:0000269|PubMed:24362817}.		anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TACATCTTCGGGGGCACGGTG	0.652																																																0													55.0	46.0	49.0					22																	21347144		2200	4300	6500	SO:0001583	missense	8216			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1211G>A	22.37:g.21347144G>A	ENSP00000215739:p.Gly404Glu		Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	G	32	5.144980	0.94603	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.79749	-1.3;-1.3	4.98	4.98	0.66077	Kelch-type beta propeller (1);	0.104019	0.64402	D	0.000003	D	0.90484	0.7019	M	0.89414	3.03	0.80722	D	1	D;D;D;D	0.76494	0.993;0.999;0.993;0.992	D;D;D;P	0.77557	0.939;0.99;0.919;0.853	D	0.91883	0.5517	10	0.87932	D	0	-45.2203	13.6201	0.62132	0.0:0.0:1.0:0.0	.	385;363;404;363	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	E	363;404;385	ENSP00000215739:G404E;ENSP00000374006:G385E	ENSP00000215739:G404E	G	+	2	0	LZTR1	19677144	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.529000	0.98049	2.582000	0.87167	0.655000	0.94253	GGG		0.652	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		3	12	3	12
GSDMD	79792	broad.mit.edu;ucsc.edu	37	8	144645068	144645068	+	Silent	SNP	C	C	A			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr8:144645068C>A	ENST00000526406.1	+	14	2332	c.1449C>A	c.(1447-1449)ccC>ccA	p.P483P	GSDMD_ENST00000262580.4_Silent_p.P483P|GSDMD_ENST00000533063.1_Silent_p.P531P	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	483				SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861). {ECO:0000305}.	cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GCCAGGAGCCCCACTAGCCTG	0.667																																																0													23.0	23.0	23.0					8																	144645068		2197	4293	6490	SO:0001819	synonymous_variant	79792			AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"""gasdermin domain containing 1"""	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.1449C>A	8.37:g.144645068C>A			D3DWJ9|Q96Q98	Silent	SNP	ENST00000526406.1	37	CCDS34956.1	.	.	.	.	.	.	.	.	.	.	C	7.543	0.661029	0.14645	.	.	ENSG00000104518	ENST00000525208	.	.	.	4.9	-1.74	0.08056	.	2.452250	0.01172	N	0.006884	T	0.20495	0.0493	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.05321	-1.0892	5	.	.	.	-1.9863	2.8545	0.05568	0.1304:0.3445:0.3623:0.1628	.	.	.	.	H	176	.	.	P	+	2	0	GSDMD	144716211	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.097000	0.11042	-0.432000	0.07297	0.643000	0.83706	CCC		0.667	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	NM_024736		5	30	5	30
BMPR1B	658	broad.mit.edu;hgsc.bcm.edu	37	4	96046194	96046194	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr4:96046194delC	ENST00000515059.1	+	8	790	c.507delC	c.(505-507)tacfs	p.Y169fs	BMPR1B_ENST00000264568.4_Frame_Shift_Del_p.Y169fs|BMPR1B_ENST00000440890.2_Frame_Shift_Del_p.Y199fs|BMPR1B_ENST00000394931.1_Frame_Shift_Del_p.Y169fs	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	169					BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		ATGAAACTTACATTCCTCCTG	0.408																																																0													83.0	82.0	82.0					4																	96046194		2203	4300	6503	SO:0001589	frameshift_variant	658			D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.507delC	4.37:g.96046194delC	ENSP00000426617:p.Tyr169fs		B2R953|B4DSV1|P78366	Frame_Shift_Del	DEL	ENST00000515059.1	37	CCDS3642.1																																																																																				0.408	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3	NM_001203		15	50	15	50
