#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_NTotCov_SOL	i_NVarCov_SOL	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_TTotCov_SOL	i_TVarCov_SOL	i_Transcript_Id	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_dbSNPPopFreq	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
ANKRD17	26057	hgsc.bcm.edu	37	4	73943167	73943167	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr4:73943167G>T	ENST00000358602.4	-	32	7608	c.7492C>A	c.(7492-7494)Caa>Aaa	p.Q2498K	ANKRD17_ENST00000330838.6_Missense_Mutation_p.Q2247K|ANKRD17_ENST00000509867.2_Missense_Mutation_p.Q2385K	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2498					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Q2498E(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCCATTGCTTGATGTTGTGAA	0.453																																					p.Q2498K		.											ANKRD17,NS,carcinoma,0,1	ANKRD17	0	1	Substitution - Missense(1)	lung(1)	c.C7492A						.						191.0	171.0	178.0					4																	73943167		2203	4300	6503	SO:0001583	missense	26057	exon32			TTGCTTGATGTTG	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.7492C>A	4.37:g.73943167G>T	ENSP00000351416:p.Gln2498Lys	Somatic	45	0		WXS	Illumina HiSeq	.	46	2	NM_032217	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038455	0.75617	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867	T;T;T	0.74421	-0.84;-0.79;-0.78	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000008	D	0.84696	0.5529	L	0.58810	1.83	0.47862	D	0.999539	P;P;P;P	0.52577	0.954;0.954;0.924;0.924	D;D;P;P	0.67900	0.954;0.954;0.9;0.9	D	0.85269	0.1055	10	0.87932	D	0	.	19.7278	0.96172	0.0:0.0:1.0:0.0	.	2497;2247;2498;2385	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	K	2498;1905;2247;2385	ENSP00000351416:Q2498K;ENSP00000332265:Q2247K;ENSP00000427151:Q2385K	ENSP00000332265:Q2247K	Q	-	1	0	ANKRD17	74162031	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.766000	0.91728	2.681000	0.91329	0.563000	0.77884	CAA	.		0.453	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217	
NONO	4841	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	70516449	70516449	+	Nonsense_Mutation	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chrX:70516449C>T	ENST00000276079.8	+	6	890	c.685C>T	c.(685-687)Cag>Tag	p.Q229*	NONO_ENST00000373841.1_Nonsense_Mutation_p.Q229*|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000535149.1_Nonsense_Mutation_p.Q140*|NONO_ENST00000373856.3_Nonsense_Mutation_p.Q229*	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	229	DBHS.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					GCCCATGGACCAGTTAGATGA	0.423			T	TFE3	papillary renal cancer																																p.Q229X		.		Dom	yes		X	Xq13.1	4841	"""non-POU domain containing, octamer-binding"""		E	.	.	.	0			c.C685T						.						89.0	62.0	71.0					X																	70516449		2203	4300	6503	SO:0001587	stop_gained	4841	exon7			ATGGACCAGTTAG	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.685C>T	X.37:g.70516449C>T	ENSP00000276079:p.Gln229*	Somatic	31	0		WXS	Illumina HiSeq	.	26	11	NM_001145408	B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Nonsense_Mutation	SNP	ENST00000276079.8	37	CCDS14410.1	.	.	.	.	.	.	.	.	.	.	c	37	6.471847	0.97594	.	.	ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841	.	.	.	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-9.3867	16.9552	0.86257	0.0:1.0:0.0:0.0	.	.	.	.	X	140;229;229;229	.	ENSP00000276079:Q229X	Q	+	1	0	NONO	70433174	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.501000	0.81600	2.269000	0.75478	0.529000	0.55759	CAG	.		0.423	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363	
MAML3	55534	hgsc.bcm.edu	37	4	140811971	140811971	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr4:140811971G>A	ENST00000509479.2	-	2	1475	c.619C>T	c.(619-621)Ccc>Tcc	p.P207S	MAML3_ENST00000327122.5_Missense_Mutation_p.P51S|MAML3_ENST00000398940.1_5'Flank	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					ATGTTACTGGGCAAATTGTTG	0.488																																					p.P207S		.											MAML3_ENST00000509479,NS,carcinoma,0,2	MAML3_ENST00000509479	0	0			c.C619T						.						84.0	82.0	83.0					4																	140811971		2051	4201	6252	SO:0001583	missense	55534	exon2			TACTGGGCAAATT	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.619C>T	4.37:g.140811971G>A	ENSP00000421180:p.Pro207Ser	Somatic	54	0		WXS	Illumina HiSeq	.	61	3	NM_018717		Missense_Mutation	SNP	ENST00000509479.2	37	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.758456	0.31137	.	.	ENSG00000196782	ENST00000509479;ENST00000327122	T	0.23552	1.9	5.05	5.05	0.67936	.	0.075962	0.52532	D	0.000069	T	0.22205	0.0535	L	0.47716	1.5	0.80722	D	1	B	0.14438	0.01	B	0.11329	0.006	T	0.06862	-1.0803	10	0.62326	D	0.03	.	7.8866	0.29653	0.0807:0.0:0.758:0.1613	.	207	Q96JK9	MAML3_HUMAN	S	207;51	ENSP00000421180:P207S	ENSP00000313316:P51S	P	-	1	0	MAML3	141031421	1.000000	0.71417	0.819000	0.32651	0.813000	0.45954	1.987000	0.40687	2.326000	0.78906	0.585000	0.79938	CCC	.		0.488	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2		
DENND2A	27147	hgsc.bcm.edu	37	7	140246698	140246698	+	Silent	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr7:140246698G>T	ENST00000275884.6	-	12	2496	c.2079C>A	c.(2077-2079)gcC>gcA	p.A693A	DENND2A_ENST00000492720.1_Silent_p.A693A|DENND2A_ENST00000537639.1_Silent_p.A693A|DENND2A_ENST00000496613.1_Silent_p.A693A			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	693	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GCTGAACCAGGGCAGGAGAGA	0.527																																					p.A693A		.											DENND2A,right_upper_lobe,carcinoma,0,1	DENND2A	0	0			c.C2079A						.						70.0	73.0	72.0					7																	140246698		1983	4178	6161	SO:0001819	synonymous_variant	27147	exon11			AACCAGGGCAGGA	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.2079C>A	7.37:g.140246698G>T		Somatic	33	0		WXS	Illumina HiSeq	.	26	2	NM_015689	C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	CCDS43659.1																																																																																			.		0.527	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689	
HPSE2	60495	hgsc.bcm.edu	37	10	100481428	100481428	+	Silent	SNP	G	G	A	rs142810016		TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr10:100481428G>A	ENST00000370552.3	-	5	1001	c.942C>T	c.(940-942)atC>atT	p.I314I	HPSE2_ENST00000370546.1_Silent_p.I314I|HPSE2_ENST00000404542.1_Silent_p.I202I|HPSE2_ENST00000370549.1_Silent_p.I256I	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	314					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)	p.I314I(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CTAGGAGGGCGATGACATTCT	0.398																																					p.I314I		.											HPSE2_ENST00000370546,NS,carcinoma,0,1	HPSE2_ENST00000370546	0	2	Substitution - coding silent(2)	kidney(2)	c.C942T						.						53.0	52.0	52.0					10																	100481428		2203	4300	6503	SO:0001819	synonymous_variant	60495	exon5			GAGGGCGATGACA	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.942C>T	10.37:g.100481428G>A		Somatic	78	0		WXS	Illumina HiSeq	.	57	4	NM_001166246	Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Silent	SNP	ENST00000370552.3	37	CCDS7477.1																																																																																			.		0.398	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828	
SLC32A1	140679	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	37353459	37353459	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr20:37353459T>A	ENST00000217420.1	+	1	355	c.92T>A	c.(91-93)aTg>aAg	p.M31K		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	31					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TTCGCCAGGATGGGTTTTCAG	0.632																																					p.M31K		.											SLC32A1,lower_third,carcinoma,0,1	SLC32A1	0	0			c.T92A						.						48.0	32.0	38.0					20																	37353459		2203	4300	6503	SO:0001583	missense	140679	exon1			CCAGGATGGGTTT	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.92T>A	20.37:g.37353459T>A	ENSP00000217420:p.Met31Lys	Somatic	29	0		WXS	Illumina HiSeq	.	29	5	NM_080552	Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	T	15.34	2.805981	0.50421	.	.	ENSG00000101438	ENST00000217420	T	0.08282	3.11	4.85	3.73	0.42828	.	0.044040	0.85682	D	0.000000	T	0.05502	0.0145	N	0.19112	0.55	0.48185	D	0.999603	B	0.17038	0.02	B	0.12156	0.007	T	0.39961	-0.9588	10	0.21540	T	0.41	-34.28	9.8857	0.41260	0.0:0.0:0.1724:0.8276	.	31	Q9H598	VIAAT_HUMAN	K	31	ENSP00000217420:M31K	ENSP00000217420:M31K	M	+	2	0	SLC32A1	36786873	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	5.932000	0.70121	0.674000	0.31244	-0.466000	0.05196	ATG	.		0.632	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552	
DENND4B	9909	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642																																					p.Q900Q		.											DENND4B_ENST00000361217,NS,carcinoma,0,6	DENND4B_ENST00000361217	0	2	Substitution - coding silent(2)	lung(2)	c.G2700A						.						33.0	42.0	39.0					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909	exon18			CTGTTGCTGCTGC	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2700G>A	1.37:g.153907309C>T		Somatic	19	0		WXS	Illumina HiSeq	.	24	4	NM_014856	Q5T4K0	Silent	SNP	ENST00000361217.4	37	CCDS44228.1																																																																																			.		0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806	
ABL2	27	hgsc.bcm.edu;ucsc.edu	37	1	179077425	179077425	+	Silent	SNP	G	G	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr1:179077425G>A	ENST00000502732.1	-	12	3180	c.2977C>T	c.(2977-2979)Ctg>Ttg	p.L993L	ABL2_ENST00000512653.1_Silent_p.L978L|ABL2_ENST00000344730.3_Silent_p.L875L|ABL2_ENST00000408940.3_Silent_p.L957L|ABL2_ENST00000507173.1_Silent_p.L869L|ABL2_ENST00000367623.4_Silent_p.L972L|ABL2_ENST00000511413.1_Silent_p.L890L|ABL2_ENST00000504405.1_Silent_p.L854L	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	993	Pro-rich.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GGATGCTGCAGTAGTCTCATC	0.552			T	ETV6	AML																																p.L993L		.		Dom	yes		1	1q24-q25	27	v-abl Abelson murine leukemia viral oncogene homolog 2		L	.	.	.	0			c.C2977T						.						123.0	115.0	118.0					1																	179077425		2203	4300	6503	SO:0001819	synonymous_variant	27	exon12			GCTGCAGTAGTCT	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.2977C>T	1.37:g.179077425G>A		Somatic	19	0		WXS	Illumina HiSeq	.	32	4	NM_007314	A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Silent	SNP	ENST00000502732.1	37	CCDS30947.1																																																																																			.		0.552	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158	
SLC7A2	6542	hgsc.bcm.edu	37	8	17401015	17401015	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr8:17401015C>T	ENST00000494857.1	+	3	385	c.167C>T	c.(166-168)gCt>gTt	p.A56V	SLC7A2_ENST00000470360.1_Missense_Mutation_p.A96V|SLC7A2_ENST00000522656.1_Missense_Mutation_p.A56V|SLC7A2_ENST00000004531.10_Missense_Mutation_p.A96V|SLC7A2_ENST00000398090.3_Missense_Mutation_p.A96V	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	56					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)	p.A56D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TATGTCCTCGCTGGGGAGGTG	0.587																																					p.A96V		.											SLC7A2,NS,carcinoma,0,1	SLC7A2	0	1	Substitution - Missense(1)	ovary(1)	c.C287T						.						65.0	54.0	57.0					8																	17401015		2203	4300	6503	SO:0001583	missense	6542	exon2			TCCTCGCTGGGGA	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.167C>T	8.37:g.17401015C>T	ENSP00000419140:p.Ala56Val	Somatic	49	0		WXS	Illumina HiSeq	.	31	2	NM_001164771	B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417282	0.62622	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63	5.64	5.64	0.86602	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.93835	0.8028	L	0.56340	1.77	0.80722	D	1	D;D;D	0.71674	0.984;0.998;0.975	P;P;D	0.63877	0.828;0.828;0.919	D	0.92904	0.6342	10	0.46703	T	0.11	.	20.0897	0.97814	0.0:1.0:0.0:0.0	.	96;96;56	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	V	56;56;96;96;96	ENSP00000419140:A56V;ENSP00000430464:A56V;ENSP00000419873:A96V;ENSP00000004531:A96V;ENSP00000381164:A96V	ENSP00000004531:A96V	A	+	2	0	SLC7A2	17445394	1.000000	0.71417	0.084000	0.20598	0.040000	0.13550	7.783000	0.85696	2.832000	0.97577	0.655000	0.94253	GCT	.		0.587	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046	
TEX15	56154	hgsc.bcm.edu	37	8	30690813	30690813	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr8:30690813G>T	ENST00000256246.2	-	4	8433	c.8359C>A	c.(8359-8361)Cca>Aca	p.P2787T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2787					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CAGTGTCCTGGATGAAAGGAT	0.279																																					p.P2787T		.											.	.	.	0			c.C8359A						.						38.0	39.0	39.0					8																	30690813		2203	4296	6499	SO:0001583	missense	56154	exon4			GTCCTGGATGAAA	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.8359C>A	8.37:g.30690813G>T	ENSP00000256246:p.Pro2787Thr	Somatic	130	0		WXS	Illumina HiSeq	.	72	3	NM_031271		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	5.658	0.306089	0.10733	.	.	ENSG00000133863	ENST00000256246	T	0.10005	2.92	5.19	4.25	0.50352	.	0.531595	0.15983	N	0.235217	T	0.14960	0.0361	N	0.14661	0.345	0.09310	N	0.999993	D	0.65815	0.995	D	0.63877	0.919	T	0.07195	-1.0785	10	0.87932	D	0	.	10.508	0.44845	0.0:0.0:0.807:0.193	.	2787	Q9BXT5	TEX15_HUMAN	T	2787	ENSP00000256246:P2787T	ENSP00000256246:P2787T	P	-	1	0	TEX15	30810355	0.991000	0.36638	0.798000	0.32154	0.083000	0.17756	1.890000	0.39728	2.857000	0.98124	0.650000	0.86243	CCA	.		0.279	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
ZYX	7791	hgsc.bcm.edu;broad.mit.edu	37	7	143079401	143079401	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr7:143079401G>A	ENST00000322764.5	+	3	614	c.269G>A	c.(268-270)gGa>gAa	p.G90E	AC093673.5_ENST00000429630.1_RNA|ZYX_ENST00000392910.2_5'UTR|ZYX_ENST00000477373.1_Intron|ZYX_ENST00000449423.2_Missense_Mutation_p.G34E	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	90					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					GGTGCTCTGGGAGGTGCCTTC	0.672																																					p.G90E		.											.	.	.	0			c.G269A						.						27.0	29.0	28.0					7																	143079401		2203	4300	6503	SO:0001583	missense	7791	exon3			CTCTGGGAGGTGC	X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.269G>A	7.37:g.143079401G>A	ENSP00000324422:p.Gly90Glu	Somatic	35	0		WXS	Illumina HiSeq	.	26	4	NM_003461	A4D2G6|Q6I9S4	Missense_Mutation	SNP	ENST00000322764.5	37	CCDS5883.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.048931	0.55110	.	.	ENSG00000159840	ENST00000322764;ENST00000449630;ENST00000457235;ENST00000354434;ENST00000449423	T;T;T;T	0.54866	0.55;0.56;0.55;0.65	3.69	3.69	0.42338	.	1.229020	0.06670	U	0.766001	T	0.42471	0.1204	M	0.64997	1.995	0.31951	N	0.609611	P;P	0.37330	0.59;0.59	B;B	0.27262	0.078;0.078	T	0.47341	-0.9125	10	0.14252	T	0.57	.	5.6812	0.17776	0.1934:0.0:0.8066:0.0	.	34;90	B4DQR8;Q15942	.;ZYX_HUMAN	E	90;59;90;89;34	ENSP00000324422:G90E;ENSP00000413467:G59E;ENSP00000346417:G89E;ENSP00000394158:G34E	ENSP00000324422:G90E	G	+	2	0	ZYX	142789523	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.970000	0.49240	1.887000	0.54652	0.561000	0.74099	GGA	.		0.672	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	NM_003461	
CNDP1	84735	hgsc.bcm.edu	37	18	72251796	72251796	+	Nonstop_Mutation	SNP	T	T	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr18:72251796T>A	ENST00000358821.3	+	12	1750	c.1522T>A	c.(1522-1524)Taa>Aaa	p.*508K	CNDP1_ENST00000582365.1_Nonstop_Mutation_p.*465K	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	0						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CCAGCTCCATTAATCACAAGA	0.413																																					p.X508K	Melanoma(32;1029 1042 25286 38395 44237)	.											CNDP1,NS,carcinoma,0,1	CNDP1	0	0			c.T1522A						.						103.0	101.0	102.0					18																	72251796		2203	4300	6503	SO:0001578	stop_lost	84735	exon12			CTCCATTAATCAC		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.1522T>A	18.37:g.72251796T>A	ENSP00000351682:p.*508Lysext*9	Somatic	27	0		WXS	Illumina HiSeq	.	30	2	NM_032649	Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	T	3.519	-0.098175	0.07010	.	.	ENSG00000150656	ENST00000358821	.	.	.	4.59	-1.18	0.09617	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.4971	0.04624	0.2384:0.0826:0.4213:0.2577	.	.	.	.	K	508	.	.	X	+	1	0	CNDP1	70402776	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.857000	0.04286	-0.511000	0.06514	-0.406000	0.06334	TAA	.		0.413	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649	
DARS	1615	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	136664945	136664945	+	Silent	SNP	A	A	G			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr2:136664945A>G	ENST00000264161.4	-	16	1662	c.1447T>C	c.(1447-1449)Ttg>Ctg	p.L483L	DARS_ENST00000537273.1_Silent_p.L383L	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	483					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	ACATTATGCAATCCCAGAAAC	0.413																																					p.L483L		.											.	.	.	0			c.T1447C						.						121.0	108.0	112.0					2																	136664945		2203	4300	6503	SO:0001819	synonymous_variant	1615	exon16			TATGCAATCCCAG	J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	2678	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 1, cytoplasmic"""	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.1447T>C	2.37:g.136664945A>G		Somatic	70	0		WXS	Illumina HiSeq	.	64	16	NM_001349	A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Silent	SNP	ENST00000264161.4	37	CCDS2180.1																																																																																			.		0.413	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	NM_001349	
GAS7	8522	hgsc.bcm.edu	37	17	9862568	9862568	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr17:9862568A>G	ENST00000432992.2	-	5	636	c.476T>C	c.(475-477)cTg>cCg	p.L159P	GAS7_ENST00000580865.1_Missense_Mutation_p.L19P|GAS7_ENST00000396115.2_Missense_Mutation_p.L95P|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000540214.1_Missense_Mutation_p.L95P|GAS7_ENST00000579158.1_Missense_Mutation_p.L95P|GAS7_ENST00000542249.1_Missense_Mutation_p.L95P|GAS7_ENST00000437099.2_Missense_Mutation_p.L95P|GAS7_ENST00000583882.1_Missense_Mutation_p.L19P|GAS7_ENST00000585266.1_Missense_Mutation_p.L99P|GAS7_ENST00000323816.4_Missense_Mutation_p.L99P	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	159					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L159Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TGAGGATCCCAGGTTCTGGGG	0.562			T	MLL	AML*						OREG0024172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L159P		.		Dom	yes		17	17p	8522	growth arrest-specific 7		L	GAS7,NS,carcinoma,0,1	GAS7	0	1	Substitution - Missense(1)	kidney(1)	c.T476C						.						138.0	108.0	118.0					17																	9862568		2203	4300	6503	SO:0001583	missense	8522	exon5			GATCCCAGGTTCT	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.476T>C	17.37:g.9862568A>G	ENSP00000407552:p.Leu159Pro	Somatic	41	0	660	WXS	Illumina HiSeq	.	35	2	NM_201433	A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	ENST00000432992.2	37	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	A	11.96	1.794457	0.31777	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000432992;ENST00000540214;ENST00000537970	T;T;T	0.48522	1.47;2.12;0.81	4.96	3.84	0.44239	.	0.174895	0.37261	N	0.002176	T	0.15609	0.0376	N	0.01576	-0.805	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.13282	-1.0515	9	.	.	.	0.87	4.1957	0.10441	0.7404:0.0:0.2596:0.0	.	111;99;19;159	B7Z2L1;A8KAC2;O60861-2;O60861	.;.;.;GAS7_HUMAN	P	159;99;98;19;95;99	ENSP00000322608:L159P;ENSP00000379421:L99P;ENSP00000446214:L95P	.	L	-	2	0	GAS7	9803293	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.129000	0.57957	2.112000	0.64535	0.529000	0.55759	CTG	.		0.562	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433	
CYP4A22	284541	hgsc.bcm.edu	37	1	47608985	47608985	+	Silent	SNP	C	C	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr1:47608985C>A	ENST00000371891.3	+	5	586	c.555C>A	c.(553-555)gtC>gtA	p.V185V	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Silent_p.V185V|CYP4A22_ENST00000294337.3_Silent_p.V185V	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	185			V -> F (in allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs113777592). {ECO:0000269|PubMed:16806293}.			endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.V185V(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTCTGGAGGTCTTTCAGCACG	0.542																																					p.V185V	Pancreas(88;1240 1470 2099 14214 37557)	.											CYP4A22,colon,carcinoma,0,1	CYP4A22	0	1	Substitution - coding silent(1)	large_intestine(1)	c.C555A						.						73.0	67.0	69.0					1																	47608985		2203	4298	6501	SO:0001819	synonymous_variant	284541	exon5			GGAGGTCTTTCAG		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.555C>A	1.37:g.47608985C>A		Somatic	53	0		WXS	Illumina HiSeq	.	38	2	NM_001010969	Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Silent	SNP	ENST00000371891.3	37	CCDS30707.1																																																																																			.		0.542	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213	
DDHD1	80821	hgsc.bcm.edu	37	14	53619480	53619480	+	Missense_Mutation	SNP	T	T	C	rs140904345|rs55671452|rs200797826	byFrequency	TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr14:53619480T>C	ENST00000323669.5	-	1	336	c.337A>G	c.(337-339)Agc>Ggc	p.S113G	DDHD1_ENST00000395606.1_Missense_Mutation_p.S113G|RP11-547D23.1_ENST00000554235.1_RNA|DDHD1_ENST00000357758.3_Missense_Mutation_p.S113G|AL356020.1_ENST00000584587.1_RNA	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	113					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GACAAGGAGCTGCCGCCGCCG	0.701																																					p.S113G		.											.,102	.	202	0			c.A337G						.						6.0	8.0	7.0					14																	53619480		1971	3847	5818	SO:0001583	missense	80821	exon1			AGGAGCTGCCGCC	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.337A>G	14.37:g.53619480T>C	ENSP00000327104:p.Ser113Gly	Somatic	11	2		WXS	Illumina HiSeq	.	10	0	NM_001160147	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	T	16.03	3.006520	0.54361	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	3.77	2.61	0.31194	.	0.746995	0.12231	N	0.487421	T	0.35566	0.0936	N	0.22421	0.69	0.20975	N	0.999816	P;B;P	0.52577	0.954;0.0;0.954	D;B;D	0.66351	0.916;0.0;0.943	T	0.17167	-1.0378	9	0.18276	T	0.48	-5.0646	3.2899	0.06945	0.0:0.2878:0.2128:0.4994	.	113;113;113	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	G	113	.	ENSP00000327104:S113G	S	-	1	0	DDHD1	52689230	.	.	0.767000	0.31495	0.958000	0.62258	.	.	0.510000	0.28216	0.374000	0.22700	AGC	.		0.701	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1		
ZNF547	284306	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	57888623	57888623	+	Silent	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr19:57888623C>T	ENST00000282282.3	+	4	429	c.279C>T	c.(277-279)agC>agT	p.S93S	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	93					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGACATGTAGCTCACTTCTGA	0.537																																					p.S93S		.											.	.	.	0			c.C279T						.						129.0	102.0	111.0					19																	57888623		2203	4300	6503	SO:0001819	synonymous_variant	284306	exon4			ATGTAGCTCACTT	AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"""Zinc fingers, C2H2-type"", ""-"""	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.279C>T	19.37:g.57888623C>T		Somatic	22	0		WXS	Illumina HiSeq	.	24	7	NM_173631	A8K5Z9|Q96NC4	Silent	SNP	ENST00000282282.3	37	CCDS33131.1																																																																																			.		0.537	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465787.1	NM_173631	
MT-ND2	4536	hgsc.bcm.edu;broad.mit.edu	37	M	2449	2449	+	5'Flank	SNP	G	G	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chrM:2449G>A	ENST00000361453.3	+	0	0				MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						CATGCTCATAAGGAAAGGTTA	0.428																																					.		.											.	.	.	0			.						.																																			SO:0001631	upstream_gene_variant	6053	.			CATAAGGAAAGGT			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2449G>A	Exception_encountered	Somatic	176	0		WXS	Illumina HiSeq	.	586	161	.	Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																				.		0.428	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027	
CYP11B1	1584	hgsc.bcm.edu	37	8	143957206	143957206	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr8:143957206G>T	ENST00000292427.4	-	6	1075	c.1043C>A	c.(1042-1044)gCa>gAa	p.A348E	CYP11B1_ENST00000517471.1_Missense_Mutation_p.A348E|CYP11B1_ENST00000377675.3_Missense_Mutation_p.A419E	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	348			A -> T (in dbSNP:rs6407). {ECO:0000269|PubMed:10391209}.		aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.A348G(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GATGCTGGCTGCGGCGGCCAG	0.652									Familial Hyperaldosteronism type I																												p.A348E		.											CYP11B1,NS,carcinoma,0,1	CYP11B1	0	1	Substitution - Missense(1)	lung(1)	c.C1043A						.						74.0	77.0	76.0					8																	143957206		2203	4300	6503	SO:0001583	missense	1584	exon6	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	CTGGCTGCGGCGG	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1043C>A	8.37:g.143957206G>T	ENSP00000292427:p.Ala348Glu	Somatic	53	0		WXS	Illumina HiSeq	.	33	2	NM_000497	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.332233	0.00227	.	.	ENSG00000160882	ENST00000519285;ENST00000292427;ENST00000517471;ENST00000377675	T;T;T;T	0.73047	-0.71;-0.32;-0.32;-0.32	4.42	0.785	0.18584	.	1.163660	0.06509	N	0.737767	T	0.48519	0.1504	N	0.02916	-0.46	0.09310	N	1	B;B;B;B;B	0.13594	0.0;0.0;0.001;0.001;0.008	B;B;B;B;B	0.19946	0.002;0.002;0.002;0.005;0.027	T	0.31280	-0.9949	10	0.25751	T	0.34	.	12.3348	0.55060	0.0:0.0:0.1834:0.8166	.	419;348;348;348;64	Q4VAR0;Q8TDD0;Q4VAQ9;P15538;Q8N9P8	.;.;.;C11B1_HUMAN;.	E	3;348;348;419	ENSP00000430144:A3E;ENSP00000292427:A348E;ENSP00000428043:A348E;ENSP00000366903:A419E	ENSP00000292427:A348E	A	-	2	0	CYP11B1	143954208	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.484000	0.22308	-0.040000	0.13580	-0.320000	0.08662	GCA	.		0.652	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2		
SPHKAP	80309	hgsc.bcm.edu	37	2	228996762	228996762	+	Silent	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr2:228996762C>T	ENST00000392056.3	-	2	118	c.72G>A	c.(70-72)ccG>ccA	p.P24P	SPHKAP_ENST00000344657.5_Silent_p.P24P	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	24						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGCCCTGCTGCGGTTCCAAAA	0.483																																					p.P24P		.											SPHKAP_ENST00000392056,NS,carcinoma,0,2	SPHKAP_ENST00000392056	0	0			c.G72A						.						87.0	90.0	89.0					2																	228996762		2203	4300	6503	SO:0001819	synonymous_variant	80309	exon2			CTGCTGCGGTTCC		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.72G>A	2.37:g.228996762C>T		Somatic	46	0		WXS	Illumina HiSeq	.	41	2	NM_030623	Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	CCDS46537.1																																																																																			.		0.483	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
DAB1	1600	hgsc.bcm.edu	37	1	57480714	57480714	+	Missense_Mutation	SNP	C	C	T	rs144347021		TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr1:57480714C>T	ENST00000371231.1	-	13	1419	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H	DAB1_ENST00000420954.2_Missense_Mutation_p.R427H|DAB1_ENST00000371236.2_Missense_Mutation_p.R429H|DAB1_ENST00000439789.2_Missense_Mutation_p.R343H|DAB1_ENST00000414851.2_Missense_Mutation_p.R411H|DAB1_ENST00000371234.4_Missense_Mutation_p.R429H|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	462					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GTCGGGTTTGCGGGAGGGCAC	0.562																																					p.R429H		.											DAB1,colon,carcinoma,0,3	DAB1	0	0			c.G1286A						.	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	73.0	76.0	75.0		1286	5.5	1.0	1	dbSNP_134	75	0,8600		0,0,4300	no	missense	DAB1	NM_021080.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	429/556	57480714	1,13005	2203	4300	6503	SO:0001583	missense	1600	exon14			GGTTTGCGGGAGG	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1385G>A	1.37:g.57480714C>T	ENSP00000360275:p.Arg462His	Somatic	26	0		WXS	Illumina HiSeq	.	39	3	NM_021080	A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37		.	.	.	.	.	.	.	.	.	.	C	19.70	3.876503	0.72180	2.27E-4	0.0	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231	T;T;T;T;T;T	0.57907	0.37;0.37;0.4;0.37;1.42;0.43	5.54	5.54	0.83059	.	0.143973	0.64402	D	0.000011	T	0.70911	0.3278	M	0.65975	2.015	0.46631	D	0.999131	D;D;D;P;D	0.76494	0.999;0.996;0.996;0.948;0.999	P;P;P;P;D	0.63957	0.899;0.869;0.868;0.463;0.92	T	0.71998	-0.4423	10	0.72032	D	0.01	-40.0027	19.6787	0.95950	0.0:1.0:0.0:0.0	.	411;462;429;343;427	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	H	429;429;429;427;411;343;462	ENSP00000360280:R429H;ENSP00000360278:R429H;ENSP00000395296:R427H;ENSP00000387581:R411H;ENSP00000409328:R343H;ENSP00000360275:R462H	ENSP00000360275:R462H	R	-	2	0	DAB1	57253302	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.572000	0.53849	2.890000	0.99128	0.650000	0.86243	CGC	0.000		0.562	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080	
PTPRG	5793	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	62268423	62268423	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr3:62268423C>T	ENST00000474889.1	+	28	4311	c.3934C>T	c.(3934-3936)Cgg>Tgg	p.R1312W	PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.R1283W|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1312	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CTTAGAAGTTCGGCACTTTCA	0.423																																					p.R1312W		.											.	.	.	0			c.C3934T						.						210.0	198.0	202.0					3																	62268423		2203	4300	6503	SO:0001583	missense	5793	exon28			GAAGTTCGGCACT	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.3934C>T	3.37:g.62268423C>T	ENSP00000418112:p.Arg1312Trp	Somatic	64	0		WXS	Illumina HiSeq	.	53	8	NM_002841	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969128	0.74131	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	D;D	0.84070	-1.8;-1.8	5.38	5.38	0.77491	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.052053	0.64402	D	0.000001	D	0.91523	0.7323	M	0.78801	2.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.966;0.995;0.997	D	0.91958	0.5576	10	0.87932	D	0	.	19.3366	0.94322	0.0:1.0:0.0:0.0	.	558;1283;1312	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	W	1312;1283	ENSP00000418112:R1312W;ENSP00000295874:R1283W	ENSP00000295874:R1283W	R	+	1	2	PTPRG	62243463	0.998000	0.40836	0.996000	0.52242	0.979000	0.70002	3.783000	0.55409	2.799000	0.96334	0.650000	0.86243	CGG	.		0.423	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841	
TRUB1	142940	hgsc.bcm.edu	37	10	116702491	116702491	+	Missense_Mutation	SNP	G	G	T	rs143607039		TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr10:116702491G>T	ENST00000298746.3	+	2	435	c.374G>T	c.(373-375)cGa>cTa	p.R125L	TRUB1_ENST00000485065.1_3'UTR	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	125					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.R125Q(3)		breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		AGCGCAGCCCGAGGAGTTCTG	0.438																																					p.R125L		.											TRUB1,bladder,carcinoma,0,3	TRUB1	0	3	Substitution - Missense(3)	urinary_tract(1)|large_intestine(1)|breast(1)	c.G374T						.						62.0	63.0	63.0					10																	116702491		2203	4300	6503	SO:0001583	missense	142940	exon2			CAGCCCGAGGAGT	AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"""TruB pseudouridine (psi) synthase homolog 1 (E. coli)"""			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.374G>T	10.37:g.116702491G>T	ENSP00000298746:p.Arg125Leu	Somatic	49	0		WXS	Illumina HiSeq	.	38	2	NM_139169	B2R716|Q53ES2	Missense_Mutation	SNP	ENST00000298746.3	37	CCDS7591.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.530267	0.45073	.	.	ENSG00000165832	ENST00000298746	T	0.13778	2.56	6.07	-1.76	0.08006	Pseudouridine synthase, catalytic domain (1);	0.780271	0.11522	N	0.555625	T	0.11281	0.0275	L	0.27053	0.805	0.24930	N	0.991927	B	0.23591	0.088	B	0.37015	0.239	T	0.44802	-0.9304	10	0.59425	D	0.04	0.0275	6.6592	0.23004	0.5867:0.1744:0.2389:0.0	.	125	Q8WWH5	TRUB1_HUMAN	L	125	ENSP00000298746:R125L	ENSP00000298746:R125L	R	+	2	0	TRUB1	116692481	0.298000	0.24417	0.990000	0.47175	0.994000	0.84299	0.618000	0.24373	-0.226000	0.09899	-0.136000	0.14681	CGA	.		0.438	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1	NM_139169	
CNTNAP5	129684	hgsc.bcm.edu	37	2	125175026	125175026	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr2:125175026G>T	ENST00000431078.1	+	4	752	c.388G>T	c.(388-390)Gca>Tca	p.A130S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	130	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCAGACCTTTGCAGGAAACAT	0.488																																					p.A130S		.											CNTNAP5,right_upper_lobe,carcinoma,0,1	CNTNAP5	0	0			c.G388T						.						76.0	75.0	75.0					2																	125175026		1994	4188	6182	SO:0001583	missense	129684	exon4			ACCTTTGCAGGAA	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.388G>T	2.37:g.125175026G>T	ENSP00000399013:p.Ala130Ser	Somatic	36	0		WXS	Illumina HiSeq	.	28	2	NM_130773	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	4.457	0.084573	0.08583	.	.	ENSG00000155052	ENST00000431078	D	0.98135	-4.74	6.13	0.636	0.17729	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.536195	0.15993	N	0.234707	D	0.87160	0.6108	N	0.02334	-0.595	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.80623	-0.1300	10	0.02654	T	1	.	3.6913	0.08347	0.0991:0.1166:0.3914:0.3929	.	130	Q8WYK1	CNTP5_HUMAN	S	130	ENSP00000399013:A130S	ENSP00000399013:A130S	A	+	1	0	CNTNAP5	124891496	0.054000	0.20591	0.737000	0.30932	0.991000	0.79684	0.408000	0.21065	0.436000	0.26393	0.650000	0.86243	GCA	.		0.488	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
DNAH5	1767	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	13919410	13919410	+	Nonsense_Mutation	SNP	G	G	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr5:13919410G>A	ENST00000265104.4	-	7	954	c.850C>T	c.(850-852)Cga>Tga	p.R284*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	284	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R284*(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGCTCCGCTCGTGGCCCAACG	0.527									Kartagener syndrome																												p.R284X		.											DNAH5,NS,carcinoma,0,1	DNAH5	0	1	Substitution - Nonsense(1)	lung(1)	c.C850T						.						137.0	149.0	145.0					5																	13919410		2203	4300	6503	SO:0001587	stop_gained	1767	exon7	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	CCGCTCGTGGCCC	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.850C>T	5.37:g.13919410G>A	ENSP00000265104:p.Arg284*	Somatic	37	0		WXS	Illumina HiSeq	.	14	6	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	.	38	6.970119	0.97971	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.5	3.66	0.41972	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	12.7594	0.57354	0.0:0.0:0.5864:0.4136	.	.	.	.	X	284	.	ENSP00000265104:R284X	R	-	1	2	DNAH5	13972410	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	4.538000	0.60650	0.643000	0.30638	0.491000	0.48974	CGA	.		0.527	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
CST1	1469	hgsc.bcm.edu;ucsc.edu	37	20	23728528	23728528	+	Silent	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr20:23728528C>T	ENST00000304749.2	-	3	421	c.351G>A	c.(349-351)ttG>ttA	p.L117L	CST1_ENST00000398402.1_Silent_p.L117L	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	117					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.L117L(1)		kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					CGAAAGAGCACAACTGTTTCT	0.527																																					p.L117L		.											CST1,NS,carcinoma,0,2	CST1	0	1	Substitution - coding silent(1)	lung(1)	c.G351A						.						93.0	81.0	85.0					20																	23728528		2203	4300	6503	SO:0001819	synonymous_variant	1469	exon3			AGAGCACAACTGT	M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.351G>A	20.37:g.23728528C>T		Somatic	63	1		WXS	Illumina HiSeq	.	32	4	NM_001898	Q96LE6|Q9UCQ6	Silent	SNP	ENST00000304749.2	37	CCDS13160.1																																																																																			.		0.527	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078351.2	NM_001898	
RPSAP58	388524	hgsc.bcm.edu	37	19	24010294	24010294	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr19:24010294C>G	ENST00000496398.1	+	4	754	c.331C>G	c.(331-333)Cag>Gag	p.Q111E	RPSAP58_ENST00000354585.4_Missense_Mutation_p.Q111E|RP11-255H23.2_ENST00000471224.1_RNA|RP11-255H23.4_ENST00000599944.1_lincRNA					ribosomal protein SA pseudogene 58									p.Q111E(12)		endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						CTTCACTAACCAGATCCAGGC	0.567																																					.		.											RPSAP58_ENST00000496398,NS,carcinoma,0,40	RPSAP58_ENST00000496398	0	12	Substitution - Missense(12)	kidney(6)|urinary_tract(2)|prostate(2)|endometrium(2)	.						.																																			SO:0001583	missense	388524	.			ACTAACCAGATCC			19p12	2010-06-16			ENSG00000205246	ENSG00000205246			36809	pseudogene	pseudogene						19123937	Standard	NR_003662		Approved		uc002nrn.3		OTTHUMG00000158122	ENST00000496398.1:c.331C>G	19.37:g.24010294C>G	ENSP00000417240:p.Gln111Glu	Somatic	34	0		WXS	Illumina HiSeq	.	30	2	.		RNA	SNP	ENST00000496398.1	37		.	.	.	.	.	.	.	.	.	.	.	13.90	2.375690	0.42105	.	.	ENSG00000205246	ENST00000496398;ENST00000354585	T;T	0.21932	1.98;1.98	2.52	2.52	0.30459	.	0.000000	0.64402	U	0.000001	T	0.17619	0.0423	.	.	.	0.48830	D	0.999718	B	0.34226	0.443	B	0.32624	0.149	T	0.11084	-1.0602	9	0.72032	D	0.01	.	10.8987	0.47038	0.0:1.0:0.0:0.0	.	111	A6NE09	.	E	111	ENSP00000417240:Q111E;ENSP00000346598:Q111E	ENSP00000346598:Q111E	Q	+	1	0	RPSAP58	23802134	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	4.812000	0.62613	1.477000	0.48234	0.627000	0.83407	CAG	.		0.567	RPSAP58-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000350238.1	NR_003662	
MFAP5	8076	hgsc.bcm.edu	37	12	8814663	8814663	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr12:8814663G>T	ENST00000359478.2	-	2	225	c.38C>A	c.(37-39)gCt>gAt	p.A13D	MFAP5_ENST00000543369.1_Missense_Mutation_p.A13D|RP11-20D14.3_ENST00000539089.1_RNA|MFAP5_ENST00000538107.1_5'UTR|MFAP5_ENST00000540087.1_Missense_Mutation_p.A13D|MFAP5_ENST00000396549.2_Missense_Mutation_p.A13D|MFAP5_ENST00000535336.1_Missense_Mutation_p.A13D|MFAP5_ENST00000433590.2_Missense_Mutation_p.A13D|RP11-20D14.3_ENST00000544922.1_RNA	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	13					extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					GATGAATGCAGCAAGAAACAG	0.502																																					p.A13D		.											MFAP5,NS,adenoma,0,1	MFAP5	0	0			c.C38A						.						132.0	116.0	121.0					12																	8814663		2203	4300	6503	SO:0001583	missense	8076	exon2			AATGCAGCAAGAA	AK124368	CCDS8595.1, CCDS73437.1	12p13.1-p12.3	2004-04-05				ENSG00000197614			29673	protein-coding gene	gene with protein product		601103				9792630, 8557636	Standard	XM_005253485		Approved	MAGP2, MP25	uc001qut.1	Q13361		ENST00000359478.2:c.38C>A	12.37:g.8814663G>T	ENSP00000352455:p.Ala13Asp	Somatic	33	0		WXS	Illumina HiSeq	.	31	2	NM_003480	B0AZL6|D3DUV1|Q7Z490	Missense_Mutation	SNP	ENST00000359478.2	37	CCDS8595.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.450|9.450	1.090291|1.090291	0.20390|0.20390	.|.	.|.	ENSG00000197614|ENSG00000197614	ENST00000359478;ENST00000433590;ENST00000396549;ENST00000543369;ENST00000535336;ENST00000540087;ENST00000544889|ENST00000535411	.|.	.|.	.|.	4.79|4.79	2.93|2.93	0.34026|0.34026	.|.	0.728143|.	0.12780|.	N|.	0.439727|.	T|T	0.24236|0.24236	0.0587|0.0587	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B;B|.	0.32010|.	0.351;0.351;0.351|.	B;B;B|.	0.37015|.	0.122;0.239;0.187|.	T|T	0.16689|0.16689	-1.0394|-1.0394	9|5	0.66056|.	D|.	0.02|.	-0.0188|-0.0188	6.0422|6.0422	0.19740|0.19740	0.2293:0.0:0.7707:0.0|0.2293:0.0:0.7707:0.0	.|.	13;13;13|.	B3KW70;Q13361;Q7Z490|.	.;MFAP5_HUMAN;.|.	D|M	13|3	.|.	ENSP00000352455:A13D|.	A|L	-|-	2|1	0|2	MFAP5|MFAP5	8705930|8705930	0.019000|0.019000	0.18553|0.18553	0.002000|0.002000	0.10522|0.10522	0.164000|0.164000	0.22412|0.22412	1.320000|1.320000	0.33666|0.33666	1.342000|1.342000	0.45619|0.45619	0.591000|0.591000	0.81541|0.81541	GCT|CTG	.		0.502	MFAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400656.2	NM_003480	
IFNGR1	3459	hgsc.bcm.edu	37	6	137525607	137525607	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr6:137525607C>A	ENST00000367739.4	-	4	529	c.408G>T	c.(406-408)aaG>aaT	p.K136N	IFNGR1_ENST00000543628.1_Missense_Mutation_p.K108N|IFNGR1_ENST00000367735.2_Missense_Mutation_p.K126N|IFNGR1_ENST00000478333.1_5'Flank	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	136					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	GCTTCTCCTCCTTTCTGATAT	0.388																																					p.K136N		.											IFNGR1,NS,carcinoma,0,1	IFNGR1	0	0			c.G408T						.						142.0	121.0	128.0					6																	137525607		2203	4300	6503	SO:0001583	missense	3459	exon4			CTCCTCCTTTCTG		CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.408G>T	6.37:g.137525607C>A	ENSP00000356713:p.Lys136Asn	Somatic	42	0		WXS	Illumina HiSeq	.	39	3	NM_000416	B4DFT7|E1P587|Q53Y96	Missense_Mutation	SNP	ENST00000367739.4	37	CCDS5185.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703930	0.48412	.	.	ENSG00000027697	ENST00000367739;ENST00000418947;ENST00000543628;ENST00000458076;ENST00000367735;ENST00000414770	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.51	-1.23	0.09465	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.836501	0.11157	N	0.593435	T	0.14056	0.0340	L	0.42245	1.32	0.09310	N	1	D;P;P	0.53462	0.96;0.823;0.845	B;P;B	0.44921	0.32;0.464;0.413	T	0.06935	-1.0799	10	0.45353	T	0.12	-2.4361	1.1023	0.01687	0.1499:0.3266:0.1464:0.3771	.	126;108;136	B4DFT7;F5H5M7;P15260	.;.;INGR1_HUMAN	N	136;136;108;102;126;126	ENSP00000356713:K136N;ENSP00000443282:K108N;ENSP00000389249:K102N;ENSP00000356709:K126N;ENSP00000394230:K126N	ENSP00000356709:K126N	K	-	3	2	IFNGR1	137567300	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.074000	0.03427	-0.252000	0.09528	-0.126000	0.14955	AAG	.		0.388	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1		
CACNA1E	777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	181701852	181701852	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr1:181701852G>A	ENST00000367573.2	+	20	2630	c.2630G>A	c.(2629-2631)gGc>gAc	p.G877D	CACNA1E_ENST00000367567.4_Missense_Mutation_p.G484D|CACNA1E_ENST00000526775.1_Missense_Mutation_p.G858D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G858D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G828D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G809D|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G877D	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	877					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTGTCCCTGGGCCAGCGGGAG	0.652																																					p.G877D		.											.	.	.	0			c.G2630A						.						19.0	23.0	22.0					1																	181701852		1987	4166	6153	SO:0001583	missense	777	exon20			CCCTGGGCCAGCG	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2630G>A	1.37:g.181701852G>A	ENSP00000356545:p.Gly877Asp	Somatic	39	0		WXS	Illumina HiSeq	.	62	20	NM_001205293	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	9.823	1.186255	0.21870	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96041	-3.82;-3.84;-3.82;-3.84;-3.89;-3.84;-3.82	4.14	4.14	0.48551	.	0.577167	0.19397	N	0.115268	D	0.89248	0.6661	N	0.08118	0	0.35691	D	0.814861	P;P;P	0.44877	0.739;0.845;0.739	B;B;B	0.42087	0.375;0.368;0.375	D	0.90924	0.4785	10	0.33141	T	0.24	.	13.9441	0.64073	0.0:0.1538:0.8462:0.0	.	858;877;877	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	D	877;858;828;809;484;858;877	ENSP00000356542:G877D;ENSP00000434814:G858D;ENSP00000350183:G828D;ENSP00000351101:G809D;ENSP00000356539:G484D;ENSP00000353222:G858D;ENSP00000356545:G877D	ENSP00000350183:G828D	G	+	2	0	CACNA1E	179968475	0.713000	0.27926	1.000000	0.80357	0.568000	0.35870	3.098000	0.50259	2.596000	0.87737	0.561000	0.74099	GGC	.		0.652	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
FZD1	8321	hgsc.bcm.edu	37	7	90896134	90896134	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr7:90896134G>T	ENST00000287934.2	+	1	2352	c.1939G>T	c.(1939-1941)Gtc>Ttc	p.V647F		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	647					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GGAGACTACAGTCTGAGACCC	0.632																																					p.V647F		.											FZD1,bladder,carcinoma,-2,1	FZD1	-2	0			c.G1939T						.						40.0	43.0	42.0					7																	90896134		2202	4296	6498	SO:0001583	missense	8321	exon1			ACTACAGTCTGAG	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1939G>T	7.37:g.90896134G>T	ENSP00000287934:p.Val647Phe	Somatic	56	0		WXS	Illumina HiSeq	.	37	2	NM_003505	A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672047	0.47781	.	.	ENSG00000157240	ENST00000287934	T	0.80566	-1.39	4.89	3.03	0.35002	.	0.185056	0.25546	N	0.029934	D	0.87849	0.6281	M	0.77616	2.38	0.52099	D	0.999941	D	0.89917	1.0	D	0.79784	0.993	D	0.87487	0.2424	10	0.87932	D	0	.	10.1329	0.42689	0.0721:0.0:0.7912:0.1367	.	647	Q9UP38	FZD1_HUMAN	F	647	ENSP00000287934:V647F	ENSP00000287934:V647F	V	+	1	0	FZD1	90734070	1.000000	0.71417	0.997000	0.53966	0.359000	0.29487	7.762000	0.85270	0.731000	0.32448	0.561000	0.74099	GTC	.		0.632	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505	
MPDZ	8777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	13168539	13168539	+	Missense_Mutation	SNP	T	T	C	rs372981122		TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr9:13168539T>C	ENST00000319217.7	-	22	3327	c.3080A>G	c.(3079-3081)gAt>gGt	p.D1027G	MPDZ_ENST00000546205.1_Missense_Mutation_p.D1027G|MPDZ_ENST00000536827.1_Missense_Mutation_p.D1027G|MPDZ_ENST00000381022.2_Missense_Mutation_p.D1027G|MPDZ_ENST00000381015.4_Missense_Mutation_p.D1027G|MPDZ_ENST00000447879.1_Missense_Mutation_p.D1027G|MPDZ_ENST00000541718.1_Missense_Mutation_p.D1027G	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1027	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CCCCAAGCCATCTTTATTAGC	0.353																																					p.D1027G		.											.	.	.	0			c.A3080G						.						179.0	169.0	172.0					9																	13168539		1889	4107	5996	SO:0001583	missense	8777	exon22			AAGCCATCTTTAT	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.3080A>G	9.37:g.13168539T>C	ENSP00000320006:p.Asp1027Gly	Somatic	50	0		WXS	Illumina HiSeq	.	54	11	NM_003829	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	T	21.3	4.129893	0.77549	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.36	4.14	0.48551	.	0.000000	0.44902	D	0.000408	T	0.50343	0.1610	L	0.39898	1.24	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72338	0.977;0.96;0.96	T	0.36261	-0.9755	10	0.24483	T	0.36	.	11.4619	0.50215	0.1346:0.0:0.0:0.8654	.	1027;1027;1027	B7ZMI4;O75970-3;O75970-2	.;.;.	G	1027;1027;1027;33;1027;1027;1027;977;1027	ENSP00000320006:D1027G;ENSP00000439807:D1027G;ENSP00000370410:D1027G;ENSP00000444230:D33G;ENSP00000444151:D1027G;ENSP00000415208:D1027G;ENSP00000370403:D1027G;ENSP00000446358:D1027G	ENSP00000320006:D1027G	D	-	2	0	MPDZ	13158539	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.853000	0.69496	2.146000	0.66826	0.533000	0.62120	GAT	.		0.353	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829	
CYP46A1	10858	hgsc.bcm.edu	37	14	100158142	100158142	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr14:100158142C>T	ENST00000261835.3	+	3	330	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	CYP46A1_ENST00000423126.2_5'UTR|RP11-543C4.3_ENST00000555875.1_lincRNA	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	76					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				ACCTGTTGTGCGGGTCAACGT	0.532																																					p.R76W		.											CYP46A1,NS,carcinoma,0,1	CYP46A1	0	0			c.C226T						.						209.0	181.0	191.0					14																	100158142		2203	4300	6503	SO:0001583	missense	10858	exon3			GTTGTGCGGGTCA	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.226C>T	14.37:g.100158142C>T	ENSP00000261835:p.Arg76Trp	Somatic	63	0		WXS	Illumina HiSeq	.	51	3	NM_006668	B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	ENST00000261835.3	37	CCDS9954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.39|15.39	2.820824|2.820824	0.50633|0.50633	.|.	.|.	ENSG00000036530|ENSG00000036530	ENST00000380228|ENST00000261835	.|T	.|0.70986	.|-0.53	4.32|4.32	3.4|3.4	0.38934|0.38934	.|.	.|0.056381	.|0.64402	.|D	.|0.000002	T|T	0.66247|0.66247	0.2770|0.2770	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|D	.|0.53619	.|0.961	.|B	.|0.43623	.|0.425	T|T	0.67417|0.67417	-0.5676|-0.5676	5|10	.|0.51188	.|T	.|0.08	.|.	9.2366|9.2366	0.37470|0.37470	0.2256:0.7743:0.0:0.0|0.2256:0.7743:0.0:0.0	.|.	.|76	.|Q9Y6A2	.|CP46A_HUMAN	V|W	62|76	.|ENSP00000261835:R76W	.|ENSP00000261835:R76W	A|R	+|+	2|1	0|2	CYP46A1|CYP46A1	99227895|99227895	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.939000|0.939000	0.58152|0.58152	2.366000|2.366000	0.44204|0.44204	1.114000|1.114000	0.41781|0.41781	0.563000|0.563000	0.77884|0.77884	GCG|CGG	.		0.532	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1		
PIGS	94005	hgsc.bcm.edu	37	17	26898495	26898495	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr17:26898495G>A	ENST00000308360.7	-	1	395	c.20C>T	c.(19-21)gCg>gTg	p.A7V	RP11-192H23.5_ENST00000585189.1_RNA|PIGS_ENST00000543734.1_5'UTR|PIGS_ENST00000395346.2_5'UTR	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	7					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GTGTGTAGCCGCAGCCCCGGC	0.672																																					p.A7V		.											.	.	.	0			c.C20T						.						7.0	10.0	9.0					17																	26898495		2114	4181	6295	SO:0001583	missense	94005	exon1			GTAGCCGCAGCCC		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.20C>T	17.37:g.26898495G>A	ENSP00000309430:p.Ala7Val	Somatic	73	0		WXS	Illumina HiSeq	.	89	4	NM_033198	Q6UVX6	Missense_Mutation	SNP	ENST00000308360.7	37	CCDS11235.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779686	0.31502	.	.	ENSG00000087111	ENST00000308360	T	0.46819	0.86	4.17	2.11	0.27256	.	0.735850	0.13461	N	0.386154	T	0.26448	0.0646	N	0.14661	0.345	0.21290	N	0.999736	B	0.23806	0.091	B	0.14023	0.01	T	0.15780	-1.0425	10	0.56958	D	0.05	-1.382	4.9766	0.14144	0.108:0.0:0.685:0.207	.	7	Q96S52	PIGS_HUMAN	V	7	ENSP00000309430:A7V	ENSP00000309430:A7V	A	-	2	0	PIGS	23922622	0.006000	0.16342	0.001000	0.08648	0.201000	0.24016	0.883000	0.28200	0.668000	0.31126	0.462000	0.41574	GCG	.		0.672	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198	
MYH15	22989	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	108147371	108147371	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr3:108147371G>T	ENST00000273353.3	-	28	3786	c.3730C>A	c.(3730-3732)Ctg>Atg	p.L1244M		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1244						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ACACGGGTCAGGAGGTCATCT	0.512																																					p.L1244M		.											.	.	.	0			c.C3730A						.						239.0	223.0	228.0					3																	108147371		1942	4150	6092	SO:0001583	missense	22989	exon28			GGGTCAGGAGGTC	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.3730C>A	3.37:g.108147371G>T	ENSP00000273353:p.Leu1244Met	Somatic	44	0		WXS	Illumina HiSeq	.	42	4	NM_014981		Missense_Mutation	SNP	ENST00000273353.3	37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.418869	0.42918	.	.	ENSG00000144821	ENST00000273353	D	0.88201	-2.35	5.58	0.102	0.14522	Myosin tail (1);	.	.	.	.	D	0.88032	0.6328	L	0.43152	1.355	0.09310	N	1	D	0.55385	0.971	P	0.62491	0.903	T	0.76176	-0.3055	9	0.49607	T	0.09	.	1.5275	0.02528	0.2045:0.1194:0.1919:0.4842	.	1244	Q9Y2K3	MYH15_HUMAN	M	1244	ENSP00000273353:L1244M	ENSP00000273353:L1244M	L	-	1	2	MYH15	109630061	0.002000	0.14202	0.001000	0.08648	0.832000	0.47134	0.060000	0.14342	0.075000	0.16796	0.650000	0.86243	CTG	.		0.512	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988	
ABCA6	23460	hgsc.bcm.edu;bcgsc.ca	37	17	67080420	67080420	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr17:67080420G>A	ENST00000284425.2	-	34	4511	c.4337C>T	c.(4336-4338)aCa>aTa	p.T1446I	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1446	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CTGCTGCCCTGTGGGGTCTAT	0.498																																					p.T1446I		.											.	.	.	0			c.C4337T						.						90.0	86.0	88.0					17																	67080420		2203	4300	6503	SO:0001583	missense	23460	exon34			TGCCCTGTGGGGT	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4337C>T	17.37:g.67080420G>A	ENSP00000284425:p.Thr1446Ile	Somatic	34	0		WXS	Illumina HiSeq	.	26	4	NM_080284	Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	G	8.324	0.825053	0.16678	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	T	0.59906	0.23	5.04	1.72	0.24424	ATPase, AAA+ type, core (1);ABC transporter-like (1);	1.146790	0.06584	N	0.750833	T	0.25754	0.0627	N	0.00873	-1.125	0.21290	N	0.999735	B	0.17465	0.022	B	0.22880	0.042	T	0.18871	-1.0323	10	0.49607	T	0.09	.	3.1359	0.06438	0.0923:0.1227:0.4851:0.2999	.	1446	Q8N139	ABCA6_HUMAN	I	1446;306	ENSP00000284425:T1446I	ENSP00000284425:T1446I	T	-	2	0	ABCA6	64592015	0.008000	0.16893	0.002000	0.10522	0.383000	0.30230	1.776000	0.38594	0.705000	0.31890	-0.291000	0.09656	ACA	.		0.498	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	
C11orf52	91894	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	111796803	111796803	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr11:111796803C>A	ENST00000278601.5	+	4	348	c.252C>A	c.(250-252)tgC>tgA	p.C84*	HSPB2-C11orf52_ENST00000534100.1_3'UTR|DIXDC1_ENST00000529225.1_5'Flank|C11orf52_ENST00000527286.1_3'UTR|RNA5SP351_ENST00000459480.1_RNA|CRYAB_ENST00000527950.1_5'Flank	NM_080659.2	NP_542390.2	Q96A22	CK052_HUMAN	chromosome 11 open reading frame 52	84						extracellular vesicular exosome (GO:0070062)				lung(2)|ovary(1)	3		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		TTCAAGTGTGCAGCCGTCCCC	0.527																																					p.C84X		.											.	.	.	0			c.C252A						.						121.0	89.0	100.0					11																	111796803		2201	4297	6498	SO:0001587	stop_gained	91894	exon4			AGTGTGCAGCCGT	AK057948	CCDS8353.1	11q23.1	2006-02-06	2006-02-06		ENSG00000149300	ENSG00000149300			30531	protein-coding gene	gene with protein product							Standard	NM_080659		Approved	MGC14839, FLJ25219		Q96A22	OTTHUMG00000166888	ENST00000278601.5:c.252C>A	11.37:g.111796803C>A	ENSP00000278601:p.Cys84*	Somatic	25	0		WXS	Illumina HiSeq	.	25	5	NM_080659		Nonsense_Mutation	SNP	ENST00000278601.5	37	CCDS8353.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219535	0.58560	.	.	ENSG00000149300	ENST00000278601	.	.	.	4.72	4.72	0.59763	.	1.051630	0.07409	N	0.892119	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	0.2091	14.5173	0.67827	0.0:1.0:0.0:0.0	.	.	.	.	X	84	.	ENSP00000278601:C84X	C	+	3	2	C11orf52	111302013	0.996000	0.38824	0.307000	0.25127	0.648000	0.38561	4.034000	0.57289	2.449000	0.82847	0.561000	0.74099	TGC	.		0.527	C11orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391673.1	NM_080659	
ERMARD	55780	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	170179308	170179308	+	Silent	SNP	G	G	C			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr6:170179308G>C	ENST00000366773.3	+	17	1803	c.1770G>C	c.(1768-1770)ctG>ctC	p.L590L	ERMARD_ENST00000366772.2_Silent_p.L543L|ERMARD_ENST00000392095.4_Silent_p.L464L|ERMARD_ENST00000418781.3_Silent_p.L517L|ERMARD_ENST00000588451.1_Silent_p.L454L	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	590					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.L590L(1)									TGCTCAGCCTGATACTGTTAC	0.398																																					p.L590L		.											C6orf70,NS,carcinoma,0,1	C6orf70	0	1	Substitution - coding silent(1)	lung(1)	c.G1770C						.						217.0	177.0	191.0					6																	170179308		2203	4300	6503	SO:0001819	synonymous_variant	55780	exon17			CAGCCTGATACTG	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1770G>C	6.37:g.170179308G>C		Somatic	40	0		WXS	Illumina HiSeq	.	19	5	NM_018341	B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Silent	SNP	ENST00000366773.3	37	CCDS34576.1																																																																																			.		0.398	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341	
JMJD7	100137047	hgsc.bcm.edu	37	15	42129066	42129066	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr15:42129066C>T	ENST00000397299.4	+	7	830	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	JMJD7-PLA2G4B_ENST00000476036.1_Intron|PLA2G4B_ENST00000458483.1_5'Flank|JMJD7_ENST00000408047.1_Missense_Mutation_p.R165W|PLA2G4B_ENST00000452633.1_5'Flank|PLA2G4B_ENST00000542534.2_Intron|JMJD7-PLA2G4B_ENST00000342159.4_Intron|JMJD7-PLA2G4B_ENST00000382448.4_Intron	NM_001114632.1	NP_001108104.1	P0C870	JMJD7_HUMAN	jumonji domain containing 7	264	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.									NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	8						CTGCACGGTGCGGGCCGGTGA	0.652																																					p.R264W		.											JMJD7-PLA2G4B_ENST00000542534,NS,carcinoma,0,2	JMJD7-PLA2G4B_ENST00000542534	0	0			c.C790T						.						30.0	30.0	30.0					15																	42129066		1568	3582	5150	SO:0001583	missense	100137047	exon7			ACGGTGCGGGCCG		CCDS45240.1	15q15.1	2011-02-10			ENSG00000243789	ENSG00000243789			34397	protein-coding gene	gene with protein product							Standard	NM_001114632		Approved			P0C870	OTTHUMG00000156810	ENST00000397299.4:c.790C>T	15.37:g.42129066C>T	ENSP00000380467:p.Arg264Trp	Somatic	44	0		WXS	Illumina HiSeq	.	40	2	NM_001114632	A5D6V5|O95712|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000397299.4	37	CCDS45240.1	.	.	.	.	.	.	.	.	.	.	.	14.10	2.434650	0.43224	.	.	ENSG00000243789;ENSG00000243789;ENSG00000243789;ENSG00000168970;ENSG00000168970	ENST00000397299;ENST00000408047;ENST00000405106;ENST00000542534;ENST00000335032	T;T;T	0.72167	-0.63;2.73;-0.63	4.98	2.94	0.34122	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	.	.	.	.	T	0.75810	0.3900	M	0.75264	2.295	0.28046	N	0.933537	D	0.55605	0.972	P	0.49597	0.616	T	0.70204	-0.4936	9	0.72032	D	0.01	.	12.2254	0.54457	0.4471:0.5529:0.0:0.0	.	264	P0C870	JMJD7_HUMAN	W	264;165;165;264;184	ENSP00000380467:R264W;ENSP00000384174:R165W;ENSP00000441905:R264W	ENSP00000380467:R264W	R	+	1	2	JMJD7-PLA2G4B;JMJD7	39916358	0.997000	0.39634	0.931000	0.37212	0.061000	0.15899	1.930000	0.40124	1.202000	0.43218	-0.182000	0.12963	CGG	.		0.652	JMJD7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326082.1	NM_001114632	
DNAAF2	55172	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	50092315	50092315	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr14:50092315T>G	ENST00000298292.8	-	3	2539	c.2459A>C	c.(2458-2460)cAt>cCt	p.H820P	RP11-649E7.5_ENST00000555043.1_RNA|DNAAF2_ENST00000406043.3_Missense_Mutation_p.H772P	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	820					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						ATTGGTCACATGATCTTTAAT	0.313																																					p.H820P		.											.	.	.	0			c.A2459C						.						134.0	124.0	127.0					14																	50092315		2202	4300	6502	SO:0001583	missense	55172	exon3			GTCACATGATCTT	AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"""kintoun"""	612517	"""chromosome 14 open reading frame 104"""	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.2459A>C	14.37:g.50092315T>G	ENSP00000298292:p.His820Pro	Somatic	77	0		WXS	Illumina HiSeq	.	84	14	NM_018139	B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Missense_Mutation	SNP	ENST00000298292.8	37	CCDS9691.2	.	.	.	.	.	.	.	.	.	.	T	17.57	3.422446	0.62622	.	.	ENSG00000165506	ENST00000298292;ENST00000406043	T;T	0.15952	2.38;2.38	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.41673	0.1169	M	0.68952	2.095	0.48236	D	0.999614	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.26121	-1.0112	10	0.87932	D	0	.	15.3571	0.74434	0.0:0.0:0.0:1.0	.	772;820	Q9NVR5-2;Q9NVR5	.;KTU_HUMAN	P	820;772	ENSP00000298292:H820P;ENSP00000384862:H772P	ENSP00000298292:H820P	H	-	2	0	DNAAF2	49162065	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	5.549000	0.67261	2.265000	0.75225	0.451000	0.29950	CAT	.		0.313	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1		
ZNF415	55786	hgsc.bcm.edu	37	19	53612346	53612346	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr19:53612346G>T	ENST00000500065.4	-	4	1285	c.952C>A	c.(952-954)Cat>Aat	p.H318N	ZNF415_ENST00000243643.4_Missense_Mutation_p.H318N|ZNF415_ENST00000440291.1_Missense_Mutation_p.H305N|ZNF415_ENST00000455735.2_Missense_Mutation_p.H366N|ZNF415_ENST00000448501.1_Missense_Mutation_p.H366N|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000601493.1_Missense_Mutation_p.H88N|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.H330N|ZNF415_ENST00000594011.1_3'UTR	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	366					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H318N(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		GTTTTCTGATGTAGTGCAAGG	0.418																																					p.H318N		.											ZNF415,NS,carcinoma,0,1	ZNF415	0	1	Substitution - Missense(1)	lung(1)	c.C952A						.						91.0	84.0	86.0					19																	53612346		2203	4300	6503	SO:0001583	missense	55786	exon4			TCTGATGTAGTGC	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.952C>A	19.37:g.53612346G>T	ENSP00000439435:p.His318Asn	Somatic	36	0		WXS	Illumina HiSeq	.	37	2	NM_018355	F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	ENST00000500065.4	37	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343594	0.41498	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	D;D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18;-2.18	2.59	2.59	0.31030	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95357	0.8493	H	0.96604	3.85	0.09310	N	1	D;D;D;D;D;D	0.76494	0.998;0.998;0.998;0.96;0.998;0.999	P;D;D;D;D;D	0.91635	0.895;0.999;0.936;0.938;0.946;0.998	D	0.87421	0.2382	9	0.87932	D	0	.	12.3152	0.54951	0.0:0.0:1.0:0.0	.	318;366;366;318;305;330	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	N	318;318;366;330;366;305	ENSP00000243643:H318N;ENSP00000439435:H318N;ENSP00000396492:H366N;ENSP00000395055:H330N;ENSP00000388787:H366N;ENSP00000414601:H305N	ENSP00000243643:H318N	H	-	1	0	ZNF415	58304158	1.000000	0.71417	0.006000	0.13384	0.007000	0.05969	4.240000	0.58701	1.460000	0.47911	0.491000	0.48974	CAT	.		0.418	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355	
CDH20	28316	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	59174732	59174732	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr18:59174732C>A	ENST00000262717.4	+	6	1354	c.956C>A	c.(955-957)gCa>gAa	p.A319E	CDH20_ENST00000536675.2_Missense_Mutation_p.A319E|CDH20_ENST00000538374.1_Missense_Mutation_p.A319E			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	319	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GGAGATGGTGCAGATGCCTTT	0.433																																					p.A319E		.											.	.	.	0			c.C956A						.						180.0	152.0	162.0					18																	59174732		2203	4300	6503	SO:0001583	missense	28316	exon5			ATGGTGCAGATGC	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.956C>A	18.37:g.59174732C>A	ENSP00000262717:p.Ala319Glu	Somatic	39	0		WXS	Illumina HiSeq	.	37	9	NM_031891	Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900675	0.33535	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.50813	0.73;0.73;0.73	5.76	4.78	0.61160	Cadherin (4);Cadherin-like (1);	0.289069	0.34507	N	0.003910	T	0.32315	0.0825	L	0.39566	1.225	0.31655	N	0.64631	B	0.16802	0.019	B	0.25759	0.063	T	0.25745	-1.0123	10	0.14252	T	0.57	.	3.7716	0.08643	0.0:0.6701:0.0:0.3299	.	319	Q9HBT6	CAD20_HUMAN	E	319	ENSP00000444767:A319E;ENSP00000442226:A319E;ENSP00000262717:A319E	ENSP00000262717:A319E	A	+	2	0	CDH20	57325712	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	2.742000	0.47434	2.719000	0.93026	0.555000	0.69702	GCA	.		0.433	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891	
PCDHA5	56143	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	140202795	140202795	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr5:140202795C>T	ENST00000529859.1	+	1	1435	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	PCDHA5_ENST00000529619.1_Missense_Mutation_p.R479W|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R479W|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	479	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGTCTGCACGGGACGCGGA	0.662																																					p.R479W		.											.	.	.	0			c.C1435T						.						74.0	79.0	77.0					5																	140202795		2203	4300	6503	SO:0001583	missense	56143	exon1			TCTGCACGGGACG	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1435C>T	5.37:g.140202795C>T	ENSP00000436557:p.Arg479Trp	Somatic	99	0		WXS	Illumina HiSeq	.	90	17	NM_018908	O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	C	1.786	-0.480692	0.04383	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.52983	0.64;0.64;0.64	3.86	-1.6	0.08426	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.30792	0.0776	L	0.39326	1.205	0.09310	N	1	B;B;B	0.22746	0.024;0.074;0.017	B;B;B	0.23275	0.045;0.009;0.008	T	0.24119	-1.0169	9	0.34782	T	0.22	.	1.5823	0.02637	0.1359:0.3272:0.1347:0.4021	.	479;479;479	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	W	479	ENSP00000433416:R479W;ENSP00000436557:R479W;ENSP00000367366:R479W	ENSP00000367366:R479W	R	+	1	2	PCDHA5	140182979	0.000000	0.05858	0.008000	0.14137	0.233000	0.25261	-3.722000	0.00383	-0.377000	0.07930	-0.677000	0.03784	CGG	.		0.662	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908	
URB2	9816	hgsc.bcm.edu	37	1	229779333	229779333	+	Silent	SNP	T	T	C			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr1:229779333T>C	ENST00000258243.2	+	5	3824	c.3688T>C	c.(3688-3690)Ttg>Ctg	p.L1230L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1230						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.L1230V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TTTGGGAGCCTTGTTCACCCA	0.453																																					p.L1230L		.											URB2,colon,carcinoma,0,1	URB2	0	1	Substitution - Missense(1)	large_intestine(1)	c.T3688C						.						161.0	151.0	154.0					1																	229779333		2203	4300	6503	SO:0001819	synonymous_variant	9816	exon5			GGAGCCTTGTTCA	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.3688T>C	1.37:g.229779333T>C		Somatic	41	0		WXS	Illumina HiSeq	.	39	2	NM_014777	Q5VYC9	Silent	SNP	ENST00000258243.2	37	CCDS31052.1																																																																																			.		0.453	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777	
SMG6	23293	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	1972077	1972077	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr17:1972077A>C	ENST00000263073.6	-	16	3880	c.3830T>G	c.(3829-3831)cTc>cGc	p.L1277R	SMG6_ENST00000536871.2_Missense_Mutation_p.L369R|SMG6_ENST00000354901.4_Missense_Mutation_p.L369R|SMG6_ENST00000573166.1_5'UTR|SMG6_ENST00000544865.1_Missense_Mutation_p.L1246R	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1277	PINc.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTCACCGATGAGGGGCACCAC	0.652																																					p.L1277R	Melanoma(59;28 1088 11621 25887 46638 50814)	.											.	.	.	0			c.T3830G						.						71.0	61.0	64.0					17																	1972077		2203	4300	6503	SO:0001583	missense	23293	exon16			CCGATGAGGGGCA	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.3830T>G	17.37:g.1972077A>C	ENSP00000263073:p.Leu1277Arg	Somatic	17	0		WXS	Illumina HiSeq	.	22	6	NM_017575	B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.061263	0.76187	.	.	ENSG00000070366	ENST00000263073;ENST00000544865;ENST00000354901;ENST00000536871	T;T;T;T	0.29397	2.6;2.6;1.57;1.79	6.08	6.08	0.98989	Nucleotide binding protein, PINc (1);	0.000000	0.64402	D	0.000004	T	0.51924	0.1703	L	0.56280	1.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.44483	-0.9325	10	0.41790	T	0.15	-6.1018	16.6438	0.85155	1.0:0.0:0.0:0.0	.	1277	Q86US8	EST1A_HUMAN	R	1277;1246;188;369	ENSP00000263073:L1277R;ENSP00000443920:L1246R;ENSP00000346977:L188R;ENSP00000440283:L369R	ENSP00000263073:L1277R	L	-	2	0	SMG6	1918827	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.603000	0.90871	2.333000	0.79357	0.533000	0.62120	CTC	.		0.652	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3		
USP9X	8239	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	41043819	41043819	+	Missense_Mutation	SNP	A	A	G	rs377036436		TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chrX:41043819A>G	ENST00000324545.8	+	23	4082	c.3449A>G	c.(3448-3450)aAt>aGt	p.N1150S	USP9X_ENST00000378308.2_Missense_Mutation_p.N1150S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1150					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GCCTACCTCAATGCTCTTAAA	0.468																																					p.N1150S	Ovarian(172;1807 2695 35459 49286)	.											.	.	.	0			c.A3449G						.	A	SER/ASN,SER/ASN	1,3774		0,1,1601,571	100.0	92.0	94.0		3449,3449	5.7	1.0	X		94	0,6698		0,0,2417,1864	no	missense,missense	USP9X	NM_001039591.2,NM_001039590.2	46,46	0,1,4018,2435	GG,GA,AA,A		0.0,0.0265,0.0095	benign,benign	1150/2555,1150/2571	41043819	1,10472	2173	4281	6454	SO:0001583	missense	8239	exon23			ACCTCAATGCTCT	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.3449A>G	X.37:g.41043819A>G	ENSP00000316357:p.Asn1150Ser	Somatic	28	0		WXS	Illumina HiSeq	.	34	10	NM_001039591	O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.469914	0.26423	2.65E-4	0.0	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.16196	2.36;2.36	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.07548	0.0190	N	0.03608	-0.345	0.50467	D	0.999876	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15983	-1.0418	10	0.06365	T	0.9	.	14.8463	0.70261	1.0:0.0:0.0:0.0	.	1150;1150	Q93008-1;Q93008	.;USP9X_HUMAN	S	1150	ENSP00000367558:N1150S;ENSP00000316357:N1150S	ENSP00000316357:N1150S	N	+	2	0	USP9X	40928763	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.032000	0.70918	1.887000	0.54652	0.417000	0.27973	AAT	.		0.468	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652	
MFSD1	64747	hgsc.bcm.edu	37	3	158538046	158538046	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr3:158538046C>T	ENST00000264266.8	+	9	856	c.794C>T	c.(793-795)cCc>cTc	p.P265L	MFSD1_ENST00000392813.4_Missense_Mutation_p.P275L|MFSD1_ENST00000415822.2_Missense_Mutation_p.P314L			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	265					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTCTCCTTACCCCTGTGGCTT	0.358																																					p.P314L	Pancreas(62;1186 1654 36636 37908)	.											.	.	.	0			c.C941T						.						208.0	188.0	195.0					3																	158538046		2203	4298	6501	SO:0001583	missense	64747	exon9			CCTTACCCCTGTG	BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835	ENST00000264266.8:c.794C>T	3.37:g.158538046C>T	ENSP00000264266:p.Pro265Leu	Somatic	89	0		WXS	Illumina HiSeq	.	78	3	NM_022736	B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Missense_Mutation	SNP	ENST00000264266.8	37		.	.	.	.	.	.	.	.	.	.	C	17.64	3.440433	0.63067	.	.	ENSG00000118855	ENST00000415822;ENST00000392813;ENST00000264266;ENST00000361159;ENST00000477743	T;T;T;T	0.80480	0.28;0.28;0.28;-1.38	5.23	5.23	0.72850	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.470298	0.23596	N	0.046492	T	0.75034	0.3795	L	0.27053	0.805	0.58432	D	0.999993	B;B	0.29805	0.131;0.257	B;B	0.36030	0.145;0.216	T	0.70960	-0.4730	10	0.28530	T	0.3	.	18.8419	0.92188	0.0:1.0:0.0:0.0	.	275;265	C9JS94;Q9H3U5	.;MFSD1_HUMAN	L	314;275;265;189;99	ENSP00000403117:P314L;ENSP00000376560:P275L;ENSP00000264266:P265L;ENSP00000417163:P99L	ENSP00000264266:P265L	P	+	2	0	MFSD1	160020740	0.907000	0.30839	0.998000	0.56505	0.998000	0.95712	5.746000	0.68681	2.451000	0.82905	0.650000	0.86243	CCC	.		0.358	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1	NM_022736	
CLIP4	79745	hgsc.bcm.edu;bcgsc.ca	37	2	29397281	29397281	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr2:29397281A>G	ENST00000320081.5	+	15	2021	c.1766A>G	c.(1765-1767)aAg>aGg	p.K589R	CLIP4_ENST00000401605.1_Missense_Mutation_p.K589R|CLIP4_ENST00000401617.2_Missense_Mutation_p.K482R|CLIP4_ENST00000404424.1_Missense_Mutation_p.K589R	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	589										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TCTTCCCAAAAGGAGATTAAC	0.328																																					p.K589R		.											.	.	.	0			c.A1766G						.						91.0	93.0	92.0					2																	29397281		2203	4300	6503	SO:0001583	missense	79745	exon15			CCCAAAAGGAGAT	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.1766A>G	2.37:g.29397281A>G	ENSP00000327009:p.Lys589Arg	Somatic	102	0		WXS	Illumina HiSeq	.	90	4	NM_024692	A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	ENST00000320081.5	37	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.907603	0.33721	.	.	ENSG00000115295	ENST00000401605;ENST00000401617;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000530644	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.85	4.7	0.59300	Cytoskeleton-associated protein, Gly-rich domain (1);	0.400694	0.29980	N	0.010708	T	0.27454	0.0674	N	0.14661	0.345	0.29751	N	0.836312	B	0.12630	0.006	B	0.09377	0.004	T	0.16958	-1.0385	10	0.20519	T	0.43	.	8.6424	0.33985	0.8464:0.0:0.1536:0.0	.	589	Q8N3C7	CLIP4_HUMAN	R	589;482;589;591;589;607;549	ENSP00000384242:K589R;ENSP00000385148:K482R;ENSP00000385594:K589R;ENSP00000327009:K589R	ENSP00000327009:K589R	K	+	2	0	CLIP4	29250785	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.393000	0.59665	1.041000	0.40125	0.533000	0.62120	AAG	.		0.328	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692	
FAM111B	374393	hgsc.bcm.edu	37	11	58891964	58891964	+	Missense_Mutation	SNP	T	T	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr11:58891964T>A	ENST00000343597.3	+	4	585	c.394T>A	c.(394-396)Tat>Aat	p.Y132N	FAM111B_ENST00000529618.1_Missense_Mutation_p.Y102N|FAM111B_ENST00000411426.1_Missense_Mutation_p.Y102N	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	132							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						CATTATTGTTTATGAAGAAAA	0.343																																					p.Y132N		.											.,2	.	84	0			c.T394A						.						49.0	50.0	50.0					11																	58891964		2201	4294	6495	SO:0001583	missense	374393	exon4			ATTGTTTATGAAG	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.394T>A	11.37:g.58891964T>A	ENSP00000341565:p.Tyr132Asn	Somatic	45	1		WXS	Illumina HiSeq	.	48	2	NM_198947	B4E2G2|Q6P661	Missense_Mutation	SNP	ENST00000343597.3	37	CCDS7972.1	.	.	.	.	.	.	.	.	.	.	T	11.33	1.607533	0.28623	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000534403;ENST00000343597	T;T;T	0.33654	1.4;1.4;1.4	4.15	0.286	0.15710	.	0.674579	0.12305	U	0.480758	T	0.25494	0.0620	L	0.57536	1.79	0.09310	N	1	P	0.46512	0.879	B	0.38500	0.275	T	0.14227	-1.0480	10	0.29301	T	0.29	.	1.8022	0.03073	0.1655:0.0949:0.172:0.5675	.	132	Q6SJ93	F111B_HUMAN	N	102;102;102;132	ENSP00000393855:Y102N;ENSP00000432875:Y102N;ENSP00000341565:Y132N	ENSP00000341565:Y132N	Y	+	1	0	FAM111B	58648540	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.094000	0.15107	-0.049000	0.13379	0.533000	0.62120	TAT	.		0.343	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947	
STK31	56164	hgsc.bcm.edu	37	7	23826512	23826512	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr7:23826512C>T	ENST00000355870.3	+	20	2575	c.2456C>T	c.(2455-2457)gCt>gTt	p.A819V	STK31_ENST00000354639.3_Missense_Mutation_p.A796V|STK31_ENST00000428484.1_Missense_Mutation_p.A796V|STK31_ENST00000433467.2_Missense_Mutation_p.A819V|STK31_ENST00000405627.3_3'UTR	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	819	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AACCTGAATGCTGTTCAAGCC	0.358																																					p.A819V		.											STK31,NS,carcinoma,0,1	STK31	0	0			c.C2456T						.						180.0	165.0	170.0					7																	23826512		2203	4300	6503	SO:0001583	missense	56164	exon20			TGAATGCTGTTCA	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2456C>T	7.37:g.23826512C>T	ENSP00000348132:p.Ala819Val	Somatic	57	0		WXS	Illumina HiSeq	.	49	2	NM_031414	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	C	7.064	0.566893	0.13560	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.74106	-0.81;2.1;-0.81;-0.81	5.28	2.49	0.30216	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.332630	0.30177	N	0.010233	T	0.62036	0.2395	L	0.38953	1.18	0.09310	N	0.999991	B;B	0.24258	0.1;0.002	B;B	0.26094	0.066;0.009	T	0.52961	-0.8505	10	0.40728	T	0.16	-1.3412	8.6047	0.33767	0.0:0.6857:0.0:0.3143	.	819;819	B4DZ06;Q9BXU1	.;STK31_HUMAN	V	819;819;796;796	ENSP00000348132:A819V;ENSP00000411852:A819V;ENSP00000346660:A796V;ENSP00000406146:A796V	ENSP00000346660:A796V	A	+	2	0	STK31	23793037	0.842000	0.29525	0.203000	0.23512	0.074000	0.17049	1.479000	0.35453	0.622000	0.30249	0.585000	0.79938	GCT	.		0.358	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414	
CCT8L2	150160	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	17072592	17072592	+	Silent	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr22:17072592G>T	ENST00000359963.3	-	1	1108	c.849C>A	c.(847-849)ggC>ggA	p.G283G		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	283					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTGCTAGCTGGCCTACTTGCT	0.512																																					p.G283G		.											.	.	.	0			c.C849A						.						184.0	166.0	172.0					22																	17072592		2203	4300	6503	SO:0001819	synonymous_variant	150160	exon1			TAGCTGGCCTACT	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.849C>A	22.37:g.17072592G>T		Somatic	42	0		WXS	Illumina HiSeq	.	30	7	NM_014406	A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	37	CCDS13738.1																																																																																			.		0.512	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1		
PI15	51050	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	75737614	75737614	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr8:75737614C>A	ENST00000260113.2	+	2	309	c.130C>A	c.(130-132)Ctg>Atg	p.L44M	PI15_ENST00000523773.1_Missense_Mutation_p.L44M|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	44						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			TGAAGCAGCTCTGAAAGCACA	0.453																																					p.L44M		.											.	.	.	0			c.C130A						.						117.0	111.0	113.0					8																	75737614		2203	4300	6503	SO:0001583	missense	51050	exon2			GCAGCTCTGAAAG	D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.130C>A	8.37:g.75737614C>A	ENSP00000260113:p.Leu44Met	Somatic	38	0		WXS	Illumina HiSeq	.	31	8	NM_015886	Q68CY1	Missense_Mutation	SNP	ENST00000260113.2	37	CCDS6218.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830306	0.32329	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.09073	3.02;3.02	4.91	4.03	0.46877	.	0.266459	0.31897	N	0.006893	T	0.09291	0.0229	L	0.54323	1.7	0.35413	D	0.7926	P	0.48640	0.913	B	0.40741	0.339	T	0.19811	-1.0294	10	0.59425	D	0.04	.	8.391	0.32528	0.0:0.7776:0.0:0.2224	.	44	O43692	PI15_HUMAN	M	44	ENSP00000260113:L44M;ENSP00000428567:L44M	ENSP00000260113:L44M	L	+	1	2	PI15	75900169	0.986000	0.35501	0.948000	0.38648	0.989000	0.77384	0.921000	0.28718	1.443000	0.47586	-0.140000	0.14226	CTG	.		0.453	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886	
CDH13	1012	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	83520260	83520260	+	Splice_Site	SNP	G	G	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr16:83520260G>A	ENST00000566620.1	+	7	1250	c.960G>A	c.(958-960)gaG>gaA	p.E320E	CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Splice_Site_p.E281E|CDH13_ENST00000268613.10_Splice_Site_p.E367E	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	320	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TGGACCGAGAGGTGAGCTGAA	0.468																																					p.E367E		.											.	.	.	0			c.G1101A						.						75.0	71.0	73.0					16																	83520260		2024	4195	6219	SO:0001630	splice_region_variant	1012	exon8			CCGAGAGGTGAGC	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.960+1G>A	16.37:g.83520260G>A		Somatic	22	0		WXS	Illumina HiSeq	.	25	7	NM_001220488	A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	ENST00000566620.1	37	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148731	0.57151	.	.	ENSG00000140945	ENST00000540531	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7036	0.91630	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDH13	82077761	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.054000	0.93866	2.664000	0.90586	0.655000	0.94253	.	.		0.468	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257	Silent
GLTSCR1	29998	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	48198732	48198732	+	Splice_Site	SNP	G	G	C			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr19:48198732G>C	ENST00000396720.3	+	10	3380		c.e10+1		CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1											breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CGGGCTGCAGGTAAGGGGCCC	0.647																																					.		.											.	.	.	0			c.3186+1G>C						.						9.0	10.0	10.0					19																	48198732		2011	4171	6182	SO:0001630	splice_region_variant	29998	exon10			CTGCAGGTAAGGG	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.3186+1G>C	19.37:g.48198732G>C		Somatic	37	0		WXS	Illumina HiSeq	.	59	22	NM_015711	A8MW01	Splice_Site	SNP	ENST00000396720.3	37	CCDS46134.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.684568	0.29872	.	.	ENSG00000063169	ENST00000396720	.	.	.	2.82	1.68	0.24146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3265	0.26557	0.0:0.2756:0.7244:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GLTSCR1	52890544	1.000000	0.71417	0.361000	0.25849	0.209000	0.24338	3.184000	0.50926	0.464000	0.27142	0.313000	0.20887	.	.		0.647	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711	Intron
CTR9	9646	hgsc.bcm.edu	37	11	10794117	10794117	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr11:10794117G>T	ENST00000361367.2	+	20	2921	c.2495G>T	c.(2494-2496)cGc>cTc	p.R832L		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	832					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GCCCGGGCACGCAAACAAGAT	0.443																																					p.R832L		.											CTR9,NS,carcinoma,0,1	CTR9	0	0			c.G2495T						.						60.0	62.0	61.0					11																	10794117		2201	4294	6495	SO:0001583	missense	9646	exon20			GGGCACGCAAACA	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.2495G>T	11.37:g.10794117G>T	ENSP00000355013:p.Arg832Leu	Somatic	52	0		WXS	Illumina HiSeq	.	37	2	NM_014633	D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	G	35	5.520778	0.96416	.	.	ENSG00000198730	ENST00000361367	T	0.50277	0.75	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.53867	0.1823	M	0.83852	2.665	0.80722	D	1	B	0.32604	0.377	B	0.23419	0.046	T	0.59096	-0.7518	10	0.56958	D	0.05	-11.309	19.9317	0.97122	0.0:0.0:1.0:0.0	.	832	Q6PD62	CTR9_HUMAN	L	832	ENSP00000355013:R832L	ENSP00000355013:R832L	R	+	2	0	CTR9	10750693	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.716000	0.92895	0.591000	0.81541	CGC	.		0.443	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633	
CMA1	1215	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	24974805	24974805	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr14:24974805G>A	ENST00000250378.3	-	5	690	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Missense_Mutation_p.R110W	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	221	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		GCATCCGACCGTCCATAGGAT	0.592																																					p.R221W		.											.	.	.	0			c.C661T						.						77.0	76.0	76.0					14																	24974805		2203	4300	6503	SO:0001583	missense	1215	exon5			CCGACCGTCCATA		CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.661C>T	14.37:g.24974805G>A	ENSP00000250378:p.Arg221Trp	Somatic	23	0		WXS	Illumina HiSeq	.	29	7	NM_001836	B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Missense_Mutation	SNP	ENST00000250378.3	37	CCDS9630.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.378488	0.42207	.	.	ENSG00000092009	ENST00000250378;ENST00000206446	D;D	0.89123	-2.47;-2.47	5.38	1.02	0.19986	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.700130	0.01047	N	0.004417	D	0.90448	0.7009	L	0.39467	1.215	0.09310	N	1	D	0.76494	0.999	P	0.54431	0.752	T	0.78239	-0.2281	10	0.46703	T	0.11	.	12.6318	0.56661	0.0:0.0:0.4459:0.5541	.	221	P23946	CMA1_HUMAN	W	221;110	ENSP00000250378:R221W;ENSP00000206446:R110W	ENSP00000206446:R110W	R	-	1	2	CMA1	24044645	0.001000	0.12720	0.000000	0.03702	0.395000	0.30598	-0.140000	0.10342	0.000000	0.14550	0.655000	0.94253	CGG	.		0.592	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2		
ZC3H6	376940	hgsc.bcm.edu;bcgsc.ca	37	2	113069514	113069514	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr2:113069514G>T	ENST00000409871.1	+	5	1148	c.747G>T	c.(745-747)gaG>gaT	p.E249D	ZC3H6_ENST00000343936.4_Splice_Site_p.E249D	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	249							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						ACTTTCAAGAGGTACTAAGAA	0.378																																					p.E249D		.											.	.	.	0			c.G747T						.						61.0	63.0	62.0					2																	113069514		1837	4078	5915	SO:0001630	splice_region_variant	376940	exon5			TCAAGAGGTACTA	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.747+1G>T	2.37:g.113069514G>T		Somatic	75	0		WXS	Illumina HiSeq	.	81	4	NM_198581	A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106417	0.56291	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.15487	2.42;2.42	4.98	4.98	0.66077	.	0.372648	0.28312	N	0.015807	T	0.17831	0.0428	M	0.64567	1.98	0.50467	D	0.999873	P	0.41313	0.745	B	0.32928	0.155	T	0.07424	-1.0773	10	0.22109	T	0.4	-12.21	17.1812	0.86855	0.0:0.0:1.0:0.0	.	249	P61129	ZC3H6_HUMAN	D	249;249;226	ENSP00000386764:E249D;ENSP00000340298:E249D	ENSP00000340298:E249D	E	+	3	2	ZC3H6	112785985	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	6.266000	0.72540	2.473000	0.83533	0.462000	0.41574	GAG	.		0.378	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581	Missense_Mutation
DLX5	1749	hgsc.bcm.edu	37	7	96653802	96653802	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr7:96653802G>T	ENST00000222598.4	-	1	607	c.134C>A	c.(133-135)tCt>tAt	p.S45Y	DLX5_ENST00000493764.1_5'UTR|DLX5_ENST00000486603.2_Missense_Mutation_p.S45Y	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	45					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GTAGTAGTCAGAATCGGTAGC	0.577																																					p.S45Y		.											DLX5,colon,carcinoma,0,1	DLX5	0	0			c.C134A						.						51.0	56.0	55.0					7																	96653802		2203	4300	6503	SO:0001583	missense	1749	exon1			TAGTCAGAATCGG		CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"""Homeoboxes / ANTP class : NKL subclass"""	2918	protein-coding gene	gene with protein product		600028	"""distal-less homeo box 5"""			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.134C>A	7.37:g.96653802G>T	ENSP00000222598:p.Ser45Tyr	Somatic	56	0		WXS	Illumina HiSeq	.	43	2	NM_005221	B7Z4P3|Q9UPL1	Missense_Mutation	SNP	ENST00000222598.4	37	CCDS5647.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062261	0.76187	.	.	ENSG00000105880	ENST00000222598	D	0.90444	-2.67	4.97	4.97	0.65823	.	0.112205	0.64402	D	0.000006	D	0.95033	0.8392	M	0.82823	2.61	0.58432	D	0.999996	P;D	0.57571	0.704;0.98	P;D	0.69479	0.746;0.964	D	0.93119	0.6523	10	0.19147	T	0.46	-4.4275	18.4442	0.90678	0.0:0.0:1.0:0.0	.	45;45	B7Z4P3;P56178	.;DLX5_HUMAN	Y	45	ENSP00000222598:S45Y	ENSP00000222598:S45Y	S	-	2	0	DLX5	96491738	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.726000	0.84824	2.583000	0.87209	0.561000	0.74099	TCT	.		0.577	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2		
ZNF467	168544	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	149473162	149473162	+	5'Flank	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr7:149473162C>T	ENST00000302017.3	-	0	0				ZNF467_ENST00000484747.1_5'Flank|SSPO_ENST00000378016.2_RNA	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TTTGGGATGGCGTGGGCCCTG	0.652																																					p.A11V		.											.	.	.	0			c.C32T						.						29.0	33.0	32.0					7																	149473162		1989	4153	6142	SO:0001631	upstream_gene_variant	23145	exon1			GGATGGCGTGGGC	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883		7.37:g.149473162C>T	Exception_encountered	Somatic	31	0		WXS	Illumina HiSeq	.	26	4	NM_198455		Missense_Mutation	SNP	ENST00000302017.3	37	CCDS5899.1																																																																																			.		0.652	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336	
SMARCC1	6599	hgsc.bcm.edu	37	3	47702803	47702803	+	Silent	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr3:47702803G>T	ENST00000254480.5	-	21	2420	c.2301C>A	c.(2299-2301)ccC>ccA	p.P767P	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	767					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)	p.P767P(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CTGGCTCATCGGGCCCTGTGC	0.473																																					p.P767P		.											SMARCC1,mouth,carcinoma,0,1	SMARCC1	0	2	Substitution - coding silent(2)	upper_aerodigestive_tract(1)|lung(1)	c.C2301A						.						117.0	105.0	109.0					3																	47702803		2203	4300	6503	SO:0001819	synonymous_variant	6599	exon21			CTCATCGGGCCCT	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.2301C>A	3.37:g.47702803G>T		Somatic	30	0		WXS	Illumina HiSeq	.	25	2	NM_003074	Q17RS0|Q6P172|Q8IWH2	Silent	SNP	ENST00000254480.5	37	CCDS2758.1																																																																																			.		0.473	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1		
NUP50	10762	hgsc.bcm.edu	37	22	45574136	45574136	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr22:45574136G>T	ENST00000347635.4	+	5	824	c.358G>T	c.(358-360)Ggc>Tgc	p.G120C	NUP50_ENST00000425733.2_5'UTR|CTA-268H5.12_ENST00000610217.1_RNA|NUP50_ENST00000486184.1_3'UTR|NUP50_ENST00000396096.2_Missense_Mutation_p.G92C|NUP50_ENST00000407019.2_Missense_Mutation_p.G92C	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	120	5 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGCTGCAAATGGCCCTACCAC	0.408																																					p.G120C		.											.	.	.	0			c.G358T						.						69.0	69.0	69.0					22																	45574136		2203	4300	6503	SO:0001583	missense	10762	exon5			GCAAATGGCCCTA	AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000			8065	protein-coding gene	gene with protein product		604646	"""nucleoporin 50kD"""	NPAP60L		10449902	Standard	XM_005261312		Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.358G>T	22.37:g.45574136G>T	ENSP00000345895:p.Gly120Cys	Somatic	110	0		WXS	Illumina HiSeq	.	72	4	NM_007172	B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Missense_Mutation	SNP	ENST00000347635.4	37	CCDS14062.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.46|15.46	2.840930|2.840930	0.51057|0.51057	.|.	.|.	ENSG00000093000|ENSG00000093000	ENST00000347635;ENST00000407019;ENST00000396096|ENST00000430547	.|.	.|.	.|.	5.46|5.46	5.46|5.46	0.80206|0.80206	Nuclear pore complex, NUP2/50/61 (1);|.	0.153416|.	0.64402|.	D|.	0.000017|.	T|T	0.71126|0.71126	0.3303|0.3303	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79784|.	0.993|.	T|T	0.66512|0.66512	-0.5905|-0.5905	9|6	0.56958|0.26408	D|T	0.05|0.33	-21.1826|-21.1826	15.1946|15.1946	0.73078|0.73078	0.0:0.1403:0.8597:0.0|0.0:0.1403:0.8597:0.0	.|.	120|.	Q9UKX7|.	NUP50_HUMAN|.	C|I	120;92;92|57	.|.	ENSP00000345895:G120C|ENSP00000397960:M57I	G|M	+|+	1|3	0|0	NUP50|NUP50	43952800|43952800	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.497000|0.497000	0.33675|0.33675	3.645000|3.645000	0.54389|0.54389	2.713000|2.713000	0.92767|0.92767	0.655000|0.655000	0.94253|0.94253	GGC|ATG	.		0.408	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321993.2		
CACNA1F	778	hgsc.bcm.edu;broad.mit.edu	37	X	49079211	49079211	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chrX:49079211G>T	ENST00000376265.2	-	16	2266	c.2205C>A	c.(2203-2205)tgC>tgA	p.C735*	CACNA1F_ENST00000376251.1_Nonsense_Mutation_p.C670*|CACNA1F_ENST00000323022.5_Nonsense_Mutation_p.C724*|CACNA1F_ENST00000480889.1_5'UTR	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	735					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TGAAATAGATGCACACCAACA	0.527																																					p.C735X		.											.	.	.	0			c.C2205A						.						141.0	106.0	118.0					X																	49079211		2203	4300	6503	SO:0001587	stop_gained	778	exon16			ATAGATGCACACC	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.2205C>A	X.37:g.49079211G>T	ENSP00000365441:p.Cys735*	Somatic	7	0		WXS	Illumina HiSeq	.	9	6	NM_005183	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Nonsense_Mutation	SNP	ENST00000376265.2	37	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	.	37	6.178486	0.97352	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	.	.	.	4.49	0.49	0.16861	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.8715	0.29569	0.6162:0.0:0.3838:0.0	.	.	.	.	X	670;724;735	.	ENSP00000321618:C724X	C	-	3	2	CACNA1F	48966155	0.004000	0.15560	0.901000	0.35422	0.878000	0.50629	0.012000	0.13287	-0.082000	0.12640	0.411000	0.27672	TGC	.		0.527	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183	
PLCL2	23228	hgsc.bcm.edu	37	3	17084422	17084422	+	Silent	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr3:17084422C>T	ENST00000418129.2	+	4	3162	c.2697C>T	c.(2695-2697)atC>atT	p.I899I	PLCL2_ENST00000396755.2_Silent_p.I899I|PLCL2_ENST00000432376.1_Silent_p.I899I|PLCL2-AS1_ENST00000414844.2_RNA	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	1025					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ATGAAAAGATCGTACATTGTC	0.368																																					p.I899I		.											.	.	.	0			c.C2697T						.						210.0	204.0	206.0					3																	17084422		2203	4300	6503	SO:0001819	synonymous_variant	23228	exon4			AAAGATCGTACAT	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.2697C>T	3.37:g.17084422C>T		Somatic	77	0		WXS	Illumina HiSeq	.	69	3	NM_015184	A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Silent	SNP	ENST00000418129.2	37	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	C	8.724	0.914990	0.17907	.	.	ENSG00000154822	ENST00000419842	.	.	.	5.87	-5.91	0.02269	.	.	.	.	.	T	0.48205	0.1487	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50857	-0.8778	4	.	.	.	.	7.7737	0.29023	0.1287:0.3777:0.0:0.4937	.	.	.	.	L	643	.	.	S	+	2	0	PLCL2	17059426	0.050000	0.20438	0.906000	0.35671	0.901000	0.52897	-1.970000	0.01504	-0.832000	0.04251	-0.205000	0.12727	TCG	.		0.368	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3		
STAB1	23166	hgsc.bcm.edu;ucsc.edu	37	3	52536050	52536050	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr3:52536050C>A	ENST00000321725.6	+	4	436	c.360C>A	c.(358-360)tgC>tgA	p.C120*		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	120	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AGACCCCATGCAATGGCCACG	0.647																																					p.C120X		.											.	.	.	0			c.C360A						.						51.0	56.0	54.0					3																	52536050		2203	4300	6503	SO:0001587	stop_gained	23166	exon4			CCCATGCAATGGC	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.360C>A	3.37:g.52536050C>A	ENSP00000312946:p.Cys120*	Somatic	37	0		WXS	Illumina HiSeq	.	20	4	NM_015136	A7E297|Q8IUH0|Q8IUH1|Q93072	Nonsense_Mutation	SNP	ENST00000321725.6	37	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356194	0.61293	.	.	ENSG00000010327	ENST00000321725	.	.	.	4.36	-1.54	0.08584	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.2201	8.7427	0.34567	0.0:0.3944:0.0:0.6056	.	.	.	.	X	120	.	ENSP00000312946:C120X	C	+	3	2	STAB1	52511090	0.918000	0.31147	0.472000	0.27241	0.993000	0.82548	0.677000	0.25262	-0.277000	0.09193	0.514000	0.50259	TGC	.		0.647	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136	
KIAA1407	57577	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	113724730	113724730	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr3:113724730G>T	ENST00000295878.3	-	10	1639	c.1493C>A	c.(1492-1494)aCa>aAa	p.T498K	KIAA1407_ENST00000545063.1_Missense_Mutation_p.T329K	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	498										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCCTGTTGTTGTTCTTCCCAG	0.532																																					p.T498K		.											.	.	.	0			c.C1493A						.						134.0	136.0	135.0					3																	113724730		2203	4300	6503	SO:0001583	missense	57577	exon10			GTTGTTGTTCTTC	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1493C>A	3.37:g.113724730G>T	ENSP00000295878:p.Thr498Lys	Somatic	8	0		WXS	Illumina HiSeq	.	17	4	NM_020817	B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	G	2.307	-0.358868	0.05138	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000	T;T;T	0.41065	1.61;1.01;1.03	5.23	4.29	0.51040	.	0.907811	0.09620	N	0.777723	T	0.19765	0.0475	N	0.08118	0	0.09310	N	0.999999	B;B;B	0.16802	0.019;0.019;0.019	B;B;B	0.15484	0.007;0.013;0.007	T	0.22487	-1.0215	10	0.05525	T	0.97	.	8.2856	0.31926	0.0863:0.0:0.7473:0.1664	.	485;374;498	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	K	498;329;485	ENSP00000295878:T498K;ENSP00000446381:T329K;ENSP00000418099:T485K	ENSP00000295878:T498K	T	-	2	0	KIAA1407	115207420	0.005000	0.15991	0.012000	0.15200	0.209000	0.24338	1.273000	0.33121	2.716000	0.92895	0.655000	0.94253	ACA	.		0.532	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817	
OR4M1	441670	hgsc.bcm.edu	37	14	20248958	20248958	+	Missense_Mutation	SNP	G	G	T	rs373976062		TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr14:20248958G>T	ENST00000315957.4	+	1	558	c.477G>T	c.(475-477)caG>caT	p.Q159H		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q159H(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTATAATACAGGTGGCTCTCA	0.507																																					p.Q159H		.											OR4M1,NS,carcinoma,0,1	OR4M1	0	1	Substitution - Missense(1)	lung(1)	c.G477T						.						249.0	258.0	255.0					14																	20248958		2203	4300	6503	SO:0001583	missense	441670	exon1			AATACAGGTGGCT		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.477G>T	14.37:g.20248958G>T	ENSP00000319654:p.Gln159His	Somatic	95	0		WXS	Illumina HiSeq	.	60	3	NM_001005500	B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	14.56	2.573341	0.45902	.	.	ENSG00000176299	ENST00000315957	T	0.00019	9.06	4.43	-0.843	0.10744	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000262	T	0.00109	0.0003	L	0.33710	1.025	0.30043	N	0.812465	B	0.21071	0.051	B	0.30251	0.113	T	0.19910	-1.0291	10	0.62326	D	0.03	-7.1773	5.1162	0.14834	0.4893:0.1542:0.3565:0.0	.	159	Q8NGD0	OR4M1_HUMAN	H	159	ENSP00000319654:Q159H	ENSP00000319654:Q159H	Q	+	3	2	OR4M1	19318798	0.000000	0.05858	0.992000	0.48379	0.973000	0.67179	-0.455000	0.06762	-0.268000	0.09312	-0.360000	0.07572	CAG	.		0.507	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1		
SOX6	55553	hgsc.bcm.edu	37	11	16208345	16208345	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr11:16208345C>A	ENST00000352083.6	-	5	769	c.692G>T	c.(691-693)cGc>cTc	p.R231L	SOX6_ENST00000527619.1_Missense_Mutation_p.R234L|SOX6_ENST00000528429.1_Missense_Mutation_p.R231L|SOX6_ENST00000316399.6_Missense_Mutation_p.R231L|SOX6_ENST00000396356.3_Missense_Mutation_p.R231L|SOX6_ENST00000528252.1_Missense_Mutation_p.R231L			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	231	Gln-rich.				astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TTGCTGTTGGCGAGCAAGGTC	0.483																																					p.R244L		.											SOX6_ENST00000527619,NS,malignant_melanoma,0,2	SOX6_ENST00000527619	0	0			c.G731T						.						184.0	173.0	177.0					11																	16208345		2200	4294	6494	SO:0001583	missense	55553	exon5			TGTTGGCGAGCAA	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.692G>T	11.37:g.16208345C>A	ENSP00000339876:p.Arg231Leu	Somatic	31	0		WXS	Illumina HiSeq	.	29	2	NM_001145819	Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	ENST00000352083.6	37		.	.	.	.	.	.	.	.	.	.	C	25.0	4.593893	0.86953	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	D;D;D;D;D;D	0.98876	-5.19;-5.16;-5.19;-5.2;-5.2;-5.16	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.99118	0.9696	M	0.77313	2.365	0.80722	D	1	D;D;D	0.89917	1.0;0.978;0.997	D;P;D	0.91635	0.999;0.754;0.986	D	0.99709	1.1006	10	0.52906	T	0.07	.	19.8956	0.96956	0.0:1.0:0.0:0.0	.	231;231;234	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	L	231;231;231;231;234;231	ENSP00000324948:R231L;ENSP00000339876:R231L;ENSP00000379644:R231L;ENSP00000432134:R231L;ENSP00000434455:R234L;ENSP00000433233:R231L	ENSP00000324948:R231L	R	-	2	0	SOX6	16164921	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.708000	0.92522	0.563000	0.77884	CGC	.		0.483	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326	
ERICH3	127254	hgsc.bcm.edu	37	1	75039126	75039126	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr1:75039126G>T	ENST00000326665.5	-	14	2486	c.2268C>A	c.(2266-2268)aaC>aaA	p.N756K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		756	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GGGATTCCTTGTTTGAGTTGA	0.403																																					p.N756K		.											C1orf173,right_upper_lobe,carcinoma,0,1	C1orf173	0	0			c.C2268A						.						90.0	92.0	91.0					1																	75039126		2203	4300	6503	SO:0001583	missense	127254	exon14			TTCCTTGTTTGAG																												ENST00000326665.5:c.2268C>A	1.37:g.75039126G>T	ENSP00000322609:p.Asn756Lys	Somatic	38	0		WXS	Illumina HiSeq	.	21	2	NM_001002912	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626844	0.46840	.	.	ENSG00000178965	ENST00000326665	T	0.13538	2.58	5.26	-0.288	0.12855	.	.	.	.	.	T	0.01765	0.0056	N	0.22421	0.69	0.09310	N	1	P	0.34462	0.454	B	0.34452	0.183	T	0.41875	-0.9484	9	0.13108	T	0.6	0.4601	1.0898	0.01661	0.3614:0.1453:0.344:0.1493	.	756	Q5RHP9	CA173_HUMAN	K	756	ENSP00000322609:N756K	ENSP00000322609:N756K	N	-	3	2	C1orf173	74811714	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.319000	0.08039	0.288000	0.22398	0.655000	0.94253	AAC	.		0.403	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		
CDC27	996	hgsc.bcm.edu	37	17	45214623	45214623	+	Missense_Mutation	SNP	G	G	A	rs75637741		TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr17:45214623G>A	ENST00000066544.3	-	14	1901	c.1808C>T	c.(1807-1809)gCc>gTc	p.A603V	CDC27_ENST00000527547.1_Missense_Mutation_p.A602V|CDC27_ENST00000531206.1_Missense_Mutation_p.A609V|CDC27_ENST00000446365.2_Missense_Mutation_p.A542V	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	603					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TAGAGTATAGGCATAAGCGTA	0.383																																					p.A609V		.											CDC27_ENST00000531206,rectum,carcinoma,0,2	CDC27_ENST00000531206	0	0			c.C1826T						.																																			SO:0001583	missense	996	exon14			GTATAGGCATAAG	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1808C>T	17.37:g.45214623G>A	ENSP00000066544:p.Ala603Val	Somatic	71	2		WXS	Illumina HiSeq	.	88	8	NM_001114091	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	G	36	5.873394	0.97049	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.81	5.81	0.92471	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.74382	0.3709	M	0.93594	3.435	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.993;0.993;0.994	T	0.80863	-0.1192	10	0.87932	D	0	-9.797	17.5633	0.87913	0.0:0.0:1.0:0.0	.	542;602;609;603	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	V	603;609;542;602	ENSP00000066544:A603V;ENSP00000434614:A609V;ENSP00000392802:A542V;ENSP00000437339:A602V	ENSP00000066544:A603V	A	-	2	0	CDC27	42569622	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.761000	0.94854	0.585000	0.79938	GCC	.		0.383	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
TENM2	57451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	167674541	167674541	+	Silent	SNP	G	G	A	rs540072530|rs34968426		TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr5:167674541G>A	ENST00000518659.1	+	27	6636	c.6597G>A	c.(6595-6597)acG>acA	p.T2199T	TENM2_ENST00000403607.2_Silent_p.T2023T|TENM2_ENST00000519204.1_Silent_p.T2078T|TENM2_ENST00000520394.1_Silent_p.T1960T|TENM2_ENST00000545108.1_Silent_p.T2198T	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2199					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CCAATACCACGAAGTACACCT	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19865	0.0		0.0	False		,,,				2504	0.0				p.T2190T		.											.	.	.	0			c.G6570A						.						84.0	82.0	82.0					5																	167674541		2057	4206	6263	SO:0001819	synonymous_variant	57451	exon27			TACCACGAAGTAC	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.6597G>A	5.37:g.167674541G>A		Somatic	34	0		WXS	Illumina HiSeq	.	31	8	NM_001122679	Q9ULU2	Silent	SNP	ENST00000518659.1	37																																																																																				.		0.557	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679	
TENM1	10178	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	123839042	123839042	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chrX:123839042T>C	ENST00000371130.3	-	5	899	c.836A>G	c.(835-837)aAc>aGc	p.N279S	TENM1_ENST00000422452.2_Missense_Mutation_p.N279S	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	279	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CAGAGGGTAGTTCTGACTGGC	0.488																																					p.N279S		.											.	.	.	0			c.A836G						.						118.0	105.0	110.0					X																	123839042		2203	4300	6503	SO:0001583	missense	10178	exon5			GGGTAGTTCTGAC	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.836A>G	X.37:g.123839042T>C	ENSP00000360171:p.Asn279Ser	Somatic	25	0		WXS	Illumina HiSeq	.	31	10	NM_001163278	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	17.84	3.488352	0.64074	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.28069	1.63;1.63	5.69	5.69	0.88448	Teneurin intracellular, N-terminal (2);	0.124662	0.56097	D	0.000036	T	0.28599	0.0708	L	0.36672	1.1	0.40534	D	0.980956	P;P;P	0.45428	0.798;0.798;0.858	P;P;P	0.44673	0.457;0.457;0.45	T	0.10291	-1.0636	10	0.72032	D	0.01	.	9.4769	0.38878	0.0:0.0797:0.0:0.9203	.	279;279;279	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	S	279	ENSP00000360171:N279S;ENSP00000403954:N279S	ENSP00000360171:N279S	N	-	2	0	ODZ1	123666723	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.379000	0.59575	1.905000	0.55150	0.425000	0.28330	AAC	.		0.488	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
LOC101927209	101927209	broad.mit.edu	37	1	142727005	142727005	+	lincRNA	DEL	T	T	-			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr1:142727005delT	ENST00000610091.1	-	0	111																											ATCACATATATTTTATACAAC	0.348																																					.													.	.	.	0			.						.																																					0	.			CATATATTTTATA																													1.37:g.142727005delT		Somatic	414	0		WXS	Illumina GAIIx	Phase_I	343	48	.		RNA	DEL	ENST00000610091.1	37																																																																																				.		0.348	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2		
OR1C1	26188	hgsc.bcm.edu	37	1	247920861	247920861	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr1:247920861G>A	ENST00000408896.2	-	1	1121	c.848C>T	c.(847-849)cCg>cTg	p.P283L		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	283					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P283L(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ATTCAGCATCGGAGCCACCAT	0.468																																					p.P283L		.											OR1C1,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,1	OR1C1	0	1	Substitution - Missense(1)	central_nervous_system(1)	c.C848T						.						113.0	106.0	109.0					1																	247920861		1969	4169	6138	SO:0001583	missense	26188	exon1			AGCATCGGAGCCA	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.848C>T	1.37:g.247920861G>A	ENSP00000386138:p.Pro283Leu	Somatic	38	0		WXS	Illumina HiSeq	.	21	3	NM_012353	B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343684	0.24339	.	.	ENSG00000221888	ENST00000408896	T	0.00337	8.05	3.22	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00936	0.0031	H	0.98005	4.125	0.09310	N	0.999999	P	0.48162	0.906	P	0.51453	0.67	T	0.16600	-1.0397	9	0.66056	D	0.02	.	10.408	0.44276	0.1025:0.0:0.8975:0.0	.	283	Q15619	OR1C1_HUMAN	L	283	ENSP00000386138:P283L	ENSP00000386138:P283L	P	-	2	0	OR1C1	245987484	0.991000	0.36638	0.030000	0.17652	0.029000	0.11900	2.789000	0.47813	0.669000	0.31146	0.591000	0.81541	CCG	.		0.468	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1		
DSCAML1	57453	broad.mit.edu;ucsc.edu	37	11	117375684	117375684	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr11:117375684C>T	ENST00000321322.6	-	10	2318	c.2317G>A	c.(2317-2319)Gtg>Atg	p.V773M	DSCAML1_ENST00000527706.1_Missense_Mutation_p.V503M	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	713	Ig-like C2-type 8.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TAGCCGTCCACCGAGCAGTTG	0.597																																					p.V773M													.	DSCAML1	286	0			c.G2317A						.						89.0	78.0	82.0					11																	117375684		2201	4296	6497	SO:0001583	missense	57453	exon10			CGTCCACCGAGCA		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2317G>A	11.37:g.117375684C>T	ENSP00000315465:p.Val773Met	Somatic	15	0		WXS	Illumina GAIIx	Phase_I	22	5	NM_020693	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383691	0.82792	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.75154	-0.91;-0.91	4.32	4.32	0.51571	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83801	0.5333	M	0.67953	2.075	0.80722	D	1	D	0.63880	0.993	D	0.65323	0.934	D	0.86390	0.1735	9	0.87932	D	0	.	16.5931	0.84781	0.0:1.0:0.0:0.0	.	713	Q8TD84	DSCL1_HUMAN	M	503;773;480	ENSP00000434335:V503M;ENSP00000315465:V773M	ENSP00000315465:V773M	V	-	1	0	DSCAML1	116880894	1.000000	0.71417	0.949000	0.38748	0.893000	0.52053	7.559000	0.82265	2.222000	0.72286	0.313000	0.20887	GTG	.		0.597	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693	
ATN1	1822	broad.mit.edu	37	12	7045653	7045653	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr12:7045653A>C	ENST00000356654.4	+	5	1460	c.1223A>C	c.(1222-1224)tAc>tCc	p.Y408S	ATN1_ENST00000396684.2_Missense_Mutation_p.Y408S	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	408					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TTGCCCAGCTACCCCCACTCT	0.577																																					p.Y408S													.	ATN1	95	0			c.A1223C						.						76.0	63.0	68.0					12																	7045653		2203	4300	6503	SO:0001583	missense	1822	exon5			CCAGCTACCCCCA	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1223A>C	12.37:g.7045653A>C	ENSP00000349076:p.Tyr408Ser	Somatic	45	2		WXS	Illumina GAIIx	Phase_I	38	7	NM_001007026	Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	a	0.030	-1.343103	0.01277	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325	T;T;T	0.52754	0.65;0.65;0.65	3.73	2.57	0.30868	.	0.000000	0.31167	U	0.008136	T	0.45418	0.1341	L	0.40543	1.245	0.42886	D	0.994185	D;P	0.53619	0.961;0.948	P;P	0.54759	0.76;0.665	T	0.26710	-1.0095	10	0.19590	T	0.45	.	8.505	0.33181	0.9048:0.0:0.0952:0.0	.	408;408	Q86V38;P54259	.;ATN1_HUMAN	S	408	ENSP00000349076:Y408S;ENSP00000379915:Y408S;ENSP00000441744:Y408S	ENSP00000349076:Y408S	Y	+	2	0	ATN1	6915914	0.004000	0.15560	0.987000	0.45799	0.024000	0.10985	1.045000	0.30341	1.468000	0.48064	0.478000	0.44815	TAC	.		0.577	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940	
CHEK2P2	646096	broad.mit.edu	37	15	20488770	20488770	+	RNA	SNP	A	A	G			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr15:20488770A>G	ENST00000555186.1	+	0	253					NR_038836.1				checkpoint kinase 2 pseudogene 2																		TGGGCACTCCAAGATTTTGGG	0.408																																					.													.	.	.	0			.						.																																					0	.			CACTCCAAGATTT			15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20488770A>G		Somatic	213	2		WXS	Illumina GAIIx	Phase_I	159	4	.		RNA	SNP	ENST00000555186.1	37																																																																																				.		0.408	CHEK2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000414654.1	NR_038836	
PKD1L2	114780	broad.mit.edu	37	16	81198502	81198502	+	RNA	DEL	C	C	-			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr16:81198502delC	ENST00000525539.1	-	0	3218				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGTTTTGATTCCCATAGGTGG	0.562																																					.													.	PKD1L2	361	0			.						.																																					114780	.			TTGATTCCCATAG	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81198502delC		Somatic	5	0		WXS	Illumina GAIIx	Phase_I	6	2	.	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	DEL	ENST00000525539.1	37																																																																																				.		0.562	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2		
OTOF	9381	broad.mit.edu	37	2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)aagdel	p.K1310del	OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCAGTGCCcttcttcttcttc	0.576																																					p.1310_1310del	GBM(102;732 1451 20652 24062 31372)												.	OTOF	524	0			c.3928_3930del						.		,,,	10,9,4247		0,0,10,0,9,2114					,,,	4.9	1.0			146	5,24,8225		0,0,5,0,24,4098	no	codingComplex,codingComplex,codingComplex,codingComplex	OTOF	NM_194323.2,NM_194322.2,NM_194248.2,NM_004802.3	,,,	0,0,15,0,33,6212	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3513,0.4454,0.3834	,,,	,,,		15,33,12472				SO:0001651	inframe_deletion	9381	exon32			AGTGCCCTTCTTC	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3928_3930delAAG	2.37:g.26693563_26693565delCTT	ENSP00000272371:p.Lys1310del	Somatic	5	0		WXS	Illumina GAIIx	Phase_I	6	2	NM_194248	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	In_Frame_Del	DEL	ENST00000272371.2	37	CCDS1725.1																																																																																			.		0.576	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3		
AC017002.1	0	broad.mit.edu	37	2	112252464	112252464	+	lincRNA	SNP	G	G	A	rs1128295		TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr2:112252464G>A	ENST00000455309.1	+	0	390				AC017002.2_ENST00000432268.1_lincRNA																							ATACTCACCAGGGAGAGGCTG	0.537																																					.													.	.	.	0			.						.																																					0	.			TCACCAGGGAGAG																													2.37:g.112252464G>A		Somatic	70	1		WXS	Illumina GAIIx	Phase_I	54	3	.		RNA	SNP	ENST00000455309.1	37																																																																																				G|0.500;A|0.500		0.537	AC017002.1-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000332149.1		
SLC5A1	6523	broad.mit.edu	37	22	32500775	32500775	+	Silent	SNP	C	C	G			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr22:32500775C>G	ENST00000266088.4	+	14	1918	c.1668C>G	c.(1666-1668)ctC>ctG	p.L556L	SLC5A1_ENST00000543737.1_Silent_p.L429L	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	556					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	CTCTGCAGCTCTACCGTCTGT	0.507																																					p.L556L													.	SLC5A1	80	0			c.C1668G						.						80.0	69.0	72.0					22																	32500775		2203	4300	6503	SO:0001819	synonymous_variant	6523	exon14			GCAGCTCTACCGT		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1668C>G	22.37:g.32500775C>G		Somatic	20	0		WXS	Illumina GAIIx	Phase_I	27	5	NM_000343	B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	ENST00000266088.4	37	CCDS13902.1																																																																																			.		0.507	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343	
BOC	91653	broad.mit.edu	37	3	113002290	113002290	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr3:113002290C>T	ENST00000495514.1	+	16	3168	c.2464C>T	c.(2464-2466)Cca>Tca	p.P822S	BOC_ENST00000273395.4_Missense_Mutation_p.P823S|BOC_ENST00000355385.3_Missense_Mutation_p.P822S			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	822					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TGGTCGACTGCCACCCCCAAC	0.552																																					p.P822S													.	BOC	139	0			c.C2464T						.						93.0	109.0	103.0					3																	113002290		2203	4300	6503	SO:0001583	missense	91653	exon16			CGACTGCCACCCC	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.2464C>T	3.37:g.113002290C>T	ENSP00000418663:p.Pro822Ser	Somatic	39	0		WXS	Illumina GAIIx	Phase_I	28	3	NM_033254	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338329	0.41398	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.61510	0.1;0.11;0.1	5.85	4.97	0.65823	.	0.112837	0.64402	D	0.000010	T	0.65544	0.2701	L	0.60455	1.87	0.41392	D	0.98762	D;P;P	0.58268	0.982;0.735;0.616	P;B;B	0.56751	0.805;0.363;0.199	T	0.59273	-0.7485	10	0.18276	T	0.48	.	15.3623	0.74487	0.0:0.9322:0.0:0.0678	.	639;823;822	Q9BWV1-2;Q9BWV1-3;Q9BWV1	.;.;BOC_HUMAN	S	822;823;822	ENSP00000418663:P822S;ENSP00000273395:P823S;ENSP00000347546:P822S	ENSP00000273395:P823S	P	+	1	0	BOC	114484980	0.933000	0.31639	0.954000	0.39281	0.054000	0.15201	3.805000	0.55575	2.767000	0.95098	0.655000	0.94253	CCA	.		0.552	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254	
IL12A-AS1	101928376	broad.mit.edu;bcgsc.ca	37	3	159818606	159818606	+	RNA	SNP	C	C	T	rs534039857	byFrequency	TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr3:159818606C>T	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		CTCGGCCTGGCGCGGGGGACG	0.726													C|||	2	0.000399361	0.0	0.0	5008	,	,		5639	0.0		0.002	False		,,,				2504	0.0				.													.	.	.	0			.						.																																					0	.			GCCTGGCGCGGGG	AK097161		3q25.33	2013-09-02			ENSG00000244040	ENSG00000244040		"""Long non-coding RNAs"""	49094	non-coding RNA	RNA, long non-coding							Standard	NR_108088		Approved				OTTHUMG00000158951		3.37:g.159818606C>T		Somatic	36	0		WXS	Illumina GAIIx	Phase_I	30	10	.		RNA	SNP	ENST00000497452.1	37																																																																																				.		0.726	IL12A-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000352647.1		
SEMA6A	57556	broad.mit.edu;bcgsc.ca	37	5	115782915	115782915	+	Silent	SNP	G	G	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr5:115782915G>A	ENST00000343348.6	-	19	3274	c.2487C>T	c.(2485-2487)taC>taT	p.Y829Y	SEMA6A_ENST00000257414.8_Silent_p.Y846Y|CTB-118N6.3_ENST00000508424.1_RNA|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000282394.6_Silent_p.Y306Y|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000513137.1_Silent_p.Y256Y|SEMA6A_ENST00000503865.1_Silent_p.Y208Y|SEMA6A_ENST00000510263.1_Silent_p.Y829Y	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	829					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GCTGGTCCACGTACTCATGCT	0.632																																					p.Y829Y													.	SEMA6A	93	0			c.C2487T						.						132.0	133.0	133.0					5																	115782915		2082	4215	6297	SO:0001819	synonymous_variant	57556	exon19			GTCCACGTACTCA	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2487C>T	5.37:g.115782915G>A		Somatic	22	0		WXS	Illumina GAIIx	Phase_I	19	3	NM_020796	Q9P2H9	Silent	SNP	ENST00000343348.6	37	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	G	2.265	-0.368319	0.05069	.	.	ENSG00000092421	ENST00000515129	.	.	.	5.0	-2.32	0.06745	.	.	.	.	.	T	0.57873	0.2083	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55598	-0.8116	4	.	.	.	.	11.9736	0.53078	0.6061:0.0:0.3939:0.0	.	.	.	.	M	344	.	.	T	-	2	0	SEMA6A	115810814	0.973000	0.33851	0.986000	0.45419	0.867000	0.49689	0.163000	0.16520	-0.472000	0.06881	-1.298000	0.01336	ACG	.		0.632	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796	
TRBV5-1	28614	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	142020924	142020924	+	RNA	SNP	C	C	G			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr7:142020924C>G	ENST00000390381.3	+	0	340									T cell receptor beta variable 5-1																		TTGGGTGCTGCTTTGTCTCCT	0.592																																					.													.	.	.	0			.						.						42.0	45.0	44.0					7																	142020924		2045	4192	6237			0	.			GTGCTGCTTTGTC	L36092		7q34	2012-02-07			ENSG00000211734	ENSG00000211734		"""T cell receptors / TRB locus"""	12218	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV51, TCRBV5S1, TCRBV5S1A1T			OTTHUMG00000158520		7.37:g.142020924C>G		Somatic	25	0		WXS	Illumina GAIIx	Phase_I	25	5	.		RNA	SNP	ENST00000390381.3	37																																																																																				.		0.592	TRBV5-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351226.1	NG_001333	
CD72	971	broad.mit.edu;bcgsc.ca	37	9	35615948	35615948	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr9:35615948C>T	ENST00000396757.1	-	6	844	c.680G>A	c.(679-681)gGc>gAc	p.G227D	CD72_ENST00000259633.4_Missense_Mutation_p.G227D|CD72_ENST00000490239.1_5'UTR			P21854	CD72_HUMAN	CD72 molecule	227					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACCTGCTGAGCCGCATGTGAA	0.557																																					p.G227D													.	CD72	20	0			c.G680A						.						128.0	110.0	116.0					9																	35615948		2203	4300	6503	SO:0001583	missense	971	exon5			GCTGAGCCGCATG		CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"""CD molecules"""	1696	protein-coding gene	gene with protein product		107272	"""CD72 antigen"""			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.680G>A	9.37:g.35615948C>T	ENSP00000379980:p.Gly227Asp	Somatic	19	0		WXS	Illumina GAIIx	Phase_I	13	3	NM_001782		Missense_Mutation	SNP	ENST00000396757.1	37	CCDS6581.1	.	.	.	.	.	.	.	.	.	.	C	0.069	-1.205588	0.01568	.	.	ENSG00000137101	ENST00000396757;ENST00000396759;ENST00000259633	T;T	0.40756	1.02;1.02	4.68	0.646	0.17789	C-type lectin-like (1);	1.922620	0.02954	N	0.142159	T	0.20659	0.0497	N	0.08118	0	0.09310	N	1	B;B	0.20887	0.049;0.049	B;B	0.20384	0.029;0.029	T	0.13335	-1.0513	10	0.09084	T	0.74	2.2332	3.5036	0.07683	0.0844:0.1494:0.4692:0.297	.	227;227	Q5TLG3;P21854	.;CD72_HUMAN	D	227	ENSP00000379980:G227D;ENSP00000259633:G227D	ENSP00000259633:G227D	G	-	2	0	CD72	35605948	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.184000	0.16939	-0.074000	0.12820	-1.478000	0.00992	GGC	.		0.557	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052336.1	NM_001782	
ID3	3399	ucsc.edu;bcgsc.ca	37	1	23885891	23885891	+	Silent	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr1:23885891G>T	ENST00000374561.5	-	1	394	c.27C>A	c.(25-27)ggC>ggA	p.G9G	ID3_ENST00000486541.1_5'UTR	NM_002167.4	NP_002158.3	Q02535	ID3_HUMAN	inhibitor of DNA binding 3, dominant negative helix-loop-helix protein	9					central nervous system development (GO:0007417)|epithelial cell differentiation (GO:0030855)|heart development (GO:0007507)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|notochord development (GO:0030903)|odontogenesis (GO:0042476)|positive regulation of apoptotic process (GO:0043065)|regulation of cell cycle (GO:0051726)|regulation of DNA replication (GO:0006275)|response to wounding (GO:0009611)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|lung(3)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CCTCGTAGCAGCCGCGCACCG	0.652																																					p.G9G													.	ID3	29	0			c.C27A						.						19.0	20.0	20.0					1																	23885891		2131	4177	6308	SO:0001819	synonymous_variant	3399	exon1			GTAGCAGCCGCGC	X69111	CCDS237.1	1p36.13-p36.12	2013-05-21			ENSG00000117318	ENSG00000117318		"""Basic helix-loop-helix proteins"""	5362	protein-coding gene	gene with protein product		600277				1628620	Standard	NM_002167		Approved	HEIR-1, bHLHb25	uc001bhh.4	Q02535	OTTHUMG00000003229	ENST00000374561.5:c.27C>A	1.37:g.23885891G>T		Somatic	40	0		WXS	Illumina HiSeq		27	4	NM_002167	A8K1T8|O75641	Silent	SNP	ENST00000374561.5	37	CCDS237.1																																																																																			.		0.652	ID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008904.1	NM_002167	
PLCXD3	345557	ucsc.edu;bcgsc.ca	37	5	41510580	41510580	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr5:41510580C>T	ENST00000377801.3	-	1	123	c.49G>A	c.(49-51)Gca>Aca	p.A17T	PLCXD3_ENST00000328457.3_Missense_Mutation_p.A17T			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	17					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGCAGAGTTGCCATCCAGTCG	0.657																																					p.A17T													.	PLCXD3	86	0			c.G49A						.						52.0	44.0	47.0					5																	41510580		2203	4300	6503	SO:0001583	missense	345557	exon1			GAGTTGCCATCCA		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.49G>A	5.37:g.41510580C>T	ENSP00000367032:p.Ala17Thr	Somatic	29	0		WXS	Illumina HiSeq		24	4	NM_001005473	A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.218482	0.39201	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	4.57	4.57	0.56435	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.179111	0.48286	D	0.000185	T	0.47673	0.1458	L	0.28274	0.84	0.48185	D	0.999603	B	0.11235	0.004	B	0.04013	0.001	T	0.40156	-0.9578	9	0.11794	T	0.64	-5.1155	16.2935	0.82761	0.0:1.0:0.0:0.0	.	17	Q63HM9	PLCX3_HUMAN	T	17	.	ENSP00000333751:A17T	A	-	1	0	PLCXD3	41546337	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.686000	0.54685	2.387000	0.81309	0.555000	0.69702	GCA	.		0.657	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875	
NAV2	89797	ucsc.edu	37	11	19970265	19970265	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr11:19970265G>T	ENST00000396087.3	+	11	2452	c.2353G>T	c.(2353-2355)Gtc>Ttc	p.V785F	NAV2_ENST00000527559.2_Missense_Mutation_p.V714F|NAV2_ENST00000540292.1_Missense_Mutation_p.V716F|NAV2_ENST00000349880.4_Missense_Mutation_p.V762F|NAV2_ENST00000360655.4_Missense_Mutation_p.V698F|NAV2_ENST00000396085.1_Missense_Mutation_p.V762F	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	785					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)			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						TGACACCAATGTCACCACGGA	0.493																																					p.V785F													.	NAV2	255	0			c.G2353T						.						74.0	67.0	69.0					11																	19970265		2199	4293	6492	SO:0001583	missense	89797	exon11			ACCAATGTCACCA	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.2353G>T	11.37:g.19970265G>T	ENSP00000379396:p.Val785Phe	Somatic	46	0		WXS	Illumina HiSeq		39	4	NM_001244963	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019850	0.54576	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42;2.42	5.42	3.57	0.40892	.	0.106319	0.41294	D	0.000915	T	0.32734	0.0839	L	0.50333	1.59	0.80722	D	1	D;D	0.71674	0.998;0.994	D;D	0.74674	0.984;0.931	T	0.01269	-1.1400	9	.	.	.	.	12.3522	0.55155	0.1378:0.0:0.8622:0.0	.	762;698	Q8IVL1-3;Q8IVL1-4	.;.	F	698;762;762;785;714;716	ENSP00000353871:V698F;ENSP00000379394:V762F;ENSP00000309577:V762F;ENSP00000379396:V785F;ENSP00000435395:V714F;ENSP00000443489:V716F	.	V	+	1	0	NAV2	19926841	1.000000	0.71417	0.880000	0.34516	0.418000	0.31294	4.549000	0.60726	0.789000	0.33779	-0.222000	0.12452	GTC	.		0.493	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	
SLC38A6	145389	ucsc.edu;bcgsc.ca	37	14	61504396	61504396	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr14:61504396C>A	ENST00000267488.4	+	8	735	c.619C>A	c.(619-621)Ctt>Att	p.L207I	SLC38A6_ENST00000456840.2_Missense_Mutation_p.L184I|SLC38A6_ENST00000354886.2_Missense_Mutation_p.L207I	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	207					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		GTTCTTTGCTCTTGTGGTAAG	0.294																																					p.L207I													.	SLC38A6	87	0			c.C619A						.						136.0	130.0	132.0					14																	61504396		2195	4294	6489	SO:0001583	missense	145389	exon8			TTTGCTCTTGTGG	AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"""Solute carriers"""	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335	ENST00000267488.4:c.619C>A	14.37:g.61504396C>A	ENSP00000267488:p.Leu207Ile	Somatic	53	0		WXS	Illumina HiSeq		34	4	NM_153811	C9JWA6|Q86SY5	Missense_Mutation	SNP	ENST00000267488.4	37	CCDS9751.1	.	.	.	.	.	.	.	.	.	.	C	2.398	-0.338374	0.05243	.	.	ENSG00000139974	ENST00000354886;ENST00000267488;ENST00000451406;ENST00000456840	T;T;T;T	0.02369	4.32;4.32;4.32;4.32	5.99	1.82	0.25136	.	0.331621	0.31936	N	0.006828	T	0.01124	0.0037	N	0.03967	-0.31	0.32009	N	0.60232	B;B;B	0.13145	0.007;0.005;0.001	B;B;B	0.13407	0.007;0.004;0.009	T	0.43589	-0.9382	10	0.02654	T	1	-2.7693	7.1188	0.25431	0.1164:0.4831:0.337:0.0635	.	184;207;207	E7ETF2;Q8IZM9-2;Q8IZM9	.;.;S38A6_HUMAN	I	207;207;202;184	ENSP00000346959:L207I;ENSP00000267488:L207I;ENSP00000395851:L202I;ENSP00000413863:L184I	ENSP00000267488:L207I	L	+	1	0	SLC38A6	60574149	0.894000	0.30519	0.996000	0.52242	0.994000	0.84299	0.113000	0.15499	0.832000	0.34804	0.655000	0.94253	CTT	.		0.294	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1		
AC109829.1	0	bcgsc.ca	37	2	27789781	27789781	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr2:27789781T>G	ENST00000447166.1	+	5	595	c.554T>G	c.(553-555)cTt>cGt	p.L185R																								CTGTCTCATCTTCCTGTCTTT	0.423																																					.													.	.	.	0			.						.																																			SO:0001583	missense	0	.			CTCATCTTCCTGT																												ENST00000447166.1:c.554T>G	2.37:g.27789781T>G	ENSP00000403181:p.Leu185Arg	Somatic	28	0		WXS	Illumina HiSeq	Phase_1	19	7	.		Missense_Mutation	SNP	ENST00000447166.1	37		.	.	.	.	.	.	.	.	.	.	T	6.216	0.408041	0.11754	.	.	ENSG00000233438	ENST00000447166	.	.	.	5.28	1.46	0.22682	.	.	.	.	.	T	0.45316	0.1336	.	.	.	.	.	.	.	.	.	.	.	.	T	0.54556	-0.8276	4	0.87932	D	0	.	4.8989	0.13764	0.0:0.1763:0.1605:0.6631	.	.	.	.	R	185	.	ENSP00000403181:L185R	L	+	2	0	AC109829.1	27643285	0.000000	0.05858	0.022000	0.16811	0.178000	0.23041	-0.277000	0.08502	0.391000	0.25143	0.491000	0.48974	CTT	.		0.423	AC109829.1-001	PUTATIVE	mRNA_end_NF|cds_end_NF|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000324535.2		
POTEKP	440915	bcgsc.ca	37	2	132369152	132369152	+	IGR	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr2:132369152G>T								RNU6-617P (8683 upstream) : LINC01087 (25445 downstream)																							AAGTACTCATGTGGGATTCCC	0.413																																					.													.	.	.	0			.						.																																			SO:0001628	intergenic_variant	440915	.			ACTCATGTGGGAT																													2.37:g.132369152G>T		Somatic	195	0		WXS	Illumina HiSeq	Phase_1	145	5	.		RNA	SNP		37																																																																																				.	0	0.413								
ECM2	1842	bcgsc.ca	37	9	95264897	95264897	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr9:95264897G>T	ENST00000344604.5	-	8	1651	c.1502C>A	c.(1501-1503)aCt>aAt	p.T501N	ECM2_ENST00000444490.2_Missense_Mutation_p.T479N|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	501					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						ACAAATTTCAGTTATTTCTTC	0.279																																					p.T501N													.	ECM2	147	0			c.C1502A						.						104.0	105.0	104.0					9																	95264897		2202	4299	6501	SO:0001583	missense	1842	exon8			ATTTCAGTTATTT	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.1502C>A	9.37:g.95264897G>T	ENSP00000344758:p.Thr501Asn	Somatic	39	0		WXS	Illumina HiSeq	Phase_1	33	3	NM_001393	B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206208	0.58343	.	.	ENSG00000106823	ENST00000444490;ENST00000344604	T;T	0.57107	1.88;0.42	5.81	2.77	0.32553	.	0.412588	0.29900	N	0.010914	T	0.34745	0.0908	N	0.16833	0.445	0.31202	N	0.699638	B;P;P	0.45428	0.452;0.858;0.696	P;B;P	0.45794	0.493;0.424;0.454	T	0.27502	-1.0072	10	0.21014	T	0.42	.	6.2401	0.20785	0.0643:0.1182:0.573:0.2445	.	501;479;479	O94769;B4DK93;O94769-2	ECM2_HUMAN;.;.	N	479;501	ENSP00000393971:T479N;ENSP00000344758:T501N	ENSP00000344758:T501N	T	-	2	0	ECM2	94304718	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.389000	0.59639	0.898000	0.36418	-0.187000	0.12897	ACT	.		0.279	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393	
KIAA1958	158405	bcgsc.ca	37	9	115337025	115337025	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr9:115337025G>T	ENST00000337530.6	+	2	961	c.665G>T	c.(664-666)gGa>gTa	p.G222V	KIAA1958_ENST00000536272.1_Missense_Mutation_p.G222V|KIAA1958_ENST00000374244.3_Missense_Mutation_p.G222V	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	222										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CTGACAGGAGGAGTAGATGGA	0.473																																					p.G222V													.	KIAA1958	52	0			c.G665T						.						117.0	105.0	109.0					9																	115337025		2203	4300	6503	SO:0001583	missense	158405	exon2			CAGGAGGAGTAGA	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.665G>T	9.37:g.115337025G>T	ENSP00000336940:p.Gly222Val	Somatic	22	0		WXS	Illumina HiSeq	Phase_1	14	3	NM_133465	B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.335410	0.60853	.	.	ENSG00000165185	ENST00000337530;ENST00000374244;ENST00000536272	T;T;T	0.41065	1.01;1.01;1.01	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000001	T	0.52933	0.1765	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.982;0.998	T	0.49163	-0.8968	10	0.38643	T	0.18	-11.5346	20.6439	0.99570	0.0:0.0:1.0:0.0	.	222;222	B7ZKW6;Q8N8K9	.;K1958_HUMAN	V	222	ENSP00000336940:G222V;ENSP00000363362:G222V;ENSP00000440504:G222V	ENSP00000336940:G222V	G	+	2	0	KIAA1958	114376846	1.000000	0.71417	0.991000	0.47740	0.788000	0.44548	5.404000	0.66344	2.884000	0.98904	0.655000	0.94253	GGA	.		0.473	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465	
TPP1	1200	bcgsc.ca	37	11	6638859	6638859	+	Silent	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr11:6638859G>T	ENST00000299427.6	-	4	438	c.378C>A	c.(376-378)atC>atA	p.I126I	TPP1_ENST00000534644.1_5'UTR|TPP1_ENST00000533371.1_5'UTR|RP11-732A19.9_ENST00000545572.1_RNA	NM_000391.3	NP_000382.3	P49638	TTPA_HUMAN	tripeptidyl peptidase I	0	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	Vitamin E(DB00163)	CCTCTCACCGGATGCTCAGCC	0.567																																					p.I126I													.	TPP1	71	0			c.C378A						.						121.0	112.0	115.0					11																	6638859		2201	4296	6497	SO:0001819	synonymous_variant	1200	exon4			TCACCGGATGCTC	AF017456	CCDS7770.1	11p15.4	2014-09-17	2004-12-09	2004-12-10	ENSG00000166340	ENSG00000166340			2073	protein-coding gene	gene with protein product	"""TPP I"""	607998	"""ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)"", ""spinocerebellar ataxia, autosomal recessive 7"""	CLN2, SCAR7		9653647, 23418007	Standard	NM_000391		Approved		uc001mel.1	O14773	OTTHUMG00000133404	ENST00000299427.6:c.378C>A	11.37:g.6638859G>T		Somatic	18	0		WXS	Illumina HiSeq	Phase_1	13	3	NM_000391	Q71V64	Silent	SNP	ENST00000299427.6	37	CCDS7770.1																																																																																			.		0.567	TPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257261.2		
Unknown	0	bcgsc.ca	37	13	68476737	68476737	+	IGR	SNP	C	C	A	rs574399461		TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr13:68476737C>A								LINC00364 (522629 upstream) : RN7SL761P (791200 downstream)																							CTCCTGACTGCGATGGCCTAT	0.488																																					.													.	.	.	0			.						.																																			SO:0001628	intergenic_variant	81136	.			TGACTGCGATGGC																													13.37:g.68476737C>A		Somatic	75	0		WXS	Illumina HiSeq	Phase_1	52	17	.		RNA	SNP		37																																																																																				.	0	0.488								
TSHZ2	128553	bcgsc.ca	37	20	51872335	51872335	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr20:51872335G>T	ENST00000371497.5	+	2	3225	c.2338G>T	c.(2338-2340)Gca>Tca	p.A780S	TSHZ2_ENST00000603338.2_Missense_Mutation_p.A777S|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.A777S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	780					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)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GTCCTCGCAAGCACAATCTTG	0.562																																					p.A780S													TSHZ2,NS,carcinoma,-1,1	TSHZ2	209	0			c.G2338T						.						112.0	106.0	108.0					20																	51872335		2203	4300	6503	SO:0001583	missense	128553	exon2			TCGCAAGCACAAT	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2338G>T	20.37:g.51872335G>T	ENSP00000360552:p.Ala780Ser	Somatic	28	0		WXS	Illumina HiSeq	Phase_1	20	3	NM_173485	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297583	0.40694	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.15017	2.46;2.46	5.09	5.09	0.68999	.	0.122273	0.56097	D	0.000029	T	0.24392	0.0591	L	0.60455	1.87	0.44798	D	0.997801	D	0.53151	0.958	P	0.45276	0.475	T	0.02020	-1.1228	10	0.33940	T	0.23	-6.3838	18.4935	0.90855	0.0:0.0:1.0:0.0	.	780	Q9NRE2	TSH2_HUMAN	S	780;777;306	ENSP00000360552:A780S;ENSP00000333114:A777S	ENSP00000333114:A777S	A	+	1	0	TSHZ2	51305742	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.206000	0.51098	2.349000	0.79799	0.579000	0.79373	GCA	.		0.562	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485	
TTC3	7267	bcgsc.ca	37	21	38470262	38470262	+	Intron	SNP	G	G	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr21:38470262G>T	ENST00000399017.2	+	10	3592				TTC3_ENST00000355666.1_Intron|AP001429.1_ENST00000602568.1_RNA|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000354749.2_Intron|TTC3_ENST00000479930.1_Intron|TTC3_ENST00000399010.1_Missense_Mutation_p.R298I	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3						negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				agtttaaaaagaagaaaataa	0.328																																					.	Ovarian(38;194 1649 35661)												.	TTC3	182	0			.						.																																			SO:0001627	intron_variant	7267	.			TAAAAAGAAGAAA	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.845+1319G>T	21.37:g.38470262G>T		Somatic	32	0		WXS	Illumina HiSeq	Phase_1	24	4	.	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.921068	0.52653	.	.	ENSG00000182670	ENST00000399010	.	.	.	3.65	3.65	0.41850	.	.	.	.	.	T	0.66829	0.2829	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70454	-0.4867	5	0.87932	D	0	.	11.1708	0.48571	0.0:0.0:1.0:0.0	.	.	.	.	I	298	.	ENSP00000381974:R298I	R	+	2	0	TTC3	37392132	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.464000	0.53057	2.352000	0.79861	0.655000	0.94253	AGA	.		0.328	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1		
ZDHHC8	29801	bcgsc.ca	37	22	20137749	20137749	+	IGR	SNP	C	C	T			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chr22:20137749C>T	ENST00000334554.7	+	0	5046				AC006547.14_ENST00000540078.1_Missense_Mutation_p.E113K	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8						locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CCCAGCTGCTCCCGAAGTTCC	0.687																																					.													.	.	.	0			.						.																																			SO:0001628	intergenic_variant	0	.			GCTGCTCCCGAAG	AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"""Zinc fingers, DHHC-type"""	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499		22.37:g.20137749C>T		Somatic	44	0		WXS	Illumina HiSeq	Phase_1	44	7	.	Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Missense_Mutation	SNP	ENST00000334554.7	37	CCDS13776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	8.210|8.210	0.800083|0.800083	0.16397|0.16397	.|.	.|.	ENSG00000234409|ENSG00000234409	ENST00000540078|ENST00000439765	T|.	0.25085|.	1.82|.	3.47|3.47	2.45|2.45	0.29901|0.29901	.|.	.|.	.|.	.|.	.|.	T|T	0.41465|0.41465	0.1160|0.1160	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.49872|0.49872	-0.8893|-0.8893	5|3	0.87932|.	D|.	0|.	.|.	7.0463|7.0463	0.25048|0.25048	0.0:0.8741:0.0:0.1259|0.0:0.8741:0.0:0.1259	.|.	.|.	.|.	.|.	K|E	113|145	ENSP00000445668:E113K|.	ENSP00000445668:E113K|.	E|G	-|-	1|2	0|0	AC006547.14|AC006547.14	18517749|18517749	0.214000|0.214000	0.23563|0.23563	0.996000|0.996000	0.52242|0.52242	0.089000|0.089000	0.18198|0.18198	0.154000|0.154000	0.16343|0.16343	1.038000|1.038000	0.40049|0.40049	-0.439000|-0.439000	0.05793|0.05793	GAG|GGA	.		0.687	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373	
MAGED1	9500	bcgsc.ca	37	X	51640347	51640347	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA33-01A-11D-A417-09	TCGA-W5-AA33-10A-01D-A41A-09	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f23b3d0d-26a5-4adf-8aec-4994d094465b	02e2d8b9-8b5a-4bae-8615-76c46d68f44c	g.chrX:51640347A>G	ENST00000375722.1	+	5	1718	c.1466A>G	c.(1465-1467)aAg>aGg	p.K489R	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Missense_Mutation_p.K489R|MAGED1_ENST00000326587.7_Missense_Mutation_p.K489R|MAGED1_ENST00000375695.2_Missense_Mutation_p.K545R			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	489	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GACTACACAAAGGTGCCCATC	0.438										Multiple Myeloma(10;0.10)																											p.K545R													.	MAGED1	84	0			c.A1634G						.						103.0	74.0	84.0					X																	51640347		2203	4300	6503	SO:0001583	missense	9500	exon6			ACACAAAGGTGCC	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1466A>G	X.37:g.51640347A>G	ENSP00000364874:p.Lys489Arg	Somatic	33	0		WXS	Illumina HiSeq	Phase_1	22	3	NM_001005333	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	A	15.04	2.716015	0.48622	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.05081	3.5;3.5;3.5;3.5	3.54	3.54	0.40534	.	0.000000	0.39687	N	0.001285	T	0.16811	0.0404	L	0.58583	1.82	0.41391	D	0.98761	D;D	0.67145	0.996;0.979	D;D	0.73708	0.981;0.973	T	0.00573	-1.1664	10	0.54805	T	0.06	.	7.7128	0.28688	1.0:0.0:0.0:0.0	.	545;489	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	R	489;489;489;545	ENSP00000364927:K489R;ENSP00000364874:K489R;ENSP00000325333:K489R;ENSP00000364847:K545R	ENSP00000325333:K489R	K	+	2	0	MAGED1	51657087	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.727000	0.61993	1.634000	0.50500	0.350000	0.21858	AAG	.		0.438	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332	
