#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_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_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
AARS2	57505	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	44270802	44270802	+	Splice_Site	SNP	C	C	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr6:44270802C>A	ENST00000244571.4	-	16	2258		c.e16+1		RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'Flank	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial									p.?(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAGTGACTCACGTCCCACAGC	0.632																																																	1	Unknown(1)	kidney(1)											51.0	55.0	54.0					6																	44270802		2203	4300	6503	SO:0001630	splice_region_variant	57505			AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2255+1G>T	6.37:g.44270802C>A		Somatic		WXS	Illumina HiSeq	Phase_I		Splice_Site	SNP	ENST00000244571.4	37	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.818270	0.90790	.	.	ENSG00000124608	ENST00000244571	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0748	0.93156	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AARS2	44378780	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.337000	0.79256	2.733000	0.93635	0.655000	0.94253	.		0.632	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2		NM_020745	Intron
ACTR8	93973	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	53908276	53908276	+	Silent	SNP	G	G	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr3:53908276G>A	ENST00000335754.3	-	8	1127	c.1027C>T	c.(1027-1029)Ctg>Ttg	p.L343L	ACTR8_ENST00000482349.1_Silent_p.L232L|ACTR8_ENST00000231909.7_Intron	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	343					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.L343L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		AGGTGTTGCAGAAGAAGACAA	0.358																																																	1	Substitution - coding silent(1)	kidney(1)											65.0	65.0	65.0					3																	53908276		2203	4300	6503	SO:0001819	synonymous_variant	93973				CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.1027C>T	3.37:g.53908276G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B3KSW7|Q8N566|Q9H663	Silent	SNP	ENST00000335754.3	37	CCDS2875.1																																																																																				0.358	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2		NM_022899	
ACTR8	93973	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	53908279	53908279	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr3:53908279G>A	ENST00000335754.3	-	8	1124	c.1024C>T	c.(1024-1026)Ctt>Ttt	p.L342F	ACTR8_ENST00000482349.1_Missense_Mutation_p.L231F|ACTR8_ENST00000231909.7_Intron	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	342					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.L342F(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TGTTGCAGAAGAAGACAATCC	0.358																																																	1	Substitution - Missense(1)	kidney(1)											67.0	67.0	67.0					3																	53908279		2203	4300	6503	SO:0001583	missense	93973				CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.1024C>T	3.37:g.53908279G>A	ENSP00000336842:p.Leu342Phe	Somatic		WXS	Illumina HiSeq	Phase_I	B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	ENST00000335754.3	37	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458734	0.84317	.	.	ENSG00000113812	ENST00000335754;ENST00000482349	D;D	0.94966	-3.57;-3.57	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.97451	0.9166	M	0.85777	2.775	0.80722	D	1	D	0.67145	0.996	D	0.74674	0.984	D	0.97871	1.0286	10	0.72032	D	0.01	4.0276	17.9236	0.88975	0.0:0.0:1.0:0.0	.	342	Q9H981	ARP8_HUMAN	F	342;231	ENSP00000336842:L342F;ENSP00000419429:L231F	ENSP00000336842:L342F	L	-	1	0	ACTR8	53883319	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.313000	0.65798	2.655000	0.90218	0.637000	0.83480	CTT		0.358	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2		NM_022899	
PXYLP1	92370	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	141011820	141011820	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr3:141011820G>T	ENST00000286353.4	+	6	1353	c.1216G>T	c.(1216-1218)Gag>Tag	p.E406*	ACPL2_ENST00000502783.1_Nonsense_Mutation_p.E368*|ACPL2_ENST00000504264.1_Nonsense_Mutation_p.E389*|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000508812.1_Nonsense_Mutation_p.E397*|ACPL2_ENST00000393010.2_Nonsense_Mutation_p.E406*|ACPL2_ENST00000393007.1_Nonsense_Mutation_p.E390*	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		406						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)	p.E406*(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						GTTGATCTTTGAGCTTTGGCA	0.507																																																	1	Substitution - Nonsense(1)	kidney(1)											152.0	140.0	144.0					3																	141011820		2203	4300	6503	SO:0001587	stop_gained	92370																														ENST00000286353.4:c.1216G>T	3.37:g.141011820G>T	ENSP00000286353:p.Glu406*	Somatic		WXS	Illumina HiSeq	Phase_I	D3DNF5|Q49AJ2|W0TR04	Nonsense_Mutation	SNP	ENST00000286353.4	37	CCDS3116.1	.	.	.	.	.	.	.	.	.	.	G	38	6.998215	0.97990	.	.	ENSG00000155893	ENST00000286353;ENST00000502783;ENST00000393010;ENST00000504264;ENST00000508812;ENST00000393007	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3907	0.87430	0.0:0.0:1.0:0.0	.	.	.	.	X	406;368;406;389;397;390	.	.	E	+	1	0	ACPL2	142494510	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.480000	0.97931	2.691000	0.91804	0.655000	0.94253	GAG		0.507	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2			
BTBD17	388419	broad.mit.edu;hgsc.bcm.edu	37	17	72353257	72353257	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr17:72353257C>T	ENST00000375366.3	-	3	1102	c.976G>A	c.(976-978)Gtc>Atc	p.V326I		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	326					negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.V326I(1)		endometrium(1)|kidney(1)|lung(4)	6						TTGTTGATGACCCACGGGGCG	0.721																																																	1	Substitution - Missense(1)	kidney(1)											7.0	9.0	8.0					17																	72353257		2132	4179	6311	SO:0001583	missense	388419				CCDS32719.1	17q25.1	2013-01-08			ENSG00000204347	ENSG00000204347		"""BTB/POZ domain containing"""	33758	protein-coding gene	gene with protein product	"""transport and golgi organization 10 homolog A (Drosophila)"""						Standard	NM_001080466		Approved	LGALS3BPL, BTBD17A, TANGO10A	uc002jkn.2	A6NE02	OTTHUMG00000178580	ENST00000375366.3:c.976G>A	17.37:g.72353257C>T	ENSP00000364515:p.Val326Ile	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000375366.3	37	CCDS32719.1	.	.	.	.	.	.	.	.	.	.	C	6.487	0.458063	0.12342	.	.	ENSG00000204347	ENST00000375366	T	0.78126	-1.15	4.99	4.99	0.66335	.	0.215229	0.39909	N	0.001223	T	0.60353	0.2262	N	0.12182	0.205	0.37555	D	0.918854	B	0.17465	0.022	B	0.15052	0.012	T	0.60403	-0.7270	10	0.31617	T	0.26	-29.3385	11.792	0.52075	0.0:0.9184:0.0:0.0816	.	326	A6NE02	BTBDH_HUMAN	I	326	ENSP00000364515:V326I	ENSP00000364515:V326I	V	-	1	0	BTBD17	69864852	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.619000	0.24388	2.329000	0.79093	0.456000	0.33151	GTC		0.721	BTBD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442542.1		NM_001080466	
CD180	4064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	66479404	66479404	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr5:66479404C>T	ENST00000256447.4	-	3	1424	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	CTD-2306M10.1_ENST00000602471.1_lincRNA	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	423					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E423K(1)		cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TCGAGGAGTTCTAGCTGAGGA	0.453																																																	1	Substitution - Missense(1)	kidney(1)											169.0	174.0	172.0					5																	66479404		2203	4300	6503	SO:0001583	missense	4064			D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.1267G>A	5.37:g.66479404C>T	ENSP00000256447:p.Glu423Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B2R7Z7|Q32MM5	Missense_Mutation	SNP	ENST00000256447.4	37	CCDS3992.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370330	0.24771	.	.	ENSG00000134061	ENST00000256447	T	0.55052	0.54	4.81	1.89	0.25635	.	0.076966	0.50627	D	0.000116	T	0.41166	0.1147	L	0.56769	1.78	0.09310	N	0.999997	B	0.27351	0.176	B	0.18871	0.023	T	0.25222	-1.0138	10	0.13853	T	0.58	.	9.5421	0.39257	0.0:0.4284:0.491:0.0806	.	423	Q99467	CD180_HUMAN	K	423	ENSP00000256447:E423K	ENSP00000256447:E423K	E	-	1	0	CD180	66515160	0.036000	0.19791	0.001000	0.08648	0.734000	0.41952	0.539000	0.23175	0.161000	0.19458	0.563000	0.77884	GAA		0.453	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2		NM_005582	
CDCA7	83879	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	174223477	174223477	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr2:174223477T>A	ENST00000347703.3	+	2	203	c.59T>A	c.(58-60)tTc>tAc	p.F20Y	CDCA7_ENST00000306721.3_Missense_Mutation_p.F20Y|CDCA7_ENST00000392567.2_Missense_Mutation_p.F20Y|AC092573.2_ENST00000437243.1_RNA|CDCA7_ENST00000410101.3_Missense_Mutation_p.F20Y|CDCA7_ENST00000410019.3_Intron	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	20					apoptotic process (GO:0006915)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.F20Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			TTAAAGAAATTCAGATATGTG	0.368																																																	1	Substitution - Missense(1)	kidney(1)											80.0	85.0	83.0					2																	174223477		2203	4300	6503	SO:0001583	missense	83879			BG354580	CCDS2252.1, CCDS2253.1	2q31.1	2008-02-05			ENSG00000144354	ENSG00000144354			14628	protein-coding gene	gene with protein product		609937				11598121, 12188893	Standard	NM_145810		Approved	FLJ14736, JPO1	uc002uic.1	Q9BWT1	OTTHUMG00000132296	ENST00000347703.3:c.59T>A	2.37:g.174223477T>A	ENSP00000272789:p.Phe20Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Missense_Mutation	SNP	ENST00000347703.3	37	CCDS2253.1	.	.	.	.	.	.	.	.	.	.	T	11.67	1.708434	0.30322	.	.	ENSG00000144354	ENST00000347703;ENST00000392567;ENST00000306721;ENST00000410101	T;T;T;T	0.54479	0.7;0.57;0.71;0.69	5.77	5.77	0.91146	.	0.149132	0.64402	D	0.000009	T	0.37892	0.1020	N	0.11560	0.145	0.21861	N	0.999501	B;B;P	0.43477	0.012;0.008;0.808	B;B;B	0.40375	0.007;0.008;0.327	T	0.42224	-0.9464	10	0.72032	D	0.01	-12.279	16.099	0.81152	0.0:0.0:0.0:1.0	.	20;20;20	B4DV66;Q9BWT1;Q9BWT1-2	.;CDCA7_HUMAN;.	Y	20	ENSP00000272789:F20Y;ENSP00000376348:F20Y;ENSP00000306968:F20Y;ENSP00000386656:F20Y	ENSP00000306968:F20Y	F	+	2	0	CDCA7	173931723	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.155000	0.58131	2.203000	0.70933	0.533000	0.62120	TTC		0.368	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255400.1		NM_031942	
CDK3	1018	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	73998146	73998146	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr17:73998146T>A	ENST00000425876.2	+	3	326	c.238T>A	c.(238-240)Ttt>Att	p.F80I	TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Missense_Mutation_p.F80I			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	80	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.F80I(1)		central_nervous_system(1)	1						CTATCTGGTGTTTGAGTTCCT	0.577																																																	1	Substitution - Missense(1)	kidney(1)											130.0	108.0	116.0					17																	73998146		2203	4300	6503	SO:0001583	missense	1018			X66357	CCDS11736.1	17q25.1	2012-09-20			ENSG00000250506	ENSG00000250506		"""Cyclin-dependent kinases"""	1772	protein-coding gene	gene with protein product		123828				1639063	Standard	NM_001258		Approved		uc010dgt.3	Q00526	OTTHUMG00000154861	ENST00000425876.2:c.238T>A	17.37:g.73998146T>A	ENSP00000410561:p.Phe80Ile	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000425876.2	37	CCDS11736.1	.	.	.	.	.	.	.	.	.	.	T	19.81	3.895969	0.72639	.	.	ENSG00000250506	ENST00000448471;ENST00000425876	T;T	0.65549	-0.16;-0.16	5.29	4.14	0.48551	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000029	T	0.75932	0.3917	M	0.74546	2.27	0.50039	D	0.999847	D	0.89917	1.0	D	0.81914	0.995	T	0.78602	-0.2140	10	0.87932	D	0	-24.2467	10.3923	0.44179	0.1462:0.0:0.0:0.8538	.	80	Q00526	CDK3_HUMAN	I	80	ENSP00000400088:F80I;ENSP00000410561:F80I	ENSP00000410561:F80I	F	+	1	0	CDK3	71509741	1.000000	0.71417	1.000000	0.80357	0.363000	0.29612	5.049000	0.64244	2.005000	0.58758	0.533000	0.62120	TTT		0.577	CDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337389.2		NM_001258	
CLEC2D	29121	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	9822375	9822375	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr12:9822375A>C	ENST00000290855.6	+	1	67	c.45A>C	c.(43-45)gaA>gaC	p.E15D	CLEC2D_ENST00000261340.7_Missense_Mutation_p.E15D|CLEC2D_ENST00000487752.1_Intron|CLEC2D_ENST00000545918.1_Missense_Mutation_p.E15D|CLEC2D_ENST00000543300.1_Missense_Mutation_p.E15D|CLEC2D_ENST00000261339.6_Missense_Mutation_p.E15D	NM_013269.5	NP_037401.1	Q9UHP7	CLC2D_HUMAN	C-type lectin domain family 2, member D	15					cell surface receptor signaling pathway (GO:0007166)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.E15D(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|stomach(1)	9						CACCATCTGAATTGCCTGCAA	0.463																																																	2	Substitution - Missense(2)	kidney(2)											115.0	96.0	102.0					12																	9822375		2203	4300	6503	SO:0001583	missense	29121			AF133299	CCDS8602.1, CCDS31741.1, CCDS55800.1, CCDS55801.1, CCDS55802.1	12p13.31	2011-05-24	2005-09-29		ENSG00000069493	ENSG00000069493		"""C-type lectin domain containing"""	14351	protein-coding gene	gene with protein product	"""C-type lectin related f"", ""lectin-like transcript 1"""	605659	"""C-type lectin superfamily 2, member D"""				Standard	NM_013269		Approved	LLT1, CLAX, OCIL	uc001qwf.3	Q9UHP7	OTTHUMG00000168369	ENST00000290855.6:c.45A>C	12.37:g.9822375A>C	ENSP00000290855:p.Glu15Asp	Somatic		WXS	Illumina HiSeq	Phase_I	D6CI39|D6CI40|D6CI41|Q6YID5|Q8WUP7|Q9HD37|Q9HD38	Missense_Mutation	SNP	ENST00000290855.6	37	CCDS8602.1	.	.	.	.	.	.	.	.	.	.	A	0.993	-0.693274	0.03303	.	.	ENSG00000069493	ENST00000261340;ENST00000290855;ENST00000545918;ENST00000543300;ENST00000261339;ENST00000466035	T;T;T;T;T;T	0.11930	4.38;4.57;2.75;2.73;4.41;4.34	1.84	-0.728	0.11162	.	.	.	.	.	T	0.05593	0.0147	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.42481	-0.9449	8	.	.	.	-2.819	2.4857	0.04598	0.5236:0.2927:0.1837:0.0	.	15;15	Q9UHP7;Q9UHP7-3	CLC2D_HUMAN;.	D	15;15;15;15;15;9	ENSP00000261340:E15D;ENSP00000290855:E15D;ENSP00000444818:E15D;ENSP00000443065:E15D;ENSP00000261339:E15D;ENSP00000446028:E9D	.	E	+	3	2	CLEC2D	9713642	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.455000	0.06762	-0.192000	0.10432	-0.456000	0.05471	GAA		0.463	CLEC2D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000335424.2		NM_013269	
CLN8	2055	broad.mit.edu;ucsc.edu	37	8	1728427	1728427	+	Silent	SNP	C	C	G	rs145929862		TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr8:1728427C>G	ENST00000331222.4	+	3	802	c.555C>G	c.(553-555)tcC>tcG	p.S185S	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	185	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.S185S(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		CGGGCTGGTCCGAGTCTCTGT	0.463																																					Pancreas(155;338 1942 6138 10888 50612)												2	Substitution - coding silent(2)	kidney(2)											127.0	99.0	108.0					8																	1728427		2203	4300	6503	SO:0001819	synonymous_variant	2055			AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"""chromosome 8 open reading frame 61"""	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.555C>G	8.37:g.1728427C>G		Somatic		WXS	Illumina GAIIx	Phase_I	Q86U71|Q96I95	Silent	SNP	ENST00000331222.4	37	CCDS5956.1																																																																																				0.463	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2		NM_018941	
COL4A2	1284	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	111102707	111102707	+	Silent	SNP	C	C	A	rs367980559		TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr13:111102707C>A	ENST00000360467.5	+	20	1551	c.1245C>A	c.(1243-1245)ccC>ccA	p.P415P		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	415	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.P415P(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TCGGAGACCCCGGCATCCCTG	0.637																																																	1	Substitution - coding silent(1)	kidney(1)											47.0	52.0	50.0					13																	111102707		1894	4120	6014	SO:0001819	synonymous_variant	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1245C>A	13.37:g.111102707C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	CCDS41907.1																																																																																				0.637	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2		NM_001846	
CRTC1	23373	broad.mit.edu;hgsc.bcm.edu	37	19	18886547	18886547	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr19:18886547C>A	ENST00000321949.8	+	13	1635	c.1609C>A	c.(1609-1611)Ctc>Atc	p.L537I	CRTC1_ENST00000594658.1_Missense_Mutation_p.L496I|CRTC1_ENST00000338797.6_Missense_Mutation_p.L553I|CRTC1_ENST00000601916.1_Missense_Mutation_p.L295I	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1									p.L537I(1)|p.L553I(1)	CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CATGATGGGCCTCACGGGCAG	0.642																																																	2	Substitution - Missense(2)	kidney(2)											40.0	41.0	41.0					19																	18886547		2202	4299	6501	SO:0001583	missense	23373			AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1609C>A	19.37:g.18886547C>A	ENSP00000323332:p.Leu537Ile	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000321949.8	37	CCDS32963.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884132	0.51908	.	.	ENSG00000105662	ENST00000262813;ENST00000338797;ENST00000321949	T;T	0.17528	2.27;2.27	3.51	1.27	0.21489	.	0.080401	0.49916	D	0.000121	T	0.25082	0.0609	L	0.34521	1.04	0.42739	D	0.993735	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.87578	0.991;0.998;0.976	T	0.01537	-1.1330	10	0.45353	T	0.12	-22.0877	8.5662	0.33540	0.0:0.8002:0.0:0.1998	.	508;553;537	Q6UUV9-3;Q6UUV9-2;Q6UUV9	.;.;CRTC1_HUMAN	I	508;553;537	ENSP00000345001:L553I;ENSP00000323332:L537I	ENSP00000262813:L508I	L	+	1	0	CRTC1	18747547	0.972000	0.33761	0.751000	0.31187	0.993000	0.82548	2.370000	0.44240	0.699000	0.31761	0.462000	0.41574	CTC		0.642	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3		NM_025021	
DCAF8L2	347442	broad.mit.edu;ucsc.edu	37	X	27766433	27766433	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chrX:27766433G>T	ENST00000451261.2	+	5	1820	c.1421G>T	c.(1420-1422)gGt>gTt	p.G474V		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	474								p.G441V(1)		central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						ACAGTCAAAGGTGTTAATTTC	0.428																																																	1	Substitution - Missense(1)	kidney(1)											77.0	53.0	60.0					X																	27766433		692	1591	2283	SO:0001583	missense	347442				CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1421G>T	X.37:g.27766433G>T	ENSP00000462745:p.Gly474Val	Somatic		WXS	Illumina GAIIx	Phase_I	B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	CCDS59162.1																																																																																				0.428	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4		XM_293354	
DDX53	168400	broad.mit.edu;hgsc.bcm.edu	37	X	23018221	23018221	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chrX:23018221G>A	ENST00000327968.5	+	1	135	c.47G>A	c.(46-48)aGa>aAa	p.R16K	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	16						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)	p.R16K(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GCTAATCCAAGAGACCTTGGG	0.627																																																	1	Substitution - Missense(1)	kidney(1)											40.0	33.0	35.0					X																	23018221		2202	4300	6502	SO:0001583	missense	168400			AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.47G>A	X.37:g.23018221G>A	ENSP00000368667:p.Arg16Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.200939	0.38905	.	.	ENSG00000184735	ENST00000327968	T	0.19669	2.13	4.26	2.45	0.29901	.	0.577856	0.12428	U	0.469839	T	0.19565	0.0470	L	0.58101	1.795	0.09310	N	1	B	0.22909	0.077	B	0.17722	0.019	T	0.20605	-1.0270	10	0.41790	T	0.15	.	6.3688	0.21469	0.2498:0.0:0.7502:0.0	.	16	Q86TM3	DDX53_HUMAN	K	16	ENSP00000368667:R16K	ENSP00000368667:R16K	R	+	2	0	DDX53	22928142	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.931000	0.28871	0.357000	0.24183	0.600000	0.82982	AGA		0.627	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1		NM_182699	
DDX3X	1654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	41203496	41203496	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chrX:41203496C>T	ENST00000399959.2	+	10	1724	c.869C>T	c.(868-870)tCa>tTa	p.S290L	RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_Silent_p.F305F|DDX3X_ENST00000457138.2_Missense_Mutation_p.S274L|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	290	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with GSK3B.|Necessary for interaction with XPO1.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)	p.S290L(1)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TTATAGTTTTCATACCGATCT	0.353										HNSCC(61;0.18)																																							1	Substitution - Missense(1)	kidney(1)											167.0	155.0	159.0					X																	41203496		2203	4300	6503	SO:0001583	missense	1654			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.869C>T	X.37:g.41203496C>T	ENSP00000382840:p.Ser290Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	c	35	5.543316	0.96474	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.03951	3.75;3.75	5.71	5.71	0.89125	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.269977	0.37809	N	0.001938	T	0.14056	0.0340	L	0.38531	1.155	0.80722	D	1	P;P;P;D;D	0.56521	0.952;0.763;0.902;0.976;0.976	P;P;P;P;P	0.61477	0.775;0.452;0.452;0.889;0.889	T	0.00510	-1.1697	10	0.87932	D	0	-19.2378	18.8917	0.92407	0.0:1.0:0.0:0.0	.	290;274;290;302;290	B4DLU5;B4E3E8;B5BTY4;Q59GX6;O00571	.;.;.;.;DDX3X_HUMAN	L	290;274	ENSP00000382840:S290L;ENSP00000392494:S274L	ENSP00000382840:S290L	S	+	2	0	DDX3X	41088440	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.770000	0.85390	2.408000	0.81797	0.597000	0.82753	TCA		0.353	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1		NM_024005	
FNDC4	64838	broad.mit.edu;hgsc.bcm.edu	37	2	27716993	27716993	+	Silent	SNP	A	A	G			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr2:27716993A>G	ENST00000264703.3	-	4	649	c.258T>C	c.(256-258)aaT>aaC	p.N86N	GCKR_ENST00000424318.2_5'Flank|GCKR_ENST00000264717.2_5'Flank	NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	86	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N86N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					GCCCGGGGCCATTCTGCCGCT	0.632																																																	1	Substitution - coding silent(1)	kidney(1)											19.0	22.0	21.0					2																	27716993		2203	4299	6502	SO:0001819	synonymous_variant	64838			AK026015	CCDS1756.1	2p23.3	2013-02-11			ENSG00000115226	ENSG00000115226		"""Fibronectin type III domain containing"""	20239	protein-coding gene	gene with protein product		611905				12384288	Standard	NM_022823		Approved	FLJ22362, FRCP1	uc002rkx.3	Q9H6D8	OTTHUMG00000097787	ENST00000264703.3:c.258T>C	2.37:g.27716993A>G		Somatic		WXS	Illumina HiSeq	Phase_I	D6W560	Silent	SNP	ENST00000264703.3	37	CCDS1756.1																																																																																				0.632	FNDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215031.1		NM_022823	
GABRG2	2566	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	161520982	161520982	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr5:161520982G>T	ENST00000361925.4	+	2	476	c.256G>T	c.(256-258)Gga>Tga	p.G86*	GABRG2_ENST00000356592.3_Nonsense_Mutation_p.G86*|GABRG2_ENST00000393933.4_5'UTR|GABRG2_ENST00000414552.2_Nonsense_Mutation_p.G86*			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	86					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.G86*(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCCTGATATAGGAGGTTTGTT	0.388																																																	1	Substitution - Nonsense(1)	kidney(1)											135.0	131.0	132.0					5																	161520982		2203	4300	6503	SO:0001587	stop_gained	2566				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.256G>T	5.37:g.161520982G>T	ENSP00000354651:p.Gly86*	Somatic		WXS	Illumina HiSeq	Phase_I	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Nonsense_Mutation	SNP	ENST00000361925.4	37	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	G	41	8.628359	0.98890	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925	.	.	.	5.82	5.82	0.92795	.	0.155743	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1086	0.97902	0.0:0.0:1.0:0.0	.	.	.	.	X	86	.	ENSP00000349000:G86X	G	+	1	0	GABRG2	161453560	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.357000	0.97099	2.756000	0.94617	0.563000	0.77884	GGA		0.388	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			
GNAI1	2770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	79764504	79764504	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr7:79764504A>T	ENST00000351004.3	+	1	401	c.28A>T	c.(28-30)Aag>Tag	p.K10*	GNAI1_ENST00000490206.1_3'UTR|GNAI1_ENST00000457358.2_5'Flank	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	10					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.K10*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						CGCCGAGGACAAGGCGGCGGT	0.687																																																	1	Substitution - Nonsense(1)	kidney(1)											15.0	16.0	15.0					7																	79764504		2194	4287	6481	SO:0001587	stop_gained	2770			AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"""Gi1 protein alpha subunit"""	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.28A>T	7.37:g.79764504A>T	ENSP00000343027:p.Lys10*	Somatic		WXS	Illumina HiSeq	Phase_I	A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Nonsense_Mutation	SNP	ENST00000351004.3	37	CCDS5595.1	.	.	.	.	.	.	.	.	.	.	A	40	8.354390	0.98774	.	.	ENSG00000127955	ENST00000442586;ENST00000351004	.	.	.	3.91	2.74	0.32292	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1514	0.31143	0.8999:0.0:0.1001:0.0	.	.	.	.	X	10	.	.	K	+	1	0	GNAI1	79602440	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.418000	0.90250	0.556000	0.29098	0.372000	0.22366	AAG		0.687	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1		NM_002069	
GRAP2	9402	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	40343157	40343157	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr22:40343157A>T	ENST00000344138.4	+	2	310	c.47A>T	c.(46-48)gAa>gTa	p.E16V	GRAP2_ENST00000399090.2_Intron|GRAP2_ENST00000478445.1_Intron|GRAP2_ENST00000540310.1_Intron|GRAP2_ENST00000544756.1_5'UTR|GRAP2_ENST00000543252.1_Missense_Mutation_p.E16V|GRAP2_ENST00000407075.3_Missense_Mutation_p.E16V	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	16	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)	p.E16V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GGTGAGGATGAACTGAGCTTT	0.498																																																	1	Substitution - Missense(1)	kidney(1)											197.0	176.0	183.0					22																	40343157		2203	4300	6503	SO:0001583	missense	9402			AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"""SH2 domain containing"""	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.47A>T	22.37:g.40343157A>T	ENSP00000339186:p.Glu16Val	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP	ENST00000344138.4	37	CCDS13999.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.587922	0.86851	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000420971;ENST00000407075	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.65	5.65	0.86999	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	D	0.86397	0.5923	H	0.98027	4.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.90947	0.4802	10	0.87932	D	0	-27.9514	13.4087	0.60929	1.0:0.0:0.0:0.0	.	16;16	Q6FI14;O75791	.;GRAP2_HUMAN	V	16	ENSP00000339186:E16V;ENSP00000446350:E16V;ENSP00000396355:E16V;ENSP00000385607:E16V	ENSP00000339186:E16V	E	+	2	0	GRAP2	38673103	1.000000	0.71417	0.976000	0.42696	0.981000	0.71138	5.800000	0.69108	2.150000	0.67090	0.455000	0.32223	GAA		0.498	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321295.1		NM_004810	
GRHPR	9380	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	37424868	37424868	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr9:37424868A>G	ENST00000318158.6	+	2	195	c.110A>G	c.(109-111)gAt>gGt	p.D37G	GRHPR_ENST00000607784.1_Missense_Mutation_p.D37G|GRHPR_ENST00000493368.1_3'UTR	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	37					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)	p.D37G(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		TGGGACTCGGATGAGCCCATC	0.667																																																	1	Substitution - Missense(1)	kidney(1)											49.0	45.0	46.0					9																	37424868		2203	4300	6503	SO:0001583	missense	9380			AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"""primary hyperoxaluria type 2"""	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.110A>G	9.37:g.37424868A>G	ENSP00000313432:p.Asp37Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T945|Q9H3E9|Q9H636|Q9UKX1	Missense_Mutation	SNP	ENST00000318158.6	37	CCDS6609.1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.735132	0.69189	.	.	ENSG00000137106	ENST00000377824;ENST00000318158	T;T	0.77750	-1.12;-1.12	5.98	5.98	0.97165	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.042355	0.85682	D	0.000000	T	0.74951	0.3784	L	0.43701	1.375	0.80722	D	1	B	0.16603	0.018	B	0.31290	0.127	T	0.69457	-0.5140	10	0.34782	T	0.22	0.755	16.1898	0.81977	1.0:0.0:0.0:0.0	.	37	Q9UBQ7	GRHPR_HUMAN	G	37	ENSP00000367055:D37G;ENSP00000313432:D37G	ENSP00000313432:D37G	D	+	2	0	GRHPR	37414868	1.000000	0.71417	0.981000	0.43875	0.514000	0.34195	8.540000	0.90641	2.307000	0.77673	0.529000	0.55759	GAT		0.667	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052442.1		NM_012203	
HNF4G	3174	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	76456146	76456146	+	Silent	SNP	A	A	G			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr8:76456146A>G	ENST00000354370.1	+	3	348	c.78A>G	c.(76-78)gcA>gcG	p.A26A	HNF4G_ENST00000396423.2_Silent_p.A63A			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	26					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.A26A(1)|p.A63A(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			ACTATGGGGCATCCAGCTGTG	0.463																																																	2	Substitution - coding silent(2)	kidney(2)											151.0	128.0	136.0					8																	76456146		2203	4300	6503	SO:0001819	synonymous_variant	3174				CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"""Nuclear hormone receptors"""	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.78A>G	8.37:g.76456146A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z2V9|Q9UH81|Q9UIS6	Silent	SNP	ENST00000354370.1	37																																																																																					0.463	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2		NM_004133	
GRINA	2907	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	145066243	145066243	+	Silent	SNP	A	A	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr8:145066243A>T	ENST00000313269.5	+	4	968	c.690A>T	c.(688-690)gcA>gcT	p.A230A	GRINA_ENST00000395068.4_Silent_p.A230A	NM_000837.1	NP_000828.1	Q7Z429	LFG1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	230						integral component of membrane (GO:0016021)		p.A230A(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCTTGTTGCACTGGTAACCC	0.582																																																	1	Substitution - coding silent(1)	kidney(1)											147.0	143.0	144.0					8																	145066243		2203	4300	6503	SO:0001819	synonymous_variant	2907			NM_001009184	CCDS34961.1	8q24.3	2010-03-18	2008-04-01						4589	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 3"""	138251		NMDARA1		1719427, 8406459	Standard	XM_005250899		Approved	HNRGW, TMBIM3, LFG1	uc003zao.1	Q7Z429		ENST00000313269.5:c.690A>T	8.37:g.145066243A>T		Somatic		WXS	Illumina HiSeq	Phase_I	B3KXM7|O43836|Q8IVW7	Silent	SNP	ENST00000313269.5	37	CCDS34961.1	.	.	.	.	.	.	.	.	.	.	A	9.859	1.195816	0.22037	.	.	ENSG00000178719	ENST00000534791	.	.	.	4.84	-8.51	0.00923	.	.	.	.	.	T	0.58878	0.2153	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66089	-0.6010	4	.	.	.	-8.7711	13.6868	0.62522	0.1671:0.7283:0.0:0.1046	.	.	.	.	S	154	.	.	T	+	1	0	GRINA	145138231	0.001000	0.12720	0.535000	0.28026	0.813000	0.45954	-1.782000	0.01772	-1.052000	0.03222	0.524000	0.50904	ACT		0.582	GRINA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384048.1		NM_001009184	
HUWE1	10075	broad.mit.edu;hgsc.bcm.edu	37	X	53674403	53674403	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chrX:53674403C>G	ENST00000342160.3	-	5	716	c.259G>C	c.(259-261)Gag>Cag	p.E87Q	HUWE1_ENST00000218328.8_Missense_Mutation_p.E87Q|HUWE1_ENST00000262854.6_Missense_Mutation_p.E87Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	87					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.E87Q(2)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TTCAGTTGCTCTCTTTCTGGC	0.493																																																	2	Substitution - Missense(2)	kidney(2)											176.0	143.0	154.0					X																	53674403		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.259G>C	X.37:g.53674403C>G	ENSP00000340648:p.Glu87Gln	Somatic		WXS	Illumina HiSeq	Phase_I	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.779879	0.49891	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328;ENST00000432528;ENST00000446750	T;T;T	0.46451	1.14;1.14;0.87	5.6	5.6	0.85130	.	0.064924	0.64402	D	0.000010	T	0.24586	0.0596	N	0.14661	0.345	0.36724	D	0.88131	P	0.40000	0.698	B	0.26693	0.072	T	0.26430	-1.0103	10	0.40728	T	0.16	.	17.3006	0.87182	0.0:1.0:0.0:0.0	.	87	Q7Z6Z7	HUWE1_HUMAN	Q	87	ENSP00000340648:E87Q;ENSP00000262854:E87Q;ENSP00000218328:E87Q	ENSP00000218328:E87Q	E	-	1	0	HUWE1	53691128	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.684000	0.61686	2.353000	0.79882	0.600000	0.82982	GAG		0.493	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1		XM_497119	
IGSF1	3547	broad.mit.edu;ucsc.edu	37	X	130416649	130416649	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chrX:130416649C>A	ENST00000361420.3	-	7	1094	c.1015G>T	c.(1015-1017)Gtg>Ttg	p.V339L	IGSF1_ENST00000370910.1_Missense_Mutation_p.V330L|IGSF1_ENST00000370903.3_Missense_Mutation_p.V339L|IGSF1_ENST00000370904.1_Missense_Mutation_p.V330L			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	339	Ig-like C2-type 4.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.V339L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CGTAGGCTCACATTCTGACCC	0.493																																																	1	Substitution - Missense(1)	kidney(1)											123.0	105.0	111.0					X																	130416649		2203	4300	6503	SO:0001583	missense	3547			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1015G>T	X.37:g.130416649C>A	ENSP00000355010:p.Val339Leu	Somatic		WXS	Illumina GAIIx	Phase_I	B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	7.245	0.602077	0.13939	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.01099	5.34;5.34;5.34;5.34	4.78	-0.0138	0.13982	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.835072	0.10348	N	0.685457	T	0.02455	0.0075	M	0.82193	2.58	0.09310	N	1	B;B	0.18741	0.029;0.03	B;B	0.25291	0.02;0.059	T	0.31447	-0.9943	10	0.45353	T	0.12	.	7.5492	0.27786	0.0:0.4937:0.0:0.5063	.	330;339	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	L	330;339;330;339	ENSP00000359947:V330L;ENSP00000355010:V339L;ENSP00000359941:V330L;ENSP00000359940:V339L	ENSP00000355010:V339L	V	-	1	0	IGSF1	130244330	0.003000	0.15002	0.010000	0.14722	0.077000	0.17291	-0.528000	0.06193	-0.265000	0.09352	0.594000	0.82650	GTG		0.493	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			
IL6ST	3572	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	55259325	55259325	+	Missense_Mutation	SNP	T	T	C	rs199518876		TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr5:55259325T>C	ENST00000381298.2	-	7	980	c.668A>G	c.(667-669)aAt>aGt	p.N223S	IL6ST_ENST00000381293.2_Missense_Mutation_p.N57S|IL6ST_ENST00000502326.3_Missense_Mutation_p.N223S|IL6ST_ENST00000577363.1_5'Flank|IL6ST_ENST00000381287.4_Missense_Mutation_p.N223S|IL6ST_ENST00000522633.2_Missense_Mutation_p.N223S|IL6ST_ENST00000336909.5_Missense_Mutation_p.N223S|IL6ST_ENST00000381294.3_Missense_Mutation_p.N223S|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000536319.1_Missense_Mutation_p.N223S	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	223					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)	p.N223S(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ATGTGGCGGATTGGGCTTCAC	0.294			O		hepatocellular ca																																			Dom	yes		5	5q11	3572	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""		E	1	Substitution - Missense(1)	kidney(1)											83.0	85.0	85.0					5																	55259325		2203	4300	6503	SO:0001583	missense	3572			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.668A>G	5.37:g.55259325T>C	ENSP00000370698:p.Asn223Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	T	2.871	-0.234045	0.05983	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000381293;ENST00000522633;ENST00000542298	T;T;T;T;T;T;T	0.35048	1.55;1.55;1.33;1.52;1.52;2.06;1.52	5.91	-7.89	0.01174	Fibronectin, type III (3);Immunoglobulin-like fold (1);	2.126650	0.02096	N	0.053559	T	0.13243	0.0321	N	0.12746	0.255	0.09310	N	1	B;B;B;B	0.25312	0.123;0.0;0.001;0.0	B;B;B;B	0.15484	0.013;0.001;0.002;0.001	T	0.16129	-1.0413	10	0.08837	T	0.75	.	2.1245	0.03735	0.1124:0.2854:0.2293:0.373	.	57;223;223;223	Q5FC05;Q5FC04;P40189-2;P40189	.;.;.;IL6RB_HUMAN	S	223;223;223;223;223;57;223;223	ENSP00000370698:N223S;ENSP00000338799:N223S;ENSP00000370694:N223S;ENSP00000370687:N223S;ENSP00000444456:N223S;ENSP00000370693:N57S;ENSP00000435399:N223S	ENSP00000338799:N223S	N	-	2	0	IL6ST	55295082	0.001000	0.12720	0.605000	0.28930	0.909000	0.53808	-0.663000	0.05299	-0.958000	0.03622	0.533000	0.62120	AAT		0.294	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3		NM_002184	
JARID2	3720	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	15496611	15496611	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr6:15496611A>T	ENST00000341776.2	+	7	1399	c.1155A>T	c.(1153-1155)aaA>aaT	p.K385N	JARID2_ENST00000541660.1_Missense_Mutation_p.K347N|JARID2_ENST00000397311.3_Missense_Mutation_p.K213N	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	385					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K385N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GCAATGCAAAAACCCGCAAAC	0.547																																																	1	Substitution - Missense(1)	kidney(1)											136.0	127.0	130.0					6																	15496611		2203	4300	6503	SO:0001583	missense	3720			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1155A>T	6.37:g.15496611A>T	ENSP00000341280:p.Lys385Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.596887	0.86953	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	T;T;T	0.35421	1.31;1.31;1.31	4.9	4.9	0.64082	.	0.092730	0.64402	D	0.000001	T	0.38480	0.1042	L	0.29908	0.895	0.58432	D	0.999993	D;D;D	0.89917	1.0;0.998;0.986	D;P;P	0.85130	0.997;0.874;0.722	T	0.38520	-0.9657	10	0.62326	D	0.03	-9.6547	14.674	0.68964	1.0:0.0:0.0:0.0	.	347;249;385	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	N	249;385;213;347	ENSP00000341280:K385N;ENSP00000380478:K213N;ENSP00000444623:K347N	ENSP00000341280:K385N	K	+	3	2	JARID2	15604590	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.028000	0.93712	2.046000	0.60703	0.533000	0.62120	AAA		0.547	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1		NM_004973	
KCNC1	3746	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	17793895	17793895	+	Silent	SNP	T	T	C			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr11:17793895T>C	ENST00000379472.3	+	2	1284	c.1254T>C	c.(1252-1254)gcT>gcC	p.A418A	KCNC1_ENST00000265969.6_Silent_p.A418A	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	418					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.A418A(2)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	TGGTGGGGGCTCTGTGTGCGC	0.602																																																	2	Substitution - coding silent(2)	kidney(2)											73.0	74.0	73.0					11																	17793895		2200	4293	6493	SO:0001819	synonymous_variant	3746			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.1254T>C	11.37:g.17793895T>C		Somatic		WXS	Illumina HiSeq	Phase_I	K4DI87	Silent	SNP	ENST00000379472.3	37	CCDS7827.1																																																																																				0.602	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1		NM_004976	
KIF1B	23095	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	10421772	10421772	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr1:10421772C>T	ENST00000377086.1	+	40	4395	c.4193C>T	c.(4192-4194)gCt>gTt	p.A1398V	KIF1B_ENST00000377081.1_Missense_Mutation_p.A1398V|KIF1B_ENST00000263934.6_Missense_Mutation_p.A1352V|KIF1B_ENST00000465635.1_3'UTR			O60333	KIF1B_HUMAN	kinesin family member 1B	1398					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.A1352V(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ATCCAGCCGGCTGTCATCACC	0.522																																																	1	Substitution - Missense(1)	kidney(1)											148.0	131.0	137.0					1																	10421772		2203	4300	6503	SO:0001583	missense	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4193C>T	1.37:g.10421772C>T	ENSP00000366290:p.Ala1398Val	Somatic		WXS	Illumina HiSeq	Phase_I	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	C	21.7	4.186397	0.78789	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.72394	-0.56;-0.65;-0.65	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.71829	0.3386	N	0.12569	0.235	0.80722	D	1	P;B;D;P;P;D	0.67145	0.529;0.377;0.972;0.949;0.767;0.996	P;B;P;P;B;D	0.73380	0.541;0.24;0.755;0.803;0.306;0.98	T	0.69022	-0.5255	10	0.20046	T	0.44	.	19.7433	0.96241	0.0:1.0:0.0:0.0	.	1384;1358;1398;1372;1398;1352	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	V	1398;1352;1398;1398	ENSP00000263934:A1352V;ENSP00000366290:A1398V;ENSP00000366284:A1398V	ENSP00000263934:A1352V	A	+	2	0	KIF1B	10344359	1.000000	0.71417	0.683000	0.30040	0.994000	0.84299	7.776000	0.85560	2.733000	0.93635	0.655000	0.94253	GCT		0.522	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			
LAMB2	3913	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	49169156	49169156	+	Splice_Site	SNP	T	T	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr3:49169156T>A	ENST00000418109.1	-	6	624	c.460A>T	c.(460-462)Aca>Tca	p.T154S	LAMB2_ENST00000305544.4_Splice_Site_p.T154S	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	154	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.T154S(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGGCGAAATGTCTGGGTAGGG	0.587																																																	1	Substitution - Missense(1)	kidney(1)											42.0	45.0	44.0					3																	49169156		2203	4300	6503	SO:0001630	splice_region_variant	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.460-1A>T	3.37:g.49169156T>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.264026	0.80358	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000494831	T;T;T	0.77358	-1.09;-1.09;-1.09	4.85	4.85	0.62838	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.76835	0.4043	N	0.17474	0.49	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71922	-0.4446	10	0.11794	T	0.64	.	14.2637	0.66102	0.0:0.0:0.0:1.0	.	154	P55268	LAMB2_HUMAN	S	154;154;5	ENSP00000388325:T154S;ENSP00000307156:T154S;ENSP00000444751:T5S	ENSP00000307156:T154S	T	-	1	0	LAMB2	49144160	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.064000	0.71169	2.047000	0.60756	0.533000	0.62120	ACA		0.587	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1		NM_002292	Missense_Mutation
LPAR4	2846	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	78011131	78011131	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chrX:78011131G>T	ENST00000435339.3	+	2	1151	c.765G>T	c.(763-765)atG>atT	p.M255I		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	255					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.M255I(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CAGTACATATGGCAGTCTTTG	0.428																																																	1	Substitution - Missense(1)	kidney(1)											147.0	111.0	123.0					X																	78011131		2203	4300	6503	SO:0001583	missense	2846			U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.765G>T	X.37:g.78011131G>T	ENSP00000408205:p.Met255Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475542	0.26511	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.71698	-0.59;-0.59	4.13	4.13	0.48395	GPCR, rhodopsin-like superfamily (1);	0.157066	0.43747	U	0.000531	T	0.50188	0.1601	N	0.05078	-0.115	0.39842	D	0.973123	B	0.02656	0.0	B	0.04013	0.001	T	0.51371	-0.8714	10	0.45353	T	0.12	.	14.2276	0.65871	0.0:0.0:1.0:0.0	.	255	Q99677	LPAR4_HUMAN	I	255	ENSP00000408205:M255I;ENSP00000362398:M255I	ENSP00000362398:M255I	M	+	3	0	LPAR4	77897787	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	3.309000	0.51903	1.898000	0.54952	0.422000	0.28245	ATG		0.428	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2		NM_005296	
LRRC23	10233	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	7023184	7023184	+	3'UTR	SNP	C	C	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr12:7023184C>A	ENST00000007969.8	+	0	1406				ENO2_ENST00000535366.1_5'Flank|ENO2_ENST00000541477.1_5'Flank|LRRC23_ENST00000443597.2_3'UTR|ENO2_ENST00000538763.1_5'Flank|ENO2_ENST00000544774.1_5'Flank|ENO2_ENST00000545045.2_5'Flank|ENO2_ENST00000229277.1_5'Flank|LRRC23_ENST00000429740.1_3'UTR|LRRC23_ENST00000323702.5_Silent_p.I296I	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23									p.I296I(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						GGCCCAGGATCTGCTCTGTGC	0.622																																																	1	Substitution - coding silent(1)	kidney(1)											127.0	118.0	121.0					12																	7023184		2203	4300	6503	SO:0001624	3_prime_UTR_variant	10233			BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000007969.8:c.*154C>A	12.37:g.7023184C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	Silent	SNP	ENST00000007969.8	37	CCDS8569.1																																																																																				0.622	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345214.1		NM_006992	
MAP3K15	389840	hgsc.bcm.edu;ucsc.edu	37	X	19379616	19379617	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chrX:19379616_19379617insA	ENST00000338883.4	-	27	3773_3774	c.3774_3775insT	c.(3772-3777)attgaafs	p.E1259fs	PDHA1_ENST00000545074.1_3'UTR|MAP3K15_ENST00000469203.2_Frame_Shift_Ins_p.E1091fs|MAP3K15_ENST00000518578.1_5'UTR|PDHA1_ENST00000422285.2_3'UTR|PDHA1_ENST00000379806.5_3'UTR|MAP3K15_ENST00000359173.3_Frame_Shift_Ins_p.E694fs|PDHA1_ENST00000540249.1_3'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1259							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TTTACCTTTTCAATTGTCTTTG	0.416																																																	0																																										SO:0001589	frameshift_variant	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3775dupT	X.37:g.19379618_19379618dupA	ENSP00000345629:p.Glu1259fs	Somatic		WXS	Illumina HiSeq	Phase_I	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Frame_Shift_Del	INS	ENST00000338883.4	37																																																																																					0.416	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001001671	
MAST4	375449	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	66448561	66448561	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr5:66448561C>G	ENST00000403625.2	+	25	3687	c.3392C>G	c.(3391-3393)tCc>tGc	p.S1131C	MAST4_ENST00000405643.1_Missense_Mutation_p.S952C|MAST4_ENST00000261569.7_Missense_Mutation_p.S937C|MAST4_ENST00000403666.1_Missense_Mutation_p.S942C|MAST4_ENST00000404260.3_Missense_Mutation_p.S1134C	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1134	Ser-rich.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.S1134C(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGCCGAGATTCCTCAGCAGCT	0.542																																																	1	Substitution - Missense(1)	kidney(1)											111.0	112.0	112.0					5																	66448561		1948	4158	6106	SO:0001583	missense	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.3392C>G	5.37:g.66448561C>G	ENSP00000385727:p.Ser1131Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.317853|4.317853	0.81469|0.81469	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	.|T;T;T;T;T	.|0.67865	.|-0.26;-0.26;-0.29;-0.28;-0.26	6.17|6.17	6.17|6.17	0.99709|0.99709	.|PDZ/DHR/GLGF (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80380|0.80380	0.4612|0.4612	L|L	0.59436|0.59436	1.845|1.845	0.40969|0.40969	D|D	0.984683|0.984683	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.74023	.|0.969;0.982	T|T	0.76274|0.76274	-0.3019|-0.3019	5|10	.|0.37606	.|T	.|0.19	-20.8234|-20.8234	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1134;942	.|O15021;O15021-3	.|MAST4_HUMAN;.	L|C	187|1134;1131;942;952;952;937;870	.|ENSP00000385048:S1134C;ENSP00000385727:S1131C;ENSP00000384313:S942C;ENSP00000384099:S952C;ENSP00000261569:S937C	.|ENSP00000261569:S937C	F|S	+|+	3|2	2|0	MAST4|MAST4	66484317|66484317	0.995000|0.995000	0.38212|0.38212	0.950000|0.950000	0.38849|0.38849	0.981000|0.981000	0.71138|0.71138	3.252000|3.252000	0.51461|0.51461	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	TTC|TCC		0.542	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			
MCEE	84693	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	71351338	71351338	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr2:71351338C>A	ENST00000244217.5	-	2	393	c.376G>T	c.(376-378)Gag>Tag	p.E126*	AC007881.1_ENST00000578636.1_RNA	NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase	126					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|L-methylmalonyl-CoA metabolic process (GO:0046491)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|methylmalonyl-CoA epimerase activity (GO:0004493)	p.E126*(1)		kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						TAAAATACCTCGATGCAGATG	0.348																																																	1	Substitution - Nonsense(1)	kidney(1)											36.0	36.0	36.0					2																	71351338		2203	4300	6503	SO:0001587	stop_gained	84693			AF364547	CCDS1915.1	2p13.3	2011-05-12			ENSG00000124370	ENSG00000124370	5.1.99.1		16732	protein-coding gene	gene with protein product	"""glyoxalase domain containing 2"""	608419				16697227, 16752391, 16843692	Standard	NM_032601		Approved	GLOD2	uc002shs.2	Q96PE7	OTTHUMG00000129709	ENST00000244217.5:c.376G>T	2.37:g.71351338C>A	ENSP00000244217:p.Glu126*	Somatic		WXS	Illumina HiSeq	Phase_I	Q53TP1|Q8WW63	Nonsense_Mutation	SNP	ENST00000244217.5	37	CCDS1915.1	.	.	.	.	.	.	.	.	.	.	C	37	6.464947	0.97590	.	.	ENSG00000124370	ENST00000244217;ENST00000494660;ENST00000486135	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-11.1625	16.6693	0.85261	0.0:1.0:0.0:0.0	.	.	.	.	X	126;31;31	.	ENSP00000244217:E126X	E	-	1	0	MCEE	71204846	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.090000	0.76916	2.610000	0.88304	0.557000	0.71058	GAG		0.348	MCEE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251917.3		NM_032601	
MKRN3	7681	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	23811752	23811752	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr15:23811752C>A	ENST00000314520.3	+	1	1299	c.823C>A	c.(823-825)Cac>Aac	p.H275N	MKRN3_ENST00000568252.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568945.1_3'UTR	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	275	Makorin-type Cys-His.				protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.H275N(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GCAGACCTTGCACCCCATGGA	0.522																																																	1	Substitution - Missense(1)	kidney(1)											95.0	96.0	95.0					15																	23811752		2203	4300	6503	SO:0001583	missense	7681			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.823C>A	15.37:g.23811752C>A	ENSP00000313881:p.His275Asn	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000314520.3	37	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416062	0.42817	.	.	ENSG00000179455	ENST00000314520	T	0.37411	1.2	4.07	3.16	0.36331	.	0.161181	0.53938	D	0.000050	T	0.58004	0.2092	M	0.84156	2.68	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	T	0.62459	-0.6850	10	0.59425	D	0.04	.	10.177	0.42943	0.0:0.9012:0.0:0.0988	.	275	Q13064	MKRN3_HUMAN	N	275	ENSP00000313881:H275N	ENSP00000313881:H275N	H	+	1	0	MKRN3	21362845	1.000000	0.71417	0.881000	0.34555	0.002000	0.02628	5.424000	0.66464	1.314000	0.45095	-0.140000	0.14226	CAC		0.522	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1		NM_005664	
MYO15A	51168	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	18049342	18049342	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr17:18049342G>A	ENST00000205890.5	+	30	6768	c.6430G>A	c.(6430-6432)Gct>Act	p.A2144T	snoU13_ENST00000459354.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2144	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A2144T(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCCCACAATGCTGAGCGGGG	0.602																																																	1	Substitution - Missense(1)	kidney(1)											36.0	42.0	40.0					17																	18049342		2154	4257	6411	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.6430G>A	17.37:g.18049342G>A	ENSP00000205890:p.Ala2144Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686606	0.47991	.	.	ENSG00000091536	ENST00000205890	D	0.92348	-3.02	5.5	3.12	0.35913	MyTH4 domain (3);	.	.	.	.	D	0.89174	0.6640	L	0.42529	1.33	0.80722	D	1	P	0.35793	0.521	B	0.40825	0.341	D	0.87155	0.2211	9	0.40728	T	0.16	.	11.6191	0.51106	0.0754:0.0:0.7983:0.1264	.	2144	Q9UKN7	MYO15_HUMAN	T	2144	ENSP00000205890:A2144T	ENSP00000205890:A2144T	A	+	1	0	MYO15A	17990067	0.998000	0.40836	0.769000	0.31535	0.909000	0.53808	3.628000	0.54259	1.296000	0.44742	0.555000	0.69702	GCT		0.602	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1		NM_016239	
NFATC2	4773	broad.mit.edu;ucsc.edu	37	20	50092197	50092197	+	Splice_Site	DEL	G	G	-			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr20:50092197delG	ENST00000396009.3	-	4	1552	c.1333delC	c.(1333-1335)ctc>tc	p.L445fs	NFATC2_ENST00000610033.1_Splice_Site_p.L226fs|NFATC2_ENST00000609507.1_Splice_Site_p.L226fs|NFATC2_ENST00000414705.1_Splice_Site_p.L425fs|NFATC2_ENST00000609943.1_Splice_Site_p.L425fs|NFATC2_ENST00000371564.3_Splice_Site_p.L445fs	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	445	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TAGCCATGGAGCTGGTGGGGG	0.502																																																	0													59.0	55.0	57.0					20																	50092197		2203	4300	6503	SO:0001630	splice_region_variant	4773			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1333-1C>-	20.37:g.50092197delG		Somatic		WXS	Illumina GAIIx	Phase_I	B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Frame_Shift_Del	DEL	ENST00000396009.3	37	CCDS13437.1																																																																																				0.502	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2		NM_012340	Frame_Shift_Del
NMD3	51068	hgsc.bcm.edu;ucsc.edu	37	3	160945064	160945064	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr3:160945064delA	ENST00000460469.1	+	3	664	c.209delA	c.(208-210)cagfs	p.Q70fs	NMD3_ENST00000351193.2_Frame_Shift_Del_p.Q70fs|NMD3_ENST00000472947.1_Frame_Shift_Del_p.Q70fs|NMD3_ENST00000478160.1_3'UTR			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	70					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			ACTTGGATACAGTGTGCTTTA	0.368																																																	0													144.0	140.0	142.0					3																	160945064		2203	4300	6503	SO:0001589	frameshift_variant	51068			BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.209delA	3.37:g.160945064delA	ENSP00000419004:p.Gln70fs	Somatic		WXS	Illumina HiSeq	Phase_I	D3DNM7|Q9Y2Z6	Frame_Shift_Del	DEL	ENST00000460469.1	37	CCDS3194.1																																																																																				0.368	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1		NM_015938	
OGT	8473	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	70784541	70784541	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chrX:70784541G>A	ENST00000373719.3	+	19	2744	c.2527G>A	c.(2527-2529)Gta>Ata	p.V843I	OGT_ENST00000373701.3_Missense_Mutation_p.V833I	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	843					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)	p.V833I(1)|p.V843I(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					AGATGCCATCGTATACTGTAA	0.403																																																	2	Substitution - Missense(2)	kidney(2)											133.0	110.0	118.0					X																	70784541		2203	4300	6503	SO:0001583	missense	8473			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2527G>A	X.37:g.70784541G>A	ENSP00000362824:p.Val843Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297387	0.40694	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.17691	2.26;2.26	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.30603	0.0770	L	0.35341	1.055	0.80722	D	1	D;D;B	0.71674	0.996;0.998;0.169	D;D;B	0.70716	0.97;0.966;0.082	T	0.02232	-1.1191	10	0.23302	T	0.38	.	18.2254	0.89915	0.0:0.0:1.0:0.0	.	717;833;843	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	I	843;833	ENSP00000362824:V843I;ENSP00000362805:V833I	ENSP00000362805:V833I	V	+	1	0	OGT	70701266	1.000000	0.71417	0.995000	0.50966	0.065000	0.16274	9.778000	0.99011	2.329000	0.79093	0.600000	0.82982	GTA		0.403	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3		NM_003605, NM_181672	
OR52J3	119679	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5068545	5068545	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr11:5068545C>T	ENST00000380370.1	+	1	790	c.790C>T	c.(790-792)Cga>Tga	p.R264*		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R264*(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTTACTCATCGATTTGGACA	0.438																																																	1	Substitution - Nonsense(1)	kidney(1)											237.0	217.0	224.0					11																	5068545		2201	4298	6499	SO:0001587	stop_gained	119679			AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"""GPCR / Class A : Olfactory receptors"""	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.790C>T	11.37:g.5068545C>T	ENSP00000369728:p.Arg264*	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IFE4	Nonsense_Mutation	SNP	ENST00000380370.1	37	CCDS31370.1	.	.	.	.	.	.	.	.	.	.	C	7.702	0.693282	0.15039	.	.	ENSG00000205495	ENST00000380370	.	.	.	4.19	-0.0822	0.13699	.	0.185603	0.25961	N	0.027199	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.9642	0.35865	0.4605:0.4651:0.0:0.0744	.	.	.	.	X	264	.	ENSP00000369728:R264X	R	+	1	2	OR52J3	5025121	0.000000	0.05858	0.131000	0.22000	0.003000	0.03518	-1.679000	0.01940	-0.168000	0.10853	-0.808000	0.03180	CGA		0.438	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1		NM_001001916	
PAPD5	64282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	50257298	50257298	+	Splice_Site	SNP	G	G	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr16:50257298G>A	ENST00000561678.1	+	6	1080	c.1006G>A	c.(1006-1008)Ggt>Agt	p.G336S	PAPD5_ENST00000436909.3_Splice_Site_p.G446S|PAPD5_ENST00000357464.3_Splice_Site_p.G367S|PAPD5_ENST00000573002.1_3'UTR			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	367	PAP-associated.				histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)	p.G79S(1)|p.G446S(1)		endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		TTTACAACCAGGTATTGAAAT	0.363																																																	2	Substitution - Missense(2)	kidney(2)											29.0	28.0	28.0					16																	50257298		1850	4097	5947	SO:0001630	splice_region_variant	64282			AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"""TUTase3"""	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.1006+1G>A	16.37:g.50257298G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DV38|Q9NW67|Q9Y6C0	Missense_Mutation	SNP	ENST00000561678.1	37		.	.	.	.	.	.	.	.	.	.	G	26.9	4.785797	0.90282	.	.	ENSG00000121274	ENST00000436909;ENST00000357464	T;T	0.74209	-0.82;-0.82	5.87	4.92	0.64577	PAP/25A-associated (1);	0.090454	0.85682	N	0.000000	T	0.75221	0.3820	L	0.28400	0.85	0.80722	D	1	P;P	0.49696	0.927;0.756	P;P	0.55667	0.781;0.656	T	0.76798	-0.2826	10	0.48119	T	0.1	.	15.2994	0.73936	0.0669:0.0:0.9331:0.0	.	446;367	B4DV38;Q8NDF8	.;PAPD5_HUMAN	S	446;367	ENSP00000396995:G446S;ENSP00000350054:G367S	ENSP00000350054:G367S	G	+	1	0	PAPD5	48814799	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	1.635000	0.50512	0.655000	0.94253	GGT		0.363	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000423150.1		NM_022447	Missense_Mutation
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52643828	52643828	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr3:52643828T>A	ENST00000296302.7	-	16	2069	c.2068A>T	c.(2068-2070)Aga>Tga	p.R690*	PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R705*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R705*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R690*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R658*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R690*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R690*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R690*			Q86U86	PB1_HUMAN	polybromo 1	690	Bromo 5. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R690fs*9(2)|p.R690*(2)|p.R658*(1)|p.R658fs*9(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AACTCAGATCTAGAGGGAAGC	0.428			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	6	Substitution - Nonsense(3)|Deletion - Frameshift(3)	kidney(6)											113.0	121.0	118.0					3																	52643828		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2068A>T	3.37:g.52643828T>A	ENSP00000296302:p.Arg690*	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	T	39	7.716139	0.98450	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	6.17	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.5297	13.9288	0.63981	0.0:0.0:0.4094:0.5906	.	.	.	.	X	658;690;690;690;690;690;705;705;690;649	.	ENSP00000296302:R690X	R	-	1	2	PBRM1	52618868	1.000000	0.71417	0.988000	0.46212	0.976000	0.68499	4.938000	0.63519	1.118000	0.41863	0.533000	0.62120	AGA		0.428	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PCDHB7	56129	broad.mit.edu;hgsc.bcm.edu	37	5	140553926	140553926	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr5:140553926G>A	ENST00000231137.3	+	1	1684	c.1510G>A	c.(1510-1512)Gtc>Atc	p.V504I		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	504	Cadherin 5. {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)	p.V504I(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCTCCCTGGTCTCCATCAA	0.682																																																	1	Substitution - Missense(1)	kidney(1)											86.0	90.0	89.0					5																	140553926		2203	4298	6501	SO:0001583	missense	56129			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1510G>A	5.37:g.140553926G>A	ENSP00000231137:p.Val504Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	g	0.007	-2.008963	0.00426	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.60920	0.15	4.34	2.45	0.29901	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.27313	0.0670	N	0.02345	-0.59	0.09310	N	1	B	0.23249	0.082	B	0.29785	0.107	T	0.28522	-1.0041	9	0.15952	T	0.53	.	3.4327	0.07434	0.3259:0.0:0.4837:0.1904	.	504	Q9Y5E2	PCDB7_HUMAN	I	504;287	ENSP00000231137:V504I	ENSP00000231137:V504I	V	+	1	0	PCDHB7	140534110	0.000000	0.05858	0.395000	0.26283	0.107000	0.19398	-1.681000	0.01937	0.901000	0.36495	0.552000	0.68991	GTC		0.682	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2		NM_018940	
JADE3	9767	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	46917973	46917973	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chrX:46917973A>C	ENST00000218343.4	+	11	2264	c.1966A>C	c.(1966-1968)Aaa>Caa	p.K656Q	PHF16_ENST00000397189.1_Missense_Mutation_p.K656Q	NM_014735.3	NP_055550.1												p.K656Q(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TGGGAATGGGAAAAGTCAGCC	0.537																																																	1	Substitution - Missense(1)	kidney(1)											47.0	41.0	43.0					X																	46917973		2203	4300	6503	SO:0001583	missense	9767																														ENST00000218343.4:c.1966A>C	X.37:g.46917973A>C	ENSP00000218343:p.Lys656Gln	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000218343.4	37	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	A	13.32	2.200558	0.38905	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	T;T	0.55052	0.54;0.54	5.64	5.64	0.86602	.	0.658965	0.16126	N	0.228432	T	0.47544	0.1451	L	0.32530	0.975	0.38800	D	0.955185	D	0.53619	0.961	P	0.47206	0.541	T	0.44967	-0.9293	10	0.34782	T	0.22	.	11.5954	0.50970	0.8427:0.1573:0.0:0.0	.	656	Q92613	JADE3_HUMAN	Q	656	ENSP00000380373:K656Q;ENSP00000218343:K656Q	ENSP00000218343:K656Q	K	+	1	0	PHF16	46802917	1.000000	0.71417	0.957000	0.39632	0.936000	0.57629	5.341000	0.65964	1.886000	0.54624	0.486000	0.48141	AAA		0.537	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			
PHKA1	5255	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	71831023	71831023	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chrX:71831023C>A	ENST00000373542.4	-	22	2540	c.2381G>T	c.(2380-2382)tGg>tTg	p.W794L	PHKA1_ENST00000541944.1_Missense_Mutation_p.W735L|PHKA1_ENST00000373539.3_Missense_Mutation_p.W794L|PHKA1_ENST00000373545.3_Missense_Mutation_p.W735L|PHKA1_ENST00000339490.3_Missense_Mutation_p.W794L	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	794					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.W794L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TTCAGTGTTCCAGTCAGGTCC	0.423																																																	1	Substitution - Missense(1)	kidney(1)											70.0	63.0	66.0					X																	71831023		2203	4300	6503	SO:0001583	missense	5255				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.2381G>T	X.37:g.71831023C>A	ENSP00000362643:p.Trp794Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951176	0.73787	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.91740	-2.82;-2.88;-2.9;-2.89;-2.8	5.85	5.85	0.93711	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.96037	0.8709	M	0.81682	2.555	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.91635	0.999;0.966;0.98	D	0.95792	0.8825	10	0.49607	T	0.09	-12.0707	16.3512	0.83208	0.0:1.0:0.0:0.0	.	735;794;794	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	L	735;794;735;794;794	ENSP00000362646:W735L;ENSP00000362643:W794L;ENSP00000441251:W735L;ENSP00000342469:W794L;ENSP00000362640:W794L	ENSP00000342469:W794L	W	-	2	0	PHKA1	71747748	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.329000	0.79170	2.467000	0.83353	0.600000	0.82982	TGG		0.423	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			
PITPNM2	57605	broad.mit.edu;ucsc.edu	37	12	123488978	123488978	+	Silent	SNP	C	C	T	rs369669482		TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr12:123488978C>T	ENST00000542749.1	-	6	1074	c.1011G>A	c.(1009-1011)tcG>tcA	p.S337S	PITPNM2_ENST00000546049.1_Silent_p.S375S|PITPNM2_ENST00000320201.4_Silent_p.S337S|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000280562.5_Silent_p.S337S|PITPNM2_ENST00000392428.1_Silent_p.S58S			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	337					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)	p.S337S(1)		NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		AGCTCTCATCCGAGTCCCTGG	0.592																																																	1	Substitution - coding silent(1)	kidney(1)						C		0,4406		0,0,2203	140.0	102.0	115.0		1011	-9.4	0.0	12		115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PITPNM2	NM_020845.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		337/1350	123488978	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57605			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1011G>A	12.37:g.123488978C>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q9P271	Silent	SNP	ENST00000542749.1	37	CCDS9242.1																																																																																				0.592	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1		NM_020845	
PNPLA7	375775	broad.mit.edu;ucsc.edu	37	9	140379177	140379178	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr9:140379177_140379178insA	ENST00000277531.4	-	20	2319_2320	c.2133_2134insT	c.(2131-2136)cttgggfs	p.G712fs	PNPLA7_ENST00000406427.1_Frame_Shift_Ins_p.G737fs|PNPLA7_ENST00000371457.1_Frame_Shift_Ins_p.G318fs	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	712					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GTGGGGAGCCCAAGCTGGTGGC	0.668																																																	0																																										SO:0001589	frameshift_variant	375775			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2134dupT	9.37:g.140379179_140379179dupA	ENSP00000277531:p.Gly712fs	Somatic		WXS	Illumina GAIIx	Phase_I	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Frame_Shift_Ins	INS	ENST00000277531.4	37	CCDS7045.1																																																																																				0.668	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1		NM_152286	
PRKG1	5592	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	53667290	53667290	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr10:53667290C>T	ENST00000401604.2	+	5	871	c.677C>T	c.(676-678)cCt>cTt	p.P226L	PRKG1_ENST00000373980.4_Missense_Mutation_p.P241L|PRKG1_ENST00000373985.1_Missense_Mutation_p.P214L			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	226	cGMP-binding, low affinity.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)	p.P241L(1)|p.P226L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CAGAGCCTTCCTGAAGAGATC	0.408																																																	2	Substitution - Missense(2)	kidney(2)											209.0	191.0	197.0					10																	53667290		2203	4300	6503	SO:0001583	missense	5592				CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.677C>T	10.37:g.53667290C>T	ENSP00000384200:p.Pro226Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869672	0.51588	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000373976	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.14	5.14	0.70334	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.071575	0.64402	D	0.000012	T	0.40398	0.1115	M	0.82323	2.585	0.54753	D	0.999985	B;P	0.37207	0.404;0.587	B;B	0.35859	0.212;0.164	T	0.49072	-0.8977	10	0.59425	D	0.04	-7.2043	16.0812	0.81005	0.0:1.0:0.0:0.0	.	241;226	Q13976-2;Q13976	.;KGP1_HUMAN	L	226;214;241;99	ENSP00000384200:P226L;ENSP00000363097:P214L;ENSP00000363092:P241L;ENSP00000363087:P99L	ENSP00000363087:P99L	P	+	2	0	PRKG1	53337296	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.652000	0.46682	2.403000	0.81681	0.491000	0.48974	CCT		0.408	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				
PRM2	5620	hgsc.bcm.edu	37	16	11367390	11367401	+	IGR	DEL	GCTGTGGCCTGG	GCTGTGGCCTGG	-	rs573431737	byFrequency	TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	GCTGTGGCCTGG	GCTGTGGCCTGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr16:11367390_11367401delGCTGTGGCCTGG	ENST00000241808.4	-	0	680				PRM3_ENST00000327157.2_In_Frame_Del_p.PGHS18del|RMI2_ENST00000572173.1_Intron|SNORA48_ENST00000390926.1_RNA	NM_002762.2	NP_002753.2	P04554	PRM2_HUMAN	protamine 2						cell differentiation (GO:0030154)|chromosome condensation (GO:0030261)|DNA packaging (GO:0006323)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						CATGGCCCGTGCTGtggcctgggctgtggcct	0.613																																																	1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)								1,3661		0,1,1830						0.4	0.5			26	7,7849		0,7,3921	no	coding	PRM3	NM_021247.1		0,8,5751	A1A1,A1R,RR		0.0891,0.0273,0.0695				8,11510				SO:0001628	intergenic_variant	58531				CCDS42118.1, CCDS66944.1	16p13.13	2013-10-17			ENSG00000122304	ENSG00000122304			9448	protein-coding gene	gene with protein product	"""cancer/testis antigen family 94, member 2"""	182890				16632464	Standard	NM_001286356		Approved	CT94.2	uc002dau.1	P04554	OTTHUMG00000172317		16.37:g.11367390_11367401delGCTGTGGCCTGG		Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZMM0	In_Frame_Del	DEL	ENST00000241808.4	37	CCDS42118.1																																																																																				0.613	PRM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417808.1			
PRPF40B	25766	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	50037528	50037528	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr12:50037528A>G	ENST00000380281.1	+	23	2436	c.2372A>G	c.(2371-2373)cAc>cGc	p.H791R	PRPF40B_ENST00000548825.2_Missense_Mutation_p.H812R|PRPF40B_ENST00000261897.1_Missense_Mutation_p.H778R|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	791					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.H791R(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						AAGAGAAGACACAAGTCGGTG	0.463																																																	1	Substitution - Missense(1)	kidney(1)											69.0	68.0	69.0					12																	50037528		2203	4300	6503	SO:0001583	missense	25766			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.2372A>G	12.37:g.50037528A>G	ENSP00000369634:p.His791Arg	Somatic		WXS	Illumina HiSeq	Phase_I	O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37		.	.	.	.	.	.	.	.	.	.	A	13.84	2.357573	0.41801	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.23754	1.89;1.9	4.58	4.58	0.56647	.	0.421373	0.22144	N	0.064002	T	0.41026	0.1141	L	0.39147	1.195	0.80722	D	1	D;D;D	0.61080	0.981;0.989;0.989	D;D;D	0.72625	0.95;0.978;0.978	T	0.24476	-1.0159	10	0.62326	D	0.03	-5.9535	13.4273	0.61032	1.0:0.0:0.0:0.0	.	791;778;790	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	R	778;791	ENSP00000261897:H778R;ENSP00000369634:H791R	ENSP00000261897:H778R	H	+	2	0	PRPF40B	48323795	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	7.872000	0.87187	2.085000	0.62840	0.454000	0.30748	CAC		0.463	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1		NM_012272	
PSTK	118672	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	124742525	124742525	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr10:124742525C>T	ENST00000368887.3	+	2	933	c.493C>T	c.(493-495)Cag>Tag	p.Q165*	PSTK_ENST00000405485.1_Nonsense_Mutation_p.Q165*|PSTK_ENST00000497219.1_3'UTR	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	165					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|tRNA binding (GO:0000049)	p.Q165*(1)		endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		TGAAGTCTACCAGCTGGCTCG	0.323																																																	1	Substitution - Nonsense(1)	kidney(1)											87.0	93.0	91.0					10																	124742525		2203	4300	6503	SO:0001587	stop_gained	118672			AK127173	CCDS7633.1	10q26.13	2007-04-17	2007-04-17	2007-04-17	ENSG00000179988	ENSG00000179988			28578	protein-coding gene	gene with protein product		611310	"""chromosome 10 open reading frame 89"""	C10orf89		15317934	Standard	NM_153336		Approved	MGC35392	uc001lgy.1	Q8IV42	OTTHUMG00000019191	ENST00000368887.3:c.493C>T	10.37:g.124742525C>T	ENSP00000357882:p.Gln165*	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZSS9	Nonsense_Mutation	SNP	ENST00000368887.3	37	CCDS7633.1	.	.	.	.	.	.	.	.	.	.	C	41	9.088873	0.99062	.	.	ENSG00000179988	ENST00000368887;ENST00000405485	.	.	.	5.44	5.44	0.79542	.	0.216160	0.40302	N	0.001130	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7433	16.1787	0.81885	0.0:1.0:0.0:0.0	.	.	.	.	X	165	.	ENSP00000357882:Q165X	Q	+	1	0	PSTK	124732515	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.139000	0.71728	2.534000	0.85438	0.609000	0.83330	CAG		0.323	PSTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050811.1		NM_153336	
PTPRU	10076	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	29611375	29611375	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr1:29611375G>T	ENST00000345512.3	+	14	2441	c.2312G>T	c.(2311-2313)cGc>cTc	p.R771L	PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Missense_Mutation_p.R771L|PTPRU_ENST00000356870.3_Missense_Mutation_p.R771L|PTPRU_ENST00000373779.3_Missense_Mutation_p.R771L|PTPRU_ENST00000323874.8_Missense_Mutation_p.R771L|PTPRU_ENST00000460170.2_Missense_Mutation_p.R771L	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	771	Mediates interaction with CTNNB1. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R771L(3)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GTCATCATCCGCAAAGGGTGA	0.597																																																	3	Substitution - Missense(3)	kidney(3)											83.0	69.0	74.0					1																	29611375		2203	4300	6503	SO:0001583	missense	10076			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2312G>T	1.37:g.29611375G>T	ENSP00000334941:p.Arg771Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293352	0.80914	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.34072	1.41;1.44;1.44;1.44;1.38;1.44	5.21	5.21	0.72293	.	0.067660	0.64402	D	0.000018	T	0.45816	0.1361	L	0.58101	1.795	0.47862	D	0.999532	P;D;P;P;P	0.53151	0.913;0.958;0.913;0.93;0.858	P;P;P;B;B	0.50570	0.562;0.644;0.562;0.441;0.338	T	0.35943	-0.9768	9	.	.	.	.	15.9183	0.79539	0.0:0.0:1.0:0.0	.	771;771;771;771;771	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	L	771	ENSP00000334941:R771L;ENSP00000362884:R771L;ENSP00000349333:R771L;ENSP00000314987:R771L;ENSP00000392332:R771L;ENSP00000432906:R771L	.	R	+	2	0	PTPRU	29483962	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.792000	0.69052	2.422000	0.82143	0.542000	0.68232	CGC		0.597	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			
RAB7A	7879	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	128516883	128516883	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr3:128516883A>T	ENST00000265062.3	+	3	397	c.151A>T	c.(151-153)Atg>Ttg	p.M51L	RAB7A_ENST00000485280.1_Missense_Mutation_p.M51L|RAB7A_ENST00000482525.1_Missense_Mutation_p.M51L	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family	51					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|bone resorption (GO:0045453)|cell death (GO:0008219)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|epidermal growth factor catabolic process (GO:0007174)|GTP catabolic process (GO:0006184)|phagosome acidification (GO:0090383)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein targeting to lysosome (GO:0006622)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	alveolar lamellar body (GO:0097208)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.M51L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		CAAGGAGGTGATGGTGGATGA	0.443																																																	1	Substitution - Missense(1)	kidney(1)											166.0	152.0	157.0					3																	128516883		2203	4300	6503	SO:0001583	missense	7879			X93499	CCDS3052.1	3q21	2014-09-17	2007-01-15	2007-01-15	ENSG00000075785	ENSG00000075785		"""RAB, member RAS oncogene"""	9788	protein-coding gene	gene with protein product		602298	"""RAB7, member RAS oncogene family"""	RAB7		9126495, 9428630	Standard	NM_004637		Approved		uc003eks.1	P51149	OTTHUMG00000159812	ENST00000265062.3:c.151A>T	3.37:g.128516883A>T	ENSP00000265062:p.Met51Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K3V6|Q9NWJ0|Q9UPB0	Missense_Mutation	SNP	ENST00000265062.3	37	CCDS3052.1	.	.	.	.	.	.	.	.	.	.	A	8.391	0.839664	0.16891	.	.	ENSG00000075785	ENST00000265062;ENST00000482525;ENST00000464496;ENST00000490093;ENST00000483906;ENST00000485280	T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.0	5.84	4.68	0.58851	Small GTP-binding protein domain (1);	.	.	.	.	T	0.59662	0.2210	N	0.11131	0.1	0.58432	D	0.999994	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.001	T	0.51911	-0.8645	9	0.27082	T	0.32	.	11.7988	0.52114	0.9315:0.0:0.0685:0.0	.	51;51	C9J8S3;P51149	.;RAB7A_HUMAN	L	51	ENSP00000265062:M51L;ENSP00000417668:M51L;ENSP00000417978:M51L;ENSP00000418955:M51L;ENSP00000417155:M51L;ENSP00000418283:M51L	ENSP00000265062:M51L	M	+	1	0	RAB7A	129999573	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.523000	0.90576	1.044000	0.40200	0.533000	0.62120	ATG		0.443	RAB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357479.1			
RBM28	55131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	127975595	127975595	+	Splice_Site	SNP	A	A	C			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr7:127975595A>C	ENST00000223073.2	-	8	1061		c.e8+1		RBM28_ENST00000415472.2_Splice_Site	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.?(1)		breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						ATCCAAACAAACCTTTATCCT	0.388																																																	1	Unknown(1)	kidney(1)											92.0	86.0	88.0					7																	127975595		2203	4300	6503	SO:0001630	splice_region_variant	55131			AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.946+1T>G	7.37:g.127975595A>C		Somatic		WXS	Illumina HiSeq	Phase_I	A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Splice_Site	SNP	ENST00000223073.2	37	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.430868	0.25726	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2841	0.54783	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RBM28	127762831	1.000000	0.71417	0.990000	0.47175	0.043000	0.13939	4.054000	0.57434	2.157000	0.67596	0.533000	0.62120	.		0.388	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2		NM_018077	Intron
RNF186	54546	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	20141319	20141319	+	Silent	SNP	G	G	C	rs138663359	byFrequency	TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr1:20141319G>C	ENST00000375121.2	-	1	452	c.276C>G	c.(274-276)ccC>ccG	p.P92P	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	92						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.P92P(1)		kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGGCCCCCGGGGACGGCGG	0.667																																																	1	Substitution - coding silent(1)	kidney(1)																																								SO:0001819	synonymous_variant	54546				CCDS199.1	1p36.13	2008-02-05			ENSG00000178828	ENSG00000178828		"""RING-type (C3HC4) zinc fingers"""	25978	protein-coding gene	gene with protein product	"""hypothetical protein FLJ20225"""					12477932	Standard	NM_019062		Approved	FLJ20225	uc001bcr.3	Q9NXI6	OTTHUMG00000002709	ENST00000375121.2:c.276C>G	1.37:g.20141319G>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q53GE0	Silent	SNP	ENST00000375121.2	37	CCDS199.1																																																																																				0.667	RNF186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007694.1		NM_019062	
ROS1	6098	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	117681074	117681074	+	Silent	SNP	T	T	C			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr6:117681074T>C	ENST00000368508.3	-	23	3744	c.3546A>G	c.(3544-3546)agA>agG	p.R1182R	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.R1177R	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1182					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R1182R(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CACTGATAACTCTTTCTGCTG	0.403			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	2	Substitution - coding silent(2)	kidney(2)											152.0	144.0	147.0					6																	117681074		2203	4300	6503	SO:0001819	synonymous_variant	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.3546A>G	6.37:g.117681074T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	CCDS5116.1																																																																																				0.403	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			
RPS13	6207	broad.mit.edu;hgsc.bcm.edu	37	11	17098784	17098784	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr11:17098784A>C	ENST00000525634.1	-	3	227	c.82T>G	c.(82-84)Ttg>Gtg	p.L28V	SNORD14A_ENST00000606526.1_RNA|RPS13_ENST00000228140.2_Missense_Mutation_p.L28V|SNORD14B_ENST00000364533.1_RNA|RPS13_ENST00000526895.1_5'UTR|PIK3C2A_ENST00000531428.1_5'Flank			P62277	RS13_HUMAN	ribosomal protein S13	28					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of RNA splicing (GO:0033119)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.L28V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						TCAGATGTCAACTTCAACCAC	0.498																																																	1	Substitution - Missense(1)	kidney(1)											113.0	106.0	108.0					11																	17098784		2200	4294	6494	SO:0001583	missense	6207			X79239	CCDS7823.1	11p	2011-04-05			ENSG00000110700	ENSG00000110700		"""S ribosomal proteins"""	10386	protein-coding gene	gene with protein product	"""40S ribosomal protein S13"""	180476				8332508, 9582194	Standard	NM_001017		Approved	S13	uc001mmp.3	P62277	OTTHUMG00000165988	ENST00000525634.1:c.82T>G	11.37:g.17098784A>C	ENSP00000435777:p.Leu28Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2R549|P19116|Q02546|Q29200|Q498Y0	Missense_Mutation	SNP	ENST00000525634.1	37	CCDS7823.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.052860	0.55218	.	.	ENSG00000110700	ENST00000228140;ENST00000525634;ENST00000533969	T	0.25414	1.8	5.7	-3.2	0.05156	Ribosomal protein S13/S15, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.17534	0.0421	L	0.31120	0.905	0.51482	D	0.999921	B	0.02656	0.0	B	0.04013	0.001	T	0.06643	-1.0815	10	0.34782	T	0.22	-3.5425	17.0228	0.86438	0.1688:0.0:0.8312:0.0	.	28	P62277	RS13_HUMAN	V	28	ENSP00000432096:L28V	ENSP00000228140:L28V	L	-	1	2	RPS13	17055360	1.000000	0.71417	0.988000	0.46212	0.904000	0.53231	1.663000	0.37429	-0.478000	0.06823	0.460000	0.39030	TTG		0.498	RPS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387320.2		NM_001017	
RUFY2	55680	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	70141061	70141061	+	Silent	SNP	A	A	G			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr10:70141061A>G	ENST00000602465.1	-	11	1135	c.1035T>C	c.(1033-1035)gaT>gaC	p.D345D	RUFY2_ENST00000454950.2_Silent_p.D287D|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000399200.2_Silent_p.D311D|RUFY2_ENST00000388768.2_Silent_p.D380D			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	394						nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.D380D(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						CTATCAGAGTATCTTGTTTCT	0.363																																																	1	Substitution - coding silent(1)	kidney(1)											224.0	202.0	209.0					10																	70141061		1884	4129	6013	SO:0001819	synonymous_variant	55680			AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.1035T>C	10.37:g.70141061A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Silent	SNP	ENST00000602465.1	37																																																																																					0.363	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1		NM_017987	
SH3PXD2B	285590	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	171789871	171789871	+	Missense_Mutation	SNP	C	C	T	rs368080609	byFrequency	TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr5:171789871C>T	ENST00000311601.5	-	7	600	c.430G>A	c.(430-432)Ggt>Agt	p.G144S	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.G144S	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	144					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)	p.G144S(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTTTGGTCACCCCCTGTGGAT	0.547																																																	1	Substitution - Missense(1)	kidney(1)											109.0	96.0	100.0					5																	171789871		2203	4300	6503	SO:0001583	missense	285590			AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.430G>A	5.37:g.171789871C>T	ENSP00000309714:p.Gly144Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B6F0V2|Q9P2Q1	Missense_Mutation	SNP	ENST00000311601.5	37	CCDS34291.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025003	0.35701	.	.	ENSG00000174705	ENST00000519643;ENST00000311601	T;T	0.60797	0.41;0.16	5.26	2.9	0.33743	.	1.520140	0.04222	N	0.333638	T	0.42017	0.1184	N	0.24115	0.695	0.40764	D	0.983032	B	0.06786	0.001	B	0.10450	0.005	T	0.25710	-1.0124	10	0.07482	T	0.82	-2.869	7.6373	0.28274	0.0:0.7219:0.0:0.2781	.	144	A1X283	SPD2B_HUMAN	S	144	ENSP00000430890:G144S;ENSP00000309714:G144S	ENSP00000309714:G144S	G	-	1	0	SH3PXD2B	171722476	0.995000	0.38212	0.849000	0.33467	0.920000	0.55202	2.910000	0.48766	0.286000	0.22352	0.655000	0.94253	GGT		0.547	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1		NM_017963	
SLC4A2	6522	hgsc.bcm.edu;ucsc.edu	37	7	150771368	150771369	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr7:150771368_150771369insT	ENST00000485713.1	+	17	3818_3819	c.2778_2779insT	c.(2779-2781)tttfs	p.F927fs	SLC4A2_ENST00000461735.1_Frame_Shift_Ins_p.F913fs|FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000310317.5_Frame_Shift_Ins_p.F845fs|SLC4A2_ENST00000413384.2_Frame_Shift_Ins_p.F927fs|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000392826.2_Frame_Shift_Ins_p.F918fs	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	927	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACAGCCGGTTCTTTCCTGGCCG	0.644																																																	0																																										SO:0001589	frameshift_variant	6522				CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2781dupT	7.37:g.150771371_150771371dupT	ENSP00000419412:p.Phe927fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Frame_Shift_Ins	INS	ENST00000485713.1	37	CCDS5917.1																																																																																				0.644	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1		NM_003040	
SLC6A7	6534	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	149583511	149583511	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr5:149583511G>C	ENST00000230671.2	+	10	1613	c.1242G>C	c.(1240-1242)gaG>gaC	p.E414D	SLC6A7_ENST00000524041.1_Missense_Mutation_p.E414D	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	414					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)	p.E414D(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TGACAGATGAGTTCCCATACT	0.552																																																	1	Substitution - Missense(1)	kidney(1)											102.0	74.0	83.0					5																	149583511		2203	4300	6503	SO:0001583	missense	6534			S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.1242G>C	5.37:g.149583511G>C	ENSP00000230671:p.Glu414Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q0VG81|Q52LU6	Missense_Mutation	SNP	ENST00000230671.2	37	CCDS4305.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.519182	0.64634	.	.	ENSG00000011083	ENST00000230671;ENST00000524041	T;T	0.75367	-0.93;-0.93	5.04	0.12	0.14691	.	0.000000	0.85682	D	0.000000	D	0.82834	0.5123	M	0.77712	2.385	0.45342	D	0.998335	D	0.67145	0.996	D	0.72338	0.977	T	0.81409	-0.0946	10	0.62326	D	0.03	.	10.4209	0.44350	0.5322:0.0:0.4678:0.0	.	414	Q99884	SC6A7_HUMAN	D	414	ENSP00000230671:E414D;ENSP00000428200:E414D	ENSP00000230671:E414D	E	+	3	2	SLC6A7	149563704	0.993000	0.37304	0.944000	0.38274	0.939000	0.58152	0.285000	0.18883	-0.050000	0.13356	0.561000	0.74099	GAG		0.552	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1		NM_014228	
SPHK2	56848	broad.mit.edu;hgsc.bcm.edu	37	19	49129225	49129225	+	Silent	SNP	G	G	A	rs71335810		TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr19:49129225G>A	ENST00000245222.4	+	3	483	c.117G>A	c.(115-117)ccG>ccA	p.P39P	SPHK2_ENST00000443164.1_Silent_p.P101P|SPHK2_ENST00000599029.1_Silent_p.P3P|SPHK2_ENST00000600537.1_Intron|SPHK2_ENST00000601712.1_Silent_p.P3P|SPHK2_ENST00000599748.1_Silent_p.P3P|AC022154.7_ENST00000594850.1_RNA|SPHK2_ENST00000340932.3_Silent_p.P3P|AC022154.7_ENST00000600303.1_RNA|AC022154.7_ENST00000598735.1_RNA|SPHK2_ENST00000599033.1_Intron|SPHK2_ENST00000598088.1_Silent_p.P39P	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	39	Required for binding to sulfatide and phosphoinositides and for membrane localization.				blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)	p.P39P(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CCATGGCCCCGCCCCCACCGC	0.692																																																	1	Substitution - coding silent(1)	kidney(1)											25.0	25.0	25.0					19																	49129225		2201	4294	6495	SO:0001819	synonymous_variant	56848			AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.117G>A	19.37:g.49129225G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Silent	SNP	ENST00000245222.4	37	CCDS12727.1																																																																																				0.692	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			
SPRED1	161742	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	38616982	38616982	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr15:38616982A>G	ENST00000299084.4	+	4	1255	c.395A>G	c.(394-396)aAt>aGt	p.N132S	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	132					inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.N132S(1)		kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GAATCAAAAAATGAAGCTGAA	0.313									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)												1	Substitution - Missense(1)	kidney(1)											28.0	30.0	29.0					15																	38616982		2199	4294	6493	SO:0001583	missense	161742	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.395A>G	15.37:g.38616982A>G	ENSP00000299084:p.Asn132Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	ENST00000299084.4	37	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.275776	0.23307	.	.	ENSG00000166068	ENST00000299084	T	0.72167	-0.63	4.05	-3.13	0.05266	.	1.067080	0.07050	N	0.831851	T	0.53530	0.1802	L	0.48642	1.525	0.22112	N	0.999353	B	0.12013	0.005	B	0.11329	0.006	T	0.29941	-0.9995	10	0.15952	T	0.53	-18.3359	1.2587	0.01997	0.3395:0.2986:0.0884:0.2736	.	132	Q7Z699	SPRE1_HUMAN	S	132	ENSP00000299084:N132S	ENSP00000299084:N132S	N	+	2	0	SPRED1	36404274	0.990000	0.36364	0.984000	0.44739	0.993000	0.82548	-0.012000	0.12699	-0.589000	0.05874	0.533000	0.62120	AAT		0.313	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1			
STARD6	147323	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	51863590	51863590	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr18:51863590G>T	ENST00000581310.1	-	6	545	c.172C>A	c.(172-174)Cca>Aca	p.P58T	STARD6_ENST00000307844.3_Missense_Mutation_p.P58T|STARD6_ENST00000580990.2_5'UTR			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	58	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)	p.P58T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		AGTTTAGCTGGTGATTCTGGA	0.313																																																	1	Substitution - Missense(1)	kidney(1)											145.0	132.0	137.0					18																	51863590		2202	4298	6500	SO:0001583	missense	147323			AF480305	CCDS11955.1	18q21.2	2011-09-12	2007-08-16		ENSG00000174448	ENSG00000174448		"""StAR-related lipid transfer (START) domain containing"""	18066	protein-coding gene	gene with protein product		607051	"""START domain containing 6"""			12011452	Standard	NM_139171		Approved		uc010xdt.2	P59095	OTTHUMG00000132702	ENST00000581310.1:c.172C>A	18.37:g.51863590G>T	ENSP00000462349:p.Pro58Thr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000581310.1	37	CCDS11955.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.664866	0.00107	.	.	ENSG00000174448	ENST00000307844	T	0.51817	0.69	5.4	-10.8	0.00216	Lipid-binding START (3);START-like domain (1);	0.952109	0.08680	N	0.909525	T	0.19366	0.0465	N	0.12637	0.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14476	-1.0471	10	0.38643	T	0.18	.	4.0506	0.09793	0.2031:0.3949:0.2922:0.1098	.	58	P59095	STAR6_HUMAN	T	58	ENSP00000310814:P58T	ENSP00000310814:P58T	P	-	1	0	STARD6	50117588	0.007000	0.16637	0.003000	0.11579	0.139000	0.21198	-2.053000	0.01400	-2.856000	0.00329	-2.246000	0.00285	CCA		0.313	STARD6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256000.3		NM_139171	
TACC1	6867	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	38677391	38677391	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr8:38677391A>C	ENST00000317827.4	+	3	1008	c.629A>C	c.(628-630)gAa>gCa	p.E210A	TACC1_ENST00000348567.4_Intron|TACC1_ENST00000379931.3_Missense_Mutation_p.E210A|TACC1_ENST00000520340.1_Missense_Mutation_p.E174A|TACC1_ENST00000443286.2_Missense_Mutation_p.E226A|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520973.1_Missense_Mutation_p.E15A|TACC1_ENST00000519416.1_Missense_Mutation_p.E15A|TACC1_ENST00000518415.1_Missense_Mutation_p.E165A|TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520615.1_Missense_Mutation_p.E15A|TACC1_ENST00000330691.6_Intron	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	210	Interaction with TDRD7.|Interaction with YEATS4.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.E210A(2)		breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			GCCTCCGCAGAAGCTGATCTA	0.597																																																	2	Substitution - Missense(2)	kidney(2)											35.0	37.0	37.0					8																	38677391		2202	4299	6501	SO:0001583	missense	6867			AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.629A>C	8.37:g.38677391A>C	ENSP00000321703:p.Glu210Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	ENST00000317827.4	37	CCDS6109.1	.	.	.	.	.	.	.	.	.	.	A	8.649	0.897879	0.17686	.	.	ENSG00000147526	ENST00000519416;ENST00000520615;ENST00000443388;ENST00000443286;ENST00000518415;ENST00000522904;ENST00000317827;ENST00000379931;ENST00000521528;ENST00000520973;ENST00000521935;ENST00000524193	T;T;T;T;T;T;T;T;T;T	0.42900	2.74;2.74;2.89;2.88;2.71;2.91;2.92;2.74;1.29;0.96	5.09	5.09	0.68999	.	0.307770	0.31145	N	0.008164	T	0.44787	0.1310	L	0.58101	1.795	0.09310	N	1	P;B;B;B;P;B;P;P	0.49559	0.925;0.075;0.421;0.421;0.763;0.293;0.792;0.873	P;B;B;B;B;B;B;B	0.49597	0.616;0.027;0.04;0.058;0.218;0.079;0.257;0.356	T	0.37842	-0.9688	10	0.29301	T	0.29	-7.4314	8.6282	0.33904	0.9117:0.0:0.0883:0.0	.	15;15;15;226;210;210;15;165	B7Z3G3;E7EVI4;B4DH49;B4E302;O75410-2;O75410;E7ET87;O75410-7	.;.;.;.;.;TACC1_HUMAN;.;.	A	15;15;15;226;165;182;210;210;15;15;15;15	ENSP00000428687:E15A;ENSP00000428450:E15A;ENSP00000393647:E226A;ENSP00000428706:E165A;ENSP00000430355:E182A;ENSP00000321703:E210A;ENSP00000369263:E210A;ENSP00000430959:E15A;ENSP00000428175:E15A;ENSP00000429330:E15A	ENSP00000321703:E210A	E	+	2	0	TACC1	38796548	0.512000	0.26186	0.482000	0.27366	0.032000	0.12392	1.295000	0.33377	1.921000	0.55644	0.456000	0.33151	GAA		0.597	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1		NM_006283	
TGM3	7053	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	2312884	2312884	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr20:2312884A>G	ENST00000381458.5	+	10	1633	c.1570A>G	c.(1570-1572)Atc>Gtc	p.I524V		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	524					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)	p.I524V(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	AGCCTGGACCATCATCTACAA	0.527																																																	1	Substitution - Missense(1)	kidney(1)											122.0	96.0	105.0					20																	2312884		2203	4300	6503	SO:0001583	missense	7053			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1570A>G	20.37:g.2312884A>G	ENSP00000370867:p.Ile524Val	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	A	15.62	2.887677	0.52014	.	.	ENSG00000125780	ENST00000381458	T	0.61158	0.13	5.3	5.3	0.74995	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.120354	0.64402	D	0.000013	T	0.54367	0.1854	M	0.69823	2.125	0.41280	D	0.986906	P	0.41597	0.756	B	0.37550	0.253	T	0.56300	-0.8002	10	0.25106	T	0.35	-12.2151	13.2379	0.59979	1.0:0.0:0.0:0.0	.	524	Q08188	TGM3_HUMAN	V	524	ENSP00000370867:I524V	ENSP00000370867:I524V	I	+	1	0	TGM3	2260884	0.999000	0.42202	1.000000	0.80357	0.865000	0.49528	3.868000	0.56055	2.225000	0.72522	0.533000	0.62120	ATC		0.527	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2		NM_003245	
THBS2	7058	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	169648851	169648851	+	Silent	SNP	G	G	C			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr6:169648851G>C	ENST00000366787.3	-	4	519	c.270C>G	c.(268-270)ctC>ctG	p.L90L		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	90	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.L90L(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CGTCCTGCTTGAGCTGGGCCG	0.627																																					Esophageal Squamous(91;219 1934 18562 44706)												1	Substitution - coding silent(1)	kidney(1)											124.0	106.0	112.0					6																	169648851		2203	4300	6503	SO:0001819	synonymous_variant	7058				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.270C>G	6.37:g.169648851G>C		Somatic		WXS	Illumina HiSeq	Phase_I	A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	CCDS34574.1																																																																																				0.627	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1		NM_003247	
TIPARP	25976	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	156421359	156421359	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr3:156421359T>A	ENST00000461166.1	+	5	1982	c.1394T>A	c.(1393-1395)gTc>gAc	p.V465D	TIPARP_ENST00000542783.1_Missense_Mutation_p.V465D|TIPARP_ENST00000295924.7_Missense_Mutation_p.V465D|TIPARP_ENST00000486483.1_Missense_Mutation_p.V465D	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	465	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.V465D(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTCATCCAAGTCCCTGTTTCT	0.383																																					Ovarian(171;276 1987 3319 6837 11197)												1	Substitution - Missense(1)	kidney(1)											98.0	100.0	99.0					3																	156421359		2203	4300	6503	SO:0001583	missense	25976			BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1394T>A	3.37:g.156421359T>A	ENSP00000420612:p.Val465Asp	Somatic		WXS	Illumina HiSeq	Phase_I	D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Missense_Mutation	SNP	ENST00000461166.1	37	CCDS3177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.4|26.4	4.737448|4.737448	0.89482|0.89482	.|.	.|.	ENSG00000163659|ENSG00000163659	ENST00000495891|ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783	.|T;T;T;T;T;T	.|0.15372	.|2.43;2.43;2.43;2.43;2.43;2.43	5.35|5.35	5.35|5.35	0.76521|0.76521	.|Poly(ADP-ribose) polymerase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.45836|0.45836	0.1362|0.1362	M|M	0.83384|0.83384	2.64|2.64	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.77557	.|0.99	T|T	0.52049|0.52049	-0.8627|-0.8627	5|10	.|0.87932	.|D	.|0	.|.	14.9953|14.9953	0.71428|0.71428	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|465	.|Q7Z3E1	.|PARPT_HUMAN	R|D	167|465	.|ENSP00000418757:V465D;ENSP00000295924:V465D;ENSP00000420612:V465D;ENSP00000419982:V465D;ENSP00000418829:V465D;ENSP00000438345:V465D	.|ENSP00000295924:V465D	S|V	+|+	3|2	2|0	TIPARP|TIPARP	157904053|157904053	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.040000|8.040000	0.89188|0.89188	2.018000|2.018000	0.59344|0.59344	0.528000|0.528000	0.53228|0.53228	AGT|GTC		0.383	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1		NM_015508	
TMPRSS9	360200	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	2422196	2422196	+	Silent	SNP	G	G	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr19:2422196G>A	ENST00000332578.3	+	13	2397	c.2397G>A	c.(2395-2397)caG>caA	p.Q799Q		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	799					plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.Q799Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTAGGGGACAGACGCCATTTC	0.647																																																	1	Substitution - coding silent(1)	kidney(1)											81.0	89.0	86.0					19																	2422196		2203	4300	6503	SO:0001819	synonymous_variant	360200			AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.2397G>A	19.37:g.2422196G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZND6|Q7Z411	Silent	SNP	ENST00000332578.3	37	CCDS12088.1																																																																																				0.647	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3		NM_182973	
TTLL1	25809	broad.mit.edu;ucsc.edu	37	22	43464519	43464519	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr22:43464519T>G	ENST00000266254.7	-	5	640	c.400A>C	c.(400-402)Acc>Ccc	p.T134P	TTLL1_ENST00000331018.7_Missense_Mutation_p.T134P	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	134	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)	p.T134P(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		ATGATCCAGGTGCTGGACGGG	0.527																																																	1	Substitution - Missense(1)	kidney(1)											184.0	183.0	183.0					22																	43464519		2203	4300	6503	SO:0001583	missense	25809			AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.400A>C	22.37:g.43464519T>G	ENSP00000266254:p.Thr134Pro	Somatic		WXS	Illumina GAIIx	Phase_I	B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Missense_Mutation	SNP	ENST00000266254.7	37	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	T	17.82	3.481985	0.63849	.	.	ENSG00000100271	ENST00000331018;ENST00000266254	T;T	0.02552	4.25;4.25	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.07188	0.0182	M	0.70903	2.155	0.80722	D	1	B;B	0.24882	0.113;0.105	B;B	0.33750	0.105;0.169	T	0.19031	-1.0318	10	0.32370	T	0.25	.	15.6775	0.77338	0.0:0.0:0.0:1.0	.	134;134	O95922-4;O95922	.;TTLL1_HUMAN	P	134	ENSP00000333734:T134P;ENSP00000266254:T134P	ENSP00000266254:T134P	T	-	1	0	TTLL1	41794463	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.614000	0.82996	2.104000	0.64026	0.533000	0.62120	ACC		0.527	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1		NM_012263	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179435668	179435668	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr2:179435668G>C	ENST00000591111.1	-	276	70492	c.70268C>G	c.(70267-70269)aCt>aGt	p.T23423S	TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T22496S|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T25064S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T16124S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T16191S|TTN_ENST00000460472.2_Missense_Mutation_p.T15999S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23423	Fibronectin type-III 70. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T16191S(1)|p.T22494S(1)|p.T15999S(1)|p.T16124S(1)|p.T22496S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAAAATGAGTGTCAATAAT	0.423																																																	5	Substitution - Missense(5)	kidney(5)											151.0	147.0	149.0					2																	179435668		1849	4104	5953	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.70268C>G	2.37:g.179435668G>C	ENSP00000465570:p.Thr23423Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	11.71	1.720240	0.30503	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.52	4.63	0.57726	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70254	0.3203	M	0.84511	2.7	0.49687	D	0.999815	P;P;P;P	0.47484	0.896;0.896;0.896;0.822	P;P;P;P	0.48368	0.575;0.575;0.575;0.478	T	0.78041	-0.2359	9	0.87932	D	0	.	16.8893	0.86083	0.0:0.1281:0.8719:0.0	.	15999;16124;16191;23423	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	22496;15999;16191;16124;15997	ENSP00000343764:T22496S;ENSP00000434586:T15999S;ENSP00000340554:T16191S;ENSP00000352154:T16124S	ENSP00000340554:T16191S	T	-	2	0	TTN	179143914	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.882000	0.87258	1.433000	0.47394	0.650000	0.86243	ACT		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
VAC14	55697	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	70816984	70816984	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr16:70816984T>C	ENST00000261776.5	-	7	1023	c.763A>G	c.(763-765)Aag>Gag	p.K255E		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	255					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)	p.K255E(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TCAGCAAACTTCACACTGGAG	0.517																																																	1	Substitution - Missense(1)	kidney(1)											131.0	136.0	134.0					16																	70816984		2198	4300	6498	SO:0001583	missense	55697			AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.763A>G	16.37:g.70816984T>C	ENSP00000261776:p.Lys255Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	37	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852682	0.71719	.	.	ENSG00000103043	ENST00000261776	T	0.65916	-0.18	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.51261	0.1664	L	0.31371	0.925	0.80722	D	1	B	0.19706	0.038	B	0.24394	0.053	T	0.45071	-0.9286	10	0.22109	T	0.4	-30.2485	15.4105	0.74914	0.0:0.0:0.0:1.0	.	255	Q08AM6	VAC14_HUMAN	E	255	ENSP00000261776:K255E	ENSP00000261776:K255E	K	-	1	0	VAC14	69374485	1.000000	0.71417	0.987000	0.45799	0.992000	0.81027	7.679000	0.84048	2.046000	0.60703	0.459000	0.35465	AAG		0.517	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3		NM_018052	
VHL	7428	broad.mit.edu;ucsc.edu	37	3	10183745	10183746	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	-	-	-	CC	-	-	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr3:10183745_10183746insCC	ENST00000256474.2	+	1	1054_1055	c.214_215insCC	c.(214-216)tccfs	p.S72fs	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Frame_Shift_Ins_p.S72fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	72			Missing (in VHLD; type I).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.E70fs*85(1)|p.S72_V87>L(1)|p.P71fs*84(1)|p.Q73fs*86(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.P71fs*56(1)|p.S72P(1)|p.E70_S72>A(1)|p.V74fs*51(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GCGCGAGCCCTCCCAGGTCATC	0.723		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	10	Deletion - Frameshift(6)|Complex - deletion inframe(2)|Substitution - Missense(1)|Deletion - In frame(1)	kidney(9)|soft_tissue(1)	GRCh37	CD962175|CM071138	VHL	D|M																																				SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.215_216dupCC	3.37:g.10183746_10183747dupCC	ENSP00000256474:p.Ser72fs	Somatic		WXS	Illumina GAIIx	Phase_I	B2RE45|Q13599|Q6PDA9	Frame_Shift_Ins	INS	ENST00000256474.2	37	CCDS2597.1																																																																																				0.723	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
VSIG2	23584	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	124619711	124619711	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr11:124619711C>T	ENST00000326621.5	-	4	579	c.479G>A	c.(478-480)gGc>gAc	p.G160D	VSIG2_ENST00000403470.1_Missense_Mutation_p.G160D	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	160	Ig-like C2-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.G160D(1)		central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		TGCAGTAGAGCCTCCCACAGA	0.473																																																	1	Substitution - Missense(1)	kidney(1)											68.0	68.0	68.0					11																	124619711		2201	4299	6500	SO:0001583	missense	23584			AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.479G>A	11.37:g.124619711C>T	ENSP00000318684:p.Gly160Asp	Somatic		WXS	Illumina HiSeq	Phase_I	O95791|Q9NX42	Missense_Mutation	SNP	ENST00000326621.5	37	CCDS8452.1	.	.	.	.	.	.	.	.	.	.	C	9.008	0.981828	0.18812	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.14266	2.52;2.52	5.18	5.18	0.71444	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.167764	0.41294	D	0.000901	T	0.14787	0.0357	N	0.13098	0.295	0.41136	D	0.985928	D	0.61080	0.989	P	0.58454	0.839	T	0.08868	-1.0701	10	0.08837	T	0.75	.	14.0585	0.64786	0.0:1.0:0.0:0.0	.	160	Q96IQ7	VSIG2_HUMAN	D	160	ENSP00000318684:G160D;ENSP00000385013:G160D	ENSP00000318684:G160D	G	-	2	0	VSIG2	124124921	0.662000	0.27439	0.988000	0.46212	0.487000	0.33371	1.683000	0.37638	2.680000	0.91292	0.655000	0.94253	GGC		0.473	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1		NM_014312	
ZFHX4	79776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	77617698	77617698	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr8:77617698G>A	ENST00000521891.2	+	2	1823	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K	ZFHX4_ENST00000455469.2_Missense_Mutation_p.E459K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E459K|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E459K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.E459K(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCCAAACGGGGAGTGCCCTGT	0.473										HNSCC(33;0.089)																																							1	Substitution - Missense(1)	kidney(1)											70.0	70.0	70.0					8																	77617698		2008	4176	6184	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1375G>A	8.37:g.77617698G>A	ENSP00000430497:p.Glu459Lys	Somatic		WXS	Illumina HiSeq	Phase_I	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025971	0.35701	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50001	0.76;0.82;0.79;0.78	5.65	5.65	0.86999	.	0.154762	0.29451	U	0.012106	T	0.37293	0.0998	N	0.24115	0.695	0.58432	D	0.999999	B;B;B;B	0.34329	0.181;0.449;0.277;0.081	B;B;B;B	0.29077	0.045;0.098;0.098;0.068	T	0.23368	-1.0190	10	0.51188	T	0.08	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	459;459;459;459	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	K	459	ENSP00000430497:E459K;ENSP00000399605:E459K;ENSP00000050961:E459K;ENSP00000430848:E459K	ENSP00000050961:E459K	E	+	1	0	ZFHX4	77780253	1.000000	0.71417	0.991000	0.47740	0.984000	0.73092	6.781000	0.75068	2.941000	0.99782	0.655000	0.94253	GAG		0.473	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2		NM_024721	
BZW1	9689	broad.mit.edu	37	2	201684787	201684787	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr2:201684787A>C	ENST00000409600.1	+	10	1504	c.1049A>C	c.(1048-1050)tAt>tCt	p.Y350S	BZW1_ENST00000452790.2_Missense_Mutation_p.Y382S|BZW1_ENST00000409226.1_Missense_Mutation_p.Y354S	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	350	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.Y382S(1)|p.?(1)		breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						GAGTATTGCTATGACAACATT	0.343																																																	2	Substitution - Missense(1)|Unknown(1)	kidney(2)											31.0	26.0	28.0					2																	201684787		1804	4053	5857	SO:0001583	missense	9689			D13630	CCDS56154.1, CCDS56155.1, CCDS56156.1	2q33	2010-04-09			ENSG00000082153	ENSG00000082153			18380	protein-coding gene	gene with protein product						10964520, 11524015	Standard	NM_001207067		Approved	BZAP45, KIAA0005	uc021vus.1	Q7L1Q6	OTTHUMG00000154560	ENST00000409600.1:c.1049A>C	2.37:g.201684787A>C	ENSP00000386474:p.Tyr350Ser	Somatic		WXS	Illumina GAIIx	Phase_I	B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0	Missense_Mutation	SNP	ENST00000409600.1	37	CCDS56156.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.579774	0.86645	.	.	ENSG00000082153	ENST00000409600;ENST00000409226;ENST00000452790	T;T;T	0.80214	-1.35;-1.35;-1.35	5.76	5.76	0.90799	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	.	.	.	.	D	0.89832	0.6829	M	0.81802	2.56	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.72982	0.979;0.97	D	0.90671	0.4598	9	0.59425	D	0.04	-20.2253	16.3786	0.83431	1.0:0.0:0.0:0.0	.	382;350	B4DLZ8;Q7L1Q6	.;BZW1_HUMAN	S	350;354;382	ENSP00000386474:Y350S;ENSP00000386837:Y354S;ENSP00000394316:Y382S	ENSP00000386837:Y354S	Y	+	2	0	BZW1	201393032	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.230000	0.95299	2.323000	0.78572	0.528000	0.53228	TAT		0.343	BZW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335975.1		NM_014670	
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	TAGCTGCTACCTCCGGAGCCA	-	rs371843007|rs77846840|rs540699806|rs267607656	byFrequency	TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	TAGCTGCTACCTCCGGAGCCA	TAGCTGCTACCTCCGGAGCCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENST00000252244.3	-	9	1714_1734	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tatggctccggaggtagcagctac>tac	p.552_559YGSGGSSY>Y		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	552	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tccggagccgtagctgctacctccggagccatagctgccac	0.688																																																	3	Deletion - In frame(3)	prostate(2)|central_nervous_system(1)								1239,2109		396,447,831				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		-4.4	0.0		dbSNP_129	4	2732,4060		826,1080,1490	no	coding	KRT1	NM_006121.3		1222,1527,2321	A1A1,A1R,RR		40.2238,37.0072,39.1617				3971,6169				SO:0001651	inframe_deletion	3848			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	12.37:g.53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENSP00000252244:p.Tyr552_Ser558del	Somatic		WXS	Illumina GAIIx	Phase_I	B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	In_Frame_Del	DEL	ENST00000252244.3	37	CCDS8836.1																																																																																				0.688	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1		NM_006121	
LILRP2	79166	broad.mit.edu	37	19	55221840	55221840	+	RNA	SNP	A	A	G			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr19:55221840A>G	ENST00000413439.1	+	0	1415									leukocyte immunoglobulin-like receptor pseudogene 2																		GGGAGGTGTCAGCTCAGAACG	0.637																																					Ovarian(107;788 1543 20399 31552 46707)												0																																												79166			AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221840A>G		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000413439.1	37																																																																																					0.637	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2		NM_024317	
TCERG1	10915	broad.mit.edu	37	5	145878250	145878250	+	Splice_Site	SNP	G	G	A			TCGA-B0-5085-01A-01D-1462-08	TCGA-B0-5085-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a36e36ee-48f3-4674-a9f3-a121a09535c5	d83d2175-b165-4ace-82d4-c72083ba8bf2	g.chr5:145878250G>A	ENST00000296702.5	+	16	2420		c.e16+1		TCERG1_ENST00000394421.2_Splice_Site	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)	p.?(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTGAGAAGGTAAGATGGTT	0.403																																																	1	Unknown(1)	kidney(1)											100.0	111.0	108.0					5																	145878250		2203	4300	6503	SO:0001630	splice_region_variant	10915			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.2382+1G>A	5.37:g.145878250G>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q2NKN2|Q59EA1	Splice_Site	SNP	ENST00000296702.5	37	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009517	0.75046	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	.	.	.	5.96	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4384	0.83889	0.0:0.0:0.8674:0.1326	.	.	.	.	.	-1	.	.	.	+	.	.	TCERG1	145858443	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.707000	0.98725	1.490000	0.48466	0.655000	0.94253	.		0.403	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1		NM_001040006	Intron
