#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
ADAMTS18	170692	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	77325284	77325284	+	Missense_Mutation	SNP	C	C	T	rs373807615		TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr16:77325284C>T	ENST00000282849.5	-	21	3699	c.3281G>A	c.(3280-3282)cGa>cAa	p.R1094Q	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1094	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R1094Q(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACGGCATCTTCGCTCTGGGAA	0.522																																																	2	Substitution - Missense(2)	kidney(1)|skin(1)											220.0	224.0	222.0					16																	77325284		2198	4300	6498	SO:0001583	missense	170692			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3281G>A	16.37:g.77325284C>T	ENSP00000282849:p.Arg1094Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588834	0.86851	.	.	ENSG00000140873	ENST00000282849	T	0.60920	0.15	5.8	4.85	0.62838	.	0.061993	0.64402	D	0.000009	T	0.66237	0.2769	L	0.57130	1.785	0.44500	D	0.997443	D	0.65815	0.995	P	0.62649	0.905	T	0.63093	-0.6714	10	0.23302	T	0.38	.	10.3536	0.43950	0.0:0.8513:0.0:0.1487	.	1094	Q8TE60	ATS18_HUMAN	Q	1094	ENSP00000282849:R1094Q	ENSP00000282849:R1094Q	R	-	2	0	ADAMTS18	75882785	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	5.131000	0.64751	1.470000	0.48102	0.563000	0.77884	CGA		0.522	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			
ADAMTS2	9509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	178555036	178555036	+	Silent	SNP	G	G	A			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr5:178555036G>A	ENST00000251582.7	-	17	2642	c.2541C>T	c.(2539-2541)aaC>aaT	p.N847N		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	847	Spacer.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N847N(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTTCCAGGACGTTGTTGTCGT	0.587																																																	1	Substitution - coding silent(1)	kidney(1)											203.0	164.0	177.0					5																	178555036		2203	4300	6503	SO:0001819	synonymous_variant	9509			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2541C>T	5.37:g.178555036G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000251582.7	37	CCDS4444.1																																																																																				0.587	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1		NM_014244	
ADCY6	112	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	49167327	49167327	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr12:49167327delT	ENST00000307885.4	-	15	3240	c.2546delA	c.(2545-2547)tatfs	p.Y849fs	ADCY6_ENST00000552090.1_5'Flank|ADCY6_ENST00000357869.3_Frame_Shift_Del_p.Y796fs|MIR4701_ENST00000583094.1_RNA|ADCY6_ENST00000550422.1_Frame_Shift_Del_p.Y796fs	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	849					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CAGCACCAAATAGATGAGCCC	0.512																																																	0													103.0	93.0	96.0					12																	49167327		2203	4300	6503	SO:0001589	frameshift_variant	112				CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.2546delA	12.37:g.49167327delT	ENSP00000311405:p.Tyr849fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q9NR75|Q9UDB0	Frame_Shift_Del	DEL	ENST00000307885.4	37	CCDS8767.1																																																																																				0.512	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1		NM_020983	
ANKRD7	56311	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	117876197	117876197	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr7:117876197C>T	ENST00000265224.4	+	4	726	c.571C>T	c.(571-573)Caa>Taa	p.Q191*	ANKRD7_ENST00000417525.1_Nonsense_Mutation_p.Q138*|ANKRD7_ENST00000357099.4_Nonsense_Mutation_p.Q211*|ANKRD7_ENST00000433239.1_Nonsense_Mutation_p.Q138*|ANKRD7_ENST00000477532.1_3'UTR	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	191					male gonad development (GO:0008584)	nucleus (GO:0005634)		p.Q211E(1)|p.Q211*(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						AGATAATTATCAAAGGTATAA	0.363																																																	2	Substitution - Missense(1)|Substitution - Nonsense(1)	lung(1)|kidney(1)											55.0	58.0	57.0					7																	117876197		1826	4079	5905	SO:0001587	stop_gained	56311			D78334	CCDS43638.1	7q31	2013-01-10			ENSG00000106013	ENSG00000106013		"""Ankyrin repeat domain containing"""	18588	protein-coding gene	gene with protein product	"""testis-specific ankyrin motif containing protein"""	610731				8812458	Standard	NM_019644		Approved	TSA806	uc003vji.3	Q92527	OTTHUMG00000156960	ENST00000265224.4:c.571C>T	7.37:g.117876197C>T	ENSP00000265224:p.Gln191*	Somatic		WXS	Illumina HiSeq	Phase_I	B4DYF5|Q96QN1|Q9UDM3	Nonsense_Mutation	SNP	ENST00000265224.4	37	CCDS43638.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360760	0.61403	.	.	ENSG00000106013	ENST00000357099;ENST00000265224;ENST00000417525;ENST00000433239	.	.	.	5.3	4.36	0.52297	.	0.283366	0.25214	N	0.032281	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-14.2401	9.0635	0.36449	0.1325:0.5826:0.2849:0.0	.	.	.	.	X	211;191;138;138	.	ENSP00000265224:Q191X	Q	+	1	0	ANKRD7	117663433	0.462000	0.25791	0.929000	0.37066	0.401000	0.30781	0.824000	0.27379	2.651000	0.90000	0.491000	0.48974	CAA		0.363	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346826.1		NM_001077708	
BCORL1	63035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	129147106	129147106	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chrX:129147106G>T	ENST00000218147.7	+	4	555	c.358G>T	c.(358-360)Gac>Tac	p.D120Y	BCORL1_ENST00000540052.1_Missense_Mutation_p.D120Y|BCORL1_ENST00000303743.5_Missense_Mutation_p.D120Y|BCORL1_ENST00000359304.2_Missense_Mutation_p.D120Y			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	120					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D120Y(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAGCCCAGGAGACGGGCTCAA	0.597																																																	1	Substitution - Missense(1)	kidney(1)											32.0	27.0	29.0					X																	129147106		2203	4299	6502	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.358G>T	X.37:g.129147106G>T	ENSP00000218147:p.Asp120Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741633	0.49151	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.52754	0.67;1.03;0.65;0.67	5.28	5.28	0.74379	.	0.000000	0.37348	N	0.002126	T	0.49915	0.1585	N	0.14661	0.345	0.33337	D	0.569319	D;D	0.89917	1.0;0.999	D;D	0.70935	0.971;0.936	T	0.63919	-0.6528	10	0.62326	D	0.03	-16.8593	12.4048	0.55432	0.0825:0.0:0.9175:0.0	.	120;120	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	Y	120	ENSP00000218147:D120Y;ENSP00000307541:D120Y;ENSP00000352253:D120Y;ENSP00000437775:D120Y	ENSP00000218147:D120Y	D	+	1	0	BCORL1	128974787	1.000000	0.71417	0.913000	0.36048	0.981000	0.71138	3.446000	0.52928	2.203000	0.70933	0.529000	0.55759	GAC		0.597	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1		NM_021946	
BMP3	651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	81967318	81967318	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr4:81967318C>T	ENST00000282701.2	+	2	1063	c.743C>T	c.(742-744)gCc>gTc	p.A248V		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	248					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)	p.A248V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						AATGATGCCGCCATTTCTGAG	0.478																																																	1	Substitution - Missense(1)	kidney(1)											97.0	98.0	98.0					4																	81967318		2203	4300	6503	SO:0001583	missense	651			M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.743C>T	4.37:g.81967318C>T	ENSP00000282701:p.Ala248Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.524927	0.64747	.	.	ENSG00000152785	ENST00000282701	T	0.79352	-1.26	5.08	5.08	0.68730	.	0.047430	0.85682	D	0.000000	D	0.86497	0.5947	M	0.82323	2.585	0.80722	D	1	D	0.65815	0.995	P	0.55615	0.78	D	0.87037	0.2138	10	0.48119	T	0.1	.	18.6092	0.91277	0.0:1.0:0.0:0.0	.	248	P12645	BMP3_HUMAN	V	248	ENSP00000282701:A248V	ENSP00000282701:A248V	A	+	2	0	BMP3	82186342	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	5.698000	0.68302	2.806000	0.96561	0.655000	0.94253	GCC		0.478	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			
CALCOCO1	57658	broad.mit.edu;ucsc.edu	37	12	54107576	54107576	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr12:54107576G>C	ENST00000550804.1	-	13	1760	c.1700C>G	c.(1699-1701)cCt>cGt	p.P567R	CALCOCO1_ENST00000430117.2_Missense_Mutation_p.P482R|CALCOCO1_ENST00000548263.1_Missense_Mutation_p.P567R|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.P567R			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	567	C-terminal AD (CTNNB1 binding site). {ECO:0000250}.				intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)	p.P567R(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						AGCCTCTCGAGGCCCAGCAGG	0.607																																																	1	Substitution - Missense(1)	kidney(1)											69.0	72.0	71.0					12																	54107576		2203	4300	6503	SO:0001583	missense	57658			AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.1700C>G	12.37:g.54107576G>C	ENSP00000449960:p.Pro567Arg	Somatic		WXS	Illumina GAIIx	Phase_I	B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	ENST00000550804.1	37	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	g	6.610	0.480881	0.12581	.	.	ENSG00000012822	ENST00000342760;ENST00000430117;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	3.88	2.01	0.26516	.	0.481870	0.15640	N	0.251930	T	0.22126	0.0533	L	0.52573	1.65	0.09310	N	0.999999	B;B;B;B;B;B	0.13145	0.0;0.006;0.0;0.0;0.007;0.001	B;B;B;B;B;B	0.15870	0.002;0.008;0.001;0.002;0.014;0.007	T	0.22243	-1.0222	10	0.72032	D	0.01	-2.4409	7.0746	0.25197	0.2195:0.0:0.7805:0.0	.	482;567;567;482;567;244	E9PAU0;Q9P1Z2-3;Q9P1Z2-2;E7EPK7;Q9P1Z2;E9PGB0	.;.;.;.;CACO1_HUMAN;.	R	244;482;567;505;567;567	ENSP00000397189:P482R;ENSP00000262059:P567R;ENSP00000447647:P567R;ENSP00000449960:P567R	ENSP00000262059:P567R	P	-	2	0	CALCOCO1	52393843	0.628000	0.27138	0.026000	0.17262	0.500000	0.33767	0.762000	0.26503	0.416000	0.25844	0.443000	0.29094	CCT		0.607	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2		NM_020898	
CCDC108	255101	broad.mit.edu;ucsc.edu	37	2	219886632	219886632	+	Silent	SNP	G	G	C			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr2:219886632G>C	ENST00000341552.5	-	18	3083	c.3000C>G	c.(2998-3000)gcC>gcG	p.A1000A	CCDC108_ENST00000441968.1_Silent_p.A1000A|CCDC108_ENST00000453220.1_Silent_p.A1000A	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1000						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.A1000A(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATTCCCAAAGGCCAGCTCCT	0.602																																																	1	Substitution - coding silent(1)	kidney(1)											118.0	122.0	121.0					2																	219886632		2203	4300	6503	SO:0001819	synonymous_variant	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.3000C>G	2.37:g.219886632G>C		Somatic		WXS	Illumina GAIIx	Phase_I	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	CCDS2430.2																																																																																				0.602	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4		NM_194302	
CELF4	56853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	34833813	34833813	+	Silent	SNP	C	C	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr18:34833813C>T	ENST00000591282.1	-	12	1421	c.1422G>A	c.(1420-1422)gtG>gtA	p.V474V	CELF4_ENST00000334919.5_Silent_p.V436V|CELF4_ENST00000601019.1_Silent_p.V472V|CELF4_ENST00000420428.2_Silent_p.V474V|CELF4_ENST00000590011.1_5'UTR|CELF4_ENST00000591287.1_Silent_p.V472V|CELF4_ENST00000361795.5_Silent_p.V472V|CELF4_ENST00000603232.1_Silent_p.V473V|CELF4_ENST00000412753.1_Silent_p.V473V			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	474	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.V474V(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GCTTCAGCTGCACCTTGAGCC	0.682																																																	1	Substitution - coding silent(1)	kidney(1)											66.0	63.0	64.0					18																	34833813		2203	4300	6503	SO:0001819	synonymous_variant	56853			AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.1422G>A	18.37:g.34833813C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Silent	SNP	ENST00000591282.1	37	CCDS32818.1																																																																																				0.682	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1		NM_020180	
CERCAM	51148	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	131193563	131193563	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr9:131193563A>T	ENST00000372838.4	+	9	1582	c.1184A>T	c.(1183-1185)cAt>cTt	p.H395L	CERCAM_ENST00000372842.1_Missense_Mutation_p.H317L|RP11-339B21.10_ENST00000610052.1_RNA	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	395					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)		p.H317L(1)|p.H395L(1)		endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						TTCCTCAGCCATTACTCCATC	0.602																																																	2	Substitution - Missense(2)	kidney(2)											79.0	78.0	78.0					9																	131193563		2203	4300	6503	SO:0001583	missense	51148			AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.1184A>T	9.37:g.131193563A>T	ENSP00000361929:p.His395Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	ENST00000372838.4	37	CCDS6901.2	.	.	.	.	.	.	.	.	.	.	A	32	5.128885	0.94473	.	.	ENSG00000167123	ENST00000372842;ENST00000372838;ENST00000413863	D;D	0.99023	-5.13;-5.34	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.99321	0.9762	M	0.90019	3.08	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	D	0.98974	1.0802	10	0.87932	D	0	-17.4497	12.9686	0.58499	1.0:0.0:0.0:0.0	.	395	Q5T4B2	GT253_HUMAN	L	317;395;348	ENSP00000361933:H317L;ENSP00000361929:H395L	ENSP00000361929:H395L	H	+	2	0	CERCAM	130233384	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	8.952000	0.93031	2.000000	0.58554	0.402000	0.26972	CAT		0.602	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2		NM_016174	
CHD9	80205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	53340243	53340243	+	Silent	SNP	T	T	C			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr16:53340243T>C	ENST00000398510.3	+	31	6801	c.6714T>C	c.(6712-6714)aaT>aaC	p.N2238N	CHD9_ENST00000564845.1_Silent_p.N2238N|CHD9_ENST00000566029.1_Silent_p.N2238N|CHD9_ENST00000447540.1_Silent_p.N2239N			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2238					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.N2239N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AGATGAACAATGGGACACCAG	0.423																																																	1	Substitution - coding silent(1)	kidney(1)											85.0	85.0	85.0					16																	53340243		1900	4113	6013	SO:0001819	synonymous_variant	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.6714T>C	16.37:g.53340243T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	37																																																																																					0.423	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1		NM_025134	
CHKB	1120	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	51018844	51018844	+	Splice_Site	SNP	T	T	C			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr22:51018844T>C	ENST00000406938.2	-	6	896	c.679A>G	c.(679-681)Aag>Gag	p.K227E	CPT1B_ENST00000440709.1_5'Flank|CHKB-AS1_ENST00000380711.3_RNA|CPT1B_ENST00000395650.2_5'Flank|CPT1B_ENST00000312108.7_5'Flank|CPT1B_ENST00000360719.2_5'Flank|CHKB-CPT1B_ENST00000453634.1_5'Flank|CPT1B_ENST00000405237.3_5'Flank|CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000457250.1_5'Flank|CPT1B_ENST00000434492.2_5'Flank|CHKB_ENST00000463053.1_5'UTR	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	227					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline kinase activity (GO:0004103)|ethanolamine kinase activity (GO:0004305)	p.K227E(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	TCTAGTAACTTCCTACAGGGG	0.552																																																	1	Substitution - Missense(1)	kidney(1)											162.0	166.0	165.0					22																	51018844		2203	4300	6503	SO:0001630	splice_region_variant	1120			AB029886	CCDS14099.1	22q13.33	2011-02-16	2004-04-19	2004-04-19	ENSG00000100288	ENSG00000100288			1938	protein-coding gene	gene with protein product		612395	"""choline kinase-like"""	CHKL		9224698, 15003397	Standard	NM_005198		Approved	CHETK	uc003bmv.3	Q9Y259	OTTHUMG00000150275	ENST00000406938.2:c.678-1A>G	22.37:g.51018844T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A0PJM6|Q13388	Missense_Mutation	SNP	ENST00000406938.2	37	CCDS14099.1	.	.	.	.	.	.	.	.	.	.	T	11.01	1.512876	0.27123	.	.	ENSG00000100288	ENST00000406938	T	0.56103	0.48	4.95	4.95	0.65309	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.426776	0.27901	N	0.017396	T	0.38188	0.1031	L	0.28400	0.85	0.35210	D	0.775078	B	0.26258	0.145	B	0.29663	0.105	T	0.42310	-0.9459	10	0.11794	T	0.64	-13.281	10.9162	0.47137	0.0:0.0:0.0:1.0	.	227	Q9Y259	CHKB_HUMAN	E	227	ENSP00000384400:K227E	ENSP00000384400:K227E	K	-	1	0	CHKB	49365710	0.970000	0.33590	0.997000	0.53966	0.514000	0.34195	0.608000	0.24223	2.072000	0.62099	0.459000	0.35465	AAG		0.552	CHKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317267.3		NM_005198	Missense_Mutation
CHRNA9	55584	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	40356027	40356027	+	Silent	SNP	C	C	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr4:40356027C>T	ENST00000310169.2	+	5	1069	c.930C>T	c.(928-930)atC>atT	p.I310I		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	310					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)	p.I310I(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	TGGCCCTGATCACAGCCTCCA	0.498																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)												1	Substitution - coding silent(1)	kidney(1)											114.0	118.0	117.0					4																	40356027		2203	4300	6503	SO:0001819	synonymous_variant	55584			AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.930C>T	4.37:g.40356027C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q14CY7|Q4W5A2|Q9NYV2	Silent	SNP	ENST00000310169.2	37	CCDS3459.1																																																																																				0.498	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			
CKAP4	10970	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	106633704	106633704	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr12:106633704T>C	ENST00000378026.4	-	2	1043	c.907A>G	c.(907-909)Aga>Gga	p.R303G	CKAP4_ENST00000552828.1_5'UTR	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	303						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.R303G(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						TCCCACTCTCTGGACTTGGCT	0.537																																																	1	Substitution - Missense(1)	kidney(1)											119.0	120.0	119.0					12																	106633704		2203	4300	6503	SO:0001583	missense	10970			X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.907A>G	12.37:g.106633704T>C	ENSP00000367265:p.Arg303Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q504S5|Q53ES6	Missense_Mutation	SNP	ENST00000378026.4	37	CCDS9103.1	.	.	.	.	.	.	.	.	.	.	T	10.51	1.371808	0.24857	.	.	ENSG00000136026	ENST00000378026	T	0.77750	-1.12	5.8	0.0395	0.14205	.	0.775102	0.12559	N	0.458359	T	0.72700	0.3493	M	0.62723	1.935	0.09310	N	1	B	0.22003	0.063	B	0.15484	0.013	T	0.57665	-0.7772	10	0.21540	T	0.41	-2.0993	15.0678	0.72011	0.0:0.0:0.5391:0.4609	.	303	Q07065	CKAP4_HUMAN	G	303	ENSP00000367265:R303G	ENSP00000367265:R303G	R	-	1	2	CKAP4	105157834	0.315000	0.24571	0.019000	0.16419	0.640000	0.38277	1.032000	0.30178	0.049000	0.15920	0.460000	0.39030	AGA		0.537	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407196.1			
CLDN6	9074	broad.mit.edu;hgsc.bcm.edu	37	16	3065984	3065984	+	Silent	SNP	C	C	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr16:3065984C>T	ENST00000396925.1	-	3	467	c.39G>A	c.(37-39)ctG>ctA	p.L13L	TNFRSF12A_ENST00000573001.1_5'Flank|CLDN6_ENST00000328796.4_Silent_p.L13L|CLDN6_ENST00000572154.1_Silent_p.L13L			P56747	CLD6_HUMAN	claudin 6	13					calcium-independent cell-cell adhesion (GO:0016338)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.L13L(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CCAGCAGTGTCAGGACGACTC	0.607																																																	1	Substitution - coding silent(1)	kidney(1)											77.0	69.0	71.0					16																	3065984		2198	4300	6498	SO:0001819	synonymous_variant	9074			AJ249735	CCDS10488.1	16p13.3	2008-08-01			ENSG00000184697	ENSG00000184697		"""Claudins"""	2048	protein-coding gene	gene with protein product		615798				9892664, 18234789	Standard	NM_021195		Approved		uc002csu.4	P56747	OTTHUMG00000128999	ENST00000396925.1:c.39G>A	16.37:g.3065984C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B3KQP9|D3DUA5	Silent	SNP	ENST00000396925.1	37	CCDS10488.1																																																																																				0.607	CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250988.1		NM_021195	
CRB1	23418	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	197446956	197446956	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr1:197446956C>T	ENST00000367400.3	+	12	4303	c.4168C>T	c.(4168-4170)Cga>Tga	p.R1390*	CRB1_ENST00000544212.1_Nonsense_Mutation_p.R871*|CRB1_ENST00000538660.1_Nonsense_Mutation_p.R854*|CRB1_ENST00000535699.1_Nonsense_Mutation_p.R1366*|CRB1_ENST00000367399.2_Nonsense_Mutation_p.R1278*	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1390					cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R1390*(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GGAGGGCTCCCGAGTGGAAAT	0.532																																																	1	Substitution - Nonsense(1)	kidney(1)											98.0	98.0	98.0					1																	197446956		2203	4300	6503	SO:0001587	stop_gained	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.4168C>T	1.37:g.197446956C>T	ENSP00000356370:p.Arg1390*	Somatic		WXS	Illumina HiSeq	Phase_I	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Nonsense_Mutation	SNP	ENST00000367400.3	37	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	39	7.517980	0.98332	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212	.	.	.	5.61	3.69	0.42338	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0601	0.36429	0.2625:0.6688:0.0:0.0687	.	.	.	.	X	1366;854;1390;1278;871	.	ENSP00000356369:R1278X	R	+	1	2	CRB1	195713579	0.992000	0.36948	0.407000	0.26434	0.800000	0.45204	2.858000	0.48356	0.689000	0.31550	0.644000	0.83932	CGA		0.532	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2		NM_201253	
CSMD3	114788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	113529433	113529433	+	Missense_Mutation	SNP	C	C	T	rs138068999		TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr8:113529433C>T	ENST00000297405.5	-	28	4830	c.4586G>A	c.(4585-4587)cGt>cAt	p.R1529H	CSMD3_ENST00000455883.2_Missense_Mutation_p.R1425H|CSMD3_ENST00000343508.3_Missense_Mutation_p.R1489H|CSMD3_ENST00000352409.3_Missense_Mutation_p.R1529H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1529	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1529H(2)|p.R1489H(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCCTGGGTCACGACACGCAGT	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		14260	0.0		0.0	False		,,,				2504	0.0																3	Substitution - Missense(3)	kidney(2)|large_intestine(1)						C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	55.0	49.0	51.0		4274,4586,4466	3.8	1.0	8	dbSNP_134	51	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	29,29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	1425/3539,1529/3708,1489/3668	113529433	2,13004	2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4586G>A	8.37:g.113529433C>T	ENSP00000297405:p.Arg1529His	Somatic		WXS	Illumina HiSeq	Phase_I	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	21.3	4.129748	0.77549	0.0	2.33E-4	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	4.7	3.81	0.43845	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.70098	0.3185	L	0.41632	1.29	0.33293	D	0.563809	D;D;D	0.89917	1.0;1.0;0.997	D;D;P	0.76071	0.977;0.987;0.862	T	0.76661	-0.2877	10	0.39692	T	0.17	.	14.2188	0.65812	0.1506:0.8494:0.0:0.0	.	1425;1529;1489	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	H	1489;1529;869;1425;1529	ENSP00000345799:R1489H;ENSP00000297405:R1529H;ENSP00000341558:R869H;ENSP00000412263:R1425H;ENSP00000343124:R1529H	ENSP00000297405:R1529H	R	-	2	0	CSMD3	113598609	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.894000	0.56250	1.159000	0.42565	0.585000	0.79938	CGT		0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900	
CTNND2	1501	hgsc.bcm.edu;ucsc.edu	37	5	10988302	10988303	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr5:10988302_10988303delTG	ENST00000304623.8	-	20	3452_3453	c.3263_3264delCA	c.(3262-3264)acafs	p.T1088fs	CTNND2_ENST00000503622.1_Frame_Shift_Del_p.T751fs|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Frame_Shift_Del_p.T1030fs|CTNND2_ENST00000511377.1_Frame_Shift_Del_p.T997fs|CTNND2_ENST00000458100.2_Frame_Shift_Del_p.T655fs	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1088					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ACTCGTAGTCTGTTTTCCTTTC	0.545											OREG0016517	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001589	frameshift_variant	1501			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3263_3264delCA	5.37:g.10988302_10988303delTG	ENSP00000307134:p.Thr1088fs	Somatic	668	WXS	Illumina HiSeq	Phase_I	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Frame_Shift_Del	DEL	ENST00000304623.8	37	CCDS3881.1																																																																																				0.545	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1		NM_001332	
CXADR	1525	hgsc.bcm.edu;ucsc.edu	37	21	18931362	18931363	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr21:18931362_18931363delTG	ENST00000284878.7	+	4	1232_1233	c.484_485delTG	c.(484-486)tgtfs	p.C162fs	CXADR_ENST00000400169.1_Frame_Shift_Del_p.C162fs|CXADR_ENST00000306618.10_Frame_Shift_Del_p.C162fs|CXADR_ENST00000356275.6_Intron|CXADR_ENST00000400165.1_Intron|CXADR_ENST00000400166.1_Frame_Shift_Del_p.C162fs	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	162	Ig-like C2-type 2.				actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618)			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		TAAGATAAAATGTGAACCAAAA	0.356																																																	0																																										SO:0001589	frameshift_variant	1525			Y07593	CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1	21q21.1	2013-01-29			ENSG00000154639	ENSG00000154639		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2559	protein-coding gene	gene with protein product		602621				9036860, 9096397	Standard	NM_001338		Approved	CAR	uc002yki.3	P78310	OTTHUMG00000074508	ENST00000284878.7:c.484_485delTG	21.37:g.18931364_18931365delTG	ENSP00000284878:p.Cys162fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4	Frame_Shift_Del	DEL	ENST00000284878.7	37	CCDS33519.1																																																																																				0.356	CXADR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000158209.1			
CYFIP2	26999	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	156753229	156753229	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr5:156753229T>C	ENST00000521420.1	+	17	2046	c.1955T>C	c.(1954-1956)cTg>cCg	p.L652P	CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Missense_Mutation_p.L603P|CYFIP2_ENST00000318218.6_Missense_Mutation_p.L703P|CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000522463.1_Missense_Mutation_p.L482P|CYFIP2_ENST00000347377.6_Missense_Mutation_p.L678P|CYFIP2_ENST00000435847.2_Missense_Mutation_p.L377P|CYFIP2_ENST00000377576.3_Missense_Mutation_p.L678P					cytoplasmic FMR1 interacting protein 2									p.L703P(2)|p.L678P(1)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TACTATGCTCTGACCAAGTTT	0.463																																																	3	Substitution - Missense(3)	kidney(3)											183.0	178.0	180.0					5																	156753229		1937	4139	6076	SO:0001583	missense	26999			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1955T>C	5.37:g.156753229T>C	ENSP00000430904:p.Leu652Pro	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000521420.1	37		.	.	.	.	.	.	.	.	.	.	T	24.3	4.515581	0.85389	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27;0.27	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.80127	0.4566	M	0.90369	3.11	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.973	D;D;D;D;D;D	0.91635	0.996;0.999;0.999;0.997;0.999;0.985	D	0.84913	0.0849	10	0.87932	D	0	-16.3501	14.9447	0.71020	0.0:0.0:0.0:1.0	.	542;482;652;678;678;703	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	P	703;482;652;678;678;603;377	ENSP00000325817:L703P;ENSP00000428009:L482P;ENSP00000430904:L652P;ENSP00000313567:L678P;ENSP00000366799:L678P;ENSP00000444645:L603P;ENSP00000403793:L377P	ENSP00000325817:L703P	L	+	2	0	CYFIP2	156685807	1.000000	0.71417	0.986000	0.45419	0.988000	0.76386	7.954000	0.87848	1.989000	0.58080	0.533000	0.62120	CTG		0.463	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1		NM_001037332	
DPY19L4	286148	broad.mit.edu;ucsc.edu	37	8	95777480	95777481	+	Missense_Mutation	DNP	GC	GC	TA	rs144794373	byFrequency	TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr8:95777480_95777481GC>TA	ENST00000414645.2	+	9	1039_1040	c.940_941GC>TA	c.(940-942)GCt>TAt	p.A314Y		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	314						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.A314D(1)|p.A314S(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TGAGAATCCAGCTTTGTTGGTA	0.297																																																	2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	286148				CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	Exception_encountered	8.37:g.95777480_95777481delinsTA	ENSP00000389630:p.Ala314Tyr	Somatic		WXS	Illumina GAIIx	Phase_I	Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	ENST00000414645.2	37	CCDS34924.1																																																																																				0.297	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1		NM_181787	
EXOSC5	56915	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	41895707	41895707	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr19:41895707C>A	ENST00000221233.4	-	4	638	c.488G>T	c.(487-489)gGg>gTg	p.G163V	CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.G125V	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	163					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)	p.G163V(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CACGAGGGTCCCATCAGAGTC	0.612																																																	1	Substitution - Missense(1)	kidney(1)											104.0	103.0	103.0					19																	41895707		2203	4300	6503	SO:0001583	missense	56915			AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348			24662	protein-coding gene	gene with protein product	"""exosome component Rrp46"""	606492				11110791, 11812149	Standard	NM_020158		Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.488G>T	19.37:g.41895707C>A	ENSP00000221233:p.Gly163Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q32Q81|Q8NG16|Q96I89	Missense_Mutation	SNP	ENST00000221233.4	37	CCDS12580.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273797	0.59649	.	.	ENSG00000077348	ENST00000221233	T	0.52057	0.68	5.03	5.03	0.67393	Exoribonuclease, phosphorolytic domain 2 (2);	0.103239	0.64402	D	0.000003	T	0.72036	0.3411	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.76154	-0.3063	10	0.87932	D	0	-25.237	17.6538	0.88172	0.0:1.0:0.0:0.0	.	163	Q9NQT4	EXOS5_HUMAN	V	163	ENSP00000221233:G163V	ENSP00000221233:G163V	G	-	2	0	EXOSC5	46587547	1.000000	0.71417	0.974000	0.42286	0.270000	0.26580	4.625000	0.61262	2.774000	0.95407	0.650000	0.86243	GGG		0.612	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463492.1		NM_020158	
FAM150B	285016	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	283163	283163	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr2:283163C>A	ENST00000403610.4	-	5	741	c.401G>T	c.(400-402)tGc>tTc	p.C134F	FAM150B_ENST00000401503.1_Missense_Mutation_p.C42F|FAM150B_ENST00000405290.1_Missense_Mutation_p.C42F|FAM150B_ENST00000344414.5_Missense_Mutation_p.C42F	NM_001002919.2	NP_001002919.2	Q6UX46	F150B_HUMAN	family with sequence similarity 150, member B	134						extracellular region (GO:0005576)		p.C134F(2)		breast(1)|kidney(2)	3	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.00091)|Epithelial(75;0.00656)|OV - Ovarian serous cystadenocarcinoma(76;0.00954)|GBM - Glioblastoma multiforme(21;0.128)		AAGCCTGGCGCATCTTTTATA	0.418																																																	2	Substitution - Missense(2)	kidney(2)											57.0	56.0	57.0					2																	283163		1859	4099	5958	SO:0001583	missense	285016				CCDS46218.1	2p25.3	2008-05-02			ENSG00000189292	ENSG00000189292			27683	protein-coding gene	gene with protein product							Standard	NM_001002919		Approved		uc002qwi.4	Q6UX46	OTTHUMG00000151366	ENST00000403610.4:c.401G>T	2.37:g.283163C>A	ENSP00000384604:p.Cys134Phe	Somatic		WXS	Illumina HiSeq	Phase_I	B5MC76	Missense_Mutation	SNP	ENST00000403610.4	37	CCDS46218.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.68|16.68	3.189815|3.189815	0.57909|0.57909	.|.	.|.	ENSG00000189292|ENSG00000189292	ENST00000401489|ENST00000436353;ENST00000403610;ENST00000401503;ENST00000405290;ENST00000344414;ENST00000452023	.|.	.|.	.|.	4.69|4.69	4.69|4.69	0.59074|0.59074	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71151|0.71151	0.3306|0.3306	L|L	0.56769|0.56769	1.78|1.78	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.76494	.|0.999	.|D	.|0.87578	.|0.998	T|T	0.73836|0.73836	-0.3857|-0.3857	5|9	.|0.87932	.|D	.|0	.|.	12.9885|12.9885	0.58606|0.58606	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|134	.|Q6UX46	.|F150B_HUMAN	S|F	85|74;134;42;42;42;134	.|.	.|ENSP00000339565:C42F	A|C	-|-	1|2	0|0	FAM150B|FAM150B	273163|273163	1.000000|1.000000	0.71417|0.71417	0.553000|0.553000	0.28255|0.28255	0.687000|0.687000	0.40016|0.40016	6.537000|6.537000	0.73847|0.73847	2.447000|2.447000	0.82792|0.82792	0.655000|0.655000	0.94253|0.94253	GCG|TGC		0.418	FAM150B-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322394.2		NM_001002919	
FTL	2512	broad.mit.edu;hgsc.bcm.edu	37	19	49468840	49468840	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr19:49468840C>A	ENST00000331825.6	+	1	283	c.76C>A	c.(76-78)Cag>Aag	p.Q26K	CTD-2639E6.9_ENST00000599784.1_lincRNA	NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	26	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|membrane (GO:0016020)	ferric iron binding (GO:0008199)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)	p.Q26K(1)		cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	TTTGTACCTGCAGGCCTCCTA	0.597																																																	1	Substitution - Missense(1)	kidney(1)											67.0	67.0	67.0					19																	49468840		2203	4300	6503	SO:0001583	missense	2512			AY207005	CCDS33070.1	19q13.33	2014-05-19			ENSG00000087086	ENSG00000087086			3999	protein-coding gene	gene with protein product	"""ferritin light polypeptide-like 3"", ""L apoferritin"", ""ferritin L subunit"", ""ferritin light chain"", ""ferritin L-chain"", ""neurodegeneration with brain iron accumulation 3"""	134790				3000916, 9526618	Standard	NM_000146		Approved	MGC71996, NBIA3	uc002plo.3	P02792		ENST00000331825.6:c.76C>A	19.37:g.49468840C>A	ENSP00000366525:p.Gln26Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B2R4B9|Q6IBT7|Q7Z2W1|Q86WI9|Q8WU07|Q96AU9|Q96CU0|Q9BTZ8	Missense_Mutation	SNP	ENST00000331825.6	37	CCDS33070.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452804	0.63290	.	.	ENSG00000087086	ENST00000331825;ENST00000397259	T	0.63417	-0.04	5.14	4.1	0.47936	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.563352	0.18535	N	0.138383	T	0.58119	0.2100	M	0.67625	2.065	0.27612	N	0.948623	B;P	0.36577	0.323;0.558	B;B	0.36418	0.224;0.182	T	0.59322	-0.7476	10	0.66056	D	0.02	.	8.4604	0.32925	0.0:0.8199:0.0:0.1801	.	26;26	P02792;F5H1X1	FRIL_HUMAN;.	K	26	ENSP00000366525:Q26K	ENSP00000366525:Q26K	Q	+	1	0	FTL	54160652	0.392000	0.25229	0.998000	0.56505	0.921000	0.55340	0.590000	0.23954	1.489000	0.48450	0.655000	0.94253	CAG		0.597	FTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466233.1		NM_000146	
GABRE	2564	hgsc.bcm.edu;ucsc.edu	37	X	151128394	151128395	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chrX:151128394_151128395insT	ENST00000370328.3	-	6	753_754	c.700_701insA	c.(700-702)atcfs	p.I234fs	MIR224_ENST00000384889.1_RNA|MIR452_ENST00000385020.1_RNA|GABRE_ENST00000393914.3_Frame_Shift_Ins_p.I41fs|GABRE_ENST00000370325.1_Frame_Shift_Ins_p.I234fs	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	234					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				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)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|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)	CTTCTCATTGATTTCAAGCTTG	0.426																																																	0																																										SO:0001589	frameshift_variant	2564			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.701dupA	X.37:g.151128397_151128397dupT	ENSP00000359353:p.Ile234fs	Somatic		WXS	Illumina HiSeq	Phase_I	E7ET93|O15345|O15346|Q6PCD2|Q99520	Frame_Shift_Ins	INS	ENST00000370328.3	37	CCDS14703.1																																																																																				0.426	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1		NM_004961, NM_021990, NM_021984	
GBP2	2634	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	89582840	89582840	+	Missense_Mutation	SNP	C	C	T	rs199744522		TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr1:89582840C>T	ENST00000370466.3	-	6	971	c.703G>A	c.(703-705)Gtc>Atc	p.V235I	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	235	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.V235I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CAATCGAAGACGAAGCACTTC	0.428																																																	1	Substitution - Missense(1)	kidney(1)						C	ILE/VAL	0,4406		0,0,2203	99.0	92.0	95.0		703	-3.3	0.1	1		95	1,8599	1.2+/-3.3	0,1,4299	no	missense	GBP2	NM_004120.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	235/592	89582840	1,13005	2203	4300	6503	SO:0001583	missense	2634			BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.703G>A	1.37:g.89582840C>T	ENSP00000359497:p.Val235Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q6GPH0|Q6IAU2|Q86TB0	Missense_Mutation	SNP	ENST00000370466.3	37	CCDS719.1	.	.	.	.	.	.	.	.	.	.	C	4.715	0.132919	0.09032	0.0	1.16E-4	ENSG00000162645	ENST00000370466	T	0.75260	-0.92	3.63	-3.32	0.04973	Guanylate-binding protein, N-terminal (1);	0.831285	0.10030	N	0.724830	T	0.27169	0.0666	N	0.05441	-0.05	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.26643	-1.0097	10	0.18276	T	0.48	-28.7554	11.2228	0.48866	0.0:0.6472:0.0:0.3528	.	235	P32456	GBP2_HUMAN	I	235	ENSP00000359497:V235I	ENSP00000359497:V235I	V	-	1	0	GBP2	89355428	0.000000	0.05858	0.094000	0.20943	0.011000	0.07611	-0.943000	0.03917	-0.837000	0.04223	-1.130000	0.01982	GTC		0.428	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2		NM_004120	
GCC1	79571	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	127222351	127222351	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr7:127222351T>C	ENST00000321407.2	-	2	2469	c.2045A>G	c.(2044-2046)cAt>cGt	p.H682R	GCC1_ENST00000497650.1_5'Flank	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	682					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.H682R(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CTGCAGCTGATGCACCTCGAC	0.582																																																	1	Substitution - Missense(1)	kidney(1)											102.0	94.0	97.0					7																	127222351		2203	4300	6503	SO:0001583	missense	79571			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.2045A>G	7.37:g.127222351T>C	ENSP00000318821:p.His682Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	T	8.797	0.932000	0.18131	.	.	ENSG00000179562	ENST00000321407	T	0.06294	3.32	5.87	-0.921	0.10472	.	0.143686	0.64402	N	0.000005	T	0.02848	0.0085	N	0.21583	0.68	0.50467	D	0.999877	B	0.02656	0.0	B	0.04013	0.001	T	0.48758	-0.9007	10	0.13108	T	0.6	-4.698	1.9409	0.03346	0.1194:0.2074:0.124:0.5492	.	682	Q96CN9	GCC1_HUMAN	R	682	ENSP00000318821:H682R	ENSP00000318821:H682R	H	-	2	0	GCC1	127009587	0.773000	0.28580	0.241000	0.24154	0.884000	0.51177	1.038000	0.30254	-0.284000	0.09102	-0.316000	0.08728	CAT		0.582	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3		NM_024523	
HSF2BP	11077	hgsc.bcm.edu;ucsc.edu	37	21	45053272	45053272	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr21:45053272C>A	ENST00000291560.2	-	5	653	c.322G>T	c.(322-324)Gaa>Taa	p.E108*	HSF2BP_ENST00000542962.1_Nonsense_Mutation_p.E33*	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	108					spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		TGCTTCGCTTCATTCAACTGC	0.428																																																	0													79.0	67.0	71.0					21																	45053272		2203	4300	6503	SO:0001587	stop_gained	11077			AB007131	CCDS13697.1	21q22.3	2008-07-31			ENSG00000160207	ENSG00000160207			5226	protein-coding gene	gene with protein product	"""heat shock factor 2 binding protein"""	604554				9651507	Standard	XM_005261090		Approved		uc002zdi.3	O75031	OTTHUMG00000086863	ENST00000291560.2:c.322G>T	21.37:g.45053272C>A	ENSP00000291560:p.Glu108*	Somatic		WXS	Illumina HiSeq	Phase_I	B4DX36	Nonsense_Mutation	SNP	ENST00000291560.2	37	CCDS13697.1	.	.	.	.	.	.	.	.	.	.	C	35	5.549657	0.96501	.	.	ENSG00000160207	ENST00000291560;ENST00000542962;ENST00000443485	.	.	.	4.95	4.95	0.65309	.	0.195612	0.43747	D	0.000534	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	13.189	0.59700	0.1596:0.8404:0.0:0.0	.	.	.	.	X	108;33;108	.	ENSP00000291560:E108X	E	-	1	0	HSF2BP	43877700	1.000000	0.71417	0.559000	0.28332	0.932000	0.56968	3.893000	0.56243	2.282000	0.76494	0.585000	0.79938	GAA		0.428	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195620.1		NM_007031	
HSPG2	3339	hgsc.bcm.edu;ucsc.edu	37	1	22216599	22216600	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr1:22216599_22216600insC	ENST00000374695.3	-	6	527_528	c.448_449insG	c.(448-450)gtgfs	p.V150fs		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	150	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TTCCGAGCCCACATCCAGCTCC	0.609																																																	0																																										SO:0001589	frameshift_variant	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.449dupG	1.37:g.22216600_22216600dupC	ENSP00000363827:p.Val150fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q16287|Q5SZI3|Q9H3V5	Frame_Shift_Ins	INS	ENST00000374695.3	37	CCDS30625.1																																																																																				0.609	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1		NM_005529	
HSPG2	3339	hgsc.bcm.edu	37	1	22216602	22216602	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr1:22216602T>C	ENST00000374695.3	-	6	525	c.446A>G	c.(445-447)gAt>gGt	p.D149G		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	149	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CGAGCCCACATCCAGCTCCAC	0.612																																																	0													152.0	136.0	141.0					1																	22216602		2203	4300	6503	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.446A>G	1.37:g.22216602T>C	ENSP00000363827:p.Asp149Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.32|16.32	3.091469|3.091469	0.55968|0.55968	.|.	.|.	ENSG00000142798|ENSG00000142798	ENST00000374695;ENST00000439717|ENST00000412328	D;T|T	0.81499|0.46819	-1.5;-0.26|0.86	5.35|5.35	5.35|5.35	0.76521|0.76521	SEA (2);|.	0.423564|.	0.17270|.	N|.	0.180402|.	T|T	0.39784|0.39784	0.1091|0.1091	L|L	0.32530|0.32530	0.975|0.975	0.58432|0.58432	D|D	0.999998|0.999998	D|B	0.67145|0.28933	0.996|0.228	P|B	0.60609|0.30855	0.877|0.121	T|T	0.34329|0.34329	-0.9833|-0.9833	10|9	0.87932|0.56958	D|D	0|0.05	.|.	13.3309|13.3309	0.60485|0.60485	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	149|72	P98160|Q5SZI5	PGBM_HUMAN|.	G|V	149;115|72	ENSP00000363827:D149G;ENSP00000395884:D115G|ENSP00000405412:M72V	ENSP00000363827:D149G|ENSP00000405412:M72V	D|M	-|-	2|1	0|0	HSPG2|HSPG2	22089189|22089189	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.828000|0.828000	0.46876|0.46876	5.411000|5.411000	0.66386|0.66386	2.251000|2.251000	0.74343|0.74343	0.482000|0.482000	0.46254|0.46254	GAT|ATG		0.612	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1		NM_005529	
IL6ST	3572	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	55256363	55256363	+	Silent	SNP	G	G	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr5:55256363G>T	ENST00000381298.2	-	8	1152	c.840C>A	c.(838-840)acC>acA	p.T280T	IL6ST_ENST00000522633.2_Silent_p.T280T|IL6ST_ENST00000381287.4_Silent_p.T280T|IL6ST_ENST00000502326.3_Silent_p.T280T|IL6ST_ENST00000381293.2_Silent_p.T114T|IL6ST_ENST00000381294.3_Silent_p.T280T|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000336909.5_Silent_p.T280T|IL6ST_ENST00000536319.1_Silent_p.T280T	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	280	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.T280T(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)				ATGAAGATCGGGTGGATGCTG	0.388			O		hepatocellular ca																																			Dom	yes		5	5q11	3572	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""		E	1	Substitution - coding silent(1)	kidney(1)											105.0	94.0	98.0					5																	55256363		2203	4300	6503	SO:0001819	synonymous_variant	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.840C>A	5.37:g.55256363G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A0N0L4|Q5FC04|Q9UQ41	Silent	SNP	ENST00000381298.2	37	CCDS3971.1																																																																																				0.388	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3		NM_002184	
INPP5B	3633	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	38353034	38353034	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr1:38353034T>G	ENST00000373026.1	-	10	1243	c.1243A>C	c.(1243-1245)Aaa>Caa	p.K415Q	INPP5B_ENST00000467066.1_5'UTR|INPP5B_ENST00000458109.2_Missense_Mutation_p.K98Q|INPP5B_ENST00000373024.3_Missense_Mutation_p.K335Q|INPP5B_ENST00000373023.2_Missense_Mutation_p.K415Q|RNU6-584P_ENST00000410350.1_RNA|INPP5B_ENST00000373027.1_Missense_Mutation_p.K171Q			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	415	5-phosphatase. {ECO:0000250}.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)	p.K415Q(1)		breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTTGCATATTTGGCATCTGGA	0.428																																																	1	Substitution - Missense(1)	kidney(1)											131.0	118.0	122.0					1																	38353034		1880	4121	6001	SO:0001583	missense	3633			M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.1243A>C	1.37:g.38353034T>G	ENSP00000362117:p.Lys415Gln	Somatic		WXS	Illumina HiSeq	Phase_I	C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37		.	.	.	.	.	.	.	.	.	.	T	18.75	3.690064	0.68271	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024;ENST00000458109	D;D;D;D;D	0.95238	-3.65;-3.65;-3.65;-3.65;-3.65	5.89	5.89	0.94794	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.043092	0.85682	D	0.000000	D	0.96402	0.8826	M	0.72118	2.19	0.51233	D	0.99991	D;D	0.67145	0.994;0.996	P;P	0.62491	0.903;0.844	D	0.95866	0.8887	10	0.40728	T	0.16	.	16.3123	0.82883	0.0:0.0:0.0:1.0	.	415;335	P32019;P32019-2	I5P2_HUMAN;.	Q	171;415;415;415;335;98	ENSP00000362118:K171Q;ENSP00000362114:K415Q;ENSP00000362117:K415Q;ENSP00000362115:K335Q;ENSP00000397748:K98Q	ENSP00000362114:K415Q	K	-	1	0	INPP5B	38125621	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	7.698000	0.84413	2.254000	0.74563	0.459000	0.35465	AAA		0.428	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1		NM_005540	
ITGAD	3681	broad.mit.edu;ucsc.edu	37	16	31424171	31424171	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr16:31424171T>G	ENST00000389202.2	+	15	1769	c.1720T>G	c.(1720-1722)Tcc>Gcc	p.S574A		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	574					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.S574A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GATTGCCAGCTCCCAGCTCTC	0.592																																																	1	Substitution - Missense(1)	kidney(1)											59.0	60.0	59.0					16																	31424171		2197	4300	6497	SO:0001583	missense	3681			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1720T>G	16.37:g.31424171T>G	ENSP00000373854:p.Ser574Ala	Somatic		WXS	Illumina GAIIx	Phase_I	Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	T	8.464	0.855934	0.17106	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.61980	0.06	4.79	3.66	0.41972	.	.	.	.	.	T	0.48840	0.1522	L	0.38649	1.16	0.31014	N	0.718885	B;B	0.11235	0.004;0.004	B;B	0.18561	0.022;0.022	T	0.47209	-0.9135	9	0.28530	T	0.3	.	7.419	0.27061	0.3505:0.0:0.0:0.6494	.	590;574	Q59H14;Q13349	.;ITAD_HUMAN	A	590;574	ENSP00000373854:S574A	ENSP00000373854:S574A	S	+	1	0	ITGAD	31331672	0.031000	0.19500	0.931000	0.37212	0.330000	0.28571	0.339000	0.19875	0.657000	0.30906	0.418000	0.28097	TCC		0.592	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1		NM_005353	
KANSL3	55683	broad.mit.edu;hgsc.bcm.edu	37	2	97267383	97267383	+	Silent	SNP	T	T	C			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr2:97267383T>C	ENST00000431828.1	-	20	2689	c.2613A>G	c.(2611-2613)tcA>tcG	p.S871S	KANSL3_ENST00000440133.1_Silent_p.S691S|KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000599854.1_Silent_p.S784S|KANSL3_ENST00000487070.1_5'UTR			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	897					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S871S(1)									GACTCACCTGTGAGCTGGAGG	0.587																																																	1	Substitution - coding silent(1)	kidney(1)											29.0	31.0	30.0					2																	97267383		1942	4162	6104	SO:0001819	synonymous_variant	0			BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.2613A>G	2.37:g.97267383T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Silent	SNP	ENST00000431828.1	37	CCDS46361.1																																																																																				0.587	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2		NM_017991	
KRTAP22-1	337979	broad.mit.edu;ucsc.edu	37	21	31973474	31973474	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr21:31973474G>T	ENST00000334680.2	+	1	61	c.35G>T	c.(34-36)gGc>gTc	p.G12V	KRTAP6-2_ENST00000334897.3_5'Flank	NM_181620.1	NP_853651.1	Q3MIV0	KR221_HUMAN	keratin associated protein 22-1	12						intermediate filament (GO:0005882)		p.G12V(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	8						GGTGGCCAGGGCTATGCCAAA	0.463																																																	2	Substitution - Missense(2)	urinary_tract(1)|kidney(1)											171.0	157.0	161.0					21																	31973474		2203	4300	6503	SO:0001583	missense	337979			AP001708	CCDS13601.1	21q22.1	2011-02-10			ENSG00000186924	ENSG00000186924		"""Keratin associated proteins"""	18947	protein-coding gene	gene with protein product						12359730	Standard	NM_181620		Approved	KAP22.1	uc011add.2	Q3MIV0	OTTHUMG00000057778	ENST00000334680.2:c.35G>T	21.37:g.31973474G>T	ENSP00000333887:p.Gly12Val	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000334680.2	37	CCDS13601.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249594	0.22880	.	.	ENSG00000186924	ENST00000334680	T	0.14893	2.47	4.82	1.03	0.20045	.	0.000000	0.44097	D	0.000491	T	0.31451	0.0797	.	.	.	0.09310	N	1	D	0.67145	0.996	D	0.65987	0.94	T	0.06127	-1.0844	9	0.87932	D	0	.	6.9726	0.24656	0.37:0.0:0.63:0.0	.	12	Q3MIV0	KR221_HUMAN	V	12	ENSP00000333887:G12V	ENSP00000333887:G12V	G	+	2	0	KRTAP22-1	30895345	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.294000	0.19047	0.087000	0.17167	-0.136000	0.14681	GGC		0.463	KRTAP22-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128230.2			
C16orf96	342346	broad.mit.edu;ucsc.edu	37	16	4606857	4606857	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr16:4606857C>A	ENST00000444310.4	+	1	367	c.367C>A	c.(367-369)Cat>Aat	p.H123N		NM_001145011.1	NP_001138483.1			chromosome 16 open reading frame 96									p.H123N(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|skin(3)	12						GGACCTGTGGCATCTGATCAA	0.622																																																	1	Substitution - Missense(1)	kidney(1)											33.0	41.0	38.0					16																	4606857		692	1591	2283	SO:0001583	missense	0				CCDS53986.1	16p13.3	2012-10-10			ENSG00000205832	ENSG00000205832			40031	protein-coding gene	gene with protein product							Standard	NM_001145011		Approved		uc010uxn.2	A6NNT2	OTTHUMG00000176519	ENST00000444310.4:c.367C>A	16.37:g.4606857C>A	ENSP00000415027:p.His123Asn	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000444310.4	37	CCDS53986.1	.	.	.	.	.	.	.	.	.	.	C	2.269	-0.367495	0.05069	.	.	ENSG00000205832	ENST00000444310	T	0.21543	2.0	5.49	-0.535	0.11879	.	0.987741	0.08246	N	0.975395	T	0.09247	0.0228	N	0.04043	-0.29	0.09310	N	0.999998	B	0.20887	0.049	B	0.17433	0.018	T	0.30119	-0.9989	10	0.02654	T	1	-2.7018	14.5924	0.68378	0.715:0.285:0.0:0.0	.	123	A6NNT2	CP096_HUMAN	N	123	ENSP00000415027:H123N	ENSP00000415027:H123N	H	+	1	0	C16orf96	4546858	0.769000	0.28531	0.105000	0.21289	0.164000	0.22412	0.467000	0.22035	-0.232000	0.09811	-0.169000	0.13324	CAT		0.622	C16orf96-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432384.1		NM_001145011	
MTMR3	8897	hgsc.bcm.edu;ucsc.edu	37	22	30415808	30415816	+	In_Frame_Del	DEL	CCCTCTCTT	CCCTCTCTT	-	rs142760168		TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	CCCTCTCTT	CCCTCTCTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr22:30415808_30415816delCCCTCTCTT	ENST00000401950.2	+	17	2502_2510	c.2160_2168delCCCTCTCTT	c.(2158-2169)gaccctctctta>gaa	p.720_723DPLL>E	MTMR3_ENST00000333027.3_In_Frame_Del_p.720_723DPLL>E|MTMR3_ENST00000323630.5_In_Frame_Del_p.584_587DPLL>E|MTMR3_ENST00000351488.3_In_Frame_Del_p.720_723DPLL>E|MTMR3_ENST00000406629.1_In_Frame_Del_p.720_723DPLL>E|CTA-85E5.10_ENST00000429350.1_RNA|CTA-85E5.10_ENST00000453743.2_RNA	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	720					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GTAAAGAGGACCCTCTCTTAGAAAAGGAG	0.545																																																	0																																										SO:0001651	inframe_deletion	8897			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2160_2168delCCCTCTCTT	22.37:g.30415808_30415816delCCCTCTCTT	ENSP00000384651:p.Asp720_Leu723delinsGlu	Somatic		WXS	Illumina HiSeq	Phase_I	A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	In_Frame_Del	DEL	ENST00000401950.2	37	CCDS13870.1																																																																																				0.545	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1		NM_021090	
NCOR1	9611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	16021256	16021256	+	Silent	SNP	A	A	G			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr17:16021256A>G	ENST00000268712.3	-	18	2258	c.2001T>C	c.(1999-2001)ttT>ttC	p.F667F	NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395851.1_Silent_p.F667F|NCOR1_ENST00000395848.1_Silent_p.F558F	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	667	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.F667F(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTTTATAGTTAAAATAGAAGT	0.363																																																	1	Substitution - coding silent(1)	kidney(1)											156.0	141.0	146.0					17																	16021256		2203	4300	6503	SO:0001819	synonymous_variant	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.2001T>C	17.37:g.16021256A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	CCDS11175.1																																																																																				0.363	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5		NM_006311	
NOC2L	26155	broad.mit.edu;hgsc.bcm.edu	37	1	888619	888619	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr1:888619G>T	ENST00000327044.6	-	9	987	c.938C>A	c.(937-939)gCt>gAt	p.A313D	NOC2L_ENST00000487214.1_5'Flank	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	313					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)	p.A313D(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GACCAGGAAAGCCAGCACCCG	0.607																																																	1	Substitution - Missense(1)	kidney(1)											76.0	65.0	69.0					1																	888619		2203	4300	6503	SO:0001583	missense	26155			AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.938C>A	1.37:g.888619G>T	ENSP00000317992:p.Ala313Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q5SVA3|Q9BTN6	Missense_Mutation	SNP	ENST00000327044.6	37	CCDS3.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256378	0.80246	.	.	ENSG00000188976	ENST00000327044	T	0.67865	-0.29	5.19	5.19	0.71726	Armadillo-type fold (1);	0.121836	0.53938	D	0.000043	D	0.83050	0.5170	M	0.82323	2.585	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.71184	0.972;0.972;0.972	D	0.85930	0.1451	10	0.87932	D	0	-30.348	17.6817	0.88245	0.0:0.0:1.0:0.0	.	313;313;80	B3KNC3;Q9Y3T9;Q9H9J5	.;NOC2L_HUMAN;.	D	313	ENSP00000317992:A313D	ENSP00000317992:A313D	A	-	2	0	NOC2L	878482	1.000000	0.71417	0.995000	0.50966	0.510000	0.34073	9.279000	0.95777	2.395000	0.81488	0.561000	0.74099	GCT		0.607	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1		NM_015658	
NOL6	65083	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	33464888	33464888	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr9:33464888T>G	ENST00000379471.2	-	21	2855	c.2768A>C	c.(2767-2769)aAt>aCt	p.N923T	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.N871T			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	923					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.N923T(1)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGTGAGCTCATTATTGAGGTT	0.483																																																	1	Substitution - Missense(1)	kidney(1)											91.0	96.0	94.0					9																	33464888		2203	4300	6503	SO:0001583	missense	65083			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.2768A>C	9.37:g.33464888T>G	ENSP00000368784:p.Asn923Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37		.	.	.	.	.	.	.	.	.	.	T	7.488	0.650154	0.14516	.	.	ENSG00000165271	ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T	0.42131	0.98;0.98;0.98	5.45	-1.24	0.09435	.	0.664731	0.15963	N	0.236178	T	0.29976	0.0750	L	0.43923	1.385	0.09310	N	1	B;B;B;B	0.15719	0.008;0.014;0.007;0.008	B;B;B;B	0.17979	0.02;0.016;0.007;0.019	T	0.28586	-1.0039	10	0.18276	T	0.48	.	10.5196	0.44912	0.0:0.6651:0.1557:0.1792	.	871;920;923;923	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4	.;.;.;NOL6_HUMAN	T	923;923;479;923;871	ENSP00000297990:N923T;ENSP00000368784:N923T;ENSP00000395915:N871T	ENSP00000297990:N923T	N	-	2	0	NOL6	33454888	0.001000	0.12720	0.865000	0.33974	0.485000	0.33311	0.070000	0.14573	-0.161000	0.10983	0.533000	0.62120	AAT		0.483	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2		NM_022917	
OPRD1	4985	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	29185683	29185683	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr1:29185683G>A	ENST00000234961.2	+	2	687	c.445G>A	c.(445-447)Gct>Act	p.A149T		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	149					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)	p.A149T(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CCGCTACATCGCTGTCTGCCA	0.577																																																	1	Substitution - Missense(1)	kidney(1)											133.0	102.0	112.0					1																	29185683		2203	4300	6503	SO:0001583	missense	4985			U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.445G>A	1.37:g.29185683G>A	ENSP00000234961:p.Ala149Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	CCDS329.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036598	0.93630	.	.	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.53423	0.62	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.76364	0.3977	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.83747	0.0207	10	0.87932	D	0	.	14.8953	0.70639	0.0:0.0:1.0:0.0	.	149	P41143	OPRD_HUMAN	T	149	ENSP00000234961:A149T	ENSP00000234961:A149T	A	+	1	0	OPRD1	29058270	1.000000	0.71417	0.993000	0.49108	0.982000	0.71751	9.657000	0.98554	2.375000	0.81037	0.462000	0.41574	GCT		0.577	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1		NM_000911	
OPRM1	4988	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	154412361	154412361	+	Silent	SNP	C	C	A			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr6:154412361C>A	ENST00000330432.7	+	3	1155	c.918C>A	c.(916-918)gcC>gcA	p.A306A	OPRM1_ENST00000419506.2_Silent_p.A306A|OPRM1_ENST00000452687.2_Silent_p.A306A|OPRM1_ENST00000522555.1_Silent_p.A206A|OPRM1_ENST00000360422.4_Silent_p.A306A|OPRM1_ENST00000337049.4_Silent_p.A306A|OPRM1_ENST00000435918.2_Silent_p.A306A|OPRM1_ENST00000414028.2_Silent_p.A306A|OPRM1_ENST00000520708.1_Silent_p.A206A|OPRM1_ENST00000428397.2_Silent_p.A306A|OPRM1_ENST00000518759.1_Silent_p.A225A|OPRM1_ENST00000434900.2_Silent_p.A399A|OPRM1_ENST00000522236.1_Silent_p.A206A|OPRM1_ENST00000524163.1_Silent_p.A306A|OPRM1_ENST00000229768.5_Silent_p.A306A	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	306					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)	p.A306A(2)|p.A399A(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TCATTAAAGCCTTGGTTACAA	0.478																																																	3	Substitution - coding silent(3)	kidney(3)											152.0	165.0	161.0					6																	154412361		2191	4298	6489	SO:0001819	synonymous_variant	4988			L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.918C>A	6.37:g.154412361C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Silent	SNP	ENST00000330432.7	37	CCDS55070.1																																																																																				0.478	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2		NM_000914	
OR6T1	219874	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	123814182	123814182	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr11:123814182G>T	ENST00000321252.2	-	1	398	c.364C>A	c.(364-366)Cgt>Agt	p.R122S		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122S(1)|p.R122C(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GCCAGGTAACGATCCAGAGAC	0.527																																																	2	Substitution - Missense(2)	kidney(1)|skin(1)											89.0	75.0	80.0					11																	123814182		2202	4299	6501	SO:0001583	missense	219874			AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.364C>A	11.37:g.123814182G>T	ENSP00000325203:p.Arg122Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	37	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675389	0.67928	.	.	ENSG00000181499	ENST00000321252	T	0.77620	-1.11	3.85	2.9	0.33743	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.90940	0.7152	H	0.97051	3.93	0.25231	N	0.989827	D	0.89917	1.0	D	0.80764	0.994	T	0.82118	-0.0615	9	0.87932	D	0	-40.5181	10.1214	0.42623	0.0:0.0:0.7982:0.2018	.	122	Q8NGN1	OR6T1_HUMAN	S	122	ENSP00000325203:R122S	ENSP00000325203:R122S	R	-	1	0	OR6T1	123319392	0.791000	0.28800	0.018000	0.16275	0.986000	0.74619	1.792000	0.38754	0.768000	0.33290	0.563000	0.77884	CGT		0.527	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1		NM_001005187	
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52651383	52651383	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr3:52651383delA	ENST00000296302.7	-	14	1714	c.1713delT	c.(1711-1713)attfs	p.I571fs	PBRM1_ENST00000409057.1_Frame_Shift_Del_p.I571fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.I539fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.I586fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.I571fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.I571fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.I586fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.I571fs			Q86U86	PB1_HUMAN	polybromo 1	571	Bromo 4. {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.E572fs*16(2)|p.E540fs*16(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)		TGTTATGCTCAATTATTTTCA	0.398			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	3	Insertion - Frameshift(3)	kidney(3)											119.0	116.0	117.0					3																	52651383		2203	4300	6503	SO:0001589	frameshift_variant	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.1713delT	3.37:g.52651383delA	ENSP00000296302:p.Ile571fs	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.398	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PFDN4	5203	broad.mit.edu;ucsc.edu	37	20	52835595	52835595	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr20:52835595G>T	ENST00000371419.2	+	4	565	c.311G>T	c.(310-312)aGa>aTa	p.R104I	PFDN4_ENST00000487129.1_3'UTR	NM_002623.3	NP_002614.2	Q9NQP4	PFD4_HUMAN	prefoldin subunit 4	104					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chaperone binding (GO:0051087)	p.R104I(1)		endometrium(1)|kidney(2)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)			TTAGAATCCAGAGTGGAATCA	0.328																																																	1	Substitution - Missense(1)	kidney(1)											40.0	40.0	40.0					20																	52835595		2199	4299	6498	SO:0001583	missense	5203			U41816	CCDS13445.1	20q13.2	2008-07-02	2006-02-24		ENSG00000101132	ENSG00000101132			8868	protein-coding gene	gene with protein product		604898	"""prefoldin 4"""			9630229, 8744932	Standard	NM_002623		Approved	PFD4, C-1, C1	uc002xwx.3	Q9NQP4	OTTHUMG00000032775	ENST00000371419.2:c.311G>T	20.37:g.52835595G>T	ENSP00000360473:p.Arg104Ile	Somatic		WXS	Illumina GAIIx	Phase_I	Q5TD11|Q92779	Missense_Mutation	SNP	ENST00000371419.2	37	CCDS13445.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892812	0.72524	.	.	ENSG00000101132	ENST00000371419	T	0.43688	0.94	5.58	5.58	0.84498	Prefoldin beta-like (1);Prefoldin (1);	0.000000	0.85682	D	0.000000	T	0.45696	0.1355	L	0.58669	1.825	0.80722	D	1	P	0.35527	0.507	B	0.36766	0.232	T	0.44345	-0.9334	10	0.54805	T	0.06	-18.7648	18.9044	0.92454	0.0:0.0:1.0:0.0	.	104	Q9NQP4	PFD4_HUMAN	I	104	ENSP00000360473:R104I	ENSP00000360473:R104I	R	+	2	0	PFDN4	52269002	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.876000	0.63079	2.786000	0.95864	0.655000	0.94253	AGA		0.328	PFDN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079771.2		NM_002623	
PHTF1	10745	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	114267480	114267480	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr1:114267480C>G	ENST00000369604.1	-	7	1007	c.524G>C	c.(523-525)cGa>cCa	p.R175P	PHTF1_ENST00000369600.1_Missense_Mutation_p.R122P|PHTF1_ENST00000357783.2_Missense_Mutation_p.R175P|PHTF1_ENST00000447664.2_Missense_Mutation_p.R175P|PHTF1_ENST00000393357.2_Missense_Mutation_p.R175P|PHTF1_ENST00000369596.2_Missense_Mutation_p.R122P|PHTF1_ENST00000369598.1_Intron			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	175					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R175P(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCATTTTCTCGGCTCCCATC	0.343																																																	1	Substitution - Missense(1)	kidney(1)											77.0	76.0	76.0					1																	114267480		2203	4300	6503	SO:0001583	missense	10745			AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.524G>C	1.37:g.114267480C>G	ENSP00000358617:p.Arg175Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	ENST00000369604.1	37	CCDS861.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.247966	0.59103	.	.	ENSG00000116793	ENST00000393357;ENST00000369596;ENST00000369600;ENST00000369604;ENST00000357783;ENST00000447664	.	.	.	5.14	4.23	0.50019	.	0.468058	0.22144	N	0.064014	T	0.16685	0.0401	N	0.24115	0.695	0.28098	N	0.931543	P;P	0.46621	0.811;0.881	B;P	0.48873	0.231;0.593	T	0.03086	-1.1074	9	0.52906	T	0.07	-7.1421	8.8107	0.34965	0.0:0.7689:0.1494:0.0817	.	175;175	Q9UMS5;Q9UMS5-2	PHTF1_HUMAN;.	P	175;122;122;175;175;175	.	ENSP00000350428:R175P	R	-	2	0	PHTF1	114069003	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.686000	0.37669	1.318000	0.45170	-0.244000	0.11960	CGA		0.343	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1		NM_006608	
PLAGL2	5326	broad.mit.edu;hgsc.bcm.edu	37	20	30784297	30784297	+	Silent	SNP	C	C	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr20:30784297C>T	ENST00000246229.4	-	3	1713	c.1449G>A	c.(1447-1449)ctG>ctA	p.L483L		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	483					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L483L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGGTGCTACTCAGGCCAGACG	0.562																																					Colon(163;15 1893 11280 16306 47518)												1	Substitution - coding silent(1)	kidney(1)											56.0	59.0	58.0					20																	30784297		2203	4300	6503	SO:0001819	synonymous_variant	5326				CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"""Zinc fingers, C2H2-type"""	9047	protein-coding gene	gene with protein product	"""C2H2-type zinc finger protein"""	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.1449G>A	20.37:g.30784297C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K8T5|E1P5M3|Q92584	Silent	SNP	ENST00000246229.4	37	CCDS13197.1																																																																																				0.562	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2		NM_002657	
PLCH2	9651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	2435907	2435907	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr1:2435907G>A	ENST00000419816.2	+	22	3780	c.3506G>A	c.(3505-3507)cGt>cAt	p.R1169H	PLCH2_ENST00000378488.3_Missense_Mutation_p.R1133H|PLCH2_ENST00000449969.1_3'UTR|PLCH2_ENST00000378486.3_Missense_Mutation_p.R1169H			O75038	PLCH2_HUMAN	phospholipase C, eta 2	1169					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.R1169H(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGCCGCAGCCGTGAGAACCTC	0.667																																																	1	Substitution - Missense(1)	kidney(1)											34.0	41.0	38.0					1																	2435907		2130	4211	6341	SO:0001583	missense	9651			AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.3506G>A	1.37:g.2435907G>A	ENSP00000389803:p.Arg1169His	Somatic		WXS	Illumina HiSeq	Phase_I	A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.431|9.431	1.085670|1.085670	0.20390|0.20390	.|.	.|.	ENSG00000149527|ENSG00000149527	ENST00000378486;ENST00000378488;ENST00000278878|ENST00000419816	T;T|.	0.24350|.	1.99;1.86|.	3.6|3.6	3.6|3.6	0.41247|0.41247	.|.	3.642240|.	0.00888|.	N|.	0.002208|.	T|T	0.26882|0.26882	0.0658|0.0658	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999998|0.999998	D;P|.	0.57257|.	0.979;0.955|.	P;B|.	0.45474|.	0.482;0.288|.	T|T	0.15378|0.15378	-1.0439|-1.0439	10|5	0.30078|.	T|.	0.28|.	.|.	5.4835|5.4835	0.16737|0.16737	0.2585:0.0:0.7415:0.0|0.2585:0.0:0.7415:0.0	.|.	921;1169|.	B9DI82;O75038|.	.;PLCH2_HUMAN|.	H|M	1169;1133;921|464	ENSP00000367747:R1169H;ENSP00000367749:R1133H|.	ENSP00000278878:R921H|.	R|V	+|+	2|1	0|0	PLCH2|PLCH2	2425767|2425767	0.194000|0.194000	0.23325|0.23325	0.026000|0.026000	0.17262|0.17262	0.013000|0.013000	0.08279|0.08279	1.615000|1.615000	0.36922|0.36922	1.541000|1.541000	0.49316|0.49316	0.561000|0.561000	0.74099|0.74099	CGT|GTG		0.667	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1		NM_014638	
PRPS1	5631	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	106885678	106885678	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chrX:106885678G>A	ENST00000372435.4	+	4	610	c.488G>A	c.(487-489)aGg>aAg	p.R163K	PRPS1_ENST00000543248.1_Missense_Mutation_p.R163K|PRPS1_ENST00000372428.4_Missense_Mutation_p.R96K|PRPS1_ENST00000372418.1_Missense_Mutation_p.R63K	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	163					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|hypoxanthine biosynthetic process (GO:0046101)|nervous system development (GO:0007399)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|pyrimidine nucleotide biosynthetic process (GO:0006221)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|urate biosynthetic process (GO:0034418)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)	p.R163K(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						TCTGAGTGGAGGAACTGCACT	0.433																																																	1	Substitution - Missense(1)	kidney(1)											158.0	133.0	142.0					X																	106885678		2203	4300	6503	SO:0001583	missense	5631			X15331	CCDS14529.1, CCDS76007.1	Xq22.3	2014-09-17			ENSG00000147224	ENSG00000147224	2.7.6.1		9462	protein-coding gene	gene with protein product	"""PRS I"", ""ribose-phosphate diphosphokinase 1"""	311850	"""deafness, X-linked 2, perceptive, congenital"""	DFN2		1962753, 20021999	Standard	NM_002764		Approved	CMTX5, DFNX1	uc004ene.4	P60891	OTTHUMG00000022167	ENST00000372435.4:c.488G>A	X.37:g.106885678G>A	ENSP00000361512:p.Arg163Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B1ALA8|B2R6T7|B4DNL6|D3DUX6|P09329	Missense_Mutation	SNP	ENST00000372435.4	37	CCDS14529.1	.	.	.	.	.	.	.	.	.	.	G	7.117	0.577254	0.13686	.	.	ENSG00000147224	ENST00000372435;ENST00000372428;ENST00000543248;ENST00000372418	D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.36	4.51	3.63	0.41609	Phosphoribosyltransferase (1);	0.098387	0.64402	N	0.000002	T	0.70334	0.3212	N	0.02765	-0.5	0.41518	D	0.988389	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.64659	-0.6355	10	0.07325	T	0.83	.	3.9676	0.09439	0.3401:0.0:0.6599:0.0	.	163;163	Q53FW2;P60891	.;PRPS1_HUMAN	K	163;96;163;63	ENSP00000361512:R163K;ENSP00000361505:R96K;ENSP00000443185:R163K;ENSP00000361495:R63K	ENSP00000361495:R63K	R	+	2	0	PRPS1	106772334	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.316000	0.59178	2.174000	0.68829	0.544000	0.68410	AGG		0.433	PRPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057840.1			
RBM11	54033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	15599585	15599585	+	Nonsense_Mutation	SNP	C	C	T	rs201431914		TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr21:15599585C>T	ENST00000400577.3	+	5	826	c.817C>T	c.(817-819)Cga>Tga	p.R273*	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	273					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)	p.R273*(1)		endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		CCAAAAGTTCCGAAAGTCTAA	0.338																																																	1	Substitution - Nonsense(1)	kidney(1)						C	stop/ARG	0,3792		0,0,1896	96.0	97.0	96.0		817	1.6	0.8	21		96	3,8239		0,3,4118	yes	stop-gained	RBM11	NM_144770.3		0,3,6014	TT,TC,CC		0.0364,0.0,0.0249		273/282	15599585	3,12031	1896	4121	6017	SO:0001587	stop_gained	54033			AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"""RNA binding motif (RRM) containing"""	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.817C>T	21.37:g.15599585C>T	ENSP00000383421:p.Arg273*	Somatic		WXS	Illumina HiSeq	Phase_I	Q6YNC2|Q8NBA1|Q8NFF6	Nonsense_Mutation	SNP	ENST00000400577.3	37	CCDS46635.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385412	0.61956	0.0	3.64E-4	ENSG00000185272	ENST00000400577	.	.	.	4.89	1.64	0.23874	.	0.798663	0.10856	N	0.626636	.	.	.	.	.	.	0.34940	D	0.750254	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0808	12.3719	0.55260	0.6757:0.3243:0.0:0.0	.	.	.	.	X	273	.	ENSP00000383421:R273X	R	+	1	2	RBM11	14521456	0.258000	0.24033	0.776000	0.31678	0.630000	0.37929	0.628000	0.24522	0.646000	0.30693	-0.188000	0.12872	CGA		0.338	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1		NM_144770	
RNF220	55182	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	44878049	44878049	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr1:44878049C>A	ENST00000355387.2	+	2	730	c.280C>A	c.(280-282)Cac>Aac	p.H94N	RNF220_ENST00000361799.2_Missense_Mutation_p.H94N|RNF220_ENST00000372247.2_Missense_Mutation_p.H94N			Q5VTB9	RN220_HUMAN	ring finger protein 220	94					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H94N(2)		endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						TTCTCTACTACACCTCCACCC	0.527																																																	2	Substitution - Missense(2)	kidney(2)											250.0	243.0	245.0					1																	44878049		2203	4300	6503	SO:0001583	missense	55182			AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.280C>A	1.37:g.44878049C>A	ENSP00000347548:p.His94Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Missense_Mutation	SNP	ENST00000355387.2	37	CCDS510.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840263	0.51057	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247	.	.	.	5.9	5.9	0.94986	.	0.056024	0.64402	D	0.000001	T	0.69949	0.3168	L	0.29908	0.895	0.80722	D	1	P	0.45126	0.851	P	0.58391	0.838	T	0.70171	-0.4945	9	0.62326	D	0.03	.	20.2861	0.98535	0.0:1.0:0.0:0.0	.	94	Q5VTB9	RN220_HUMAN	N	94	.	ENSP00000347548:H94N	H	+	1	0	RNF220	44650636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.800000	0.96347	0.655000	0.94253	CAC		0.527	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4		NM_018150	
RNF31	55072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24617487	24617487	+	Silent	SNP	A	A	G			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr14:24617487A>G	ENST00000324103.6	+	3	680	c.360A>G	c.(358-360)cgA>cgG	p.R120R	RNF31_ENST00000557878.1_3'UTR|RNF31_ENST00000559275.1_5'UTR|PSME2_ENST00000560410.1_5'Flank|PSME2_ENST00000471700.2_5'Flank|RP11-468E2.4_ENST00000558468.1_5'Flank|RNF31_ENST00000382687.3_5'Flank|PSME2_ENST00000216802.5_5'Flank	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	120	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R120R(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		ATGTGCTGCGATTATATGGCT	0.567																																																	1	Substitution - coding silent(1)	kidney(1)											50.0	54.0	52.0					14																	24617487		2095	4237	6332	SO:0001819	synonymous_variant	55072			AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.360A>G	14.37:g.24617487A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Silent	SNP	ENST00000324103.6	37	CCDS41931.1																																																																																				0.567	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3		NM_017999	
RPS11	6205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50001200	50001200	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr19:50001200A>G	ENST00000270625.2	+	4	333	c.250A>G	c.(250-252)Agg>Ggg	p.R84G	RPS11_ENST00000599561.1_Missense_Mutation_p.E49G|SNORD35B_ENST00000363660.1_RNA|MIR150_ENST00000385048.1_RNA|RPS11_ENST00000596873.1_Missense_Mutation_p.R84G|RPS11_ENST00000594493.1_Missense_Mutation_p.R5G|hsa-mir-150_ENST00000602157.1_5'Flank	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11	84					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|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)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.R84G(1)		kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		GAAGATGCAGAGGACCATTGT	0.567																																																	1	Substitution - Missense(1)	kidney(1)											96.0	76.0	83.0					19																	50001200		2203	4300	6503	SO:0001583	missense	6205			AB007152	CCDS12769.1	19q13.3	2011-08-03			ENSG00000142534	ENSG00000142534		"""S ribosomal proteins"""	10384	protein-coding gene	gene with protein product	"""40S ribosomal protein S11"""	180471				1577483, 9582194	Standard	NM_001015		Approved	S11	uc002pob.2	P62280		ENST00000270625.2:c.250A>G	19.37:g.50001200A>G	ENSP00000270625:p.Arg84Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B2R4F5|P04643|Q498Y6|Q6IRY0	Missense_Mutation	SNP	ENST00000270625.2	37	CCDS12769.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.360050	0.82353	.	.	ENSG00000142534	ENST00000270625	.	.	.	4.89	3.81	0.43845	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.77948	0.4207	M	0.91300	3.195	0.80722	D	1	D	0.58970	0.984	P	0.58577	0.841	T	0.81861	-0.0738	8	.	.	.	-48.1598	9.4641	0.38802	0.8217:0.1783:0.0:0.0	.	84	P62280	RS11_HUMAN	G	84	.	.	R	+	1	2	RPS11	54693012	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.230000	0.32612	1.830000	0.53286	0.459000	0.35465	AGG		0.567	RPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465288.1		NM_001015	
SERAC1	84947	broad.mit.edu;ucsc.edu	37	6	158569914	158569914	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr6:158569914A>G	ENST00000367104.3	-	5	469	c.338T>C	c.(337-339)cTg>cCg	p.L113P	SERAC1_ENST00000367102.2_Missense_Mutation_p.L113P|SERAC1_ENST00000367101.1_Missense_Mutation_p.L113P|SERAC1_ENST00000607000.1_Missense_Mutation_p.L113P	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	113					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)	p.L113P(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		TGGATTCCGCAGTATCTTGGC	0.338																																																	1	Substitution - Missense(1)	kidney(1)											162.0	129.0	140.0					6																	158569914		2203	4300	6503	SO:0001583	missense	84947			BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.338T>C	6.37:g.158569914A>G	ENSP00000356071:p.Leu113Pro	Somatic		WXS	Illumina GAIIx	Phase_I	Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	ENST00000367104.3	37	CCDS5255.1	.	.	.	.	.	.	.	.	.	.	A	15.73	2.920570	0.52653	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.70631	-0.5;-0.5;-0.5	5.61	5.61	0.85477	.	0.384234	0.29133	N	0.013056	T	0.69124	0.3076	L	0.53249	1.67	0.58432	D	0.999998	D	0.53312	0.959	P	0.56127	0.792	T	0.69756	-0.5059	10	0.87932	D	0	-2.3688	14.7846	0.69793	1.0:0.0:0.0:0.0	.	113	Q96JX3	SRAC1_HUMAN	P	113	ENSP00000356069:L113P;ENSP00000356071:L113P;ENSP00000356068:L113P	ENSP00000356068:L113P	L	-	2	0	SERAC1	158489902	0.999000	0.42202	0.019000	0.16419	0.295000	0.27426	7.472000	0.80996	-0.365000	0.08076	-0.482000	0.04802	CTG		0.338	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1		NM_032861	
SH3TC1	54436	hgsc.bcm.edu;ucsc.edu	37	4	8218768	8218768	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr4:8218768delG	ENST00000245105.3	+	7	780	c.713delG	c.(712-714)aggfs	p.R238fs	SH3TC1_ENST00000539824.1_Frame_Shift_Del_p.R162fs	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	238										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CAGGCCCTCAGGCAGGCTTCG	0.667																																					NSCLC(145;2298 2623 35616 37297)												0													56.0	58.0	57.0					4																	8218768		2203	4300	6503	SO:0001589	frameshift_variant	54436			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.713delG	4.37:g.8218768delG	ENSP00000245105:p.Arg238fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q4W5G5	Frame_Shift_Del	DEL	ENST00000245105.3	37	CCDS3399.1																																																																																				0.667	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2		NM_018986	
SLC27A5	10998	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	59010218	59010218	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr19:59010218C>G	ENST00000263093.2	-	9	1939	c.1830G>C	c.(1828-1830)gaG>gaC	p.E610D	SLC27A5_ENST00000601355.1_Missense_Mutation_p.E526D|SLC27A5_ENST00000599700.1_Intron|SLC27A5_ENST00000594786.1_Missense_Mutation_p.E15D	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	610					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.E610D(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GGTACAACTTCTCCCCGTCGA	0.627																																																	1	Substitution - Missense(1)	kidney(1)											72.0	68.0	69.0					19																	59010218		2203	4300	6503	SO:0001583	missense	10998			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1830G>C	19.37:g.59010218C>G	ENSP00000263093:p.Glu610Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.251419	0.39797	.	.	ENSG00000083807	ENST00000263093	T	0.60040	0.22	4.99	3.95	0.45737	.	1.077370	0.07058	N	0.833279	T	0.41673	0.1169	N	0.13168	0.305	0.19300	N	0.999974	B	0.06786	0.001	B	0.09377	0.004	T	0.25363	-1.0134	10	0.32370	T	0.25	-15.1904	9.4178	0.38532	0.0:0.9008:0.0:0.0992	.	610	Q9Y2P5	S27A5_HUMAN	D	610	ENSP00000263093:E610D	ENSP00000263093:E610D	E	-	3	2	SLC27A5	63702030	0.000000	0.05858	0.435000	0.26784	0.601000	0.36947	0.011000	0.13264	1.229000	0.43630	0.650000	0.86243	GAG		0.627	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1		NM_012254	
SLC9A5	6553	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67304703	67304704	+	Missense_Mutation	DNP	GA	GA	TG			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr16:67304703_67304704GA>TG	ENST00000299798.11	+	16	2346_2347	c.2281_2282GA>TG	c.(2281-2283)GAg>TGg	p.E761W		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	761					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.E761G(1)|p.E761*(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TGCAGAAAAGGAGCTCCCCTGG	0.569																																																	2	Substitution - Nonsense(1)|Substitution - Missense(1)	kidney(2)																																								SO:0001583	missense	6553				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	Exception_encountered	16.37:g.67304703_67304704delinsTG	ENSP00000299798:p.Glu761Trp	Somatic		WXS	Illumina HiSeq	Phase_I	A5PKY7|Q9Y626	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000299798.11	37	CCDS42178.1																																																																																				0.569	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			
SLCO1C1	53919	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	20893281	20893281	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr12:20893281C>T	ENST00000266509.2	+	12	2080	c.1712C>T	c.(1711-1713)cCt>cTt	p.P571L	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.P571L|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.P571L|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.P453L|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.P522L	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	571					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.P571L(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	GGTGGCATACCTGGATACATA	0.368																																																	1	Substitution - Missense(1)	kidney(1)											173.0	167.0	169.0					12																	20893281		2203	4300	6503	SO:0001583	missense	53919			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1712C>T	12.37:g.20893281C>T	ENSP00000266509:p.Pro571Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901984	0.92035	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	5.03	5.03	0.67393	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.78960	0.4366	H	0.95294	3.65	0.80722	D	1	D;D;D;D	0.89917	1.0;0.97;0.97;0.97	D;P;D;P	0.83275	0.996;0.838;0.927;0.873	D	0.85494	0.1187	10	0.72032	D	0.01	.	18.5625	0.91105	0.0:1.0:0.0:0.0	.	453;522;571;571	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	L	571;522;571;571;453	ENSP00000444149:P571L;ENSP00000438665:P522L;ENSP00000266509:P571L;ENSP00000370964:P571L;ENSP00000444527:P453L	ENSP00000266509:P571L	P	+	2	0	SLCO1C1	20784548	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.182000	0.77689	2.605000	0.88082	0.655000	0.94253	CCT		0.368	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1		NM_017435	
SLCO1A2	6579	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	21471822	21471822	+	Silent	SNP	G	G	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr12:21471822G>T	ENST00000307378.6	-	4	816	c.96C>A	c.(94-96)tcC>tcA	p.S32S	SLCO1A2_ENST00000452078.1_Silent_p.S32S|SLCO1A2_ENST00000390670.3_Silent_p.S30S|SLCO1A2_ENST00000473830.1_5'UTR|SLCO1A2_ENST00000537524.1_5'UTR|SLCO1A2_ENST00000458504.1_Intron	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	32					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.S32S(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	ACAGTGTTTTGGATACAAATG	0.323																																																	1	Substitution - coding silent(1)	kidney(1)											90.0	88.0	89.0					12																	21471822		2203	4298	6501	SO:0001819	synonymous_variant	6579				CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.96C>A	12.37:g.21471822G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q9UGP7|Q9UL38	Silent	SNP	ENST00000307378.6	37	CCDS8686.1																																																																																				0.323	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3		NM_021094	
SMG5	23381	broad.mit.edu;hgsc.bcm.edu	37	1	156243168	156243168	+	Silent	SNP	T	T	A			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr1:156243168T>A	ENST00000361813.5	-	6	762	c.618A>T	c.(616-618)tcA>tcT	p.S206S	SMG5_ENST00000368267.5_Silent_p.S206S	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	206					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.S206S(1)		NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GAGGAGCTACTGACAGGGCTT	0.483																																																	1	Substitution - coding silent(1)	kidney(1)											94.0	90.0	91.0					1																	156243168		2203	4300	6503	SO:0001819	synonymous_variant	23381			AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.618A>T	1.37:g.156243168T>A		Somatic		WXS	Illumina HiSeq	Phase_I	D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Silent	SNP	ENST00000361813.5	37	CCDS1137.1																																																																																				0.483	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1		NM_015327	
STAT3	6774	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40485988	40485988	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr17:40485988A>T	ENST00000264657.5	-	9	1189	c.877T>A	c.(877-879)Tac>Aac	p.Y293N	STAT3_ENST00000389272.3_Missense_Mutation_p.Y195N|STAT3_ENST00000585517.1_Missense_Mutation_p.Y293N|STAT3_ENST00000404395.3_Missense_Mutation_p.Y293N|STAT3_ENST00000588969.1_Missense_Mutation_p.Y293N	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	293					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Y293N(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TCCCCTTTGTAGGAAACTTTT	0.428									Hyperimmunoglobulin E Recurrent Infection Syndrome																																								1	Substitution - Missense(1)	kidney(1)											69.0	68.0	68.0					17																	40485988		2203	4300	6503	SO:0001583	missense	6774	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.877T>A	17.37:g.40485988A>T	ENSP00000264657:p.Tyr293Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.836526	0.91117	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	T;T;T	0.63744	-0.06;-0.06;-0.06	5.61	5.61	0.85477	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.000000	0.85682	D	0.000000	T	0.78929	0.4361	M	0.75085	2.285	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.78314	0.984;0.991;0.991	T	0.81326	-0.0983	10	0.66056	D	0.02	-9.9982	15.8096	0.78547	1.0:0.0:0.0:0.0	.	293;293;293	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	N	293;195;293	ENSP00000264657:Y293N;ENSP00000373923:Y195N;ENSP00000384943:Y293N	ENSP00000264657:Y293N	Y	-	1	0	STAT3	37739514	1.000000	0.71417	0.992000	0.48379	0.908000	0.53690	9.297000	0.96120	2.132000	0.65825	0.533000	0.62120	TAC		0.428	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3		NM_139276, NM_003150	
STXBP5L	9515	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	121137382	121137382	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr3:121137382C>T	ENST00000273666.6	+	27	3768	c.3497C>T	c.(3496-3498)gCa>gTa	p.A1166V	STXBP5L_ENST00000471454.1_Missense_Mutation_p.A1142V	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1166	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A1166V(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGTGCAGAAGCATTTTCCAAA	0.438																																																	1	Substitution - Missense(1)	kidney(1)											55.0	59.0	57.0					3																	121137382		1999	4176	6175	SO:0001583	missense	9515			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.3497C>T	3.37:g.121137382C>T	ENSP00000273666:p.Ala1166Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025847	0.54683	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000471262	T;T;T	0.23754	1.89;1.89;1.9	5.59	4.7	0.59300	Synaptobrevin (1);	0.234290	0.44097	D	0.000484	T	0.24890	0.0604	L	0.47716	1.5	0.80722	D	1	B;B	0.31680	0.335;0.335	B;B	0.25140	0.058;0.058	T	0.03662	-1.1015	10	0.62326	D	0.03	-5.5457	16.2727	0.82629	0.0:0.8672:0.1328:0.0	.	1142;1166	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	V	1166;1142;1109	ENSP00000273666:A1166V;ENSP00000420019:A1142V;ENSP00000420167:A1109V	ENSP00000273666:A1166V	A	+	2	0	STXBP5L	122620072	0.911000	0.30947	0.998000	0.56505	0.998000	0.95712	3.867000	0.56047	1.318000	0.45170	0.655000	0.94253	GCA		0.438	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			
TIA1	7072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	70441538	70441538	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr2:70441538C>G	ENST00000433529.2	-	12	1187	c.977G>C	c.(976-978)gGt>gCt	p.G326A	TIA1_ENST00000445587.1_Intron|TIA1_ENST00000482876.1_5'Flank|TIA1_ENST00000415783.2_Missense_Mutation_p.G315A|TIA1_ENST00000282574.4_Missense_Mutation_p.G325A|C2orf42_ENST00000470096.1_Intron	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	326					apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)	p.G326A(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						AACTTGCCAACCATTAGGCAT	0.403																																																	1	Substitution - Missense(1)	kidney(1)											113.0	96.0	102.0					2																	70441538		2203	4300	6503	SO:0001583	missense	7072				CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"""RNA binding motif (RRM) containing"""	11802	protein-coding gene	gene with protein product	"""T-cell-restricted intracellular antigen-1"", ""nucleolysin TIA-1 isoform p40"""	603518	"""TIA1 cytotoxic granule-associated RNA-binding protein"""			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.977G>C	2.37:g.70441538C>G	ENSP00000401371:p.Gly326Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q53SS9	Missense_Mutation	SNP	ENST00000433529.2	37	CCDS1901.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837085	0.91117	.	.	ENSG00000116001	ENST00000433529;ENST00000415783;ENST00000477807;ENST00000282574;ENST00000454815	T;T;T;T	0.33216	1.68;1.86;1.76;1.42	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.53077	0.1774	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.952	T	0.42224	-0.9464	10	0.14252	T	0.57	-14.4045	17.4725	0.87649	0.0:1.0:0.0:0.0	.	315;326	P31483-2;P31483	.;TIA1_HUMAN	A	326;315;403;325;97	ENSP00000401371:G326A;ENSP00000404023:G315A;ENSP00000282574:G325A;ENSP00000402263:G97A	ENSP00000282574:G325A	G	-	2	0	TIA1	70295042	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.699000	0.92147	0.655000	0.94253	GGT		0.403	TIA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251842.2		NM_022037	
TRPM7	54822	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	50867287	50867287	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr15:50867287A>G	ENST00000313478.7	-	34	5062	c.4781T>C	c.(4780-4782)aTa>aCa	p.I1594T	TRPM7_ENST00000560955.1_Missense_Mutation_p.I1593T|TRPM7_ENST00000561443.1_5'UTR	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1594	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.I1593T(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GTTATTTAGTATGTTGGGTGA	0.403																																																	1	Substitution - Missense(1)	kidney(1)											124.0	113.0	116.0					15																	50867287		1855	4091	5946	SO:0001583	missense	54822			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.4781T>C	15.37:g.50867287A>G	ENSP00000320239:p.Ile1594Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	A	0.430	-0.903710	0.02453	.	.	ENSG00000092439	ENST00000313478	T	0.06768	3.26	5.3	5.3	0.74995	MHCK/EF2 kinase (1);Protein kinase-like domain (1);	0.147171	0.64402	D	0.000009	T	0.04452	0.0122	N	0.08118	0	0.41337	D	0.987275	B	0.10296	0.003	B	0.12156	0.007	T	0.18116	-1.0347	10	0.02654	T	1	-23.1417	15.4071	0.74887	1.0:0.0:0.0:0.0	.	1594	Q96QT4	TRPM7_HUMAN	T	1594	ENSP00000320239:I1594T	ENSP00000320239:I1594T	I	-	2	0	TRPM7	48654579	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.670000	0.46833	2.222000	0.72286	0.477000	0.44152	ATA		0.403	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1		NM_017672	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179634827	179634827	+	Silent	SNP	C	C	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr2:179634827C>T	ENST00000591111.1	-	36	8825	c.8601G>A	c.(8599-8601)gtG>gtA	p.V2867V	TTN_ENST00000342992.6_Silent_p.V2867V|TTN_ENST00000589042.1_Silent_p.V2867V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000360870.5_Silent_p.V2867V|TTN_ENST00000342175.6_Silent_p.V2821V|TTN_ENST00000359218.5_Silent_p.V2821V|TTN_ENST00000460472.2_Silent_p.V2821V			Q8WZ42	TITIN_HUMAN	titin	13195					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.V2821V(3)|p.V2867V(3)		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)			ATTGCCCGACCACAGCTGTGT	0.473																																																	6	Substitution - coding silent(6)	kidney(6)											160.0	151.0	154.0					2																	179634827		2203	4300	6503	SO:0001819	synonymous_variant	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.8601G>A	2.37:g.179634827C>T		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	Silent	SNP	ENST00000591111.1	37																																																																																					0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
UBR4	23352	broad.mit.edu;ucsc.edu	37	1	19446815	19446815	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr1:19446815T>C	ENST00000375254.3	-	69	10196	c.10169A>G	c.(10168-10170)cAg>cGg	p.Q3390R	UBR4_ENST00000375267.2_Missense_Mutation_p.Q3390R|UBR4_ENST00000375218.3_5'Flank|UBR4_ENST00000375217.2_Missense_Mutation_p.Q3383R|UBR4_ENST00000375226.2_Missense_Mutation_p.Q3366R	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3390					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q3390R(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGTGCACAGCTGGTCCTCCTG	0.532																																																	1	Substitution - Missense(1)	kidney(1)											100.0	99.0	99.0					1																	19446815		2203	4300	6503	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.10169A>G	1.37:g.19446815T>C	ENSP00000364403:p.Gln3390Arg	Somatic		WXS	Illumina GAIIx	Phase_I	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.629844	0.67015	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.64991	1.93;-0.13;1.94;1.94	5.5	5.5	0.81552	.	0.110232	0.64402	D	0.000006	T	0.64283	0.2584	N	0.19112	0.55	0.80722	D	1	P	0.45126	0.851	P	0.58391	0.838	T	0.67650	-0.5616	10	0.56958	D	0.05	.	14.586	0.68326	0.0:0.0:0.0:1.0	.	3390	Q5T4S7	UBR4_HUMAN	R	3390;3390;3383;3366	ENSP00000364403:Q3390R;ENSP00000364416:Q3390R;ENSP00000364365:Q3383R;ENSP00000364374:Q3366R	ENSP00000364365:Q3383R	Q	-	2	0	UBR4	19319402	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.525000	0.81892	2.302000	0.77476	0.533000	0.62120	CAG		0.532	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		NM_020765	
UGGT1	56886	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	128878020	128878020	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr2:128878020G>A	ENST00000259253.6	+	9	1010	c.963G>A	c.(961-963)tgG>tgA	p.W321*	RN7SL206P_ENST00000580933.1_RNA|UGGT1_ENST00000375990.3_Nonsense_Mutation_p.W297*	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	321					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.W321*(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TAAAGGTTTGGCAGTTGCAAG	0.388																																																	1	Substitution - Nonsense(1)	kidney(1)											163.0	169.0	167.0					2																	128878020		2203	4300	6503	SO:0001587	stop_gained	56886			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.963G>A	2.37:g.128878020G>A	ENSP00000259253:p.Trp321*	Somatic		WXS	Illumina HiSeq	Phase_I	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Nonsense_Mutation	SNP	ENST00000259253.6	37	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	37	6.202757	0.97371	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2958	0.90146	0.0:0.0:1.0:0.0	.	.	.	.	X	297;321	.	ENSP00000259253:W321X	W	+	3	0	UGGT1	128594490	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	9.089000	0.94137	2.308000	0.77769	0.462000	0.41574	TGG		0.388	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2		NM_020120	
USP29	57663	hgsc.bcm.edu;ucsc.edu	37	19	57642738	57642739	+	Missense_Mutation	DNP	CG	CG	AT	rs138755535	byFrequency	TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C|G	C|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr19:57642738_57642739CG>AT	ENST00000254181.4	+	4	3149_3150	c.2695_2696CG>AT	c.(2695-2697)CGg>ATg	p.R899M	USP29_ENST00000598197.1_Missense_Mutation_p.R899M|U3_ENST00000516874.1_RNA	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	899					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAGAACTCTCGGCTACCTAGC	0.495																																																	0																																										SO:0001583	missense	57663				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		Exception_encountered	19.37:g.57642738_57642739delinsAT	ENSP00000254181:p.Arg899Met	Somatic		WXS	Illumina HiSeq	Phase_I		Silent|Missense_Mutation	SNP	ENST00000254181.4	37	CCDS33124.1																																																																																				0.495	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			
USP29	57663	hgsc.bcm.edu;ucsc.edu	37	19	57642746	57642746	+	Silent	SNP	T	T	C			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr19:57642746T>C	ENST00000254181.4	+	4	3157	c.2703T>C	c.(2701-2703)ccT>ccC	p.P901P	USP29_ENST00000598197.1_Silent_p.P901P|U3_ENST00000516874.1_RNA	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	901					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTCGGCTACCTAGCACACAGG	0.493																																																	0													59.0	66.0	64.0					19																	57642746		2203	4300	6503	SO:0001819	synonymous_variant	57663				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.2703T>C	19.37:g.57642746T>C		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000254181.4	37	CCDS33124.1																																																																																				0.493	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191570	10191570	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr3:10191570T>C	ENST00000256474.2	+	3	1403	c.563T>C	c.(562-564)cTg>cCg	p.L188P	VHL_ENST00000345392.2_Missense_Mutation_p.L147P|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	188			L -> P (in VHLD; type I-II). {ECO:0000269|PubMed:9829912}.|L -> Q (in VHLD; type I). {ECO:0000269|PubMed:8956040}.|L -> V (in ECYT2, pheochromocytoma and VHLD; type IIA; dbSNP:rs5030824). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:12844285}.		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.L188P(4)|p.L188fs*14(2)|p.L188Q(2)|p.D187_L188del(2)|p.L188R(2)|p.D187_N193del(1)|p.E189fs*27(1)|p.Y185fs*11(1)|p.D187fs*14(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)		TACGAAGATCTGGAAGACCAC	0.502		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"""	16	Substitution - Missense(8)|Deletion - Frameshift(4)|Deletion - In frame(3)|Insertion - Frameshift(1)	kidney(16)	GRCh37	CD962181|CM951299|CM982013	VHL	D|M							76.0	69.0	72.0					3																	10191570		2203	4300	6503	SO:0001583	missense	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.563T>C	3.37:g.10191570T>C	ENSP00000256474:p.Leu188Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.312357	0.81358	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99878	-7.42;-7.42	4.97	4.97	0.65823	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.000000	0.64402	D	0.000002	D	0.99799	0.9914	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96566	0.9419	10	0.87932	D	0	-7.586	12.9354	0.58311	0.0:0.0:0.0:1.0	.	147;188	P40337-2;P40337	.;VHL_HUMAN	P	188;147;106	ENSP00000256474:L188P;ENSP00000344757:L147P	ENSP00000256474:L188P	L	+	2	0	VHL	10166570	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.790000	0.69038	2.209000	0.71365	0.533000	0.62120	CTG		0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
ZNF106	64397	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	42743699	42743699	+	Silent	SNP	A	A	G			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr15:42743699A>G	ENST00000263805.4	-	2	1028	c.702T>C	c.(700-702)aaT>aaC	p.N234N	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	234					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.N234N(1)									TGTAATTCCAATTATTTGTAC	0.403																																																	1	Substitution - coding silent(1)	kidney(1)											105.0	104.0	105.0					15																	42743699		2203	4299	6502	SO:0001819	synonymous_variant	64397			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.702T>C	15.37:g.42743699A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	CCDS32208.1																																																																																				0.403	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1		NM_022473	
ZNF318	24149	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43308012	43308012	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr6:43308012T>A	ENST00000361428.2	-	10	3801	c.3724A>T	c.(3724-3726)Aac>Tac	p.N1242Y	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1242	Lys-rich.				meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.N1242Y(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCAGGGGAGTTCCTACCCTCA	0.398																																																	1	Substitution - Missense(1)	kidney(1)											181.0	182.0	182.0					6																	43308012		2203	4300	6503	SO:0001583	missense	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3724A>T	6.37:g.43308012T>A	ENSP00000354964:p.Asn1242Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	T	10.15	1.271462	0.23221	.	.	ENSG00000171467	ENST00000361428	T	0.50001	0.76	5.69	1.7	0.24286	.	0.633406	0.16076	N	0.230757	T	0.14270	0.0345	N	0.24115	0.695	0.09310	N	1	P	0.41524	0.753	B	0.40444	0.329	T	0.06734	-1.0810	10	0.66056	D	0.02	-1.9602	4.5417	0.12061	0.0:0.1951:0.3137:0.4912	.	1242	Q5VUA4	ZN318_HUMAN	Y	1242	ENSP00000354964:N1242Y	ENSP00000354964:N1242Y	N	-	1	0	ZNF318	43415990	0.164000	0.22935	0.189000	0.23252	0.980000	0.70556	1.542000	0.36137	0.046000	0.15833	0.533000	0.62120	AAC		0.398	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2		NM_014345	
ZNF346	23567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	176471492	176471492	+	Missense_Mutation	SNP	G	G	A	rs139233067		TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr5:176471492G>A	ENST00000358149.3	+	4	518	c.475G>A	c.(475-477)Gca>Aca	p.A159T	ZNF346_ENST00000506693.1_Intron|ZNF346_ENST00000503039.1_Missense_Mutation_p.A184T|ZNF346_ENST00000511834.1_Missense_Mutation_p.A159T|ZNF346_ENST00000503425.1_Missense_Mutation_p.A127T|ZNF346_ENST00000261948.4_Missense_Mutation_p.A184T|ZNF346_ENST00000512315.1_Intron	NM_012279.2	NP_036411.1	Q9UL40	ZN346_HUMAN	zinc finger protein 346	159					positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A159T(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGACCCACGCAAAGAACTT	0.542																																																	1	Substitution - Missense(1)	kidney(1)						G	THR/ALA	0,4406		0,0,2203	151.0	138.0	142.0		475	4.0	1.0	5	dbSNP_134	142	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF346	NM_012279.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	159/295	176471492	1,13005	2203	4300	6503	SO:0001583	missense	23567			AF083340	CCDS4409.1	5q35.3	2012-10-05			ENSG00000113761	ENSG00000113761			16403	protein-coding gene	gene with protein product		605308				10488071	Standard	NM_012279		Approved	JAZ, Zfp346	uc003mfi.3	Q9UL40	OTTHUMG00000130848	ENST00000358149.3:c.475G>A	5.37:g.176471492G>A	ENSP00000350869:p.Ala159Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z367|Q68CV9|Q6ZMW1	Missense_Mutation	SNP	ENST00000358149.3	37	CCDS4409.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.246410	0.59103	0.0	1.16E-4	ENSG00000113761	ENST00000358149;ENST00000503425;ENST00000261948;ENST00000511834;ENST00000503039	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	4.91	4.04	0.47022	Zinc finger, U1-type (1);	0.269493	0.42964	D	0.000639	T	0.66446	0.2790	M	0.89601	3.045	0.27023	N	0.964424	D;P;P	0.71674	0.998;0.782;0.787	P;B;B	0.58660	0.843;0.294;0.12	T	0.62909	-0.6754	10	0.41790	T	0.15	.	9.7773	0.40628	0.1578:0.0:0.8422:0.0	.	127;184;159	B7Z367;Q9UL40-2;Q9UL40	.;.;ZN346_HUMAN	T	159;127;184;159;184	ENSP00000350869:A159T;ENSP00000421212:A127T;ENSP00000261948:A184T;ENSP00000425725:A159T;ENSP00000424495:A184T	ENSP00000261948:A184T	A	+	1	0	ZNF346	176404098	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.134000	0.77268	1.190000	0.43042	0.637000	0.83480	GCA		0.542	ZNF346-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253415.2		NM_012279	
ZNF423	23090	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	49670777	49670777	+	Silent	SNP	C	C	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr16:49670777C>T	ENST00000561648.1	-	4	2339	c.2286G>A	c.(2284-2286)gaG>gaA	p.E762E	ZNF423_ENST00000562871.1_Silent_p.E702E|ZNF423_ENST00000535559.1_Silent_p.E645E|ZNF423_ENST00000562520.1_Silent_p.E702E|ZNF423_ENST00000262383.2_Silent_p.E762E|ZNF423_ENST00000563137.2_Silent_p.E702E|ZNF423_ENST00000567169.1_Silent_p.E645E	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	762					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E762E(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCAGGTCAGCCTCCTTGCGGA	0.602																																																	2	Substitution - coding silent(2)	kidney(2)											129.0	113.0	119.0					16																	49670777		2198	4300	6498	SO:0001819	synonymous_variant	23090			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2286G>A	16.37:g.49670777C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	37	CCDS32445.1																																																																																				0.602	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1		NM_015069	
ZNF555	148254	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	2853429	2853429	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr19:2853429C>A	ENST00000334241.4	+	4	1504	c.1366C>A	c.(1366-1368)Cag>Aag	p.Q456K	ZNF555_ENST00000591539.1_Missense_Mutation_p.Q455K|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q456K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		TGAATGTAAGCAGTGTGGGAA	0.418																																																	1	Substitution - Missense(1)	kidney(1)											71.0	67.0	68.0					19																	2853429		2203	4300	6503	SO:0001583	missense	148254			AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.1366C>A	19.37:g.2853429C>A	ENSP00000334853:p.Gln456Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	ENST00000334241.4	37	CCDS12096.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.57|11.57	1.679461|1.679461	0.29783|0.29783	.|.	.|.	ENSG00000186300|ENSG00000186300	ENST00000382127|ENST00000334241	.|T	.|0.07327	.|3.2	3.22|3.22	-2.78|-2.78	0.05859|0.05859	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	.|T	.|0.04634	.|0.0126	N|N	0.05078|0.05078	-0.115|-0.115	0.09310|0.09310	N|N	1|1	.|P;P	.|0.38280	.|0.625;0.625	.|B;B	.|0.37304	.|0.246;0.246	.|T	.|0.40327	.|-0.9569	.|9	.|0.48119	.|T	.|0.1	.|.	13.7848|13.7848	0.63104|0.63104	0.0:0.255:0.745:0.0|0.0:0.255:0.745:0.0	.|.	.|456;455	.|Q8NEP9;A8KA89	.|ZN555_HUMAN;.	.|K	-1|456	.|ENSP00000334853:Q456K	.|ENSP00000334853:Q456K	.|Q	+|+	.|1	.|0	ZNF555|ZNF555	2804429|2804429	0.000000|0.000000	0.05858|0.05858	0.197000|0.197000	0.23402|0.23402	0.998000|0.998000	0.95712|0.95712	0.083000|0.083000	0.14871|0.14871	-0.162000|-0.162000	0.10964|0.10964	0.561000|0.561000	0.74099|0.74099	.|CAG		0.418	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3		NM_152791	
ZNF625	90589	hgsc.bcm.edu	37	19	12256227	12256228	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr19:12256227_12256228delTG	ENST00000355738.1	-	4	1154_1155	c.805_806delCA	c.(805-807)caafs	p.Q269fs	CTC-359D24.3_ENST00000472362.1_RNA|ZNF625_ENST00000439556.2_Frame_Shift_Del_p.Q335fs|ZNF625_ENST00000542938.1_Frame_Shift_Del_p.Q269fs|ZNF625_ENST00000455799.1_3'UTR|ZNF625-ZNF20_ENST00000430024.1_Intron			Q96I27	ZN625_HUMAN	zinc finger protein 625	269					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TTTACCACATTGTTTACATTCA	0.475																																																	0																																										SO:0001589	frameshift_variant	90589			BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"""Zinc fingers, C2H2-type"", ""-"""	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.805_806delCA	19.37:g.12256227_12256228delTG	ENSP00000347977:p.Gln269fs	Somatic		WXS	Illumina HiSeq	Phase_I	A4FU45|I3L0E9	Frame_Shift_Del	DEL	ENST00000355738.1	37																																																																																					0.475	ZNF625-201	KNOWN	basic	protein_coding	protein_coding			NM_145233	
ZNF790	388536	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	37310789	37310789	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr19:37310789G>C	ENST00000356725.4	-	5	577	c.457C>G	c.(457-459)Cag>Gag	p.Q153E	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	153					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q153E(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ACTGTATGCTGGTTAAAAGTG	0.398																																																	1	Substitution - Missense(1)	kidney(1)											139.0	134.0	136.0					19																	37310789		2203	4300	6503	SO:0001583	missense	388536			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.457C>G	19.37:g.37310789G>C	ENSP00000349161:p.Gln153Glu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000356725.4	37	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	G	7.867	0.727328	0.15439	.	.	ENSG00000197863	ENST00000356725;ENST00000528994	T;T	0.15952	2.38;6.36	3.01	1.91	0.25777	.	.	.	.	.	T	0.14787	0.0357	L	0.52759	1.655	0.09310	N	1	B	0.23316	0.083	B	0.19946	0.027	T	0.28776	-1.0033	9	0.22109	T	0.4	.	8.4934	0.33115	0.0:0.0:0.7669:0.2331	.	153	Q6PG37	ZN790_HUMAN	E	153	ENSP00000349161:Q153E;ENSP00000435944:Q153E	ENSP00000349161:Q153E	Q	-	1	0	ZNF790	42002629	0.001000	0.12720	0.003000	0.11579	0.019000	0.09904	0.510000	0.22723	0.547000	0.28938	0.467000	0.42956	CAG		0.398	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2		NM_206894	
ZSCAN29	146050	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43661240	43661240	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr15:43661240T>A	ENST00000396976.2	-	2	538	c.404A>T	c.(403-405)cAg>cTg	p.Q135L	ZSCAN29_ENST00000568898.1_Missense_Mutation_p.Q134L|TUBGCP4_ENST00000564079.1_5'Flank|TUBGCP4_ENST00000260383.7_5'Flank|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.Q134L|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.Q135L|ZSCAN29_ENST00000563508.1_5'Flank	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	135					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.Q135L(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CACTGACTCCTGCCGAACACT	0.547																																																	1	Substitution - Missense(1)	kidney(1)											123.0	124.0	124.0					15																	43661240		2201	4299	6500	SO:0001583	missense	146050			AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.404A>T	15.37:g.43661240T>A	ENSP00000380174:p.Gln135Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	ENST00000396976.2	37	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	T	11.68	1.710209	0.30322	.	.	ENSG00000140265	ENST00000396976;ENST00000396972	T;T	0.06933	3.26;3.24	4.89	3.75	0.43078	.	0.000000	0.48286	D	0.000197	T	0.12902	0.0313	L	0.31157	0.91	0.23872	N	0.996607	B;B;B;D	0.54601	0.002;0.008;0.014;0.967	B;B;B;D	0.65140	0.006;0.003;0.018;0.932	T	0.13335	-1.0513	10	0.22109	T	0.4	-12.3274	7.9284	0.29889	0.1827:0.0:0.0:0.8173	.	135;134;135;135	Q8IWY8-4;C9K0J8;Q8IWY8-3;Q8IWY8	.;.;.;ZSC29_HUMAN	L	135	ENSP00000380174:Q135L;ENSP00000380170:Q135L	ENSP00000380170:Q135L	Q	-	2	0	ZSCAN29	41448532	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.755000	0.47540	0.962000	0.38057	0.533000	0.62120	CAG		0.547	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1		NM_152455	
PIANP	196500	broad.mit.edu	37	12	6804739	6804739	+	Silent	SNP	C	C	T			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr12:6804739C>T	ENST00000540656.1	-	5	1022	c.684G>A	c.(682-684)ctG>ctA	p.L228L	PIANP_ENST00000534837.1_Silent_p.L228L|PIANP_ENST00000320591.5_Silent_p.L228L	NM_001244015.1	NP_001230944.1	Q8IYJ0	PIANP_HUMAN	PILR alpha associated neural protein	228						integral component of membrane (GO:0016021)		p.L228L(1)									ACAGGTCTGTCAGTGGCTGCT	0.682																																																	1	Substitution - coding silent(1)	kidney(1)											39.0	42.0	41.0					12																	6804739		2006	4162	6168	SO:0001819	synonymous_variant	0			BC035736	CCDS44818.1, CCDS58205.1	12p13.31	2012-08-17	2012-08-17	2012-08-17	ENSG00000139200	ENSG00000139200			25338	protein-coding gene	gene with protein product	"""PILR-associating neural protein"""		"""chromosome 12 open reading frame 53"""	C12orf53		12975309	Standard	NM_153685		Approved	DKFZp547D2210, PANP	uc001qqf.2	Q8IYJ0	OTTHUMG00000168664	ENST00000540656.1:c.684G>A	12.37:g.6804739C>T		Somatic		WXS	Illumina GAIIx	Phase_I	A8K0T3|B3KPF7|B3KRI6|Q6UX35	Silent	SNP	ENST00000540656.1	37	CCDS44818.1																																																																																				0.682	PIANP-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400524.1		NM_153685	
SRP54-AS1	100506157	broad.mit.edu	37	14	35409694	35409694	+	RNA	DEL	A	A	-	rs375593765|rs200799203|rs370958687		TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr14:35409694delA	ENST00000556355.1	-	0	257				RP11-85K15.2_ENST00000555015.1_RNA																							TCCAGTGATTAAAAAAAATTT	0.388																																																	0																																												0																															14.37:g.35409694delA		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL	ENST00000556355.1	37																																																																																					0.388	RP11-85K15.2-004	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000410682.2			
FIGF	2277	broad.mit.edu	37	X	15402300	15402301	+	De_novo_Start_OutOfFrame	INS	-	-	CTCATG	rs201754634|rs199927727		TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chrX:15402300_15402301insCTCATG	ENST00000297904.3	-	0	197_198					NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)						angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					ATCAAAATGTTCTCCAAAAATA	0.327														1483	0.392848	0.3865	0.1513	3775	,	,		14009	0.3155		0.1879	False		,,,				2504	0.3681																0																																												2277			AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.-233->CATGAG	X.37:g.15402300_15402301insCTCATG		Somatic		WXS	Illumina GAIIx	Phase_I	B2R7Z3	Translation_Start_Site	INS	ENST00000297904.3	37	CCDS14166.1																																																																																				0.327	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055859.1		NM_004469	
FOXO3	2309	broad.mit.edu	37	6	108985392	108985392	+	Silent	SNP	A	A	G			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr6:108985392A>G	ENST00000343882.6	+	3	1660	c.1356A>G	c.(1354-1356)caA>caG	p.Q452Q	FOXO3_ENST00000406360.1_Silent_p.Q452Q|FOXO3_ENST00000540898.1_Silent_p.Q232Q	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	452					antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q452Q(1)		central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		AGACCATCCAAGAGAACAAGC	0.552																																																	1	Substitution - coding silent(1)	kidney(1)											56.0	52.0	53.0					6																	108985392		2050	4075	6125	SO:0001819	synonymous_variant	2309			AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"""Forkhead boxes"""	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.1356A>G	6.37:g.108985392A>G		Somatic		WXS	Illumina GAIIx	Phase_I	B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Silent	SNP	ENST00000343882.6	37	CCDS5068.1																																																																																				0.552	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2			
IFRD1	3475	broad.mit.edu	37	7	112090771	112090771	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr7:112090771delC	ENST00000403825.3	+	1	289	c.28delC	c.(28-30)cccfs	p.P10fs	IFRD1_ENST00000005558.4_Frame_Shift_Del_p.P10fs|IFRD1_ENST00000535603.1_5'Flank|IFRD1_ENST00000429071.1_Frame_Shift_Del_p.P10fs	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	10					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						GCGGAACACTCCCCACCgcgg	0.667																																																	0													18.0	20.0	19.0					7																	112090771		2169	4268	6437	SO:0001589	frameshift_variant	3475			Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.28delC	7.37:g.112090771delC	ENSP00000384477:p.Pro10fs	Somatic		WXS	Illumina GAIIx	Phase_I	B7Z5G1|O75234|Q5U013|Q9BVE4	Frame_Shift_Del	DEL	ENST00000403825.3	37	CCDS34736.1																																																																																				0.667	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1		NM_001550	
MRPL57	78988	broad.mit.edu	37	13	21751241	21751241	+	Missense_Mutation	SNP	C	C	G	rs371867311		TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr13:21751241C>G	ENST00000309594.4	+	2	264	c.186C>G	c.(184-186)caC>caG	p.H62Q	SKA3_ENST00000400018.3_5'Flank|SKA3_ENST00000314759.5_5'Flank	NM_024026.4	NP_076931.1	Q9BQC6	RT63_HUMAN		62					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)	p.H62Q(1)		kidney(1)|lung(2)|skin(1)|urinary_tract(1)	5		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)		AGCGCGGCCACGCCGCGGTGC	0.642																																																	1	Substitution - Missense(1)	kidney(1)											36.0	36.0	36.0					13																	21751241		2203	4300	6503	SO:0001583	missense	78988																														ENST00000309594.4:c.186C>G	13.37:g.21751241C>G	ENSP00000310726:p.His62Gln	Somatic		WXS	Illumina GAIIx	Phase_I	A2A332	Missense_Mutation	SNP	ENST00000309594.4	37	CCDS9296.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833158	0.50951	.	.	ENSG00000173141	ENST00000309594	.	.	.	5.86	2.23	0.28157	.	0.000000	0.85682	D	0.000000	T	0.75421	0.3847	M	0.81942	2.565	0.40023	D	0.975435	D	0.76494	0.999	D	0.66847	0.947	T	0.76198	-0.3047	9	0.72032	D	0.01	-7.3633	9.4946	0.38980	0.0:0.6637:0.0:0.3363	.	62	Q9BQC6	RT63_HUMAN	Q	62	.	ENSP00000310726:H62Q	H	+	3	2	MRP63	20649241	0.997000	0.39634	0.004000	0.12327	0.000000	0.00434	0.525000	0.22956	0.403000	0.25479	-0.150000	0.13652	CAC		0.642	MRP63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044105.2			
MUC4	4585	broad.mit.edu	37	3	195506460	195506460	+	Missense_Mutation	SNP	G	G	C	rs113130007	byFrequency	TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr3:195506460G>C	ENST00000463781.3	-	2	12450	c.11991C>G	c.(11989-11991)caC>caG	p.H3997Q	MUC4_ENST00000475231.1_Missense_Mutation_p.H3997Q|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H3997Q(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.602													.|||	3	0.000599042	0.0015	0.0	5008	,	,		9092	0.0		0.0	False		,,,				2504	0.001																2	Substitution - Missense(2)	endometrium(1)|kidney(1)											13.0	10.0	11.0					3																	195506460		669	1476	2145	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11991C>G	3.37:g.195506460G>C	ENSP00000417498:p.His3997Gln	Somatic		WXS	Illumina GAIIx	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	4.646	0.120143	0.08881	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.33216	1.42;1.51	0.764	-0.332	0.12675	.	0.000000	0.25267	U	0.031920	T	0.16642	0.0400	N	0.19112	0.55	0.09310	N	1	B	0.29988	0.264	B	0.35899	0.213	T	0.21552	-1.0242	9	.	.	.	.	5.1972	0.15245	0.2456:0.0:0.7544:0.0	.	3869	E7ESK3	.	Q	3997	ENSP00000417498:H3997Q;ENSP00000420243:H3997Q	.	H	-	3	2	MUC4	196991239	0.000000	0.05858	0.001000	0.08648	0.185000	0.23345	-0.425000	0.07017	-0.110000	0.12022	0.064000	0.15345	CAC		0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
NBPF8	728841	broad.mit.edu	37	1	144220807	144220807	+	Missense_Mutation	SNP	A	A	C	rs375759831		TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr1:144220807A>C	ENST00000369373.5	+	2	74	c.74A>C	c.(73-75)gAt>gCt	p.D25A				Q3BBV2	NBPF8_HUMAN	neuroblastoma breakpoint family, member 8	665						cytoplasm (GO:0005737)											GAGCTGCTGGATGAGAAAGAG	0.483																																																	0																																										SO:0001583	missense	400818			AY894572		1q21.1	2014-04-01	2013-04-24	2013-04-24	ENSG00000162825	ENSG00000162825		"""neuroblastoma breakpoint family"""	31990	protein-coding gene	gene with protein product		613998	"""neuroblastoma breakpoint family, member 8, pseudogene"""	NBPF8P		16079250	Standard	NM_001037501		Approved			Q3BBV2	OTTHUMG00000074805	ENST00000369373.5:c.74A>C	1.37:g.144220807A>C	ENSP00000358380:p.Asp25Ala	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000369373.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	7.405|7.405	0.633647|0.633647	0.14322|0.14322	.|.	.|.	ENSG00000162825|ENSG00000162825	ENST00000369373|ENST00000369365	T|.	0.07021|.	3.23|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39835|.	0.1093|.	.|.	.|.	.|.	0.80722|.	D|.	1.000000|.	P;.;B;B|.	0.52842|.	0.956;.;0.04;0.002|.	P;.;B;B|.	0.57502|.	0.822;.;0.074;0.015|.	T|.	0.29610|.	-1.0006|.	4|.	0.33940|.	T|.	0.23|.	.|.	.|.	.|.	.|.	.|.	431;598;373;440|.	Q5VTG8;B4DG53;Q8IX72;Q5TB04|.	.;.;.;.|.	A|L	25|3576	ENSP00000358380:D25A|.	ENSP00000358380:D25A|.	D|M	+|+	2|1	0|0	RP3-377D14.1|RP3-377D14.1	142932164|142932164	0.533000|0.533000	0.26354|0.26354	.|.	.|.	.|.	.|.	0.868000|0.868000	0.27982|0.27982	.|.	.|.	.|.	.|.	GAT|ATG		0.483	NBPF8-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding				
NEFM	4741	broad.mit.edu	37	8	24775663	24775663	+	Silent	SNP	G	G	A			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr8:24775663G>A	ENST00000221166.5	+	3	3077	c.2295G>A	c.(2293-2295)ggG>ggA	p.G765G	NEFM_ENST00000437366.2_Silent_p.G726G|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000518131.1_Intron|NEFM_ENST00000433454.2_Silent_p.G389G			P07197	NFM_HUMAN	neurofilament, medium polypeptide	765	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)	p.G765G(3)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		aagaagaggggaagccactgc	0.532																																																	3	Substitution - coding silent(3)	kidney(3)											31.0	20.0	24.0					8																	24775663		2058	4009	6067	SO:0001819	synonymous_variant	4741			BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.2295G>A	8.37:g.24775663G>A		Somatic		WXS	Illumina GAIIx	Phase_I	B4DGN2|E9PBF7|Q4QRK6	Silent	SNP	ENST00000221166.5	37	CCDS6046.1																																																																																				0.532	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2		NM_005382	
PARS2	25973	broad.mit.edu	37	1	55224781	55224781	+	Missense_Mutation	SNP	G	G	T	rs374449269		TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr1:55224781G>T	ENST00000371279.3	-	2	136	c.54C>A	c.(52-54)agC>agA	p.S18R		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	18					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)	p.S18R(1)		breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	AGAGCTGGCGGCTGCAGGTGG	0.602																																																	1	Substitution - Missense(1)	kidney(1)											23.0	22.0	23.0					1																	55224781		2202	4297	6499	SO:0001583	missense	25973			AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"""Aminoacyl tRNA synthetases / Class II"""	30563	protein-coding gene	gene with protein product	"""proline tRNA ligase 2, mitochondrial (putative)"""	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.54C>A	1.37:g.55224781G>T	ENSP00000360327:p.Ser18Arg	Somatic		WXS	Illumina GAIIx	Phase_I	A8K0W4|Q9H6S5|Q9UFT1	Missense_Mutation	SNP	ENST00000371279.3	37	CCDS597.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.567181	0.00895	.	.	ENSG00000162396	ENST00000371279	T	0.53857	0.6	4.55	1.61	0.23674	.	0.796070	0.11983	N	0.510608	T	0.33000	0.0848	L	0.27053	0.805	0.09310	N	1	B	0.34015	0.435	B	0.30782	0.12	T	0.14671	-1.0464	10	0.12430	T	0.62	-4.5122	8.4699	0.32980	0.2468:0.0:0.7532:0.0	.	18	Q7L3T8	SYPM_HUMAN	R	18	ENSP00000360327:S18R	ENSP00000360327:S18R	S	-	3	2	PARS2	54997369	0.008000	0.16893	0.074000	0.20217	0.011000	0.07611	0.068000	0.14531	0.138000	0.18790	0.467000	0.42956	AGC		0.602	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1		NM_152268	
LOC101060604	101060604	broad.mit.edu	37	16	21531066	21531066	+	IGR	DEL	G	G	-			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr16:21531066delG								MIR3680-1 (13610 upstream) : SCARNA6 (67881 downstream)																							GTAGAGATGTGGGAGCCAGGG	0.572																																																	0																																										SO:0001628	intergenic_variant	387254																															16.37:g.21531066delG		Somatic		WXS	Illumina GAIIx	Phase_I		Frame_Shift_Del	DEL		37																																																																																				0	0.572									
LINC01206	100996490	broad.mit.edu	37	3	181723083	181723083	+	lincRNA	DEL	A	A	-			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr3:181723083delA	ENST00000482787.3	+	0	4197					NR_104146.1																						CTCAAAATGGAAAATTAAAAA	0.408																																																	0																																												0																															3.37:g.181723083delA		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL	ENST00000482787.3	37																																																																																					0.408	RP11-416O18.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000350465.3			
WDR81	124997	broad.mit.edu	37	17	1636960	1636960	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5705-01A-11D-1534-10	TCGA-B0-5705-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3095df5-5466-4b98-9f6d-f8ae8916ccca	2dd91fc7-6495-4981-97ca-d695f190215c	g.chr17:1636960delC	ENST00000409644.1	+	7	4629	c.4629delC	c.(4627-4629)gacfs	p.D1543fs	WDR81_ENST00000545662.1_Frame_Shift_Del_p.D174fs|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_Frame_Shift_Del_p.D492fs|WDR81_ENST00000446363.1_Frame_Shift_Del_p.D182fs|WDR81_ENST00000437219.2_Frame_Shift_Del_p.D340fs|WDR81_ENST00000419248.1_Frame_Shift_Del_p.D316fs	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1543					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCGAGTGGGACCCCCATGGTG	0.677																																																	0													26.0	30.0	29.0					17																	1636960		2202	4293	6495	SO:0001589	frameshift_variant	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4629delC	17.37:g.1636960delC	ENSP00000386609:p.Asp1543fs	Somatic		WXS	Illumina GAIIx	Phase_I	B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Frame_Shift_Del	DEL	ENST00000409644.1	37	CCDS54062.1																																																																																				0.677	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2		NM_152348	
