#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
ABLIM3	22885	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	148629402	148629402	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr5:148629402A>C	ENST00000506113.1	+	18	2206	c.1724A>C	c.(1723-1725)gAc>gCc	p.D575A	ABLIM3_ENST00000326685.7_Missense_Mutation_p.D480A|ABLIM3_ENST00000309868.7_Missense_Mutation_p.D575A|ABLIM3_ENST00000356541.3_Missense_Mutation_p.D464A|ABLIM3_ENST00000517451.1_Missense_Mutation_p.D61A|ABLIM3_ENST00000508983.1_Missense_Mutation_p.D542A|ABLIM3_ENST00000504238.1_Missense_Mutation_p.D464A|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	575					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)	p.D575A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACCTGGCTGACAGTGGTAAG	0.498																																																	1	Substitution - Missense(1)	kidney(1)											174.0	148.0	157.0					5																	148629402		2203	4300	6503	SO:0001583	missense	22885			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1724A>C	5.37:g.148629402A>C	ENSP00000425394:p.Asp575Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.124405	0.56613	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983;ENST00000517451;ENST00000536903	T;T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32;1.32	4.83	4.83	0.62350	.	0.243912	0.39615	N	0.001313	T	0.18593	0.0446	N	0.08118	0	0.47153	D	0.999338	B;B;B;B	0.29085	0.073;0.044;0.044;0.232	B;B;B;B	0.24006	0.04;0.026;0.05;0.046	T	0.09037	-1.0693	10	0.15066	T	0.55	.	14.3691	0.66828	1.0:0.0:0.0:0.0	.	61;480;464;575	O94929-4;O94929-3;O94929-2;O94929	.;.;.;ABLM3_HUMAN	A	480;464;575;575;464;542;61;60	ENSP00000315841:D480A;ENSP00000348938:D464A;ENSP00000310309:D575A;ENSP00000425394:D575A;ENSP00000421183:D464A;ENSP00000420855:D542A;ENSP00000430150:D61A	ENSP00000310309:D575A	D	+	2	0	ABLIM3	148609595	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.092000	0.76930	1.933000	0.56026	0.459000	0.35465	GAC		0.498	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1		NM_014945	
C16orf93	90835	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	30768957	30768957	+	Missense_Mutation	SNP	C	C	T	rs201418865	byFrequency	TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr16:30768957C>T	ENST00000543610.1	-	9	1797	c.836G>A	c.(835-837)cGa>cAa	p.R279Q	PHKG2_ENST00000424889.3_Intron|C16orf93_ENST00000541260.1_Missense_Mutation_p.R344Q|PHKG2_ENST00000563588.1_3'UTR	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	279								p.R242Q(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						GATGTAGGCTCGGAGGACGTG	0.607													C|||	16	0.00319489	0.0	0.0	5008	,	,		20303	0.0		0.0	False		,,,				2504	0.0164																1	Substitution - Missense(1)	kidney(1)						C	,,GLN/ARG	0,4394		0,0,2197	53.0	52.0	53.0		,,836	-0.3	0.9	16		53	1,8599	1.2+/-3.3	0,1,4299	no	utr-3,intron,missense	PHKG2,C16orf93	NM_000294.2,NM_001172432.1,NM_001014979.2	,,43	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	,,benign	,,279/332	30768957	1,12993	2197	4300	6497	SO:0001583	missense	90835			BC042548	CCDS32434.1, CCDS32434.2, CCDS55993.1	16p11.2	2012-10-10			ENSG00000196118	ENSG00000196118			28078	protein-coding gene	gene with protein product							Standard	NM_001195620		Approved	MGC104706	uc002dzm.3	A1A4V9	OTTHUMG00000167926	ENST00000543610.1:c.836G>A	16.37:g.30768957C>T	ENSP00000437532:p.Arg279Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A1A4V8|F5GX13|Q569G2	Missense_Mutation	SNP	ENST00000543610.1	37	CCDS32434.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.640|7.640	0.680706|0.680706	0.14907|0.14907	0.0|0.0	1.16E-4|1.16E-4	ENSG00000196118|ENSG00000196118	ENST00000535476|ENST00000354963;ENST00000543610	.|.	.|.	.|.	5.97|5.97	-0.265|-0.265	0.12946|0.12946	.|.	.|0.655189	.|0.13828	.|N	.|0.359952	T|T	0.26304|0.26304	0.0642|0.0642	N|N	0.11756|0.11756	0.17|0.17	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.28636	.|0.014;0.218;0.006	.|B;B;B	.|0.17433	.|0.012;0.018;0.008	T|T	0.09037|0.09037	-1.0693|-1.0693	5|9	.|0.13108	.|T	.|0.6	-1.7863|-1.7863	8.76|8.76	0.34669|0.34669	0.0:0.5098:0.0:0.4902|0.0:0.5098:0.0:0.4902	.|.	.|242;51;279	.|A1A4V9-2;A1A4V9-3;A1A4V9	.|.;.;CP093_HUMAN	K|Q	146|242;279	.|.	.|ENSP00000347050:R242Q	E|R	-|-	1|2	0|0	C16orf93|C16orf93	30676458|30676458	0.651000|0.651000	0.27340|0.27340	0.925000|0.925000	0.36789|0.36789	0.062000|0.062000	0.15995|0.15995	0.062000|0.062000	0.14389|0.14389	-0.256000|-0.256000	0.09473|0.09473	-0.982000|-0.982000	0.02568|0.02568	GAG|CGA		0.607	C16orf93-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397089.1		NM_001014979	
C4orf33	132321	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	130023911	130023911	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr4:130023911C>G	ENST00000281146.5	+	2	867	c.146C>G	c.(145-147)cCa>cGa	p.P49R	C4orf33_ENST00000502887.1_Missense_Mutation_p.P49R|C4orf33_ENST00000425929.1_Missense_Mutation_p.P49R	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33	49								p.P49R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						CTTGGAGAACCAGGAAAACCT	0.413																																																	1	Substitution - Missense(1)	kidney(1)											137.0	136.0	137.0					4																	130023911		2203	4300	6503	SO:0001583	missense	132321			AK091022	CCDS3741.1	4q28.2	2008-02-05			ENSG00000151470	ENSG00000151470			27025	protein-coding gene	gene with protein product						12477932	Standard	NM_001099783		Approved	FLJ33703	uc010iod.3	Q8N1A6	OTTHUMG00000133347	ENST00000281146.5:c.146C>G	4.37:g.130023911C>G	ENSP00000281146:p.Pro49Arg	Somatic		WXS	Illumina HiSeq	Phase_I	D3DNY2|Q6PJF3|Q8NBC5	Missense_Mutation	SNP	ENST00000281146.5	37	CCDS3741.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986155	0.74589	.	.	ENSG00000151470	ENST00000281146;ENST00000502887;ENST00000425929;ENST00000508673;ENST00000508622	T;T;T;T;T	0.48522	1.43;1.43;1.43;0.87;0.81	4.59	4.59	0.56863	.	0.106561	0.64402	D	0.000003	T	0.59865	0.2225	M	0.78637	2.42	0.53688	D	0.999972	P;D	0.53462	0.904;0.96	P;P	0.54312	0.667;0.748	T	0.64419	-0.6412	10	0.66056	D	0.02	-31.7291	10.3101	0.43704	0.0:0.9073:0.0:0.0927	.	49;49	D6RIT3;Q8N1A6	.;CD033_HUMAN	R	49	ENSP00000281146:P49R;ENSP00000427406:P49R;ENSP00000401090:P49R;ENSP00000427096:P49R;ENSP00000427431:P49R	ENSP00000281146:P49R	P	+	2	0	C4orf33	130243361	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.376000	0.66178	2.524000	0.85096	0.655000	0.94253	CCA		0.413	C4orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257177.2		NM_173487	
C6orf58	352999	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	127902329	127902329	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr6:127902329T>G	ENST00000329722.7	+	4	588	c.576T>G	c.(574-576)taT>taG	p.Y192*		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	192						extracellular vesicular exosome (GO:0070062)		p.Y192*(1)		kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TACCTTAGTATTTGCAGTCAC	0.323																																																	1	Substitution - Nonsense(1)	kidney(1)											94.0	90.0	91.0					6																	127902329		2203	4297	6500	SO:0001587	stop_gained	352999			BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.576T>G	6.37:g.127902329T>G	ENSP00000328069:p.Tyr192*	Somatic		WXS	Illumina HiSeq	Phase_I	B4E1I0|Q5VUP2	Nonsense_Mutation	SNP	ENST00000329722.7	37	CCDS34533.1	.	.	.	.	.	.	.	.	.	.	T	17.99	3.524297	0.64747	.	.	ENSG00000184530	ENST00000329722	.	.	.	4.07	0.0556	0.14315	.	0.681047	0.14627	N	0.308036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.604	2.4153	0.04435	0.2082:0.2362:0.0:0.5556	.	.	.	.	X	192	.	ENSP00000328069:Y192X	Y	+	3	2	C6orf58	127944022	0.002000	0.14202	0.001000	0.08648	0.366000	0.29705	-0.557000	0.05985	0.244000	0.21351	0.477000	0.44152	TAT		0.323	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042152.1		NM_001010905	
CARD6	84674	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	40843790	40843790	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr5:40843790G>A	ENST00000254691.5	+	2	1019	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K	CARD6_ENST00000381677.3_Missense_Mutation_p.E274K	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	274	Asp/Glu-rich.				apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)			p.E274K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						ATTGGAGGAGGAACAGGAGAA	0.398																																																	1	Substitution - Missense(1)	kidney(1)											53.0	53.0	53.0					5																	40843790		2203	4300	6503	SO:0001583	missense	84674			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.820G>A	5.37:g.40843790G>A	ENSP00000254691:p.Glu274Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607911	0.66558	.	.	ENSG00000132357	ENST00000254691;ENST00000381677;ENST00000444789;ENST00000509771	T;T	0.43688	2.45;0.94	5.09	5.09	0.68999	.	0.145914	0.31381	N	0.007747	T	0.49098	0.1537	L	0.32530	0.975	0.30948	N	0.725038	D	0.76494	0.999	D	0.62955	0.909	T	0.48080	-0.9066	10	0.34782	T	0.22	-19.7314	13.8653	0.63585	0.0:0.0:1.0:0.0	.	274	Q9BX69	CARD6_HUMAN	K	274	ENSP00000254691:E274K;ENSP00000371093:E274K	ENSP00000254691:E274K	E	+	1	0	CARD6	40879547	0.985000	0.35326	0.981000	0.43875	0.951000	0.60555	4.093000	0.57714	2.662000	0.90505	0.655000	0.94253	GAA		0.398	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			
CCDC148	130940	broad.mit.edu;ucsc.edu	37	2	159196824	159196824	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr2:159196824T>C	ENST00000283233.5	-	5	729	c.416A>G	c.(415-417)tAc>tGc	p.Y139C	CCDC148_ENST00000409889.1_Missense_Mutation_p.Y139C|CCDC148_ENST00000409187.1_Missense_Mutation_p.Y148C|CCDC148_ENST00000536771.1_Missense_Mutation_p.Y53C	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	139								p.Y139C(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATGCTGTCTGTATTTTAGATC	0.353																																																	1	Substitution - Missense(1)	kidney(1)											153.0	145.0	148.0					2																	159196824		2203	4300	6503	SO:0001583	missense	130940				CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.416A>G	2.37:g.159196824T>C	ENSP00000283233:p.Tyr139Cys	Somatic		WXS	Illumina GAIIx	Phase_I	F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Missense_Mutation	SNP	ENST00000283233.5	37	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	T	11.13	1.548382	0.27652	.	.	ENSG00000153237	ENST00000283233;ENST00000409187;ENST00000536771;ENST00000409889	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.3	2.49	0.30216	.	.	.	.	.	T	0.36413	0.0966	L	0.48362	1.52	0.21064	N	0.999793	B;B	0.17667	0.009;0.023	B;B	0.16289	0.007;0.015	T	0.25710	-1.0124	9	0.39692	T	0.17	-1.43	4.4411	0.11575	0.1773:0.1061:0.0:0.7166	.	53;139	F5H839;Q8NFR7	.;CC148_HUMAN	C	139;148;53;139	ENSP00000283233:Y139C;ENSP00000386674:Y148C;ENSP00000443740:Y53C;ENSP00000386583:Y139C	ENSP00000283233:Y139C	Y	-	2	0	CCDC148	158905070	0.945000	0.32115	0.479000	0.27329	0.971000	0.66376	0.715000	0.25822	0.809000	0.34255	0.533000	0.62120	TAC		0.353	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1		NM_138803	
CASP10	843	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	202082403	202082403	+	Intron	SNP	C	C	A			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr2:202082403C>A	ENST00000272879.5	+	9	1599				CASP10_ENST00000313728.7_Missense_Mutation_p.P436H|CASP10_ENST00000448480.1_Intron|CASP10_ENST00000286186.6_Missense_Mutation_p.P503H|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000346817.5_Missense_Mutation_p.P460H	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)	p.P503H(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						ATGCCCCAGCCTGCTTTCACA	0.438																																																	1	Substitution - Missense(1)	kidney(1)											161.0	145.0	150.0					2																	202082403		2203	4300	6503	SO:0001627	intron_variant	843			U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"""Caspases"""	1500	protein-coding gene	gene with protein product		601762	"""caspase 10, apoptosis-related cysteine protease"""			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.1415+8118C>A	2.37:g.202082403C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Missense_Mutation	SNP	ENST00000272879.5	37	CCDS2338.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259606	0.80246	.	.	ENSG00000003400	ENST00000286186;ENST00000346817;ENST00000313728	T;T;T	0.20738	2.05;2.05;2.05	5.3	5.3	0.74995	.	0.106321	0.64402	D	0.000003	T	0.45438	0.1342	.	.	.	0.80722	D	1	P;D;D	0.76494	0.875;0.984;0.999	P;P;D	0.70716	0.8;0.902;0.97	T	0.18493	-1.0335	9	0.32370	T	0.25	.	18.9644	0.92689	0.0:1.0:0.0:0.0	.	436;460;503	Q92851-6;Q92851-2;Q92851-4	.;.;.	H	503;460;436	ENSP00000286186:P503H;ENSP00000237865:P460H;ENSP00000314599:P436H	ENSP00000286186:P503H	P	+	2	0	CASP10	201790648	0.985000	0.35326	0.906000	0.35671	0.922000	0.55478	4.219000	0.58561	2.473000	0.83533	0.655000	0.94253	CCT		0.438	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1		NM_032977	
CD209	30835	broad.mit.edu;hgsc.bcm.edu	37	19	7809904	7809904	+	Silent	SNP	G	G	T	rs562144201	byFrequency	TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr19:7809904G>T	ENST00000315599.7	-	5	845	c.823C>A	c.(823-825)Cgg>Agg	p.R275R	CD209_ENST00000204801.8_Silent_p.R231R|CD209_ENST00000593821.1_Silent_p.R139R|CD209_ENST00000593660.1_Silent_p.R205R|CD209_ENST00000301357.8_Silent_p.R139R|CD209_ENST00000601951.1_Silent_p.R251R|CD209_ENST00000601256.1_Silent_p.R251R|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Silent_p.R114R|CD209_ENST00000602261.1_Silent_p.R183R|CD209_ENST00000354397.6_Silent_p.R275R|CD209_ENST00000315591.8_Silent_p.R251R	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	275	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.R275R(2)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGCCAGTTCCGCTGGGAGTTA	0.587																																																	2	Substitution - coding silent(2)	kidney(2)											97.0	91.0	93.0					19																	7809904		2203	4300	6503	SO:0001819	synonymous_variant	30835			M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.823C>A	19.37:g.7809904G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Silent	SNP	ENST00000315599.7	37	CCDS12186.1																																																																																				0.587	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1		NM_021155	
CORIN	10699	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	47788855	47788855	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr4:47788855G>T	ENST00000273857.4	-	3	295	c.296C>A	c.(295-297)aCa>aAa	p.T99K	CORIN_ENST00000505909.1_Missense_Mutation_p.T99K|CORIN_ENST00000508498.1_5'UTR|CORIN_ENST00000502252.1_Intron|CORIN_ENST00000504584.1_Missense_Mutation_p.T99K	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	99					female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.T99K(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AATTGTATTTGTAAGAATAAC	0.433																																																	1	Substitution - Missense(1)	kidney(1)											101.0	93.0	96.0					4																	47788855		2203	4300	6503	SO:0001583	missense	10699			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.296C>A	4.37:g.47788855G>T	ENSP00000273857:p.Thr99Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	G	8.238	0.806162	0.16467	.	.	ENSG00000145244	ENST00000273857;ENST00000505909;ENST00000504584	D;D;D	0.92348	-2.57;-2.42;-3.02	4.66	0.383	0.16239	.	0.846097	0.10410	N	0.678095	D	0.82430	0.5035	N	0.19112	0.55	0.09310	N	1	B;B;B	0.20671	0.001;0.019;0.047	B;B;B	0.14023	0.004;0.009;0.01	T	0.68682	-0.5344	10	0.39692	T	0.17	.	4.0335	0.09719	0.2579:0.3791:0.363:0.0	.	99;99;99	B7Z4R1;B4E2W9;Q9Y5Q5	.;.;CORIN_HUMAN	K	99	ENSP00000273857:T99K;ENSP00000425401:T99K;ENSP00000423216:T99K	ENSP00000273857:T99K	T	-	2	0	CORIN	47483612	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.195000	0.09546	-0.051000	0.13334	-0.253000	0.11424	ACA		0.433	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			
CRELD2	79174	hgsc.bcm.edu	37	22	50315936	50315973	+	Intron	DEL	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	-	rs377640443|rs562885075|rs542695980|rs113299196|rs7410276|rs12160965|rs371945800|rs386822607|rs386822606|rs564615833|rs368043307|rs71805922|rs386822608|rs73891177|rs553609580	byFrequency	TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr22:50315936_50315973delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	ENST00000328268.4	+	6	666				CRELD2_ENST00000444954.1_Intron|CRELD2_ENST00000407217.3_Intron|CRELD2_ENST00000403427.3_Intron|CRELD2_ENST00000404488.3_Splice_Site_p.PQQSGPASPI198fs	NM_024324.3	NP_077300.3	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2							endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		TTCTTACGCCCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCGCCTTGCTGTC	0.622																																																	0									,	660,2750		176,308,1221					,	-1.2	0.0		dbSNP_130	26	366,6880		58,250,3315	no	intron,frameshift-near-splice	CRELD2	NM_024324.3,NM_001135101.1	,	234,558,4536	A1A1,A1R,RR		5.0511,19.3548,9.6284	,	,		1026,9630				SO:0001627	intron_variant	79174			BC050675	CCDS14082.1, CCDS46730.1, CCDS63515.1, CCDS63516.1	22q13.33	2005-12-08			ENSG00000184164	ENSG00000184164			28150	protein-coding gene	gene with protein product		607171				12137942	Standard	XM_005261737		Approved	MGC11256	uc010hal.2	Q6UXH1	OTTHUMG00000150292	ENST00000328268.4:c.593-287CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG>-	22.37:g.50315936_50315973delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG		Somatic		WXS	Illumina HiSeq	Phase_I	A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47	Frame_Shift_Del	DEL	ENST00000328268.4	37	CCDS14082.1																																																																																				0.622	CRELD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317409.1		NM_024324	
DDX20	11218	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	112309100	112309100	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr1:112309100C>A	ENST00000369702.4	+	11	2674	c.2054C>A	c.(2053-2055)tCt>tAt	p.S685Y	DDX20_ENST00000475700.1_Missense_Mutation_p.S293Y	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	685					ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)	p.S685Y(1)		endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGAAAGACTCTGAATCTACG	0.433																																																	1	Substitution - Missense(1)	kidney(1)											77.0	81.0	79.0					1																	112309100		2203	4300	6503	SO:0001583	missense	11218			AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"""DEAD-boxes"""	2743	protein-coding gene	gene with protein product		606168	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"""			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.2054C>A	1.37:g.112309100C>A	ENSP00000358716:p.Ser685Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	ENST00000369702.4	37	CCDS842.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805332	0.31961	.	.	ENSG00000064703	ENST00000369702;ENST00000475700	T;T	0.35421	1.31;1.84	5.52	1.37	0.22104	.	3.065640	0.00589	N	0.000346	T	0.22820	0.0551	L	0.54323	1.7	0.09310	N	1	P;P	0.44946	0.846;0.761	P;B	0.48141	0.568;0.275	T	0.04930	-1.0917	9	.	.	.	-0.0867	3.1756	0.06567	0.1218:0.5464:0.1187:0.2131	.	293;685	E9PJ60;Q9UHI6	.;DDX20_HUMAN	Y	685;293	ENSP00000358716:S685Y;ENSP00000435660:S293Y	.	S	+	2	0	DDX20	112110623	0.000000	0.05858	0.001000	0.08648	0.259000	0.26198	-0.193000	0.09573	0.818000	0.34468	0.655000	0.94253	TCT		0.433	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2		NM_007204	
DDX3Y	8653	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	Y	15024911	15024911	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chrY:15024911T>A	ENST00000336079.3	+	6	580	c.474T>A	c.(472-474)ttT>ttA	p.F158L	DDX3Y_ENST00000360160.4_Missense_Mutation_p.F158L	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	158						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.F158L(1)		kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						GGATTAACTTTGAGAAATATG	0.313																																																	1	Substitution - Missense(1)	kidney(1)											68.0	76.0	74.0					Y																	15024911		590	1929	2519	SO:0001583	missense	8653			AF000984	CCDS14782.1	Yq11	2013-07-16	2013-07-16	2003-06-20	ENSG00000067048	ENSG00000067048		"""DEAD-boxes"""	2699	protein-coding gene	gene with protein product		400010	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked"""	DBY		9381176	Standard	NM_004660		Approved		uc004fsv.2	O15523	OTTHUMG00000036324	ENST00000336079.3:c.474T>A	Y.37:g.15024911T>A	ENSP00000336725:p.Phe158Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B4DK29|B4DXX7|Q8IYV7	Missense_Mutation	SNP	ENST00000336079.3	37	CCDS14782.1																																																																																				0.313	DDX3Y-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088407.1		NM_004660	
DNAJC14	85406	hgsc.bcm.edu;ucsc.edu	37	12	56221492	56221492	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr12:56221492delT	ENST00000357606.3	-	3	1240	c.951delA	c.(949-951)gtafs	p.V317fs	TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317287.5_Frame_Shift_Del_p.V317fs|RP11-762I7.5_ENST00000546837.1_5'Flank|DNAJC14_ENST00000317269.3_Frame_Shift_Del_p.V317fs			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	317					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TAAACAGTCCTACTCCACAGT	0.532																																																	0													85.0	78.0	81.0					12																	56221492		2203	4300	6503	SO:0001589	frameshift_variant	85406			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.951delA	12.37:g.56221492delT	ENSP00000350223:p.Val317fs	Somatic		WXS	Illumina HiSeq	Phase_I	A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Frame_Shift_Del	DEL	ENST00000357606.3	37	CCDS8894.1																																																																																				0.532	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1		NM_032364	
DSP	1832	broad.mit.edu;hgsc.bcm.edu	37	6	7583787	7583787	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr6:7583787G>T	ENST00000379802.3	+	24	6633	c.6292G>T	c.(6292-6294)Gat>Tat	p.D2098Y	DSP_ENST00000418664.2_Missense_Mutation_p.D1499Y	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2098	4.5 X 38 AA tandem repeats (Domain A).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.D2098Y(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGGTTTTGATGATCCATTTTC	0.453																																																	1	Substitution - Missense(1)	kidney(1)											113.0	118.0	116.0					6																	7583787		2203	4300	6503	SO:0001583	missense	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6292G>T	6.37:g.7583787G>T	ENSP00000369129:p.Asp2098Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214763	0.79352	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.74842	-0.88;-0.88	4.99	4.99	0.66335	.	0.000000	0.64402	D	0.000015	D	0.83271	0.5218	M	0.67700	2.07	0.43841	D	0.996424	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.85094	0.0953	10	0.87932	D	0	.	18.6316	0.91361	0.0:0.0:1.0:0.0	.	1546;2098	Q4LE79;P15924	.;DESP_HUMAN	Y	2098;1499	ENSP00000369129:D2098Y;ENSP00000396591:D1499Y	ENSP00000369129:D2098Y	D	+	1	0	DSP	7528786	1.000000	0.71417	0.978000	0.43139	0.979000	0.70002	9.813000	0.99286	2.489000	0.83994	0.655000	0.94253	GAT		0.453	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2		NM_004415	
DUSP27	92235	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	167097025	167097025	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr1:167097025A>T	ENST00000361200.2	+	6	2823	c.2657A>T	c.(2656-2658)gAt>gTt	p.D886V	DUSP27_ENST00000271385.5_Missense_Mutation_p.D886V|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.D886V			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	886					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.D886V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGTGATGGGGATGAGGACACT	0.498																																																	1	Substitution - Missense(1)	kidney(1)											113.0	94.0	100.0					1																	167097025		2203	4300	6503	SO:0001583	missense	92235			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2657A>T	1.37:g.167097025A>T	ENSP00000354483:p.Asp886Val	Somatic		WXS	Illumina HiSeq	Phase_I	A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	A	12.90	2.076636	0.36662	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03745	3.82;3.82;3.82	5.4	4.26	0.50523	.	0.136413	0.33813	N	0.004525	T	0.01730	0.0055	L	0.57536	1.79	0.58432	D	0.999998	B	0.34372	0.451	B	0.28139	0.086	T	0.46317	-0.9200	10	0.72032	D	0.01	-16.774	6.901	0.24283	0.7928:0.0:0.0725:0.1346	.	886	Q5VZP5	DUS27_HUMAN	V	886	ENSP00000354483:D886V;ENSP00000271385:D886V;ENSP00000404874:D886V	ENSP00000271385:D886V	D	+	2	0	DUSP27	165363649	1.000000	0.71417	0.661000	0.29709	0.550000	0.35303	3.487000	0.53222	0.842000	0.35045	0.523000	0.50628	GAT		0.498	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1		NM_001080426	
EMR4P	326342	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	6984836	6984836	+	RNA	SNP	G	G	A			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr19:6984836G>A	ENST00000600751.1	-	0	279					NR_024075.1		Q86SQ3	EMR4_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 4 pseudogene						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L78L(1)									CACTTTGCCAGCCCGGTTTCA	0.343																																																	1	Substitution - coding silent(1)	kidney(1)											68.0	63.0	64.0					19																	6984836		1842	4088	5930			326342			AY181245		19p13.2	2014-08-08	2008-06-06	2008-06-06	ENSG00000268758	ENSG00000268758		"""-"", ""GPCR / Class B : Orphans"""	19240	pseudogene	pseudogene		612305	"""G protein-coupled receptor 127"", ""egf-like module containing, mucin-like, hormone receptor-like 4"""	GPR127, EMR4		12565841	Standard	NR_024075		Approved	PGR16	uc010xjk.2	Q86SQ3	OTTHUMG00000177251		19.37:g.6984836G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q86SP1	RNA	SNP	ENST00000600751.1	37																																																																																					0.343	EMR4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000436007.1		NR_024075	
ESR1	2099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	152382174	152382174	+	Silent	SNP	G	G	T			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr6:152382174G>T	ENST00000206249.3	+	6	1646	c.1284G>T	c.(1282-1284)ctG>ctT	p.L428L	ESR1_ENST00000406599.1_Silent_p.L167L|ESR1_ENST00000427531.2_Silent_p.L255L|ESR1_ENST00000443427.1_Silent_p.L428L|ESR1_ENST00000456483.2_Silent_p.L316L|ESR1_ENST00000338799.5_Silent_p.L428L|ESR1_ENST00000440973.1_Silent_p.L428L	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	428	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L428L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	TCGACATGCTGCTGGCTACAT	0.378																																																	1	Substitution - coding silent(1)	kidney(1)											108.0	98.0	102.0					6																	152382174		2203	4300	6503	SO:0001819	synonymous_variant	2099			X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1284G>T	6.37:g.152382174G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Silent	SNP	ENST00000206249.3	37	CCDS5234.1	.	.	.	.	.	.	.	.	.	.	G	9.079	0.998820	0.19121	.	.	ENSG00000091831	ENST00000427531	.	.	.	5.38	2.49	0.30216	.	.	.	.	.	T	0.41627	0.1167	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29731	-1.0002	4	.	.	.	.	7.6225	0.28193	0.2047:0.119:0.6763:0.0	.	.	.	.	F	333	.	.	C	+	2	0	ESR1	152423867	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	1.664000	0.37439	0.662000	0.31006	-0.122000	0.15005	TGC		0.378	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			
RMDN2	151393	hgsc.bcm.edu	37	2	38179040	38179040	+	Intron	SNP	C	C	T	rs539510009	byFrequency	TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr2:38179040C>T	ENST00000406384.1	+	3	646				RMDN2_ENST00000402091.3_Nonsense_Mutation_p.Q228*|RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000407257.1_Nonsense_Mutation_p.Q228*|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000234195.3_Nonsense_Mutation_p.Q228*	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											TCCCGATCAACAAAATGGAAT	0.393																																																	0													128.0	129.0	128.0					2																	38179040		2203	4299	6502	SO:0001627	intron_variant	0			AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"""family with sequence similarity 82, member A1"""	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.453-22143C>T	2.37:g.38179040C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Nonsense_Mutation	SNP	ENST00000406384.1	37	CCDS54351.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276318	0.59649	.	.	ENSG00000115841	ENST00000407257;ENST00000234195;ENST00000402091	.	.	.	3.9	-0.167	0.13347	.	1.318210	0.05399	N	0.540362	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-13.8879	1.2957	0.02069	0.3285:0.3131:0.2366:0.1218	.	.	.	.	X	228	.	ENSP00000234195:Q228X	Q	+	1	0	FAM82A1	38032544	0.000000	0.05858	0.001000	0.08648	0.189000	0.23516	-0.575000	0.05861	0.063000	0.16370	0.655000	0.94253	CAA		0.393	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1		NM_144713	
FMN1	342184	hgsc.bcm.edu;ucsc.edu	37	15	33261665	33261668	+	Frame_Shift_Del	DEL	AGTT	AGTT	-			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	AGTT	AGTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr15:33261665_33261668delAGTT	ENST00000559047.1	-	5	2233_2236	c.2234_2237delAACT	c.(2233-2238)gaacttfs	p.EL745fs	FMN1_ENST00000561249.1_Frame_Shift_Del_p.EL647fs|SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000334528.9_Frame_Shift_Del_p.EL522fs			Q68DA7	FMN1_HUMAN	formin 1	745	Mediates interaction with alpha-catenin. {ECO:0000250}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		AAATGCCCGAAGTTCAAACTGTGC	0.397																																																	0																																										SO:0001589	frameshift_variant	342184			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2234_2237delAACT	15.37:g.33261665_33261668delAGTT	ENSP00000454047:p.Glu745fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q3B7I6|Q3ZAR4|Q6ZSY1	Frame_Shift_Del	DEL	ENST00000559047.1	37																																																																																					0.397	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1		NM_001103184	
GBP7	388646	hgsc.bcm.edu;ucsc.edu	37	1	89615167	89615168	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr1:89615167_89615168delCT	ENST00000294671.2	-	7	1097_1098	c.959_960delAG	c.(958-960)cagfs	p.Q320fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	320						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.Q320L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		AGTTCTCACACTGGGCCAGAAC	0.574																																																	1	Substitution - Missense(1)	lung(1)																																								SO:0001589	frameshift_variant	388646			AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.959_960delAG	1.37:g.89615167_89615168delCT	ENSP00000294671:p.Gln320fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000294671.2	37	CCDS720.1																																																																																				0.574	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1		NM_207398	
GLB1L3	112937	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	134188593	134188593	+	Silent	SNP	G	G	A			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr11:134188593G>A	ENST00000431683.2	+	19	1848	c.1848G>A	c.(1846-1848)caG>caA	p.Q616Q		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	616					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)	p.Q616Q(1)|p.Q277Q(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TTGGGCCTCAGAAAACACTGT	0.413																																																	2	Substitution - coding silent(2)	kidney(2)											137.0	126.0	129.0					11																	134188593		1918	4118	6036	SO:0001819	synonymous_variant	112937				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1848G>A	11.37:g.134188593G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NEM0|A6NN15|Q6P3S3|Q96FF8	Silent	SNP	ENST00000431683.2	37	CCDS44780.1																																																																																				0.413	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1		NM_138416	
GREB1	9687	broad.mit.edu;ucsc.edu	37	2	11738892	11738892	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr2:11738892C>A	ENST00000381486.2	+	15	2539	c.2239C>A	c.(2239-2241)Cag>Aag	p.Q747K	GREB1_ENST00000234142.5_Missense_Mutation_p.Q747K	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	747						integral component of membrane (GO:0016021)		p.Q747K(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CACGGAGGCACAGACAAAATT	0.468																																					Ovarian(39;850 945 2785 23371 33093)												1	Substitution - Missense(1)	kidney(1)											190.0	191.0	191.0					2																	11738892		1953	4155	6108	SO:0001583	missense	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.2239C>A	2.37:g.11738892C>A	ENSP00000370896:p.Gln747Lys	Somatic		WXS	Illumina GAIIx	Phase_I	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	8.239	0.806497	0.16467	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000432985	T;T;T	0.46063	3.2;3.2;0.88	5.16	4.28	0.50868	.	0.077265	0.53938	D	0.000044	T	0.41581	0.1165	M	0.64404	1.975	0.20926	N	0.999824	B;B	0.17667	0.013;0.023	B;B	0.12156	0.007;0.007	T	0.27806	-1.0063	10	0.31617	T	0.26	-34.3521	15.0228	0.71643	0.1435:0.8565:0.0:0.0	.	381;747	C9JIG0;Q4ZG55	.;GREB1_HUMAN	K	747;747;381	ENSP00000370896:Q747K;ENSP00000234142:Q747K;ENSP00000403886:Q381K	ENSP00000234142:Q747K	Q	+	1	0	GREB1	11656343	1.000000	0.71417	0.011000	0.14972	0.113000	0.19764	5.475000	0.66787	1.159000	0.42565	-0.182000	0.12963	CAG		0.468	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1		NM_014668	
GRM1	2911	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	146720336	146720336	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr6:146720336G>T	ENST00000282753.1	+	7	2396	c.2161G>T	c.(2161-2163)Gtg>Ttg	p.V721L	GRM1_ENST00000507907.1_Missense_Mutation_p.V721L|GRM1_ENST00000361719.2_Missense_Mutation_p.V721L|GRM1_ENST00000355289.4_Missense_Mutation_p.V721L|GRM1_ENST00000392299.2_Missense_Mutation_p.V721L|GRM1_ENST00000492807.2_Missense_Mutation_p.V721L			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	721					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.V721L(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		ACTAACCCTGGTGGTAACCCT	0.507																																																	2	Substitution - Missense(2)	kidney(2)											116.0	111.0	113.0					6																	146720336		2203	4300	6503	SO:0001583	missense	2911			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2161G>T	6.37:g.146720336G>T	ENSP00000282753:p.Val721Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457723	0.63401	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2;-2.2	5.51	5.51	0.81932	GPCR, family 3, C-terminal (2);	0.051742	0.85682	D	0.000000	T	0.81814	0.4902	L	0.39085	1.19	0.58432	D	0.999997	B;P;B	0.39576	0.364;0.679;0.171	B;B;B	0.42522	0.087;0.39;0.087	D	0.84403	0.0561	10	0.62326	D	0.03	.	19.4081	0.94656	0.0:0.0:1.0:0.0	.	721;721;721	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	L	721	ENSP00000354896:V721L;ENSP00000376119:V721L;ENSP00000424095:V721L;ENSP00000282753:V721L;ENSP00000347437:V721L;ENSP00000425599:V721L	ENSP00000282753:V721L	V	+	1	0	GRM1	146762029	1.000000	0.71417	0.999000	0.59377	0.905000	0.53344	9.869000	0.99810	2.604000	0.88044	0.585000	0.79938	GTG		0.507	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1		NM_000838	
INO80D	54891	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	206870035	206870035	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr2:206870035C>G	ENST00000403263.1	-	11	2545	c.2141G>C	c.(2140-2142)gGg>gCg	p.G714A	Vault_ENST00000516676.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	714					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.G714A(1)|p.G609A(1)		NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CAATAGCTCCCCTAGGTCTGT	0.488																																																	2	Substitution - Missense(2)	kidney(2)											110.0	103.0	105.0					2																	206870035		1917	4133	6050	SO:0001583	missense	54891				CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.2141G>C	2.37:g.206870035C>G	ENSP00000384198:p.Gly714Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	C	4.378	0.069761	0.08436	.	.	ENSG00000114933	ENST00000403263;ENST00000233270	T	0.37752	1.18	5.81	4.93	0.64822	.	0.110120	0.64402	D	0.000009	T	0.21718	0.0523	N	0.14661	0.345	0.53688	D	0.999972	B	0.16603	0.018	B	0.20184	0.028	T	0.09662	-1.0664	10	0.02654	T	1	.	16.9094	0.86137	0.0:0.8719:0.1281:0.0	.	714	Q53TQ3-2	.	A	714	ENSP00000384198:G714A	ENSP00000233270:G714A	G	-	2	0	INO80D	206578280	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	4.344000	0.59354	1.442000	0.47568	-0.274000	0.10170	GGG		0.488	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1		NM_017759	
ITIH5	80760	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	7683956	7683956	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr10:7683956G>A	ENST00000256861.6	-	3	311	c.233C>T	c.(232-234)tCt>tTt	p.S78F	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000434980.1_5'Flank|ITIH5_ENST00000397146.2_Missense_Mutation_p.S78F|ITIH5_ENST00000397145.2_Missense_Mutation_p.S78F	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	78	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S78F(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTGGTCTTCAGAAGCTCTGTT	0.453																																																	2	Substitution - Missense(2)	kidney(2)											159.0	136.0	144.0					10																	7683956		2203	4300	6503	SO:0001583	missense	80760					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.233C>T	10.37:g.7683956G>A	ENSP00000256861:p.Ser78Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37		.	.	.	.	.	.	.	.	.	.	G	15.47	2.841833	0.51057	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	T;T;T	0.24350	1.86;1.86;1.86	5.71	5.71	0.89125	Vault protein inter-alpha-trypsin (2);	0.328417	0.37955	N	0.001873	T	0.55545	0.1927	.	.	.	0.48341	D	0.99963	D;D	0.89917	0.999;1.0	D;D	0.81914	0.946;0.995	T	0.57051	-0.7877	9	0.66056	D	0.02	-20.1524	19.8445	0.96703	0.0:0.0:1.0:0.0	.	78;78	G5E9D8;Q86UX2	.;ITIH5_HUMAN	F	78	ENSP00000256861:S78F;ENSP00000380333:S78F;ENSP00000380332:S78F	ENSP00000256861:S78F	S	-	2	0	ITIH5	7723962	1.000000	0.71417	0.980000	0.43619	0.017000	0.09413	5.277000	0.65586	2.695000	0.91970	0.462000	0.41574	TCT		0.453	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1		NM_030569	
LRRC52	440699	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	165513950	165513950	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr1:165513950A>T	ENST00000294818.1	+	1	707	c.417A>T	c.(415-417)ttA>ttT	p.L139F	RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	139					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L139F(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CTCACCTGTTATCGCTTCACA	0.522																																																	1	Substitution - Missense(1)	kidney(1)											221.0	202.0	209.0					1																	165513950		2203	4300	6503	SO:0001583	missense	440699			AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.417A>T	1.37:g.165513950A>T	ENSP00000294818:p.Leu139Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A2RUN7|Q5T9K5	Missense_Mutation	SNP	ENST00000294818.1	37	CCDS30930.1	.	.	.	.	.	.	.	.	.	.	A	4.588	0.109307	0.08780	.	.	ENSG00000162763	ENST00000294818	T	0.02498	4.27	5.5	-11.0	0.00169	.	2.470450	0.01240	N	0.008592	T	0.00580	0.0019	N	0.20445	0.575	0.32951	D	0.519719	B	0.06786	0.001	B	0.09377	0.004	T	0.37033	-0.9723	9	0.19147	T	0.46	.	12.1821	0.54218	0.1886:0.5184:0.2929:0.0	.	139	Q8N7C0	LRC52_HUMAN	F	139	ENSP00000294818:L139F	ENSP00000294818:L139F	L	+	3	2	LRRC52	163780574	0.000000	0.05858	0.000000	0.03702	0.869000	0.49853	-0.658000	0.05329	-2.599000	0.00452	-0.445000	0.05633	TTA		0.522	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1		NM_001005214	
MED1	5469	hgsc.bcm.edu;ucsc.edu	37	17	37580984	37580984	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr17:37580984delT	ENST00000394287.3	-	11	952	c.747delA	c.(745-747)cgafs	p.R249fs	MED1_ENST00000300651.6_Frame_Shift_Del_p.R249fs			O95243	MBD4_HUMAN	mediator complex subunit 1	406					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGCCCAAAGATCGAGAAACTG	0.368										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0													127.0	119.0	122.0					17																	37580984		2203	4300	6503	SO:0001589	frameshift_variant	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.747delA	17.37:g.37580984delT	ENSP00000377828:p.Arg249fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Frame_Shift_Del	DEL	ENST00000394287.3	37																																																																																					0.368	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000256944.1		NM_004774	
TRIM46	80128	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155160211	155160211	+	IGR	SNP	G	G	T			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr1:155160211G>T	ENST00000334634.4	+	0	3061				MUC1_ENST00000368390.3_Silent_p.I136I|MUC1_ENST00000337604.5_Silent_p.I154I|MUC1_ENST00000368392.3_Silent_p.I145I|MUC1_ENST00000368393.3_Silent_p.I154I|RP11-201K10.3_ENST00000473363.2_5'Flank|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000368395.1_Silent_p.I356I|MUC1_ENST00000457295.2_Silent_p.I145I|MUC1_ENST00000368398.3_Silent_p.I111I|MUC1_ENST00000338684.5_Silent_p.I105I|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000438413.1_Silent_p.I110I|MUC1_ENST00000343256.5_Intron	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46							intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.I356I(1)|p.I145I(1)|p.I154I(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGACGTCTGAGATCGTCAGGT	0.562																																																	3	Substitution - coding silent(3)	kidney(3)											51.0	47.0	49.0					1																	155160211		2198	4298	6496	SO:0001628	intergenic_variant	4582				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680		1.37:g.155160211G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Silent	SNP	ENST00000334634.4	37	CCDS1097.1																																																																																				0.562	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1		NM_025058	
NEFH	4744	hgsc.bcm.edu	37	22	29885586	29885587	+	In_Frame_Ins	INS	-	-	AGTCCCCTGAGAAGGCCA	rs200984527|rs267607533		TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr22:29885586_29885587insAGTCCCCTGAGAAGGCCA	ENST00000310624.6	+	4	1990_1991	c.1957_1958insAGTCCCCTGAGAAGGCCA	c.(1957-1959)aag>aAGTCCCCTGAGAAGGCCAag	p.653_653K>KSPEKAK		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	659	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TGAGAAGGCCAAGTCCCCAGAG	0.564																																																	0																																										SO:0001652	inframe_insertion	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1940_1957dupAGTCCCCTGAGAAGGCCA	22.37:g.29885586_29885587insAGTCCCCTGAGAAGGCCA	ENSP00000311997:p.SerProGluLysAlaLys653dup	Somatic		WXS	Illumina HiSeq	Phase_I	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	37	CCDS13858.1																																																																																				0.564	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2		NM_021076	
NLRP2	55655	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	55489152	55489152	+	Missense_Mutation	SNP	G	G	A	rs368936931		TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr19:55489152G>A	ENST00000543010.1	+	4	501	c.358G>A	c.(358-360)Gtg>Atg	p.V120M	NLRP2_ENST00000537859.1_Missense_Mutation_p.V120M|NLRP2_ENST00000427260.2_Missense_Mutation_p.V97M|NLRP2_ENST00000339757.7_Missense_Mutation_p.V120M|NLRP2_ENST00000391721.4_Intron|NLRP2_ENST00000263437.6_Missense_Mutation_p.V120M|NLRP2_ENST00000448584.2_Missense_Mutation_p.V120M|NLRP2_ENST00000538819.1_Intron	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	120					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)	p.V120M(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACCTCTAGACGTGGACGAAAT	0.542																																																	1	Substitution - Missense(1)	kidney(1)						G	MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	130.0	106.0	115.0		358,358,289,358	-2.7	0.0	19		115	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	NLRP2	NM_001174081.1,NM_001174082.1,NM_001174083.1,NM_017852.3	21,21,21,21	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	120/1063,120/1041,97/1040,120/1063	55489152	2,13004	2203	4300	6503	SO:0001583	missense	55655			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.358G>A	19.37:g.55489152G>A	ENSP00000445135:p.Val120Met	Somatic		WXS	Illumina HiSeq	Phase_I	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	G	0.496	-0.873145	0.02570	0.0	2.33E-4	ENSG00000022556	ENST00000433772;ENST00000543010;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000263437;ENST00000397169	T;T;T;T;T;T;T;T	0.76448	-0.26;-0.84;-0.77;-0.84;-0.77;-1.02;-0.8;-0.45	1.32	-2.65	0.06095	.	.	.	.	.	T	0.48095	0.1481	N	0.14661	0.345	0.09310	N	1	B;P;P;B	0.39717	0.023;0.648;0.684;0.04	B;B;B;B	0.26969	0.003;0.075;0.008;0.003	T	0.37407	-0.9707	9	0.40728	T	0.16	.	1.4978	0.02470	0.1655:0.3792:0.2852:0.1702	.	97;120;120;120	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02	.;.;.;NALP2_HUMAN	M	120;120;120;120;120;97;120;52	ENSP00000443519:V120M;ENSP00000445135:V120M;ENSP00000344074:V120M;ENSP00000409370:V120M;ENSP00000440601:V120M;ENSP00000402474:V97M;ENSP00000263437:V120M;ENSP00000441363:V52M	ENSP00000263437:V120M	V	+	1	0	NLRP2	60180964	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.559000	0.02162	-1.913000	0.01079	-0.467000	0.05162	GTG		0.542	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1		NM_017852	
NSUN2	54888	hgsc.bcm.edu;ucsc.edu	37	5	6620322	6620322	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr5:6620322delC	ENST00000264670.6	-	7	1023	c.712delG	c.(712-714)gtgfs	p.V239fs	NSUN2_ENST00000505264.1_5'UTR|NSUN2_ENST00000506139.1_Frame_Shift_Del_p.V204fs|NSUN2_ENST00000539938.1_Frame_Shift_Del_p.V3fs	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	239					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TGGTTGACCACCATGATGCAG	0.507																																																	0													103.0	102.0	103.0					5																	6620322		2203	4300	6503	SO:0001589	frameshift_variant	54888			AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.712delG	5.37:g.6620322delC	ENSP00000264670:p.Val239fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Frame_Shift_Del	DEL	ENST00000264670.6	37	CCDS3869.1																																																																																				0.507	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1		NM_017755	
OR4C12	283093	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	50003264	50003264	+	Silent	SNP	G	G	T			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr11:50003264G>T	ENST00000335238.4	-	1	807	c.774C>A	c.(772-774)cgC>cgA	p.R258R		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R258R(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TGGTCACTGAGCGCAGATACA	0.438																																																	1	Substitution - coding silent(1)	kidney(1)											73.0	67.0	69.0					11																	50003264		2201	4296	6497	SO:0001819	synonymous_variant	283093			BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.774C>A	11.37:g.50003264G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RNF0|Q6IF49	Silent	SNP	ENST00000335238.4	37	CCDS31496.1																																																																																				0.438	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1		NM_001005270	
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52620517	52620518	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr3:52620517_52620518insC	ENST00000296302.7	-	20	3311_3312	c.3310_3311insG	c.(3310-3312)gcafs	p.A1104fs	PBRM1_ENST00000394830.3_Frame_Shift_Ins_p.A1079fs|PBRM1_ENST00000337303.4_Frame_Shift_Ins_p.A1104fs|PBRM1_ENST00000410007.1_Frame_Shift_Ins_p.A1079fs|PBRM1_ENST00000409767.1_Frame_Shift_Ins_p.A1119fs|PBRM1_ENST00000356770.4_Frame_Shift_Ins_p.A1072fs|PBRM1_ENST00000409114.3_Frame_Shift_Ins_p.A1119fs|PBRM1_ENST00000409057.1_Frame_Shift_Ins_p.A1104fs			Q86U86	PB1_HUMAN	polybromo 1	1104					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)			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)		ACCTTTATCTGCATTTGCAAAT	0.45			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	0																																										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.3311dupG	3.37:g.52620518_52620518dupC	ENSP00000296302:p.Ala1104fs	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Ins	INS	ENST00000296302.7	37																																																																																					0.450	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PDDC1	347862	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	771046	771046	+	Silent	SNP	A	A	G			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr11:771046A>G	ENST00000319863.8	-	7	624	c.603T>C	c.(601-603)aaT>aaC	p.N201N	PDDC1_ENST00000526325.1_Intron|PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000442059.2_Silent_p.N151N|PDDC1_ENST00000397472.2_Intron|PDDC1_ENST00000524550.1_Silent_p.N165N	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	201						extracellular vesicular exosome (GO:0070062)		p.N201N(1)		kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGAGCTGGCATTCTGGCCTG	0.652																																																	1	Substitution - coding silent(1)	kidney(1)											54.0	53.0	53.0					11																	771046		2201	4300	6501	SO:0001819	synonymous_variant	347862			AK128653	CCDS7713.1	11p15.5	2005-10-26			ENSG00000177225	ENSG00000177225			26616	protein-coding gene	gene with protein product							Standard	XM_005252898		Approved	FLJ34283	uc001lrc.3	Q8NB37	OTTHUMG00000133315	ENST00000319863.8:c.603T>C	11.37:g.771046A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B7ZKW5|Q2NL76|Q6ZQY0|Q8NAE0	Silent	SNP	ENST00000319863.8	37	CCDS7713.1	.	.	.	.	.	.	.	.	.	.	A	7.344	0.621412	0.14193	.	.	ENSG00000177225	ENST00000465313	.	.	.	4.55	-2.46	0.06461	.	.	.	.	.	T	0.57272	0.2042	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55341	-0.8156	4	.	.	.	.	11.3867	0.49789	0.6674:0.0:0.3326:0.0	.	.	.	.	R	52	.	.	C	-	1	0	PDDC1	761046	0.261000	0.24063	0.899000	0.35326	0.590000	0.36582	-0.522000	0.06237	-0.424000	0.07382	-0.464000	0.05259	TGC		0.652	PDDC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258051.2		NM_182612	
PHACTR4	65979	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	28764918	28764918	+	Intron	SNP	G	G	T			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr1:28764918G>T	ENST00000373839.3	+	3	277				PHACTR4_ENST00000493669.1_Intron|PHACTR4_ENST00000373836.3_Missense_Mutation_p.R8I	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4						actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.R8I(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		GATGTCTCCAGACCGGTAAAT	0.393																																																	1	Substitution - Missense(1)	kidney(1)											108.0	100.0	103.0					1																	28764918		1884	4106	5990	SO:0001627	intron_variant	65979			AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.17-20678G>T	1.37:g.28764918G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	37	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039866	0.55003	.	.	ENSG00000204138	ENST00000373836	T	0.25250	1.81	5.41	5.41	0.78517	.	0.000000	0.45361	D	0.000362	T	0.42743	0.1216	.	.	.	0.48341	D	0.999632	D	0.58620	0.983	P	0.56700	0.804	T	0.14924	-1.0455	9	0.41790	T	0.15	.	15.9137	0.79491	0.0:0.0:1.0:0.0	.	8	Q8IZ21-2	.	I	8	ENSP00000362942:R8I	ENSP00000362942:R8I	R	+	2	0	PHACTR4	28637505	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.761000	0.68801	2.533000	0.85409	0.563000	0.77884	AGA		0.393	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4		NM_023923	
PPP2CB	5516	broad.mit.edu;ucsc.edu	37	8	30651536	30651536	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr8:30651536G>T	ENST00000221138.4	-	5	1085	c.635C>A	c.(634-636)tCa>tAa	p.S212*	PPP2CB_ENST00000518564.1_Intron	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	212					apoptotic mitochondrial changes (GO:0008637)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of Ras protein signal transduction (GO:0046580)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|regulation of gene expression (GO:0010468)|response to antibiotic (GO:0046677)|response to endoplasmic reticulum stress (GO:0034976)|response to hydrogen peroxide (GO:0042542)	chromosome, centromeric region (GO:0000775)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.S212*(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	ACCACGTGGTGAAATACCCCA	0.443																																																	1	Substitution - Nonsense(1)	kidney(1)											73.0	57.0	62.0					8																	30651536		2203	4300	6503	SO:0001587	stop_gained	5516				CCDS6079.1	8p12	2011-05-24	2010-03-05		ENSG00000104695	ENSG00000104695	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9300	protein-coding gene	gene with protein product	"""protein phosphatase 2A catalytic subunit, beta isoform"""	176916	"""protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform"""			8383590	Standard	NM_001009552		Approved	PP2Abeta	uc003xik.3	P62714	OTTHUMG00000163949	ENST00000221138.4:c.635C>A	8.37:g.30651536G>T	ENSP00000221138:p.Ser212*	Somatic		WXS	Illumina GAIIx	Phase_I	D3DSV4|P11082|Q6FHK5	Nonsense_Mutation	SNP	ENST00000221138.4	37	CCDS6079.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667755	0.88348	.	.	ENSG00000104695	ENST00000221138;ENST00000406655;ENST00000520334;ENST00000518243	.	.	.	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.1122	18.5681	0.91124	0.0:0.0:1.0:0.0	.	.	.	.	X	212;212;50;165	.	ENSP00000221138:S212X	S	-	2	0	PPP2CB	30771078	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.473000	0.97714	2.536000	0.85505	0.655000	0.94253	TCA		0.443	PPP2CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376527.2		NM_001009552	
PPP2R2D	55844	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	133748061	133748061	+	IGR	SNP	T	T	G			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr10:133748061T>G								AL450307.1 (125526 upstream) : PPP2R2D (5471 downstream)														p.?(1)									GAACAAGAGGTCAGTAATTTT	0.383																																																	1	Unknown(1)	kidney(1)											169.0	167.0	167.0					10																	133748061		1915	4115	6030	SO:0001628	intergenic_variant	55844																															10.37:g.133748061T>G		Somatic		WXS	Illumina HiSeq	Phase_I		Splice_Site	SNP		37		.	.	.	.	.	.	.	.	.	.	T	20.2	3.950590	0.73787	.	.	ENSG00000175470	ENST00000455566	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3797	0.66902	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPP2R2D	133598051	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.992000	0.76238	1.799000	0.52666	0.528000	0.53228	.	0	0.383									
PRICKLE4	29964	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	41752690	41752690	+	Silent	SNP	C	C	T			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr6:41752690C>T	ENST00000394260.1	+	2	138	c.138C>T	c.(136-138)gcC>gcT	p.A46A	PRICKLE4_ENST00000458694.1_Silent_p.A86A|PRICKLE4_ENST00000394259.1_Silent_p.A46A|PRICKLE4_ENST00000394263.1_Silent_p.A86A|TOMM6_ENST00000398884.3_5'Flank|PRICKLE4_ENST00000463606.1_3'UTR|TOMM6_ENST00000398881.3_5'Flank|PRICKLE4_ENST00000359201.5_Silent_p.A86A			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	46	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.A86A(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ACTGCCTGGCCCTTGGGGAGG	0.597																																																	2	Substitution - coding silent(2)	kidney(2)											58.0	66.0	63.0					6																	41752690		2203	4300	6503	SO:0001819	synonymous_variant	29964			AF216754	CCDS34449.1	6p21.1	2010-08-05	2007-09-18	2007-09-18	ENSG00000124593	ENSG00000124593			16805	protein-coding gene	gene with protein product		611389	"""chromosome 6 open reading frame 49"""	C6orf49		15702247	Standard	NM_013397		Approved	OEBT, DKFZp761H221	uc011duf.1	Q2TBC4	OTTHUMG00000014685	ENST00000394260.1:c.138C>T	6.37:g.41752690C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A2A3M0|A6PVU1|B3KQ15|Q5T3D4|Q9NSV1	Silent	SNP	ENST00000394260.1	37																																																																																					0.597	PRICKLE4-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000303948.1		NM_013397	
RASGEF1C	255426	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	179538533	179538533	+	Silent	SNP	T	T	C			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr5:179538533T>C	ENST00000393371.2	-	11	1523	c.1227A>G	c.(1225-1227)aaA>aaG	p.K409K	RASGEF1C_ENST00000522500.1_Silent_p.K258K|RASGEF1C_ENST00000361132.4_Silent_p.K409K			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	409	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.K409K(2)		breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTCCACTTGTTTCCAGGTGA	0.587																																																	2	Substitution - coding silent(2)	kidney(2)											159.0	108.0	125.0					5																	179538533		2203	4300	6503	SO:0001819	synonymous_variant	255426			AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.1227A>G	5.37:g.179538533T>C		Somatic		WXS	Illumina HiSeq	Phase_I	D3DWQ7|Q7Z4T0|Q8NA49	Silent	SNP	ENST00000393371.2	37	CCDS4452.1																																																																																				0.587	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2		NM_175062	
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47164730	47164730	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr3:47164730T>A	ENST00000409792.3	-	3	1438	c.1396A>T	c.(1396-1398)Aag>Tag	p.K466*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	466					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.K466*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TATGTCTTCTTATACTCTTCT	0.458			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	1	Substitution - Nonsense(1)	kidney(1)											252.0	197.0	213.0					3																	47164730		692	1591	2283	SO:0001587	stop_gained	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.1396A>T	3.37:g.47164730T>A	ENSP00000386759:p.Lys466*	Somatic		WXS	Illumina HiSeq	Phase_I	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	35	5.433099	0.96150	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7977	0.52110	0.0:0.0:0.1465:0.8535	.	.	.	.	X	466;466;466;422	.	.	K	-	1	0	SETD2	47139734	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.377000	0.44300	2.226000	0.72624	0.533000	0.62120	AAG		0.458	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159	
LLfos-48D6.1	0	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	2353056	2353056	+	RNA	SNP	C	C	G			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr19:2353056C>G	ENST00000609490.1	-	0	450				SPPL2B_ENST00000452401.2_RNA																							CCAGCCACATCCCCCTGGCCT	0.697																																																	0													24.0	34.0	31.0					19																	2353056		2003	4168	6171			56928																															19.37:g.2353056C>G		Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000609490.1	37																																																																																					0.697	LLfos-48D6.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000473157.1			
SYNE1	23345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	152473119	152473120	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	AC	AC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr6:152473119_152473120delAC	ENST00000367255.5	-	134	24887_24888	c.24286_24287delGT	c.(24286-24288)gtcfs	p.V8096fs	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Frame_Shift_Del_p.V8025fs|SYNE1_ENST00000356820.4_Frame_Shift_Del_p.V2620fs|SYNE1_ENST00000448038.1_Frame_Shift_Del_p.V8025fs|SYNE1_ENST00000354674.4_Frame_Shift_Del_p.V251fs|SYNE1_ENST00000539504.1_Frame_Shift_Del_p.V251fs|SYNE1_ENST00000265368.4_Frame_Shift_Del_p.V8096fs|SYNE1_ENST00000341594.5_Frame_Shift_Del_p.V7708fs	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8096					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GATGGAGGTGACACGCTTTTGC	0.525										HNSCC(10;0.0054)																																							0																																										SO:0001589	frameshift_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24286_24287delGT	6.37:g.152473121_152473122delAC	ENSP00000356224:p.Val8096fs	Somatic		WXS	Illumina HiSeq	Phase_I	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Frame_Shift_Del	DEL	ENST00000367255.5	37	CCDS5236.2																																																																																				0.525	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961	
TP53TG5	27296	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	44004124	44004124	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr20:44004124T>C	ENST00000372726.3	-	4	479	c.323A>G	c.(322-324)aAg>aGg	p.K108R	TP53TG5_ENST00000494455.1_5'UTR|SYS1_ENST00000426004.1_3'UTR|TP53TG5_ENST00000537995.1_Missense_Mutation_p.K92R|SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1-DBNDD2_ENST00000452133.1_Intron	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	108					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K108R(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						CTTGAGTTCCTTCTCGGAGCA	0.488																																																	1	Substitution - Missense(1)	kidney(1)											135.0	147.0	143.0					20																	44004124		2203	4300	6503	SO:0001583	missense	27296			AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 10"""	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.323A>G	20.37:g.44004124T>C	ENSP00000361811:p.Lys108Arg	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000372726.3	37	CCDS13352.1	.	.	.	.	.	.	.	.	.	.	T	10.02	1.236115	0.22626	.	.	ENSG00000124251	ENST00000372726;ENST00000537995	T;T	0.16073	2.37;2.37	5.01	2.68	0.31781	.	1.370420	0.04261	N	0.340400	T	0.17280	0.0415	L	0.34521	1.04	0.09310	N	1	P	0.42518	0.782	B	0.43508	0.422	T	0.19192	-1.0313	10	0.39692	T	0.17	-0.7488	5.7921	0.18367	0.1601:0.0:0.1922:0.6477	.	108	Q9Y2B4	T53G5_HUMAN	R	108;92	ENSP00000361811:K108R;ENSP00000438374:K92R	ENSP00000361811:K108R	K	-	2	0	TP53TG5	43437538	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	0.713000	0.25794	0.435000	0.26365	-0.331000	0.08364	AAG		0.488	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079460.1		NM_014477	
TRPM3	80036	hgsc.bcm.edu;ucsc.edu	37	9	73150983	73150984	+	Frame_Shift_Del	DEL	TC	TC	-	rs6560142	byFrequency	TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr9:73150983_73150984delTC	ENST00000377110.3	-	25	5252_5253	c.5009_5010delGA	c.(5008-5010)cgafs	p.R1670fs	TRPM3_ENST00000396292.4_Frame_Shift_Del_p.R1542fs|TRPM3_ENST00000377106.1_Frame_Shift_Del_p.R1542fs|TRPM3_ENST00000360823.2_Frame_Shift_Del_p.R1532fs|TRPM3_ENST00000358082.3_Frame_Shift_Del_p.R1532fs|TRPM3_ENST00000396280.5_Frame_Shift_Del_p.R1519fs|TRPM3_ENST00000408909.2_Frame_Shift_Del_p.R1529fs|TRPM3_ENST00000423814.3_Frame_Shift_Del_p.R1697fs|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000357533.2_Frame_Shift_Del_p.R1674fs|TRPM3_ENST00000396285.1_Frame_Shift_Del_p.R1529fs|TRPM3_ENST00000377105.1_Frame_Shift_Del_p.R1529fs			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1695					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GGAAGGGATTTCGCAGGCTTGC	0.559																																																	0																																										SO:0001589	frameshift_variant	80036			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.5009_5010delGA	9.37:g.73150983_73150984delTC	ENSP00000366314:p.Arg1670fs	Somatic		WXS	Illumina HiSeq	Phase_I	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Frame_Shift_Del	DEL	ENST00000377110.3	37	CCDS43835.1																																																																																				0.559	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3		NM_206945	
UBA5	79876	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	132387762	132387762	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr3:132387762A>G	ENST00000356232.4	+	4	1470	c.398A>G	c.(397-399)cAt>cGt	p.H133R	UBA5_ENST00000494238.2_Missense_Mutation_p.H77R|UBA5_ENST00000264991.4_Missense_Mutation_p.H77R|UBA5_ENST00000473651.1_Missense_Mutation_p.H133R|UBA5_ENST00000493720.2_Missense_Mutation_p.H133R	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	133					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)	p.H133R(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCAGCAGAACATACTCTGAGG	0.318																																																	1	Substitution - Missense(1)	kidney(1)											122.0	116.0	118.0					3																	132387762		2203	4298	6501	SO:0001583	missense	79876			AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"""Ubiquitin-like modifier activating enzymes"""	23230	protein-coding gene	gene with protein product	"""UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"""	610552	"""ubiquitin-activating enzyme E1-domain containing 1"""	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.398A>G	3.37:g.132387762A>G	ENSP00000348565:p.His133Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A6NJL3|D3DNC8|Q96ST1	Missense_Mutation	SNP	ENST00000356232.4	37	CCDS3076.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.029051	0.35797	.	.	ENSG00000081307	ENST00000264991;ENST00000356232;ENST00000493720;ENST00000468022;ENST00000473651;ENST00000494238;ENST00000464068;ENST00000489361	T;T;T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69	5.43	5.43	0.79202	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.086608	0.85682	D	0.000000	T	0.08846	0.0219	N	0.00583	-1.355	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.25117	-1.0141	10	0.25106	T	0.35	-9.15	15.4756	0.75478	1.0:0.0:0.0:0.0	.	133;133	E7EWE1;Q9GZZ9	.;UBA5_HUMAN	R	77;133;133;77;133;77;43;77	ENSP00000264991:H77R;ENSP00000348565:H133R;ENSP00000417879:H133R;ENSP00000418569:H77R;ENSP00000424984:H133R;ENSP00000418807:H77R;ENSP00000420055:H43R;ENSP00000417905:H77R	ENSP00000264991:H77R	H	+	2	0	UBA5	133870452	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.437000	0.80417	2.056000	0.61249	0.460000	0.39030	CAT		0.318	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357187.2		NM_024818	
UBR5	51366	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	103297526	103297526	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr8:103297526A>G	ENST00000520539.1	-	40	6131	c.5525T>C	c.(5524-5526)aTg>aCg	p.M1842T	UBR5_ENST00000521922.1_Missense_Mutation_p.M1836T|UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000220959.4_Missense_Mutation_p.M1842T	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1842					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.M1842T(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AATACTGACCATCCAGTTCCA	0.378																																					Ovarian(131;96 1741 5634 7352 27489)												1	Substitution - Missense(1)	kidney(1)											120.0	112.0	115.0					8																	103297526		2203	4300	6503	SO:0001583	missense	51366			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.5525T>C	8.37:g.103297526A>G	ENSP00000429084:p.Met1842Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.917605	0.52546	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.49139	0.79;0.79;0.79	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.56514	0.1990	L	0.42245	1.32	0.80722	D	1	P;P	0.40431	0.717;0.717	P;P	0.52189	0.692;0.692	T	0.59032	-0.7530	10	0.87932	D	0	.	16.0203	0.80478	1.0:0.0:0.0:0.0	.	1836;1842	E7EMW7;O95071	.;UBR5_HUMAN	T	1842;1842;1836	ENSP00000429084:M1842T;ENSP00000220959:M1842T;ENSP00000427819:M1836T	ENSP00000220959:M1842T	M	-	2	0	UBR5	103366702	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.335000	0.96500	2.177000	0.69029	0.460000	0.39030	ATG		0.378	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2		NM_015902	
UNKL	64718	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1417749	1417749	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr16:1417749T>C	ENST00000389221.4	-	13	1686	c.1687A>G	c.(1687-1689)Aac>Gac	p.N563D	UNKL_ENST00000391893.2_Missense_Mutation_p.N62D|UNKL_ENST00000403703.1_Missense_Mutation_p.N65D|UNKL_ENST00000397464.1_Missense_Mutation_p.N65D|UNKL_ENST00000508903.2_Missense_Mutation_p.N566D|UNKL_ENST00000248104.7_Missense_Mutation_p.N62D|UNKL_ENST00000402641.2_Missense_Mutation_p.N65D	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	563					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.N65D(1)|p.N563D(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				TCAGCTCCGTTTGGACTTGCA	0.652																																																	2	Substitution - Missense(2)	kidney(2)											23.0	21.0	22.0					16																	1417749		2175	4283	6458	SO:0001583	missense	64718			BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"""Zinc fingers, CCCH-type domain containing"""	14184	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 28"", ""unkempt homolog (Drosophila)-like"""	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.1687A>G	16.37:g.1417749T>C	ENSP00000373873:p.Asn563Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Missense_Mutation	SNP	ENST00000389221.4	37	CCDS53981.1	.	.	.	.	.	.	.	.	.	.	t	4.796	0.147959	0.09134	.	.	ENSG00000059145	ENST00000248104;ENST00000389221;ENST00000403703;ENST00000391893;ENST00000397464;ENST00000402641;ENST00000508903;ENST00000513783	T;T	0.63417	-0.03;-0.04	4.67	-0.624	0.11552	.	.	.	.	.	T	0.44244	0.1284	L	0.36672	1.1	0.09310	N	0.999999	B;P;B	0.38195	0.001;0.622;0.189	B;B;B	0.36567	0.001;0.228;0.039	T	0.25882	-1.0119	9	0.23891	T	0.37	.	5.0438	0.14473	0.0:0.1897:0.3189:0.4914	.	563;62;566	Q9H9P5;Q9H9P5-3;E9PDK2	UNKL_HUMAN;.;.	D	62;563;65;62;65;65;566;65	ENSP00000373873:N563D;ENSP00000380606:N65D	ENSP00000248104:N62D	N	-	1	0	UNKL	1357750	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.349000	0.20055	0.185000	0.20105	0.445000	0.29226	AAC		0.652	UNKL-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_001037125	
YTHDC2	64848	hgsc.bcm.edu	37	5	112899158	112899165	+	Frame_Shift_Del	DEL	TAATTGTA	TAATTGTA	-			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	TAATTGTA	TAATTGTA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr5:112899158_112899165delTAATTGTA	ENST00000161863.4	+	19	2624_2631	c.2411_2418delTAATTGTA	c.(2410-2418)ttaattgtafs	p.LIV804fs		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	804					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CCACCAGCTTTAATTGTAAGAAATGCTG	0.327																																																	0																																										SO:0001589	frameshift_variant	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.2411_2418delTAATTGTA	5.37:g.112899158_112899165delTAATTGTA	ENSP00000161863:p.Leu804fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RP66	Frame_Shift_Del	DEL	ENST00000161863.4	37	CCDS4113.1																																																																																				0.327	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2		NM_022828	
ZNF106	64397	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	42742412	42742412	+	Silent	SNP	G	G	A			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr15:42742412G>A	ENST00000263805.4	-	2	2315	c.1989C>T	c.(1987-1989)caC>caT	p.H663H	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_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	663					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.H663H(1)									ATAAGCCAGGGTGTGGACTGG	0.423																																																	1	Substitution - coding silent(1)	kidney(1)											145.0	151.0	149.0					15																	42742412		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.1989C>T	15.37:g.42742412G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	CCDS32208.1																																																																																				0.423	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1		NM_022473	
ZHX3	23051	broad.mit.edu;hgsc.bcm.edu;ucsc.edu|broad.mit.edu;ucsc.edu	37	20	39831542	39831543	+	Missense_Mutation	DNP	GT	GT	CC			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G|T	G|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr20:39831542_39831543GT>CC	ENST00000309060.3	-	4	2429_2430	c.2014_2015AC>GG	c.(2014-2016)ACc>GGc	p.T672G	ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.T672G|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.T672G|ZHX3_ENST00000540170.1_Missense_Mutation_p.T672G|ZHX3_ENST00000560361.1_Missense_Mutation_p.T672G|ZHX3_ENST00000559234.1_Missense_Mutation_p.T672G			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	672					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.T672S(1)|p.T672A(1)		endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				AGCCTTCTTGGTCTCCTCAGCA	0.505																																																	2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	23051			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.2014_2015delinsCC	20.37:g.39831542_39831543delinsCC	ENSP00000312222:p.Thr672Gly	Somatic		WXS	Illumina HiSeq|Illumina GAIIx	Phase_I	E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	CCDS13315.1																																																																																				0.505	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3		NM_015035	
ZKSCAN3	80317	broad.mit.edu;hgsc.bcm.edu	37	6	28333631	28333631	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr6:28333631A>G	ENST00000377255.3	+	7	1483	c.1186A>G	c.(1186-1188)Aag>Gag	p.K396E	ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.K248E|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.K396E	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	396					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K396E(1)		kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						CACTGGGGAGAAGCCCTATGA	0.512																																																	1	Substitution - Missense(1)	kidney(1)											83.0	83.0	83.0					6																	28333631		2203	4300	6503	SO:0001583	missense	80317			U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.1186A>G	6.37:g.28333631A>G	ENSP00000366465:p.Lys396Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Missense_Mutation	SNP	ENST00000377255.3	37	CCDS4650.1	.	.	.	.	.	.	.	.	.	.	.	23.2	4.390755	0.82902	.	.	ENSG00000189298	ENST00000252211;ENST00000341464;ENST00000377255	T;T;T	0.27104	1.69;1.69;1.69	3.97	3.97	0.46021	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37433	0.1003	M	0.70787	2.145	0.33052	D	0.532899	D	0.69078	0.997	D	0.79784	0.993	T	0.37619	-0.9698	9	0.87932	D	0	.	11.9945	0.53194	1.0:0.0:0.0:0.0	.	396	Q9BRR0	ZKSC3_HUMAN	E	396;248;396	ENSP00000252211:K396E;ENSP00000341883:K248E;ENSP00000366465:K396E	ENSP00000252211:K396E	K	+	1	0	ZKSCAN3	28441610	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.280000	0.51677	1.666000	0.50821	0.533000	0.62120	AAG		0.512	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3		NM_024493	
ZNF451	26036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	57013144	57013144	+	Missense_Mutation	SNP	G	G	A	rs536968776	byFrequency	TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr6:57013144G>A	ENST00000370706.4	+	10	2505	c.2261G>A	c.(2260-2262)cGc>cAc	p.R754H	RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.R754H|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.R754H|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586466.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	754					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.R754H(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CTGTGGTTTCGCTGCAGTTTA	0.413													G|||	5	0.000998403	0.0	0.0	5008	,	,		21181	0.0		0.0	False		,,,				2504	0.0051																2	Substitution - Missense(2)	kidney(2)											70.0	65.0	67.0					6																	57013144		2203	4300	6503	SO:0001583	missense	26036			AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2261G>A	6.37:g.57013144G>A	ENSP00000359740:p.Arg754His	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660057	0.29515	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.19806	2.12;2.13;2.12	4.99	4.1	0.47936	Zinc finger, C2H2-like (1);	0.316196	0.34932	N	0.003578	T	0.09774	0.0240	L	0.49350	1.555	0.80722	D	1	B;P;P;P	0.41450	0.445;0.561;0.75;0.561	B;B;B;B	0.31337	0.058;0.128;0.091;0.077	T	0.07214	-1.0784	10	0.66056	D	0.02	-13.5695	13.0991	0.59210	0.0785:0.0:0.9215:0.0	.	754;754;754;754	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	H	754	ENSP00000359740:R754H;ENSP00000350083:R754H;ENSP00000421645:R754H	ENSP00000350083:R754H	R	+	2	0	ZNF451	57121103	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	3.846000	0.55888	2.453000	0.82957	0.557000	0.71058	CGC		0.413	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2		NM_015555	
ZNF83	55769	broad.mit.edu;hgsc.bcm.edu	37	19	53117760	53117760	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr19:53117760T>A	ENST00000597597.1	-	2	2311	c.58A>T	c.(58-60)Aac>Tac	p.N20Y	ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000545872.1_Missense_Mutation_p.N20Y|ZNF83_ENST00000544146.1_Missense_Mutation_p.N20Y|ZNF83_ENST00000391789.4_Missense_Mutation_p.N20Y|ZNF83_ENST00000536937.1_Missense_Mutation_p.N20Y|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Missense_Mutation_p.N20Y|ZNF83_ENST00000301096.3_Missense_Mutation_p.N20Y|ZNF83_ENST00000594682.2_3'UTR			P51522	ZNF83_HUMAN	zinc finger protein 83	20					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.N20Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		GACTGCGGGTTTAATCCAAGC	0.398																																																	1	Substitution - Missense(1)	kidney(1)											57.0	62.0	60.0					19																	53117760		2203	4300	6503	SO:0001583	missense	55769			M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.58A>T	19.37:g.53117760T>A	ENSP00000472619:p.Asn20Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	ENST00000597597.1	37	CCDS12854.1	.	.	.	.	.	.	.	.	.	.	t	16.20	3.057220	0.55325	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	T;T;T;T;T;T	0.09073	3.05;3.05;3.05;3.05;3.05;3.02	2.08	2.08	0.27032	.	.	.	.	.	T	0.14227	0.0344	L	0.53671	1.685	0.20821	N	0.999844	D;D	0.60160	0.987;0.976	P;P	0.52217	0.693;0.549	T	0.10019	-1.0648	9	0.49607	T	0.09	.	8.8819	0.35380	0.0:0.0:0.0:1.0	.	20;20	P51522-2;P51522	.;ZNF83_HUMAN	Y	20	ENSP00000445993:N20Y;ENSP00000301096:N20Y;ENSP00000445470:N20Y;ENSP00000440713:N20Y;ENSP00000439681:N20Y;ENSP00000375666:N20Y	ENSP00000301096:N20Y	N	-	1	0	ZNF83	57809572	0.001000	0.12720	0.039000	0.18376	0.109000	0.19521	0.676000	0.25247	0.946000	0.37632	0.377000	0.23210	AAC		0.398	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1		NM_018300	
LOC407835	407835	broad.mit.edu	37	7	128767412	128767412	+	RNA	SNP	C	C	A			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr7:128767412C>A	ENST00000471777.1	+	0	0																											CTTTGGCCAGCCCGTGGTCGA	0.667																																																	0																																												407835																															7.37:g.128767412C>A		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000471777.1	37																																																																																					0.667	RP11-286H14.4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000350981.1			
KMT2C	58508	broad.mit.edu	37	7	151962258	151962258	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr7:151962258G>C	ENST00000262189.6	-	8	1267	c.1049C>G	c.(1048-1050)cCg>cGg	p.P350R	KMT2C_ENST00000355193.2_Missense_Mutation_p.P350R	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	350					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P350R(2)									GAGGTCTCCCGGGCTGTCGCA	0.398																																																	2	Substitution - Missense(2)	kidney(2)											139.0	127.0	131.0					7																	151962258		2203	4296	6499	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1049C>G	7.37:g.151962258G>C	ENSP00000262189:p.Pro350Arg	Somatic		WXS	Illumina GAIIx	Phase_I	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038389	0.35989	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.98987	-5.3;-5.3	4.65	4.65	0.58169	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.41605	U	0.000854	D	0.98982	0.9653	L	0.55743	1.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99884	1.1118	10	0.59425	D	0.04	.	17.9157	0.88950	0.0:0.0:1.0:0.0	.	350	Q8NEZ4	MLL3_HUMAN	R	350	ENSP00000262189:P350R;ENSP00000347325:P350R	ENSP00000262189:P350R	P	-	2	0	MLL3	151593191	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	9.809000	0.99208	2.271000	0.75665	0.557000	0.71058	CCG		0.398	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			
NR1I2	8856	broad.mit.edu	37	3	119528962	119528962	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr3:119528962C>A	ENST00000337940.4	+	3	417	c.369C>A	c.(367-369)tgC>tgA	p.C123*	NR1I2_ENST00000393716.2_Nonsense_Mutation_p.C84*|NR1I2_ENST00000466380.1_Nonsense_Mutation_p.C84*	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	84	Hinge.				drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.C123*(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	AGGGCGCCTGCGAGATCACCC	0.692																																																	1	Substitution - Nonsense(1)	kidney(1)											19.0	24.0	22.0					3																	119528962		2202	4300	6502	SO:0001587	stop_gained	8856			AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"""Nuclear hormone receptors"""	7968	protein-coding gene	gene with protein product	"""pregnane X receptor"", ""orphan nuclear receptor PXR"""	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.369C>A	3.37:g.119528962C>A	ENSP00000336528:p.Cys123*	Somatic		WXS	Illumina GAIIx	Phase_I	Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Nonsense_Mutation	SNP	ENST00000337940.4	37	CCDS2995.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927460	0.92389	.	.	ENSG00000144852	ENST00000393716;ENST00000466380;ENST00000337940	.	.	.	4.86	-0.372	0.12520	.	0.102085	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.3707	0.16138	0.0:0.4899:0.1456:0.3645	.	.	.	.	X	84;84;123	.	ENSP00000336528:C123X	C	+	3	2	NR1I2	121011652	0.777000	0.28628	0.959000	0.39883	0.994000	0.84299	0.393000	0.20817	0.009000	0.14813	0.655000	0.94253	TGC		0.692	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355126.1			
TNRC18	84629	broad.mit.edu	37	7	5352533	5352533	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr7:5352533delG	ENST00000430969.1	-	27	8337	c.7989delC	c.(7987-7989)tccfs	p.S2671fs	TNRC18_ENST00000399537.4_Frame_Shift_Del_p.S2671fs	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2671	Ser-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		aggaagaggaggaggaggagg	0.632																																																	0													6.0	7.0	7.0					7																	5352533		1540	3535	5075	SO:0001589	frameshift_variant	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7989delC	7.37:g.5352533delG	ENSP00000395538:p.Ser2671fs	Somatic		WXS	Illumina GAIIx	Phase_I	A8MX41|Q96JH1|Q96K91	Frame_Shift_Del	DEL	ENST00000430969.1	37	CCDS47534.1																																																																																				0.632	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				
CDRT1	374286	broad.mit.edu	37	17	15498178	15498178	+	Silent	SNP	C	C	T			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr17:15498178C>T	ENST00000395906.3	-	10	1730	c.1731G>A	c.(1729-1731)gtG>gtA	p.V577V	CDRT1_ENST00000583965.1_Intron|CDRT1_ENST00000354433.3_Silent_p.V77V|RP11-385D13.1_ENST00000455584.2_Silent_p.V887V	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	577								p.V577V(2)|p.V77V(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		ACAGGCATTTCACAGCTCCCT	0.537																																																	4	Substitution - coding silent(4)	kidney(4)											92.0	107.0	102.0					17																	15498178		2203	4300	6503	SO:0001819	synonymous_variant	10626			U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	14379	protein-coding gene	gene with protein product		604596	"""F-box and WD repeat domain containing 10 pseudogene 1"", ""F-box and WD-40 domain protein 10 pseudogene 1"""	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.1731G>A	17.37:g.15498178C>T		Somatic		WXS	Illumina GAIIx	Phase_I	O43848|O95611	Silent	SNP	ENST00000395906.3	37	CCDS45619.1																																																																																				0.537	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1		NM_006382	
HMGB1P1	10357	broad.mit.edu	37	20	56064058	56064058	+	IGR	SNP	G	G	A			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr20:56064058G>A								RBM38 (79669 upstream) : CTCFL (6976 downstream)														p.P9L(1)									TTTGCCTCTCGGCTTCTTAGG	0.483																																																	1	Substitution - Missense(1)	kidney(1)											79.0	77.0	78.0					20																	56064058		2184	4222	6406	SO:0001628	intergenic_variant	0																															20.37:g.56064058G>A		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP		37																																																																																				0	0.483									
USP17L18	100287364	broad.mit.edu	37	4	9250368	9250368	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5678-01A-11D-1534-10	TCGA-CJ-5678-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d49759a2-d2a9-48ba-9447-e42c9d3d64c7	1e675a0b-3ea8-47a9-a732-87a7c6fe0dd2	g.chr4:9250368T>C	ENST00000504209.1	+	1	13	c.13T>C	c.(13-15)Tca>Cca	p.S5P		NM_001256859.1	NP_001243788.1	D6R9N7	U17LI_HUMAN	ubiquitin specific peptidase 17-like family member 18	5					ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.S5P(1)									GGAGGACGACTCACTCTACTT	0.507																																																	1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	0				CCDS59459.1	4p16.1	2012-10-09			ENSG00000250844	ENSG00000250844			44446	protein-coding gene	gene with protein product							Standard	NM_001256859		Approved			D6R9N7	OTTHUMG00000160153	ENST00000504209.1:c.13T>C	4.37:g.9250368T>C	ENSP00000423503:p.Ser5Pro	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000504209.1	37	CCDS59459.1	.	.	.	.	.	.	.	.	.	.	.	9.550	1.115756	0.20795	.	.	ENSG00000250844	ENST00000504209	T	0.13307	2.6	0.37	0.37	0.16160	.	.	.	.	.	T	0.14874	0.0359	N	0.19112	0.55	0.09310	N	1	D	0.67145	0.996	P	0.56788	0.806	T	0.18808	-1.0325	8	0.72032	D	0.01	.	.	.	.	.	5	D6R9N7	.	P	5	ENSP00000423503:S5P	ENSP00000423503:S5P	S	+	1	0	RP11-1286E23.13	.	0.001000	0.12720	0.004000	0.12327	0.080000	0.17528	-0.028000	0.12350	0.379000	0.24794	0.113000	0.15668	TCA		0.507	USP17L18-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359421.1		NM_001256859	
