#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
ATG2A	23130	hgsc.bcm.edu	37	11	64681629	64681629	+	Silent	SNP	C	C	T			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr11:64681629C>T	ENST00000377264.3	-	3	523	c.411G>A	c.(409-411)cgG>cgA	p.R137R	ATG2A_ENST00000421419.2_Silent_p.R137R	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	137					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GTAGCCCATCCCGCAGACACT	0.652																																																	0													23.0	25.0	25.0					11																	64681629		2134	4202	6336	SO:0001819	synonymous_variant	23130				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.411G>A	11.37:g.64681629C>T		Somatic		WXS	SOLID	Phase_I	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	CCDS31602.1																																																																																				0.652	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1		NM_015104	
C10orf54	64115	hgsc.bcm.edu	37	10	73521776	73521776	+	Silent	SNP	C	C	A			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr10:73521776C>A	ENST00000394957.3	-	2	148	c.90G>T	c.(88-90)gtG>gtT	p.V30V	C10orf54_ENST00000481568.2_5'Flank|CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	30					BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.V30V(1)		breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						TGAAGGCTGCCACCGGACCTG	0.612																																																	1	Substitution - coding silent(1)	breast(1)											34.0	32.0	33.0					10																	73521776		2203	4300	6503	SO:0001819	synonymous_variant	64115			AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"""Immunoglobulin superfamily / V-set domain containing"""	30085	protein-coding gene	gene with protein product	"""stress induced secreted protein 1"""	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.90G>T	10.37:g.73521776C>A		Somatic		WXS	SOLID	Phase_I	A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Silent	SNP	ENST00000394957.3	37	CCDS31218.1																																																																																				0.612	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1		NM_022153	
CFAP46	54777	hgsc.bcm.edu;ucsc.edu	37	10	134755189	134755189	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr10:134755189A>C	ENST00000368586.5	-	3	312	c.212T>G	c.(211-213)aTg>aGg	p.M71R	TTC40_ENST00000368585.3_Missense_Mutation_p.M71R|RP13-137A17.4_ENST00000443633.1_lincRNA|TTC40_ENST00000368582.2_Missense_Mutation_p.M71R	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CTTGAAGTACATTTGGATGCA	0.602																																																	0													84.0	79.0	81.0					10																	134755189		2202	4300	6502	SO:0001583	missense	0																														ENST00000368586.5:c.212T>G	10.37:g.134755189A>C	ENSP00000357575:p.Met71Arg	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000368586.5	37	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	A	17.51	3.408429	0.62399	.	.	ENSG00000171811	ENST00000368586;ENST00000368582;ENST00000368585	D;D;D	0.83075	-1.68;-1.68;-1.68	4.45	4.45	0.53987	.	0.243724	0.34025	N	0.004327	D	0.87285	0.6139	L	0.55481	1.735	0.33596	D	0.601683	D;D	0.71674	0.995;0.998	P;P	0.62649	0.77;0.905	D	0.91504	0.5221	10	0.87932	D	0	.	13.3624	0.60663	1.0:0.0:0.0:0.0	.	71;71	Q5SR76-2;Q5SR76-1	.;.	R	71	ENSP00000357575:M71R;ENSP00000357571:M71R;ENSP00000357574:M71R	ENSP00000357571:M71R	M	-	2	0	C10orf93	134605179	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	3.938000	0.56583	1.933000	0.56026	0.528000	0.53228	ATG		0.602	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			
C1R	715	hgsc.bcm.edu	37	12	7188437	7188437	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr12:7188437G>T	ENST00000542285.1	-	11	1510	c.1361C>A	c.(1360-1362)cCc>cAc	p.P454H				P00736	C1R_HUMAN	complement component 1, r subcomponent	506					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTGTTCCTTGGGATACAGGGT	0.612																																																	0													63.0	67.0	66.0					12																	7188437		2183	4294	6477	SO:0001583	missense	715			M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"""Complement system"""	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.1361C>A	12.37:g.7188437G>T	ENSP00000438615:p.Pro454His	Somatic		WXS	SOLID	Phase_I	A6NJQ8|Q68D77|Q8J012	Missense_Mutation	SNP	ENST00000542285.1	37		.	.	.	.	.	.	.	.	.	.	G	15.46	2.841332	0.51057	.	.	ENSG00000159403	ENST00000290575;ENST00000542285	D	0.88277	-2.36	4.99	4.99	0.66335	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000001	D	0.87513	0.6196	.	.	.	0.30895	N	0.729869	P	0.37207	0.587	B	0.40134	0.32	D	0.86827	0.2008	9	0.40728	T	0.16	.	18.2735	0.90076	0.0:0.0:1.0:0.0	.	506	P00736	C1R_HUMAN	H	469;454	ENSP00000438615:P454H	ENSP00000290575:P469H	P	-	2	0	C1R	7058692	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	6.287000	0.72671	2.286000	0.76751	0.591000	0.81541	CCC		0.612	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_001733	
C2orf71	388939	hgsc.bcm.edu	37	2	29287926	29287927	+	In_Frame_Ins	INS	-	-	GCT	rs139768554|rs72122505|rs201781577|rs35753661	byFrequency	TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr2:29287926_29287927insGCT	ENST00000331664.5	-	2	3674_3675	c.3675_3676insAGC	c.(3673-3678)agcgag>agcAGCgag	p.1225_1226insS	C2orf71_ENST00000602958.1_5'Flank	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1225			S -> SS. {ECO:0000269|PubMed:21412943}.		response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)		p.S1225_E1226insS(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GGGCTCTCCTCGCTGCTGCTGC	0.624														1871	0.373602	0.5257	0.2637	5008	,	,		17644	0.4931		0.2545	False		,,,				2504	0.2454																2	Insertion - In frame(2)	ovary(1)|breast(1)								1580,1994		462,656,669						5.2	1.0		dbSNP_130	16	1923,5511		406,1111,2200	no	coding	C2orf71	NM_001029883.1		868,1767,2869	A1A1,A1R,RR		25.8676,44.2082,31.8223				3503,7505				SO:0001652	inframe_insertion	388939				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.3673_3675dupAGC	2.37:g.29287933_29287935dupGCT	ENSP00000332809:p.Ser1225_Ser1225dup	Somatic		WXS	SOLID	Phase_I		In_Frame_Ins	INS	ENST00000331664.5	37	CCDS42669.1																																																																																				0.624	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3		NM_001029883	
CARD10	29775	hgsc.bcm.edu	37	22	37912256	37912256	+	Silent	SNP	T	T	C			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr22:37912256T>C	ENST00000403299.1	-	4	639	c.423A>G	c.(421-423)cgA>cgG	p.R141R	CARD10_ENST00000251973.5_Silent_p.R141R|CARD10_ENST00000494166.1_5'Flank			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	141					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CCCGCAGCCGTCGCACCTCTG	0.652																																																	0													13.0	14.0	14.0					22																	37912256		2189	4291	6480	SO:0001819	synonymous_variant	29775			AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.423A>G	22.37:g.37912256T>C		Somatic		WXS	SOLID	Phase_I	Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Silent	SNP	ENST00000403299.1	37	CCDS13948.1																																																																																				0.652	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1		NM_014550	
CARD17	440068	hgsc.bcm.edu;ucsc.edu	37	11	104971442	104971442	+	Silent	SNP	G	G	A			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr11:104971442G>A	ENST00000375707.1	-	2	88	c.72C>T	c.(70-72)ggC>ggT	p.G24G	CASP1_ENST00000594519.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron|CARD16_ENST00000525374.1_Intron	NM_001007232.1	NP_001007233.1	Q5XLA6	CAR17_HUMAN	caspase recruitment domain family, member 17	24	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						CACCCAGTAAGCCATTTATTG	0.433																																																	0													208.0	196.0	200.0					11																	104971442		2202	4299	6501	SO:0001819	synonymous_variant	440068				CCDS31662.1	11q22.3	2009-01-13				ENSG00000255221			33827	protein-coding gene	gene with protein product	"""Inhibitory CARD"""	609490				15383541	Standard	NM_001007232		Approved	INCA	uc001pir.1	Q5XLA6		ENST00000375707.1:c.72C>T	11.37:g.104971442G>A		Somatic		WXS	SOLID	Phase_I		Silent	SNP	ENST00000375707.1	37	CCDS31662.1																																																																																				0.433	CARD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388181.1		NM_001007232	
CEACAM5	1048	hgsc.bcm.edu;ucsc.edu	37	19	42219789	42219789	+	Silent	SNP	C	C	A			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr19:42219789C>A	ENST00000221992.6	+	4	1038	c.924C>A	c.(922-924)ctC>ctA	p.L308L	CEACAM5_ENST00000398599.4_Silent_p.L308L|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.L308L	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	308	Ig-like 3.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		ACACTGGCCTCAATAGGACCA	0.468																																																	0													128.0	107.0	114.0					19																	42219789		2203	4300	6503	SO:0001819	synonymous_variant	1048			M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.924C>A	19.37:g.42219789C>A		Somatic		WXS	SOLID	Phase_I	H9KVA7	Silent	SNP	ENST00000221992.6	37	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	-	0.454	-0.892525	0.02491	.	.	ENSG00000105388	ENST00000398599	.	.	.	3.12	1.94	0.25998	.	.	.	.	.	T	0.33990	0.0882	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20638	-1.0269	4	.	.	.	.	8.5499	0.33444	0.0:0.7612:0.2388:0.0	.	.	.	.	K	305	.	.	Q	+	1	0	CEACAM5	46911629	0.001000	0.12720	0.014000	0.15608	0.429000	0.31625	0.230000	0.17852	1.475000	0.48197	0.205000	0.17691	CAA		0.468	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2		NM_004363	
CENPK	64105	hgsc.bcm.edu;ucsc.edu	37	5	64847410	64847410	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr5:64847410C>T	ENST00000396679.1	-	5	436	c.222G>A	c.(220-222)tgG>tgA	p.W74*	CENPK_ENST00000510693.1_Nonsense_Mutation_p.W44*|CENPK_ENST00000514814.1_Nonsense_Mutation_p.W74*|CENPK_ENST00000508421.1_Nonsense_Mutation_p.W44*|CENPK_ENST00000510354.1_Nonsense_Mutation_p.W74*|CENPK_ENST00000506282.2_Intron|CENPK_ENST00000242872.3_Nonsense_Mutation_p.W74*	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	74				W -> G (in Ref. 3; AAG31004). {ECO:0000305}.	CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		TTTTTTTCTGCCATTGACTGA	0.259																																																	0													66.0	67.0	67.0					5																	64847410		2201	4294	6495	SO:0001587	stop_gained	64105			BC008504	CCDS3984.1	5q12.3	2013-11-05			ENSG00000123219	ENSG00000123219			29479	protein-coding gene	gene with protein product		611502				8950979	Standard	NM_022145		Approved	FKSG14, SOLT, CENP-K	uc003jtu.3	Q9BS16	OTTHUMG00000131227	ENST00000396679.1:c.222G>A	5.37:g.64847410C>T	ENSP00000379911:p.Trp74*	Somatic		WXS	SOLID	Phase_I	Q9H4L0	Nonsense_Mutation	SNP	ENST00000396679.1	37	CCDS3984.1	.	.	.	.	.	.	.	.	.	.	C	37	6.182444	0.97357	.	.	ENSG00000123219	ENST00000514814;ENST00000396679;ENST00000242872;ENST00000508421;ENST00000510693;ENST00000515497;ENST00000502997;ENST00000510354	.	.	.	6.05	6.05	0.98169	.	0.109380	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.9198	16.1014	0.81175	0.0:1.0:0.0:0.0	.	.	.	.	X	74;74;74;44;44;76;74;74	.	ENSP00000242872:W74X	W	-	3	0	CENPK	64883166	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.891000	0.56227	2.878000	0.98634	0.650000	0.86243	TGG		0.259	CENPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253971.2		NM_022145	
CHN2	1124	hgsc.bcm.edu;ucsc.edu	37	7	29407578	29407578	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr7:29407578C>G	ENST00000222792.6	+	3	649	c.119C>G	c.(118-120)cCc>cGc	p.P40R	CHN2_ENST00000539389.1_Missense_Mutation_p.P40R|CHN2_ENST00000495789.2_Missense_Mutation_p.P53R|CHN2_ENST00000546235.1_Missense_Mutation_p.P25R|CHN2_ENST00000539406.1_Missense_Mutation_p.P115R|CHN2_ENST00000435288.2_Missense_Mutation_p.P40R	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	40					positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GCACCTCGTCCCAAGAGAATC	0.413																																					Ovarian(1;44 48 13232 18918 31480)												0													114.0	111.0	112.0					7																	29407578		2203	4300	6503	SO:0001583	missense	1124			L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.119C>G	7.37:g.29407578C>G	ENSP00000222792:p.Pro40Arg	Somatic		WXS	SOLID	Phase_I	A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085735	0.76642	.	.	ENSG00000106069	ENST00000439384;ENST00000539406;ENST00000222792;ENST00000435288;ENST00000409350;ENST00000495789;ENST00000539389;ENST00000546235	T;T;T;T;T;T;T;T	0.71103	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.54;-0.05	5.12	5.12	0.69794	.	0.250879	0.40144	N	0.001168	D	0.83769	0.5326	M	0.76574	2.34	0.80722	D	1	D;D;D;B;D	0.89917	1.0;0.998;1.0;0.004;0.998	D;D;D;B;D	0.97110	1.0;0.987;0.998;0.003;0.987	D	0.85912	0.1441	10	0.87932	D	0	.	16.3346	0.83053	0.0:1.0:0.0:0.0	.	25;53;115;40;40	B7Z1W9;B7Z1V0;F5H003;B3VCG1;P52757	.;.;.;.;CHIO_HUMAN	R	115;115;40;40;53;53;40;25	ENSP00000409843:P115R;ENSP00000444063:P115R;ENSP00000222792:P40R;ENSP00000400282:P40R;ENSP00000386968:P53R;ENSP00000438587:P53R;ENSP00000440526:P40R;ENSP00000442812:P25R	ENSP00000222792:P40R	P	+	2	0	CHN2	29374103	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.472000	0.66768	2.388000	0.81334	0.585000	0.79938	CCC		0.413	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2		NM_004067	
COL3A1	1281	hgsc.bcm.edu	37	2	189860859	189860859	+	Silent	SNP	C	C	T	rs141091206		TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr2:189860859C>T	ENST00000304636.3	+	23	1787	c.1617C>T	c.(1615-1617)ccC>ccT	p.P539P	COL3A1_ENST00000317840.5_Silent_p.P539P	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	539	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AGGGCATGCCCGGAAGTCCAG	0.343													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13923	0.0		0.0	False		,,,				2504	0.0																0								C		1,4403	2.1+/-5.4	0,1,2201	63.0	73.0	70.0		1617	-7.4	0.6	2	dbSNP_134	70	0,8600		0,0,4300	no	coding-synonymous	COL3A1	NM_000090.3		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		539/1467	189860859	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	1281			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1617C>T	2.37:g.189860859C>T		Somatic		WXS	SOLID	Phase_I	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	37	CCDS2297.1																																																																																				0.343	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3		NM_000090	
D2HGDH	728294	hgsc.bcm.edu	37	2	242684222	242684222	+	Silent	SNP	T	T	A			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr2:242684222T>A	ENST00000321264.4	+	6	992	c.783T>A	c.(781-783)acT>acA	p.T261T	D2HGDH_ENST00000342518.6_Silent_p.T261T|D2HGDH_ENST00000537090.1_Silent_p.T261T|D2HGDH_ENST00000403782.1_Silent_p.T127T	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	261	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CGGAGGGCACTTTGGGGATCA	0.602																																																	0													229.0	175.0	193.0					2																	242684222		2203	4299	6502	SO:0001819	synonymous_variant	728294			AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.783T>A	2.37:g.242684222T>A		Somatic		WXS	SOLID	Phase_I	B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Silent	SNP	ENST00000321264.4	37	CCDS33426.1	.	.	.	.	.	.	.	.	.	.	T	5.516	0.280224	0.10458	.	.	ENSG00000180902	ENST00000417686	.	.	.	4.97	-2.15	0.07102	.	.	.	.	.	T	0.42337	0.1198	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30031	-0.9992	4	.	.	.	-7.5069	3.4791	0.07595	0.0977:0.2398:0.4072:0.2553	.	.	.	.	I	103	.	.	F	+	1	0	D2HGDH	242332895	0.000000	0.05858	0.989000	0.46669	0.483000	0.33249	-1.842000	0.01681	-0.413000	0.07507	-0.464000	0.05259	TTT		0.602	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2		NM_152783	
DFNB31	25861	hgsc.bcm.edu	37	9	117166206	117166206	+	Missense_Mutation	SNP	G	G	T	rs2274158	byFrequency	TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr9:117166206G>T	ENST00000362057.3	-	10	2556	c.2388C>A	c.(2386-2388)aaC>aaA	p.N796K	DFNB31_ENST00000374059.3_Missense_Mutation_p.N445K|DFNB31_ENST00000265134.6_Missense_Mutation_p.N413K	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	796			N -> K (in dbSNP:rs2274158).		inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGGCCTCTCGTTCCGAGGCA	0.652													G|||	1114	0.222444	0.0507	0.3213	5008	,	,		18204	0.3472		0.2167	False		,,,				2504	0.2618																0								G	LYS/ASN,LYS/ASN,LYS/ASN	353,4053	182.6+/-210.3	11,331,1861	115.0	100.0	105.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1239,2385,2388	-7.5	0.0	9	dbSNP_100	105	1987,6613	346.0+/-326.0	213,1561,2526	yes	missense,missense,missense	DFNB31	NM_001083885.2,NM_001173425.1,NM_015404.3	94,94,94	224,1892,4387	TT,TG,GG		23.1047,8.0118,17.9917	benign,benign,benign	413/525,795/907,796/908	117166206	2340,10666	2203	4300	6503	SO:0001583	missense	25861			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.2388C>A	9.37:g.117166206G>T	ENSP00000354623:p.Asn796Lys	Somatic		WXS	SOLID	Phase_I	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	CCDS6806.1	512	0.23443223443223443	31	0.06300813008130081	109	0.3011049723756906	207	0.3618881118881119	165	0.21767810026385223	G	2.127	-0.399968	0.04865	0.080118	0.231047	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.06371	4.2;4.18;3.31	5.03	-7.49	0.01355	PDZ/DHR/GLGF (1);	0.596241	0.16860	N	0.196549	T	0.00012	0.0000	L	0.29908	0.895	0.27905	P	0.9388432	B;B;B	0.17667	0.01;0.013;0.023	B;B;B	0.24155	0.005;0.005;0.051	T	0.43893	-0.9363	9	0.16420	T	0.52	-6.4945	4.6597	0.12636	0.5065:0.2391:0.1757:0.0786	rs2274158;rs58851791;rs2274158	795;796;445	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	K	413;445;796	ENSP00000265134:N413K;ENSP00000363172:N445K;ENSP00000354623:N796K	ENSP00000265134:N413K	N	-	3	2	DFNB31	116206027	0.000000	0.05858	0.001000	0.08648	0.053000	0.15095	-2.700000	0.00824	-1.629000	0.01546	-1.523000	0.00931	AAC		0.652	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2		NM_015404	
DNM1P46	196968	hgsc.bcm.edu	37	15	100340386	100340386	+	RNA	SNP	T	T	G	rs577492113	byFrequency	TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr15:100340386T>G	ENST00000341853.1	-	0	540					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										CTCTGCCGACTCCTCCATGAG	0.582													.|||	2	0.000399361	0.0015	0.0	5008	,	,		22921	0.0		0.0	False		,,,				2504	0.0																0													17.0	18.0	17.0					15																	100340386		1237	3085	4322			196968			AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100340386T>G		Somatic		WXS	SOLID	Phase_I	Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																					0.582	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1		NR_003260	
DNM1P46	196968	hgsc.bcm.edu	37	15	100340393	100340393	+	RNA	SNP	T	T	C	rs2958978	byFrequency	TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr15:100340393T>C	ENST00000341853.1	-	0	533					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										GACTCCTCCATGAGTGTCTTC	0.582																																																	0													18.0	18.0	18.0					15																	100340393		1281	3114	4395			196968			AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100340393T>C		Somatic		WXS	SOLID	Phase_I	Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																					0.582	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1		NR_003260	
ENGASE	64772	hgsc.bcm.edu	37	17	77075667	77075667	+	Silent	SNP	T	T	C	rs3744183	byFrequency	TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr17:77075667T>C	ENST00000579016.1	+	4	513	c.513T>C	c.(511-513)atT>atC	p.I171I	ENGASE_ENST00000539857.2_Intron	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	171						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CCGTCACCATTCCCCCAGTGG	0.587													C|||	2085	0.416334	0.6316	0.4063	5008	,	,		19718	0.38		0.173	False		,,,				2504	0.4202																0													103.0	128.0	120.0					17																	77075667		2115	4220	6335	SO:0001819	synonymous_variant	64772			AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.513T>C	17.37:g.77075667T>C		Somatic		WXS	SOLID	Phase_I	Q659F0|Q8TB86|Q9H6U4	Silent	SNP	ENST00000579016.1	37	CCDS42394.1																																																																																				0.587	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1		NM_022759	
EYS	346007	hgsc.bcm.edu;ucsc.edu	37	6	66205285	66205285	+	Missense_Mutation	SNP	C	C	T	rs377622148		TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr6:66205285C>T	ENST00000370621.3	-	4	545	c.19G>A	c.(19-21)Gtc>Atc	p.V7I	EYS_ENST00000503581.1_Missense_Mutation_p.V7I|EYS_ENST00000370618.3_Missense_Mutation_p.V7I|EYS_ENST00000393380.2_Missense_Mutation_p.V7I|EYS_ENST00000370616.2_Missense_Mutation_p.V7I|EYS_ENST00000342421.5_Missense_Mutation_p.V7I			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	7					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTCAGAATGACGATTGATTTG	0.368																																																	0								T	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	62.0	60.0	61.0		19,19,19	0.5	0.0	6		61	1,8599	817.6+/-406.9	0,1,4299	no	missense,missense,missense	EYS	NM_198283.1,NM_001142801.1,NM_001142800.1	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	7/595,7/620,7/3145	66205285	1,13005	2203	4300	6503	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.19G>A	6.37:g.66205285C>T	ENSP00000359655:p.Val7Ile	Somatic		WXS	SOLID	Phase_I	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	T	0.403	-0.917481	0.02396	0.0	1.16E-4	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.89810	-1.59;-1.57;-1.57;-2.57;-2.52;-2.52	4.48	0.519	0.17035	.	.	.	.	.	T	0.45856	0.1363	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.45687	-0.9244	9	0.05721	T	0.95	.	3.4454	0.07478	0.1922:0.3504:0.0:0.4574	.	7;7;7	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	I	7	ENSP00000424243:V7I;ENSP00000359655:V7I;ENSP00000359650:V7I;ENSP00000377042:V7I;ENSP00000341818:V7I;ENSP00000359652:V7I	ENSP00000341818:V7I	V	-	1	0	EYS	66262006	0.000000	0.05858	0.000000	0.03702	0.217000	0.24651	-0.199000	0.09491	-0.412000	0.07519	-1.496000	0.00964	GTC		0.368	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3		XM_294050	
FAM179B	23116	hgsc.bcm.edu	37	14	45473301	45473301	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr14:45473301A>C	ENST00000361577.3	+	4	2590	c.2376A>C	c.(2374-2376)caA>caC	p.Q792H	FAM179B_ENST00000382233.2_Missense_Mutation_p.Q792H|FAM179B_ENST00000361462.2_Missense_Mutation_p.Q792H|KLHL28_ENST00000553817.1_Intron	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	792										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AGACACAGCAAACATTTGGTA	0.353																																																	0													87.0	75.0	79.0					14																	45473301		2203	4300	6503	SO:0001583	missense	23116			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.2376A>C	14.37:g.45473301A>C	ENSP00000355045:p.Gln792His	Somatic		WXS	SOLID	Phase_I	Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	A	18.22	3.576433	0.65878	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233;ENST00000555874	T;T;T;T	0.12984	2.63;2.63;3.84;3.84	5.56	-2.87	0.05700	Armadillo-type fold (1);	0.386121	0.24481	N	0.038141	T	0.08403	0.0209	N	0.24115	0.695	0.23546	N	0.997447	P;P;P	0.48016	0.846;0.904;0.904	B;B;B	0.40329	0.326;0.326;0.243	T	0.26430	-1.0103	10	0.66056	D	0.02	-3.1966	12.3803	0.55303	0.5906:0.0:0.4094:0.0	.	792;792;792	G3XAE9;Q9Y4F4;Q9Y4F4-2	.;F179B_HUMAN;.	H	792;792;792;792;111	ENSP00000355045:Q792H;ENSP00000354917:Q792H;ENSP00000371668:Q792H;ENSP00000451141:Q111H	ENSP00000354917:Q792H	Q	+	3	2	FAM179B	44543051	0.957000	0.32711	0.953000	0.39169	0.996000	0.88848	0.460000	0.21924	-0.443000	0.07180	0.460000	0.39030	CAA		0.353	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1		XM_113781	
FBXO43	286151	hgsc.bcm.edu	37	8	101153258	101153258	+	Silent	SNP	T	T	C			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr8:101153258T>C	ENST00000428847.2	-	2	1540	c.1224A>G	c.(1222-1224)gaA>gaG	p.E408E		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	408					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CTGCTCTTTTTTCAGAGTCAG	0.483																																																	0													105.0	105.0	105.0					8																	101153258		1989	4185	6174	SO:0001819	synonymous_variant	286151			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1224A>G	8.37:g.101153258T>C		Somatic		WXS	SOLID	Phase_I		Silent	SNP	ENST00000428847.2	37	CCDS47904.1																																																																																				0.483	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1		XM_209918	
GAGE10	643832	hgsc.bcm.edu;ucsc.edu	37	X	49173756	49173756	+	Missense_Mutation	SNP	G	G	C	rs376577624		TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chrX:49173756G>C	ENST00000407599.3	+	4	410	c.317G>C	c.(316-318)aGg>aCg	p.R106T		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	106										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					GAGGTGAAAAGGCCTGAAGAA	0.473																																																	0								C	THR/ARG	1,3834		0,0,1,1632,570	161.0	163.0	162.0		317	-1.4	0.0	X		162	0,6728		0,0,0,2428,1872	no	missense	GAGE10	NM_001098413.2	71	0,0,1,4060,2442	CC,CG,C,GG,G		0.0,0.0261,0.0095	benign	106/117	49173756	1,10562	2203	4300	6503	SO:0001583	missense	643832					Xp11.23	2010-06-03			ENSG00000215274	ENSG00000215274			30968	protein-coding gene	gene with protein product							Standard	XM_006710256		Approved	OTTHUMG00000024136	uc010nir.1	A6NGK3	OTTHUMG00000024136	ENST00000407599.3:c.317G>C	X.37:g.49173756G>C	ENSP00000385415:p.Arg106Thr	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000407599.3	37	CCDS43938.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.006778	0.00043	2.61E-4	0.0	ENSG00000215274	ENST00000407599	T	0.08282	3.11	1.62	-1.35	0.09114	.	.	.	.	.	T	0.02571	0.0078	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44034	-0.9354	9	0.23302	T	0.38	.	3.0101	0.06042	0.0:0.3577:0.2491:0.3932	.	106	A6NGK3	GAG10_HUMAN	T	106	ENSP00000385415:R106T	ENSP00000385415:R106T	R	+	2	0	GAGE10	49060700	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.435000	0.02423	-1.003000	0.03425	-3.704000	0.00023	AGG		0.473	GAGE10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060816.1		NM_001098413	
HLTF	6596	hgsc.bcm.edu;ucsc.edu	37	3	148789184	148789184	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr3:148789184C>T	ENST00000310053.5	-	7	942	c.749G>A	c.(748-750)tGg>tAg	p.W250*	HLTF_ENST00000465259.1_Nonsense_Mutation_p.W250*|HLTF_ENST00000494055.1_Nonsense_Mutation_p.W250*|HLTF_ENST00000392912.2_Nonsense_Mutation_p.W250*	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	250					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.W250*(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGACACCATCCAAGCTAGAGC	0.368																																																	1	Substitution - Nonsense(1)	lung(1)											125.0	118.0	120.0					3																	148789184		2203	4300	6503	SO:0001587	stop_gained	6596			L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.749G>A	3.37:g.148789184C>T	ENSP00000308944:p.Trp250*	Somatic		WXS	SOLID	Phase_I	D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Nonsense_Mutation	SNP	ENST00000310053.5	37	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	C	38	7.182382	0.98118	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000416117;ENST00000392913	.	.	.	5.28	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-31.4742	13.1552	0.59514	0.0:0.9211:0.0:0.0789	.	.	.	.	X	250;250;250;250;247;247	.	ENSP00000308944:W250X	W	-	2	0	HLTF	150271874	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.929000	0.75852	1.362000	0.46000	0.655000	0.94253	TGG		0.368	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			
HSPA9	3313	hgsc.bcm.edu;ucsc.edu	37	5	137902712	137902712	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr5:137902712A>G	ENST00000297185.3	-	8	982	c.857T>C	c.(856-858)aTt>aCt	p.I286T	HSPA9_ENST00000501917.2_5'Flank	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	286					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTCCTTCACAATGTGCCGTAG	0.413																																																	0													150.0	158.0	155.0					5																	137902712		2203	4300	6503	SO:0001583	missense	3313			L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"""Heat shock proteins / HSP70"""	5244	protein-coding gene	gene with protein product		600548	"""heat shock 70kDa protein 9B (mortalin-2)"""	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.857T>C	5.37:g.137902712A>G	ENSP00000297185:p.Ile286Thr	Somatic		WXS	SOLID	Phase_I	B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Missense_Mutation	SNP	ENST00000297185.3	37	CCDS4208.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.757356	0.89843	.	.	ENSG00000113013	ENST00000297185;ENST00000541333;ENST00000540484	T	0.01084	5.36	5.2	5.2	0.72013	.	0.046361	0.85682	D	0.000000	T	0.08537	0.0212	H	0.96777	3.88	0.80722	D	1	P;P	0.49862	0.661;0.929	P;P	0.51297	0.574;0.665	T	0.01356	-1.1376	10	0.87932	D	0	-16.368	15.03	0.71698	1.0:0.0:0.0:0.0	.	217;286	B7Z1V7;P38646	.;GRP75_HUMAN	T	286;239;272	ENSP00000297185:I286T	ENSP00000297185:I286T	I	-	2	0	HSPA9	137930611	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.201000	0.95017	2.075000	0.62263	0.533000	0.62120	ATT		0.413	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1		NM_004134	
INO80D	54891	hgsc.bcm.edu	37	2	206882406	206882406	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr2:206882406T>A	ENST00000403263.1	-	8	1944	c.1540A>T	c.(1540-1542)Atg>Ttg	p.M514L		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	514					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GAACTTACCATTTTTTTGGCA	0.388																																																	0													79.0	78.0	78.0					2																	206882406		1842	4090	5932	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.1540A>T	2.37:g.206882406T>A	ENSP00000384198:p.Met514Leu	Somatic		WXS	SOLID	Phase_I	B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	T	34	5.297270	0.95574	.	.	ENSG00000114933	ENST00000403263;ENST00000233270;ENST00000424117	T;T	0.33865	1.44;1.39	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.51924	0.1703	L	0.51422	1.61	0.80722	D	1	P	0.43024	0.798	P	0.60236	0.871	T	0.43475	-0.9389	10	0.33940	T	0.23	.	15.2432	0.73488	0.0:0.0:0.0:1.0	.	514	Q53TQ3-2	.	L	514;514;409	ENSP00000384198:M514L;ENSP00000402369:M409L	ENSP00000233270:M514L	M	-	1	0	INO80D	206590651	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.028000	0.88798	2.004000	0.58718	0.533000	0.62120	ATG		0.388	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1		NM_017759	
KANK4	163782	hgsc.bcm.edu	37	1	62740524	62740524	+	Silent	SNP	T	T	G			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr1:62740524T>G	ENST00000371153.4	-	3	630	c.252A>C	c.(250-252)gcA>gcC	p.A84A	KANK4_ENST00000371150.1_5'Flank|KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	84						cytoplasm (GO:0005737)		p.A84A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGGGCGGGGCTGCAGGGGGGC	0.587																																																	1	Substitution - coding silent(1)	ovary(1)											76.0	88.0	84.0					1																	62740524		2203	4300	6503	SO:0001819	synonymous_variant	163782			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.252A>C	1.37:g.62740524T>G		Somatic		WXS	SOLID	Phase_I	B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Silent	SNP	ENST00000371153.4	37	CCDS620.1																																																																																				0.587	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1		NM_181712	
LAMC3	10319	hgsc.bcm.edu;ucsc.edu	37	9	133942465	133942465	+	Silent	SNP	C	C	A			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr9:133942465C>A	ENST00000361069.4	+	14	2599	c.2466C>A	c.(2464-2466)ggC>ggA	p.G822G	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	822	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ATGCCGTGGGCAACTGTGACC	0.647																																																	0													76.0	63.0	67.0					9																	133942465		2203	4300	6503	SO:0001819	synonymous_variant	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.2466C>A	9.37:g.133942465C>A		Somatic		WXS	SOLID	Phase_I	B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	37	CCDS6938.1																																																																																				0.647	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3		NM_006059	
LRP1B	53353	hgsc.bcm.edu	37	2	141571374	141571374	+	Splice_Site	SNP	A	A	G			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr2:141571374A>G	ENST00000389484.3	-	32	6182	c.5211T>C	c.(5209-5211)ggT>ggC	p.G1737G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1737					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTATCGATAGACCTGTAATTA	0.343										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													88.0	82.0	84.0					2																	141571374		2201	4300	6501	SO:0001630	splice_region_variant	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5210-1T>C	2.37:g.141571374A>G		Somatic		WXS	SOLID	Phase_I	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																				0.343	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		NM_018557	Silent
MED12L	116931	hgsc.bcm.edu;ucsc.edu	37	3	151067920	151067920	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr3:151067920C>G	ENST00000474524.1	+	15	2257	c.2219C>G	c.(2218-2220)gCa>gGa	p.A740G	MED12L_ENST00000491549.1_3'UTR|MED12L_ENST00000273432.4_Missense_Mutation_p.A600G|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	740						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGTGATGAAGCAAGGCATCAG	0.408																																																	0													180.0	184.0	183.0					3																	151067920		2203	4300	6503	SO:0001583	missense	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2219C>G	3.37:g.151067920C>G	ENSP00000417235:p.Ala740Gly	Somatic		WXS	SOLID	Phase_I	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517162	0.85495	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.63580	0.16;-0.05	5.81	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.76069	0.3936	L	0.61218	1.895	0.80722	D	1	D;B	0.67145	0.996;0.399	D;B	0.72338	0.977;0.212	T	0.78984	-0.1988	10	0.87932	D	0	-11.3747	14.6581	0.68850	0.0:0.9296:0.0:0.0704	.	600;740	F8WAE6;Q86YW9	.;MD12L_HUMAN	G	740;600	ENSP00000417235:A740G;ENSP00000273432:A600G	ENSP00000273432:A600G	A	+	2	0	MED12L	152550610	1.000000	0.71417	0.421000	0.26609	0.980000	0.70556	5.401000	0.66326	1.462000	0.47948	0.557000	0.71058	GCA		0.408	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2		NM_053002	
MYO7B	4648	hgsc.bcm.edu	37	2	128380888	128380888	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr2:128380888G>A	ENST00000409816.2	+	27	3711	c.3679G>A	c.(3679-3681)Gct>Act	p.A1227T	MYO7B_ENST00000409090.1_Missense_Mutation_p.A80T|MYO7B_ENST00000389524.4_Missense_Mutation_p.A1227T|MYO7B_ENST00000428314.1_Missense_Mutation_p.A1227T|RP11-286H15.1_ENST00000609697.1_RNA			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1227	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CATGCACATCGCTCACAAGCA	0.622																																																	0													64.0	73.0	70.0					2																	128380888		2147	4244	6391	SO:0001583	missense	4648				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.3679G>A	2.37:g.128380888G>A	ENSP00000386461:p.Ala1227Thr	Somatic		WXS	SOLID	Phase_I	Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	.	18.82	3.704595	0.68615	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000437387;ENST00000409090	T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43	4.82	4.82	0.62117	Band 4.1 domain (1);FERM domain (1);	0.232798	0.36628	N	0.002496	D	0.88969	0.6582	M	0.85462	2.755	0.31762	N	0.633269	D	0.89917	1.0	P	0.58721	0.844	D	0.91223	0.5008	10	0.72032	D	0.01	.	16.6443	0.85172	0.0:0.0:1.0:0.0	.	1227	Q6PIF6	MYO7B_HUMAN	T	1227;1227;80;1227;80;80	ENSP00000374175:A1227T;ENSP00000415090:A1227T;ENSP00000386461:A1227T;ENSP00000404927:A80T;ENSP00000386850:A80T	ENSP00000272666:A80T	A	+	1	0	MYO7B	128097358	0.998000	0.40836	0.896000	0.35187	0.307000	0.27823	3.296000	0.51802	2.217000	0.71921	0.491000	0.48974	GCT		0.622	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3		XM_291001	
NBEAL2	23218	hgsc.bcm.edu	37	3	47050126	47050126	+	Silent	SNP	C	C	A			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr3:47050126C>A	ENST00000450053.3	+	52	8174	c.7995C>A	c.(7993-7995)gcC>gcA	p.A2665A	NBEAL2_ENST00000383740.2_Silent_p.A914A|NBEAL2_ENST00000292309.5_Silent_p.A2481A	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2665					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGGGCACCGCCCAGTGCGCCC	0.567																																																	0													53.0	58.0	56.0					3																	47050126		2011	4173	6184	SO:0001819	synonymous_variant	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.7995C>A	3.37:g.47050126C>A		Somatic		WXS	SOLID	Phase_I	O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.298|9.298	1.052372|1.052372	0.19827|0.19827	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000416683|ENST00000443829	.|.	.|.	.|.	5.01|5.01	-0.895|-0.895	0.10560|0.10560	.|.	.|.	.|.	.|.	.|.	T|T	0.39809|0.39809	0.1092|0.1092	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.26326|0.26326	-1.0106|-1.0106	4|4	.|.	.|.	.|.	.|.	1.0655|1.0655	0.01610|0.01610	0.1353:0.2966:0.2654:0.3027|0.1353:0.2966:0.2654:0.3027	.|.	.|.	.|.	.|.	H|T	1953|1004	.|.	.|.	P|P	+|+	2|1	0|0	NBEAL2|NBEAL2	47025130|47025130	0.081000|0.081000	0.21417|0.21417	0.992000|0.992000	0.48379|0.48379	0.966000|0.966000	0.64601|0.64601	0.311000|0.311000	0.19380|0.19380	-0.102000|-0.102000	0.12197|0.12197	-0.438000|-0.438000	0.05819|0.05819	CCC|CCA		0.567	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3		XM_291064	
PACS2	23241	hgsc.bcm.edu	37	14	105850749	105850749	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr14:105850749C>A	ENST00000325438.8	+	17	2332	c.1828C>A	c.(1828-1830)Cag>Aag	p.Q610K	PACS2_ENST00000458164.2_Missense_Mutation_p.Q614K|PACS2_ENST00000447393.1_Missense_Mutation_p.Q614K|PACS2_ENST00000430725.2_Missense_Mutation_p.Q535K|PACS2_ENST00000551743.1_Missense_Mutation_p.Q124K|PACS2_ENST00000547217.1_Missense_Mutation_p.Q580K			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	610					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CAACTTCTTCCAGGACCTGGC	0.682																																																	0													50.0	41.0	44.0					14																	105850749		2202	4299	6501	SO:0001583	missense	23241			AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.1828C>A	14.37:g.105850749C>A	ENSP00000321834:p.Gln610Lys	Somatic		WXS	SOLID	Phase_I	A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	37	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444746	0.63178	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217;ENST00000551743	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	L	0.44542	1.39	0.54753	D	0.999982	P;B;P;P	0.52170	0.589;0.354;0.951;0.775	B;B;P;B	0.54100	0.216;0.138;0.742;0.438	T	0.29027	-1.0025	10	0.05833	T	0.94	-23.3375	15.9729	0.80034	0.0:1.0:0.0:0.0	.	614;614;610;611	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	K	535;610;614;614;580;124	ENSP00000393524:Q535K;ENSP00000321834:Q610K;ENSP00000399732:Q614K;ENSP00000393559:Q614K;ENSP00000449525:Q580K;ENSP00000449254:Q124K	ENSP00000321834:Q610K	Q	+	1	0	PACS2	104921794	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.552000	0.60747	2.178000	0.69098	0.655000	0.94253	CAG		0.682	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1		XM_377355	
PHF20L1	51105	hgsc.bcm.edu;ucsc.edu	37	8	133807018	133807018	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr8:133807018G>C	ENST00000395386.2	+	4	594	c.295G>C	c.(295-297)Gac>Cac	p.D99H	PHF20L1_ENST00000395379.1_Missense_Mutation_p.D99H|PHF20L1_ENST00000395376.1_Missense_Mutation_p.D99H|PHF20L1_ENST00000395390.2_Missense_Mutation_p.D99H|PHF20L1_ENST00000337920.4_Missense_Mutation_p.D99H|PHF20L1_ENST00000220847.7_5'UTR	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	99	Tudor 2.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TCGTTGGACAGACTGTCGCTA	0.303																																																	0													55.0	58.0	57.0					8																	133807018		2203	4300	6503	SO:0001583	missense	51105			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.295G>C	8.37:g.133807018G>C	ENSP00000378784:p.Asp99His	Somatic		WXS	SOLID	Phase_I	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800883	0.90538	.	.	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000522580;ENST00000395390	T;T;T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.78	5.78	0.91487	Tudor-like, plant (1);Tudor domain (1);	0.086990	0.85682	D	0.000000	T	0.76456	0.3990	M	0.83012	2.62	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.99;1.0;0.999;0.999	T	0.79024	-0.1972	10	0.87932	D	0	-6.5086	19.0054	0.92848	0.0:0.0:1.0:0.0	.	99;99;99;99;99	F8W9L8;A8MW92;A8MW92-4;A8MW92-2;A8MUE8	.;P20L1_HUMAN;.;.;.	H	99;99;99;99;99;99;99;57;99	ENSP00000378781:D99H;ENSP00000378777:D99H;ENSP00000355301:D99H;ENSP00000378784:D99H;ENSP00000324519:D99H;ENSP00000338269:D99H;ENSP00000378775:D99H;ENSP00000428091:D57H;ENSP00000378788:D99H	ENSP00000324519:D99H	D	+	1	0	PHF20L1	133876200	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.824000	0.99380	2.731000	0.93534	0.557000	0.71058	GAC		0.303	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3		NM_016018	
PHF21A	51317	hgsc.bcm.edu	37	11	45955639	45955639	+	Silent	SNP	C	C	A			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr11:45955639C>A	ENST00000418153.2	-	18	2122	c.1923G>T	c.(1921-1923)ggG>ggT	p.G641G	PHF21A_ENST00000323180.6_Silent_p.G595G|PHF21A_ENST00000257821.4_Silent_p.G642G			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	641	Required for transcriptional repression.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						TGGAGATGGCCCCCACAGTGG	0.622																																																	0													50.0	56.0	54.0					11																	45955639		2202	4299	6501	SO:0001819	synonymous_variant	51317			AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.1923G>T	11.37:g.45955639C>A		Somatic		WXS	SOLID	Phase_I	D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Silent	SNP	ENST00000418153.2	37	CCDS44578.1																																																																																				0.622	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1		NM_016621	
PISD	23761	hgsc.bcm.edu	37	22	32017820	32017820	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr22:32017820G>A	ENST00000439502.2	-	4	596	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C	PISD_ENST00000478893.1_5'UTR|PISD_ENST00000397500.1_Missense_Mutation_p.R91C|PISD_ENST00000266095.5_Missense_Mutation_p.R91C|PISD_ENST00000336566.4_Missense_Mutation_p.R125C|PISD_ENST00000382151.2_Missense_Mutation_p.R91C			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	125					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylserine decarboxylase activity (GO:0004609)			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	TGATTGAGGCGACCCCAGGCC	0.622																																																	0													71.0	62.0	65.0					22																	32017820		2203	4300	6503	SO:0001583	missense	23761				CCDS13899.1	22q12.2	2011-01-25			ENSG00000241878	ENSG00000241878	4.1.1.65		8999	protein-coding gene	gene with protein product		612770				10591208	Standard	NM_014338		Approved	dJ858B16.2, PSDC	uc003alk.2	Q9UG56	OTTHUMG00000030252	ENST00000439502.2:c.373C>T	22.37:g.32017820G>A	ENSP00000391739:p.Arg125Cys	Somatic		WXS	SOLID	Phase_I	B1AKM7|O43207|O95535|Q6IC28|Q96GQ2|Q9UGA9	Missense_Mutation	SNP	ENST00000439502.2	37		.	.	.	.	.	.	.	.	.	.	G	24.4	4.531634	0.85706	.	.	ENSG00000241878	ENST00000382151;ENST00000266095;ENST00000397500;ENST00000439502;ENST00000336566;ENST00000451635;ENST00000422020	.	.	.	5.62	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.76263	0.3963	M	0.79614	2.46	0.80722	D	1	D;D;D;P	0.76494	0.999;0.999;0.999;0.913	D;P;P;B	0.63703	0.917;0.872;0.838;0.334	T	0.77021	-0.2742	9	0.39692	T	0.17	-43.4371	13.5982	0.62002	0.0745:0.0:0.9255:0.0	.	115;125;91;91	B1AJZ0;Q9UG56;B1AKM6;Q9UG56-2	.;PISD_HUMAN;.;.	C	91;91;91;125;125;91;91	.	ENSP00000266095:R91C	R	-	1	0	PISD	30347820	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	9.471000	0.97696	1.387000	0.46486	-0.251000	0.11542	CGC		0.622	PISD-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000075106.4			
PITPNM3	83394	hgsc.bcm.edu	37	17	6441376	6441376	+	Missense_Mutation	SNP	G	G	A	rs28493751	byFrequency	TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr17:6441376G>A	ENST00000262483.8	-	2	136	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	PITPNM3_ENST00000421306.3_Missense_Mutation_p.P17S	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	17			P -> S (in dbSNP:rs28493751).		phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)	p.P17S(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AGGTGCCAGGGGGCACCGCCG	0.552													G|||	267	0.0533147	0.0265	0.0648	5008	,	,		18689	0.002		0.1103	False		,,,				2504	0.0757																1	Substitution - Missense(1)	central_nervous_system(1)						G	SER/PRO,SER/PRO	196,4210	119.6+/-157.3	4,188,2011	39.0	37.0	38.0		49,49	4.9	1.0	17	dbSNP_125	38	939,7661	200.3+/-244.1	62,815,3423	yes	missense,missense	PITPNM3	NM_001165966.1,NM_031220.3	74,74	66,1003,5434	AA,AG,GG		10.9186,4.4485,8.7267	possibly-damaging,possibly-damaging	17/939,17/975	6441376	1135,11871	2203	4300	6503	SO:0001583	missense	83394			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.49C>T	17.37:g.6441376G>A	ENSP00000262483:p.Pro17Ser	Somatic		WXS	SOLID	Phase_I	A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	CCDS11076.1	127	0.05815018315018315	15	0.03048780487804878	28	0.07734806629834254	1	0.0017482517482517483	83	0.10949868073878628	G	18.04	3.534439	0.64972	0.044485	0.109186	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.41065	1.03;1.01	4.89	4.89	0.63831	.	0.182670	0.37219	N	0.002190	T	0.00496	0.0016	N	0.08118	0	0.36580	P	0.12648700000000002	P;P	0.42518	0.782;0.675	B;B	0.41174	0.349;0.19	T	0.08659	-1.0711	9	0.48119	T	0.1	0.2887	13.9315	0.63998	0.0:0.0:1.0:0.0	rs28493751	17;17	F8WEW5;Q9BZ71	.;PITM3_HUMAN	S	17	ENSP00000262483:P17S;ENSP00000407882:P17S	ENSP00000262483:P17S	P	-	1	0	PITPNM3	6382100	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.677000	0.54619	2.439000	0.82584	0.655000	0.94253	CCC		0.552	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2		NM_031220	
PLA2G4E	123745	hgsc.bcm.edu	37	15	42302340	42302340	+	Missense_Mutation	SNP	C	C	G	rs139522193		TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr15:42302340C>G	ENST00000413860.2	-	1	105	c.106G>C	c.(106-108)Ggt>Cgt	p.G36R	CTD-2382E5.2_ENST00000552704.1_RNA|PLA2G4E_ENST00000399518.3_Intron			Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	46					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GCCCCCCCACCCCGGGCCTGG	0.597																																																	0													53.0	67.0	63.0					15																	42302340		1852	4081	5933	SO:0001583	missense	123745				CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000413860.2:c.106G>C	15.37:g.42302340C>G	ENSP00000413897:p.Gly36Arg	Somatic		WXS	SOLID	Phase_I	Q6ZSC0	Missense_Mutation	SNP	ENST00000413860.2	37		.	.	.	.	.	.	.	.	.	.	C	9.381	1.073042	0.20147	.	.	ENSG00000188089	ENST00000413860	T	0.01548	4.78	3.51	-2.03	0.07365	.	.	.	.	.	T	0.01189	0.0039	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.48422	-0.9037	8	0.38643	T	0.18	.	0.5651	0.00686	0.3278:0.308:0.1605:0.2037	.	36	C9JK77	.	R	36	ENSP00000413897:G36R	ENSP00000413897:G36R	G	-	1	0	PLA2G4E	40089632	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.476000	0.02333	-0.398000	0.07679	-0.291000	0.09656	GGT		0.597	PLA2G4E-201	KNOWN	basic	protein_coding	protein_coding			NM_198442	
PPEF2	5470	hgsc.bcm.edu;ucsc.edu	37	4	76805891	76805891	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr4:76805891C>T	ENST00000286719.7	-	8	958	c.602G>A	c.(601-603)cGg>cAg	p.R201Q		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	201	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CACATATGACCGTTCTGGCGA	0.443																																					NSCLC(105;1359 1603 15961 44567 47947)												0													191.0	177.0	182.0					4																	76805891		2203	4300	6503	SO:0001583	missense	5470			AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.602G>A	4.37:g.76805891C>T	ENSP00000286719:p.Arg201Gln	Somatic		WXS	SOLID	Phase_I	O14831	Missense_Mutation	SNP	ENST00000286719.7	37	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464772	0.43736	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	D	0.84370	-1.84	4.84	4.0	0.46444	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	0.210780	0.38778	U	0.001571	T	0.81880	0.4916	L	0.37561	1.115	0.31947	N	0.610199	D;D	0.59357	0.974;0.985	P;P	0.51999	0.687;0.572	T	0.82068	-0.0640	10	0.41790	T	0.15	-3.862	7.2423	0.26104	0.0:0.8073:0.0:0.1927	.	201;201	O14830-2;O14830	.;PPE2_HUMAN	Q	201	ENSP00000286719:R201Q	ENSP00000286719:R201Q	R	-	2	0	PPEF2	77024915	1.000000	0.71417	0.777000	0.31699	0.017000	0.09413	3.388000	0.52509	1.271000	0.44313	0.655000	0.94253	CGG		0.443	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1		NM_006239	
PPP2R5D	5528	hgsc.bcm.edu;ucsc.edu	37	6	42975942	42975942	+	Silent	SNP	C	C	T			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr6:42975942C>T	ENST00000485511.1	+	8	1040	c.861C>T	c.(859-861)ttC>ttT	p.F287F	PPP2R5D_ENST00000394110.3_Silent_p.F255F|PPP2R5D_ENST00000461010.1_Silent_p.F181F|PPP2R5D_ENST00000472118.1_Silent_p.F279F	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	287					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCCTCAGGTTCATCTACGAGA	0.582																																					Melanoma(63;587 1613 29742 31770)												0													142.0	145.0	144.0					6																	42975942		2203	4300	6503	SO:0001819	synonymous_variant	5528			L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.861C>T	6.37:g.42975942C>T		Somatic		WXS	SOLID	Phase_I	A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Silent	SNP	ENST00000485511.1	37	CCDS4878.1	.	.	.	.	.	.	.	.	.	.	C	7.538	0.660103	0.14645	.	.	ENSG00000112640	ENST00000470467	.	.	.	5.84	1.5	0.22942	.	.	.	.	.	T	0.45418	0.1341	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39643	-0.9604	4	.	.	.	-23.3938	10.4646	0.44600	0.0:0.6125:0.0:0.3875	.	.	.	.	Y	207	.	.	H	+	1	0	PPP2R5D	43083920	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	1.569000	0.36428	0.367000	0.24454	-0.150000	0.13652	CAT		0.582	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3		NM_006245	
PSMC2	5701	hgsc.bcm.edu;ucsc.edu	37	7	103004703	103004703	+	Silent	SNP	G	G	T	rs144680798		TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr7:103004703G>T	ENST00000435765.1	+	9	1116	c.705G>T	c.(703-705)gcG>gcT	p.A235A	SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Silent_p.A235A|PSMC2_ENST00000544811.1_Silent_p.A98A	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	235					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						GGACTGATGCGTGCTTCATTC	0.468																																																	0													122.0	114.0	117.0					7																	103004703		2203	4300	6503	SO:0001819	synonymous_variant	5701			D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.705G>T	7.37:g.103004703G>T		Somatic		WXS	SOLID	Phase_I	A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Silent	SNP	ENST00000435765.1	37	CCDS5731.1																																																																																				0.468	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1		NM_002803	
RET	5979	hgsc.bcm.edu	37	10	43602000	43602000	+	Silent	SNP	G	G	C			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr10:43602000G>C	ENST00000355710.3	+	5	1276	c.1044G>C	c.(1042-1044)cgG>cgC	p.R348R	RET_ENST00000340058.5_Silent_p.R348R	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	348					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R348R(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GCTTCGTGCGGGCGACCGTAC	0.647		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	1	Substitution - coding silent(1)	lung(1)											43.0	41.0	41.0					10																	43602000		2203	4299	6502	SO:0001819	synonymous_variant	5979	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1044G>C	10.37:g.43602000G>C		Somatic		WXS	SOLID	Phase_I	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	CCDS7200.1																																																																																				0.647	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2		NM_020975	
RNF40	9810	hgsc.bcm.edu	37	16	30773995	30773995	+	Silent	SNP	C	C	A			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr16:30773995C>A	ENST00000324685.6	+	2	564	c.129C>A	c.(127-129)tcC>tcA	p.S43S	C16orf93_ENST00000543610.1_5'UTR|RNF40_ENST00000357890.5_Silent_p.S43S|RNF40_ENST00000402121.3_Silent_p.S43S|C16orf93_ENST00000545825.1_5'Flank|RNF40_ENST00000563683.1_Silent_p.S43S|C16orf93_ENST00000541260.1_5'Flank	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	43					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GCATCTCTTCCACGGTTCGTG	0.582																																																	0													61.0	56.0	58.0					16																	30773995		2197	4300	6497	SO:0001819	synonymous_variant	9810			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.129C>A	16.37:g.30773995C>A		Somatic		WXS	SOLID	Phase_I	Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Silent	SNP	ENST00000324685.6	37	CCDS10691.1																																																																																				0.582	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2		NM_014771	
RUNX2	860	hgsc.bcm.edu	37	6	45514873	45514873	+	Missense_Mutation	SNP	C	C	A	rs144852234		TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr6:45514873C>A	ENST00000371438.1	+	8	1755	c.1397C>A	c.(1396-1398)cCt>cAt	p.P466H	RUNX2_ENST00000359524.5_Missense_Mutation_p.P452H|RUNX2_ENST00000465038.2_Missense_Mutation_p.P466H|RUNX2_ENST00000371436.6_Missense_Mutation_p.P444H|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000371432.3_Missense_Mutation_p.P430H|RUNX2_ENST00000352853.5_Missense_Mutation_p.P534H|RUNX2_ENST00000541979.1_Missense_Mutation_p.P512H	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	466	Interaction with KAT6B.|Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P466L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GACCGGTCTCCTTCCAGAATG	0.532																																																	1	Substitution - Missense(1)	skin(1)											92.0	84.0	87.0					6																	45514873		2203	4300	6503	SO:0001583	missense	860			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.1397C>A	6.37:g.45514873C>A	ENSP00000360493:p.Pro466His	Somatic		WXS	SOLID	Phase_I	O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	C	19.81	3.895753	0.72639	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.77	5.77	0.91146	Runx inhibition (1);	0.000000	0.85682	D	0.000000	T	0.70876	0.3274	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	T	0.72004	-0.4421	10	0.87932	D	0	-6.17	20.3627	0.98863	0.0:1.0:0.0:0.0	.	512;466;452	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	H	466;534;512;466;444;452;430	ENSP00000420707:P466H;ENSP00000319087:P534H;ENSP00000446290:P512H;ENSP00000360493:P466H;ENSP00000360491:P444H;ENSP00000352514:P452H;ENSP00000360486:P430H	ENSP00000319087:P534H	P	+	2	0	RUNX2	45622851	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.885000	0.99019	0.655000	0.94253	CCT		0.532	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2		NM_004348	
SETD5	55209	hgsc.bcm.edu;ucsc.edu	37	3	9482172	9482172	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr3:9482172G>C	ENST00000406341.1	+	7	790	c.600G>C	c.(598-600)gaG>gaC	p.E200D	SETD5_ENST00000402198.1_Missense_Mutation_p.E200D|SETD5_ENST00000407969.1_Missense_Mutation_p.E219D|SETD5_ENST00000402466.1_Missense_Mutation_p.E102D|SETD5_ENST00000302463.6_Missense_Mutation_p.E102D			Q9C0A6	SETD5_HUMAN	SET domain containing 5	200										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ATTTAGATGAGAATACAACTG	0.433																																																	0													57.0	54.0	55.0					3																	9482172		1830	4073	5903	SO:0001583	missense	55209			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.600G>C	3.37:g.9482172G>C	ENSP00000383939:p.Glu200Asp	Somatic		WXS	SOLID	Phase_I	Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511849	0.64522	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000442373;ENST00000302463	D;D;D;D;T;D	0.92911	-2.77;-3.13;-2.77;-2.76;0.89;-3.13	5.24	3.42	0.39159	.	0.000000	0.85682	D	0.000000	D	0.90611	0.7056	L	0.27053	0.805	0.41548	D	0.98855	D;D;B	0.76494	0.999;0.994;0.22	D;D;B	0.77557	0.99;0.97;0.235	D	0.85583	0.1241	10	0.09843	T	0.71	-5.7115	9.421	0.38550	0.2551:0.0:0.7449:0.0	.	102;200;219	Q9C0A6-3;Q9C0A6;E7EWN3	.;SETD5_HUMAN;.	D	200;102;200;219;89;102	ENSP00000385852:E200D;ENSP00000384429:E102D;ENSP00000383939:E200D;ENSP00000384114:E219D;ENSP00000408837:E89D;ENSP00000302028:E102D	ENSP00000302028:E102D	E	+	3	2	SETD5	9457172	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.124000	0.50461	0.696000	0.31696	0.563000	0.77884	GAG		0.433	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1		XM_371614	
SHROOM2	357	hgsc.bcm.edu	37	X	9900830	9900830	+	Silent	SNP	G	G	T			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chrX:9900830G>T	ENST00000380913.3	+	6	3597	c.3507G>T	c.(3505-3507)tcG>tcT	p.S1169S	SHROOM2_ENST00000418909.2_Silent_p.S4S|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1169					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TGGAGACCTCGCGCTCCCCCT	0.642																																																	0													43.0	40.0	41.0					X																	9900830		2203	4299	6502	SO:0001819	synonymous_variant	357			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3507G>T	X.37:g.9900830G>T		Somatic		WXS	SOLID	Phase_I	B9EIQ7	Silent	SNP	ENST00000380913.3	37	CCDS14135.1																																																																																				0.642	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1		NM_001649	
SLC5A9	200010	hgsc.bcm.edu;ucsc.edu	37	1	48694801	48694801	+	Intron	SNP	C	C	T			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr1:48694801C>T	ENST00000438567.2	+	4	391				SLC5A9_ENST00000236495.5_Silent_p.D122D|SLC5A9_ENST00000533824.1_Silent_p.D122D|RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000420136.2_Intron	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9						sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						ctggaggagacagagggatcc	0.532																																																	0													137.0	147.0	143.0					1																	48694801		2203	4300	6503	SO:0001627	intron_variant	200010			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.340-166C>T	1.37:g.48694801C>T		Somatic		WXS	SOLID	Phase_I	B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Silent	SNP	ENST00000438567.2	37	CCDS30709.2																																																																																				0.532	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3		XM_117174	
SLC6A1	6529	hgsc.bcm.edu;ucsc.edu	37	3	11067963	11067963	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr3:11067963G>A	ENST00000287766.4	+	10	1417	c.996G>A	c.(994-996)atG>atA	p.M332I	SLC6A1_ENST00000536032.1_Missense_Mutation_p.M154I	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	332					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	GCACCAGCATGTTCGCAGGAT	0.572																																																	0													201.0	172.0	182.0					3																	11067963		2203	4300	6503	SO:0001583	missense	6529				CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.996G>A	3.37:g.11067963G>A	ENSP00000287766:p.Met332Ile	Somatic		WXS	SOLID	Phase_I	Q8N4K8	Missense_Mutation	SNP	ENST00000287766.4	37	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069746	0.55539	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.72835	-0.69;-0.69	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.55162	0.1903	N	0.05534	-0.03	0.80722	D	1	B	0.22480	0.07	B	0.23419	0.046	T	0.50651	-0.8803	10	0.33940	T	0.23	.	19.4739	0.94976	0.0:0.0:1.0:0.0	.	332	P30531	SC6A1_HUMAN	I	332;154	ENSP00000287766:M332I;ENSP00000445171:M154I	ENSP00000287766:M332I	M	+	3	0	SLC6A1	11042963	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.363000	0.73082	2.697000	0.92050	0.655000	0.94253	ATG		0.572	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2		NM_003042	
SPTBN5	51332	hgsc.bcm.edu	37	15	42179542	42179542	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr15:42179542G>T	ENST00000320955.6	-	6	984	c.757C>A	c.(757-759)Cag>Aag	p.Q253K		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	253	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCCAGCAGCTGAGCAATGCCC	0.612																																																	0													19.0	25.0	23.0					15																	42179542		2039	4084	6123	SO:0001583	missense	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.757C>A	15.37:g.42179542G>T	ENSP00000317790:p.Gln253Lys	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000320955.6	37		.	.	.	.	.	.	.	.	.	.	G	2.350	-0.349054	0.05208	.	.	ENSG00000137877	ENST00000320955	D	0.94723	-3.5	4.58	3.56	0.40772	Calponin homology domain (5);	0.346769	0.22196	N	0.063320	T	0.78923	0.4360	N	0.00237	-1.79	0.09310	N	1	P	0.35684	0.515	B	0.42319	0.383	T	0.75099	-0.3437	10	0.02654	T	1	.	11.4041	0.49887	0.0:0.0:0.6828:0.3172	.	253	Q9NRC6	SPTN5_HUMAN	K	253	ENSP00000317790:Q253K	ENSP00000317790:Q253K	Q	-	1	0	SPTBN5	39966834	0.170000	0.23016	0.928000	0.36995	0.648000	0.38561	1.616000	0.36933	2.102000	0.63906	0.655000	0.94253	CAG		0.612	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1		NM_016642	
SRP68	6730	hgsc.bcm.edu;ucsc.edu	37	17	74053509	74053509	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr17:74053509G>C	ENST00000307877.2	-	8	1114	c.953C>G	c.(952-954)gCt>gGt	p.A318G	SRP68_ENST00000539137.1_Missense_Mutation_p.A280G|SRP68_ENST00000355113.5_Missense_Mutation_p.A217G	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	318					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TTCGTTATCAGCCAGTCCTAA	0.473																																																	0													204.0	170.0	181.0					17																	74053509		2203	4300	6503	SO:0001583	missense	6730			AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.953C>G	17.37:g.74053509G>C	ENSP00000312066:p.Ala318Gly	Somatic		WXS	SOLID	Phase_I	B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668834	0.47677	.	.	ENSG00000167881	ENST00000411758;ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.63593	0.2524	L	0.54323	1.7	0.80722	D	1	P;P	0.51933	0.949;0.949	P;P	0.49085	0.6;0.6	T	0.61446	-0.7061	9	0.37606	T	0.19	-15.2221	19.6893	0.95993	0.0:0.0:1.0:0.0	.	280;318	G3V1U4;Q9UHB9	.;SRP68_HUMAN	G	58;280;318;318;287;217	.	ENSP00000307756:A287G	A	-	2	0	SRP68	71565104	1.000000	0.71417	0.718000	0.30602	0.053000	0.15095	7.388000	0.79795	2.729000	0.93468	0.655000	0.94253	GCT		0.473	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1		NM_014230	
SRRM2	23524	hgsc.bcm.edu;ucsc.edu	37	16	2807887	2807887	+	Silent	SNP	T	T	C			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr16:2807887T>C	ENST00000301740.8	+	4	1005	c.456T>C	c.(454-456)gaT>gaC	p.D152D		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	152					mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						gctcttttGATCCTCAGCGTC	0.478																																																	0													92.0	91.0	91.0					16																	2807887		2198	4300	6498	SO:0001819	synonymous_variant	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.456T>C	16.37:g.2807887T>C		Somatic		WXS	SOLID	Phase_I	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	CCDS32373.1																																																																																				0.478	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			
SRRT	51593	hgsc.bcm.edu	37	7	100478987	100478987	+	Silent	SNP	A	A	G			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr7:100478987A>G	ENST00000347433.4	+	3	362	c.204A>G	c.(202-204)ccA>ccG	p.P68P	SRRT_ENST00000432932.1_Silent_p.P68P|SRRT_ENST00000388793.4_Silent_p.P68P|SRRT_ENST00000457580.2_Silent_p.P68P			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	68	Arg-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GCTTCTCGCCACCTCGCCACG	0.612																																																	0													54.0	51.0	52.0					7																	100478987		2203	4300	6503	SO:0001819	synonymous_variant	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.204A>G	7.37:g.100478987A>G		Somatic		WXS	SOLID	Phase_I	A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	ENST00000347433.4	37	CCDS34709.1																																																																																				0.612	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1		NM_015908	
STX16	8675	hgsc.bcm.edu;ucsc.edu	37	20	57251251	57251251	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr20:57251251G>T	ENST00000371141.4	+	9	1606	c.882G>T	c.(880-882)caG>caT	p.Q294H	STX16_ENST00000355957.5_Missense_Mutation_p.Q277H|STX16_ENST00000371132.4_Missense_Mutation_p.Q273H|STX16_ENST00000358029.4_Missense_Mutation_p.Q290H|STX16_ENST00000359617.4_Missense_Mutation_p.Q241H|STX16_ENST00000361830.3_Missense_Mutation_p.Q294H|STX16-NPEPL1_ENST00000530122.1_Intron|STX16_ENST00000361770.5_Missense_Mutation_p.Q277H	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	294					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			AGGCAGAACAGTATCAAAAGA	0.418																																																	0													195.0	195.0	195.0					20																	57251251		2203	4300	6503	SO:0001583	missense	8675			AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.882G>T	20.37:g.57251251G>T	ENSP00000360183:p.Gln294His	Somatic		WXS	SOLID	Phase_I	A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Missense_Mutation	SNP	ENST00000371141.4	37	CCDS13468.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717999	0.68844	.	.	ENSG00000124222	ENST00000355957;ENST00000361770;ENST00000359617;ENST00000371141;ENST00000371138;ENST00000371132;ENST00000358029;ENST00000361830;ENST00000438253;ENST00000435446	T;T;T;T;T;T;T	0.64438	0.88;0.88;-0.1;0.88;0.89;0.88;0.88	5.74	4.79	0.61399	Target SNARE coiled-coil domain (1);	.	.	.	.	T	0.68961	0.3058	L	0.45698	1.435	0.58432	D	0.999999	P;D;B;P	0.64830	0.489;0.994;0.442;0.881	P;D;B;P	0.63597	0.474;0.916;0.219;0.866	T	0.68857	-0.5298	9	0.45353	T	0.12	.	10.4685	0.44622	0.1643:0.0:0.8357:0.0	.	290;277;273;294	Q6GMS8;O14662-4;O14662-2;O14662	.;.;.;STX16_HUMAN	H	277;277;241;294;241;273;290;294;188;108	ENSP00000348229:Q277H;ENSP00000355408:Q277H;ENSP00000352634:Q241H;ENSP00000360183:Q294H;ENSP00000360173:Q273H;ENSP00000350723:Q290H;ENSP00000354445:Q294H	ENSP00000360180:Q241H	Q	+	3	2	STX16	56684657	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.845000	0.27668	1.562000	0.49601	0.563000	0.77884	CAG		0.418	STX16-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080517.2		NM_001001433	
TLR8	51311	hgsc.bcm.edu;ucsc.edu	37	X	12937362	12937362	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chrX:12937362T>C	ENST00000218032.6	+	2	290	c.203T>C	c.(202-204)cTa>cCa	p.L68P	TLR8_ENST00000311912.5_Missense_Mutation_p.L86P	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	68					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	GTGACAGAACTAGACCTGTCT	0.403																																																	0													107.0	98.0	101.0					X																	12937362		2203	4300	6503	SO:0001583	missense	51311			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.203T>C	X.37:g.12937362T>C	ENSP00000218032:p.Leu68Pro	Somatic		WXS	SOLID	Phase_I	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.838821	0.51057	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.80566	-1.39;-1.39	5.17	5.17	0.71159	.	0.905860	0.08960	N	0.868777	D	0.93963	0.8067	H	0.98027	4.13	0.58432	D	0.999993	D;D	0.69078	0.997;0.997	D;D	0.69824	0.966;0.966	D	0.92113	0.5697	10	0.87932	D	0	.	14.2243	0.65848	0.0:0.0:0.0:1.0	.	68;86	Q9NR97;D1CS70	TLR8_HUMAN;.	P	68;86	ENSP00000218032:L68P;ENSP00000312082:L86P	ENSP00000218032:L68P	L	+	2	0	TLR8	12847283	0.968000	0.33430	0.460000	0.27093	0.293000	0.27360	7.591000	0.82666	1.736000	0.51660	0.425000	0.28330	CTA		0.403	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2		NM_016610	
TNFRSF11B	4982	hgsc.bcm.edu;ucsc.edu	37	8	119938824	119938824	+	Silent	SNP	C	C	T			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr8:119938824C>T	ENST00000297350.4	-	4	1104	c.726G>A	c.(724-726)cgG>cgA	p.R242R		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	242	Death 1.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			AGCTGTGTTGCCGTTTTATCC	0.413																																																	0													242.0	227.0	232.0					8																	119938824		2203	4300	6503	SO:0001819	synonymous_variant	4982			U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.726G>A	8.37:g.119938824C>T		Somatic		WXS	SOLID	Phase_I	B2R9A8|O60236|Q53FX6|Q9UHP4	Silent	SNP	ENST00000297350.4	37	CCDS6326.1																																																																																				0.413	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1			
TRAF5	7188	hgsc.bcm.edu	37	1	211545632	211545632	+	Missense_Mutation	SNP	T	T	A	rs78225734		TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr1:211545632T>A	ENST00000261464.5	+	11	1316	c.1262T>A	c.(1261-1263)gTg>gAg	p.V421E	TRAF5_ENST00000336184.2_Missense_Mutation_p.V421E|TRAF5_ENST00000427925.2_Missense_Mutation_p.V315E|TRAF5_ENST00000367004.3_Missense_Mutation_p.V421E	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	421	Interaction with EIF2AK2/PKR.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		AGAGAGGCGGTGGATGGGCAC	0.498																																																	0													101.0	107.0	105.0					1																	211545632		2203	4300	6503	SO:0001583	missense	7188			AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"""RING-type (C3HC4) zinc fingers"""	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.1262T>A	1.37:g.211545632T>A	ENSP00000261464:p.Val421Glu	Somatic		WXS	SOLID	Phase_I	B4DIS9|B4E0A2|Q6FHY1	Missense_Mutation	SNP	ENST00000261464.5	37	CCDS1497.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.674625	0.47781	.	.	ENSG00000082512	ENST00000336184;ENST00000427925;ENST00000261464;ENST00000367004	T;T;T;T	0.35605	2.16;1.3;2.16;2.16	5.16	4.02	0.46733	TRAF-type (1);TRAF-like (1);MATH (2);	0.564345	0.18954	N	0.126613	T	0.24084	0.0583	N	0.17594	0.5	0.32617	N	0.523861	P;P;B	0.37038	0.51;0.579;0.134	B;B;B	0.41088	0.229;0.347;0.174	T	0.15694	-1.0428	10	0.12766	T	0.61	-10.6894	11.4983	0.50422	0.0:0.0742:0.0:0.9258	.	315;432;421	F5H1P7;B4E0A2;O00463	.;.;TRAF5_HUMAN	E	421;315;421;421	ENSP00000336825:V421E;ENSP00000389891:V315E;ENSP00000261464:V421E;ENSP00000355971:V421E	ENSP00000261464:V421E	V	+	2	0	TRAF5	209612255	1.000000	0.71417	0.933000	0.37362	0.912000	0.54170	3.163000	0.50763	2.072000	0.62099	0.528000	0.53228	GTG		0.498	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1		NM_004619	
TRO	7216	hgsc.bcm.edu	37	X	54950147	54950147	+	Silent	SNP	G	G	C			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chrX:54950147G>C	ENST00000173898.7	+	3	1294	c.1182G>C	c.(1180-1182)ctG>ctC	p.L394L	TRO_ENST00000484031.1_Intron|TRO_ENST00000375041.2_Intron|TRO_ENST00000420798.2_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000319167.8_Silent_p.L394L|TRO_ENST00000375022.4_Silent_p.L394L	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	394					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ATGACTATCTGGCTCAGTTGA	0.547																																																	0													35.0	41.0	39.0					X																	54950147		1943	4131	6074	SO:0001819	synonymous_variant	7216			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1182G>C	X.37:g.54950147G>C		Somatic		WXS	SOLID	Phase_I	B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	ENST00000173898.7	37	CCDS43959.1																																																																																				0.547	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3		NM_016157	
TRPM1	4308	hgsc.bcm.edu	37	15	31318395	31318395	+	Silent	SNP	C	C	T			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr15:31318395C>T	ENST00000256552.6	-	27	3723	c.3576G>A	c.(3574-3576)aaG>aaA	p.K1192K	TRPM1_ENST00000397795.2_Silent_p.K1170K|TRPM1_ENST00000542188.1_Silent_p.K1209K|RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.K1170K(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GCTCATCCTCCTTCTCCCGGA	0.602																																																	1	Substitution - coding silent(1)	ovary(1)											58.0	61.0	60.0					15																	31318395		2127	4242	6369	SO:0001819	synonymous_variant	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3576G>A	15.37:g.31318395C>T		Somatic		WXS	SOLID	Phase_I		Silent	SNP	ENST00000256552.6	37	CCDS58346.1																																																																																				0.602	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2		NM_002420	
TSR1	55720	hgsc.bcm.edu;ucsc.edu	37	17	2238608	2238608	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr17:2238608T>A	ENST00000301364.5	-	4	1581	c.502A>T	c.(502-504)Agc>Tgc	p.S168C	TSR1_ENST00000576112.2_Missense_Mutation_p.S168C|SGSM2_ENST00000426855.2_5'Flank|SGSM2_ENST00000574563.1_5'Flank|SGSM2_ENST00000268989.3_5'Flank	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	168	Bms1-type G.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						TCACCGGTGCTGTCCCAGCCT	0.473																																																	0													108.0	87.0	94.0					17																	2238608		2203	4300	6503	SO:0001583	missense	55720			AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"""TSR1, 20S rRNA accumulation, homolog (yeast)"""			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.502A>T	17.37:g.2238608T>A	ENSP00000301364:p.Ser168Cys	Somatic		WXS	SOLID	Phase_I	Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP	ENST00000301364.5	37	CCDS32525.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.439720	0.83885	.	.	ENSG00000167721	ENST00000301364	T	0.50813	0.73	5.84	5.84	0.93424	.	0.152084	0.64402	D	0.000001	T	0.54191	0.1843	M	0.76002	2.32	0.49915	D	0.999833	P	0.49783	0.928	P	0.44359	0.447	T	0.61292	-0.7092	10	0.59425	D	0.04	-8.046	15.4114	0.74923	0.0:0.0:0.0:1.0	.	168	Q2NL82	TSR1_HUMAN	C	168	ENSP00000301364:S168C	ENSP00000301364:S168C	S	-	1	0	TSR1	2185358	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.782000	0.55401	2.228000	0.72767	0.533000	0.62120	AGC		0.473	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2		NM_018128	
USP51	158880	hgsc.bcm.edu	37	X	55513337	55513337	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chrX:55513337C>T	ENST00000500968.3	-	2	2118	c.2036G>A	c.(2035-2037)aGc>aAc	p.S679N	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	679	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						ATCATCACAGCTGAACCACTG	0.433																																																	0													104.0	89.0	94.0					X																	55513337		2203	4300	6503	SO:0001583	missense	158880			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.2036G>A	X.37:g.55513337C>T	ENSP00000423333:p.Ser679Asn	Somatic		WXS	SOLID	Phase_I	Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	14.17	2.455387	0.43634	.	.	ENSG00000247746	ENST00000500968	T	0.30182	1.54	2.88	2.88	0.33553	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.103999	0.64402	U	0.000006	T	0.20292	0.0488	N	0.11341	0.13	0.28640	N	0.907204	P	0.47106	0.89	P	0.50270	0.636	T	0.02505	-1.1149	10	0.46703	T	0.11	.	5.1885	0.15197	0.0:0.8354:0.0:0.1646	.	679	Q70EK9	UBP51_HUMAN	N	679	ENSP00000423333:S679N	ENSP00000423333:S679N	S	-	2	0	USP51	55530062	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.162000	0.50755	1.720000	0.51447	0.502000	0.49764	AGC		0.433	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2		NM_201286	
ZFP28	140612	hgsc.bcm.edu;ucsc.edu	37	19	57065085	57065085	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr19:57065085T>C	ENST00000301318.3	+	8	1002	c.931T>C	c.(931-933)Ttt>Ctt	p.F311L	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	311					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)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		CCAGGAATTATTTCCAAAGCA	0.393																																					Ovarian(124;554 1662 19430 21141 52494)												0													69.0	64.0	65.0					19																	57065085		2203	4300	6503	SO:0001583	missense	140612				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.931T>C	19.37:g.57065085T>C	ENSP00000301318:p.Phe311Leu	Somatic		WXS	SOLID	Phase_I	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	T	2.407	-0.336267	0.05278	.	.	ENSG00000196867	ENST00000301318	T	0.04194	3.68	4.82	-0.775	0.10988	.	0.699408	0.12536	N	0.460353	T	0.01421	0.0046	N	0.02275	-0.615	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.47497	-0.9113	10	0.10636	T	0.68	.	1.3676	0.02204	0.1382:0.2509:0.1411:0.4698	.	311	Q8NHY6	ZFP28_HUMAN	L	311	ENSP00000301318:F311L	ENSP00000301318:F311L	F	+	1	0	ZFP28	61756897	0.000000	0.05858	0.407000	0.26434	0.815000	0.46073	-0.566000	0.05922	0.137000	0.18759	0.533000	0.62120	TTT		0.393	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1		NM_020828	
ZNF589	51385	hgsc.bcm.edu	37	3	48310107	48310107	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr3:48310107G>A	ENST00000354698.3	+	4	998	c.926G>A	c.(925-927)tGt>tAt	p.C309Y	ZNF589_ENST00000440261.2_Intron|ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000427617.2_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	309					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCAGCCATTGTGGGCGAGGC	0.527																																					Colon(9;319 328 25374 27611 50948)												0													59.0	65.0	63.0					3																	48310107		2178	4296	6474	SO:0001583	missense	51385			AF114816	CCDS43085.1	3p21	2013-01-08			ENSG00000164048	ENSG00000164048		"""Zinc fingers, C2H2-type"", ""-"""	16747	protein-coding gene	gene with protein product						10029171	Standard	NM_016089		Approved	SZF1	uc003csl.4	Q86UQ0	OTTHUMG00000156833	ENST00000354698.3:c.926G>A	3.37:g.48310107G>A	ENSP00000346729:p.Cys309Tyr	Somatic		WXS	SOLID	Phase_I	Q86UC9|Q9BRI6|Q9BRY3|Q9Y611|Q9Y612	Missense_Mutation	SNP	ENST00000354698.3	37	CCDS43085.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845236	0.51164	.	.	ENSG00000164048	ENST00000354698;ENST00000296437	D	0.85861	-2.04	1.17	1.17	0.20885	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92456	0.7605	M	0.92833	3.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91584	0.5281	9	0.87932	D	0	.	8.2378	0.31636	0.0:0.0:1.0:0.0	.	306;309	Q86UQ0-2;Q86UQ0	.;ZN589_HUMAN	Y	309;306	ENSP00000346729:C309Y	ENSP00000296437:C306Y	C	+	2	0	ZNF589	48285111	1.000000	0.71417	0.090000	0.20809	0.056000	0.15407	5.341000	0.65964	0.978000	0.38470	0.411000	0.27672	TGT		0.527	ZNF589-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346124.1		NM_016089	
ZNF687	57592	hgsc.bcm.edu	37	1	151259273	151259273	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr1:151259273A>G	ENST00000368879.2	+	2	604	c.506A>G	c.(505-507)gAg>gGg	p.E169G		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	169	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTTGGCCCTGAGCCAGGGGAC	0.617																																																	0													48.0	52.0	51.0					1																	151259273		2203	4300	6503	SO:0001583	missense	57592				CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.506A>G	1.37:g.151259273A>G	ENSP00000357874:p.Glu169Gly	Somatic		WXS	SOLID	Phase_I	D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	37		.	.	.	.	.	.	.	.	.	.	A	13.77	2.336994	0.41398	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.00932	5.53;5.53;5.87	4.65	4.65	0.58169	.	0.000000	0.35739	N	0.003014	T	0.01189	0.0039	L	0.29908	0.895	0.33636	D	0.606619	D;D;D	0.76494	0.999;0.99;0.999	D;P;D	0.78314	0.991;0.868;0.991	T	0.70040	-0.4981	9	.	.	.	.	13.1788	0.59642	1.0:0.0:0.0:0.0	.	169;169;169	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	G	169	ENSP00000336620:E169G;ENSP00000319829:E169G;ENSP00000357874:E169G	.	E	+	2	0	ZNF687	149525897	1.000000	0.71417	0.984000	0.44739	0.183000	0.23260	5.299000	0.65716	1.958000	0.56883	0.379000	0.24179	GAG		0.617	ZNF687-201	KNOWN	basic	protein_coding	protein_coding			NM_020832	
ZNF768	79724	hgsc.bcm.edu;ucsc.edu	37	16	30536622	30536622	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr16:30536622T>A	ENST00000380412.5	-	2	1014	c.839A>T	c.(838-840)cAg>cTg	p.Q280L	ZNF768_ENST00000562803.1_Missense_Mutation_p.Q249L	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	280					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GTGGATGCGCTGGTGCTGGAT	0.657																																																	0													66.0	65.0	65.0					16																	30536622		2197	4300	6497	SO:0001583	missense	79724			BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.839A>T	16.37:g.30536622T>A	ENSP00000369777:p.Gln280Leu	Somatic		WXS	SOLID	Phase_I	Q569L7|Q96CX4	Missense_Mutation	SNP	ENST00000380412.5	37	CCDS10681.2	.	.	.	.	.	.	.	.	.	.	T	16.48	3.135608	0.56828	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.05580	3.42	4.99	4.99	0.66335	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44688	D	0.000425	T	0.03608	0.0103	N	0.13352	0.335	0.33715	D	0.616285	B	0.29552	0.248	B	0.20384	0.029	T	0.16958	-1.0385	10	0.62326	D	0.03	-13.1347	6.1078	0.20084	0.0:0.1773:0.0:0.8227	.	280	Q9H5H4	ZN768_HUMAN	L	280;249	ENSP00000369777:Q280L	ENSP00000369777:Q280L	Q	-	2	0	ZNF768	30444123	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.244000	0.43124	2.102000	0.63906	0.379000	0.24179	CAG		0.657	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2		NM_024671	
ZP3	7784	hgsc.bcm.edu	37	7	76071183	76071184	+	Frame_Shift_Ins	INS	-	-	G	rs375263236		TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr7:76071183_76071184insG	ENST00000394857.3	+	8	1143_1144	c.1085_1086insG	c.(1084-1089)gtggggfs	p.VG362fs	ZP3_ENST00000467555.1_3'UTR|ZP3_ENST00000336517.4_Frame_Shift_Ins_p.VG311fs|ZP3_ENST00000416245.1_Frame_Shift_Ins_p.VG186fs	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	362					binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						GATGTCACCGTGGGGCCACTGA	0.545																																																	0																																										SO:0001589	frameshift_variant	7784			M60504	CCDS5586.1, CCDS47618.1	7q11.23	2014-07-04	2002-09-17	2002-09-20	ENSG00000188372	ENSG00000188372		"""Zona pellucida glycoproteins"""	13189	protein-coding gene	gene with protein product		182889	"""zona pellucida glycoprotein 3A (sperm receptor)"""	ZP3A, ZP3B		1478648	Standard	NM_007155		Approved	ZP3-424, ZP3-372, ZPC	uc003ufd.4	P21754	OTTHUMG00000130575	ENST00000394857.3:c.1089dupG	7.37:g.76071187_76071187dupG	ENSP00000378326:p.Val362fs	Somatic		WXS	SOLID	Phase_I	Q06633|Q29RW0	Frame_Shift_Ins	INS	ENST00000394857.3	37	CCDS47618.1																																																																																				0.545	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253004.1			
PBRM1	55193	ucsc.edu	37	3	52649466	52649467	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-BP-4158-01A-02D-1366-10	TCGA-BP-4158-11A-01D-1366-10	TA	TA	TA	-	TA	TA	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	f134476d-8b3f-43f0-b287-67fa99b5a27f	c6d4b1c9-6267-4655-ae94-3cdc7c8e203e	g.chr3:52649466_52649467delTA	ENST00000296302.7	-	15	1825_1826	c.1824_1825delTA	c.(1822-1827)tataatfs	p.YN608fs	PBRM1_ENST00000356770.4_Frame_Shift_Del_p.YN576fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.YN608fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.YN623fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.YN608fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.YN623fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.YN608fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.YN608fs			Q86U86	PB1_HUMAN	polybromo 1	608	Bromo 4. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			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)		TGTGCATCATTATAAACCTACA	0.347			"""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.1824_1825delTA	3.37:g.52649468_52649469delTA	ENSP00000296302:p.Tyr608fs	Somatic		WXS	SOLID	.	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.347	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
