#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_IGV	i_Mutation_Status	i_NTotCov_SOL	i_NVaf_SOL	i_NVarCov_SOL	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_TTotCov_SOL	i_TVaf_SOL	i_TVarCov_SOL	i_Transcript_Id	i_Ttot_rna	i_Tvaf_rna	i_Tvar_rna	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNPPopFreq	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_germline-maf-frequency	i_havana_transcript	i_note	i_refseq_mrna_id	i_secondary_variant_classification
CHD5	26038	mdanderson.org	37	1	6185281	6185281	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr1:6185281T>C	ENST00000262450.3	-	29	4372	c.4273A>G	c.(4273-4275)Aat>Gat	p.N1425D	CHD5_ENST00000378021.1_Missense_Mutation_p.N282D	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGTCGGGCATTGAAGCCCAGC	0.642																																					p.N1425D													.	.			0			c.A4273G												29.0	33.0	31.0					1																	6185281		2203	4300	6503	SO:0001583	missense	26038	exon29			GGGCATTGAAGCC	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.4273A>G	1.37:g.6185281T>C	ENSP00000262450:p.Asn1425Asp		Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	51	0.06	3	NM_015557	0		0	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.483698	0.84854	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000378021;ENST00000536802;ENST00000538279;ENST00000377999	D;T	0.92965	-3.14;1.87	4.5	4.5	0.54988	Domain of unknown function DUF1086 (1);	0.000000	0.85682	D	0.000000	D	0.95739	0.8614	M	0.80422	2.495	0.58432	D	0.999995	D;D	0.69078	0.997;0.991	D;D	0.77004	0.989;0.953	D	0.96314	0.9231	10	0.87932	D	0	-19.407	14.1146	0.65144	0.0:0.0:0.0:1.0	.	1425;282	Q8TDI0;Q5TG85	CHD5_HUMAN;.	D	1425;941;282;833;833;282	ENSP00000262450:N1425D;ENSP00000367260:N282D	ENSP00000262450:N1425D	N	-	1	0	CHD5	6107868	1.000000	0.71417	0.985000	0.45067	0.393000	0.30537	7.581000	0.82535	1.802000	0.52723	0.459000	0.35465	AAT			0.642	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000002823.2		NM_015557	
VWA5B1	127731	broad.mit.edu	37	1	20669623	20669623	+	Missense_Mutation	SNP	A	A	C			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr1:20669623A>C	ENST00000375079.2	+	16	2559	c.2363A>C	c.(2362-2364)gAc>gCc	p.D788A	VWA5B1_ENST00000289815.8_Missense_Mutation_p.D788A|VWA5B1_ENST00000375083.4_Missense_Mutation_p.D788A|VWA5B1_ENST00000525343.1_3'UTR	NM_001039500.2	NP_001034589.2	Q5TIE3	VW5B1_HUMAN	von Willebrand factor A domain containing 5B1	788						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)|kidney(1)|prostate(1)|skin(1)	7						TCGGACTGGGACCCCCCAGCC	0.701																																					p.D788A													.	VWA5B1	44		0			c.A2363C												7.0	11.0	10.0					1																	20669623		683	1575	2258	SO:0001583	missense	127731	exon16			ACTGGGACCCCCC	AK125833, AK057346		1p36.12	2014-02-12			ENSG00000158816	ENSG00000158816			26538	protein-coding gene	gene with protein product							Standard	NM_001039500		Approved	FLJ32784	uc009vps.2	Q5TIE3	OTTHUMG00000002835	ENST00000375079.2:c.2363A>C	1.37:g.20669623A>C	ENSP00000364220:p.Asp788Ala		Somatic	91	0.2307692308	21		WXS	Illumina HiSeq	Phase_I	165	0.17	28	NM_001039500	0		0	A4IF35|A4IF36|Q3ZCM4|Q6ZUB4|Q96M71	Missense_Mutation	SNP	ENST00000375079.2	37		.	.	.	.	.	.	.	.	.	.	a	13.40	2.227098	0.39399	.	.	ENSG00000158816	ENST00000375089;ENST00000289815;ENST00000375083;ENST00000375079	T;T;T	0.13420	2.59;2.59;2.59	3.89	3.89	0.44902	.	1.579240	0.03851	U	0.272332	T	0.12646	0.0307	N	0.19112	0.55	0.80722	D	1	B;B;B	0.14012	0.0;0.009;0.004	B;B;B	0.14023	0.001;0.01;0.01	T	0.08806	-1.0704	10	0.72032	D	0.01	0.5451	10.1452	0.42760	1.0:0.0:0.0:0.0	.	788;788;788	Q5TIE3;Q5TIE3-5;Q5TIE3-2	VW5B1_HUMAN;.;.	A	788	ENSP00000289815:D788A;ENSP00000364224:D788A;ENSP00000364220:D788A	ENSP00000289815:D788A	D	+	2	0	VWA5B1	20542210	1.000000	0.71417	0.914000	0.36105	0.097000	0.18754	4.551000	0.60740	1.398000	0.46701	0.139000	0.15985	GAC			0.701	VWA5B1-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000007945.4		XM_001722222	
AIM1L	55057	hgsc.bcm.edu	37	1	26671719	26671719	+	5'Flank	SNP	C	C	T	rs201245727		TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr1:26671719C>T	ENST00000308182.5	-	0	0				AIM1L_ENST00000527815.1_5'Flank			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like								carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CACCTCCTTCCGGGTGGGAGA	0.607																																					p.R477Q													.	.			0			c.G1430A												27.0	31.0	30.0					1																	26671719		1985	4162	6147	SO:0001631	upstream_gene_variant	55057	exon2			TCCTTCCGGGTGG			1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"""beta-gamma crystallin domain containing 2"""						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490		1.37:g.26671719C>T	Exception_encountered		Somatic	23	0	0		WXS	Illumina HiSeq	.	43	0.16	7	NM_001039775	0		0	B2RNG3|Q5T137|Q5T150	Missense_Mutation	SNP	ENST00000308182.5	37																																																																																						0.607	AIM1L-201	KNOWN	basic	protein_coding	protein_coding				NM_001039775.2	
RPS6KA1	6195	broad.mit.edu	37	1	26898009	26898009	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr1:26898009C>T	ENST00000374168.2	+	18	1814	c.1660C>T	c.(1660-1662)Cgc>Tgc	p.R554C	RPS6KA1_ENST00000526792.1_Missense_Mutation_p.R462C|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.R543C|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.R538C|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.R462C|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.R563C	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	554	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CGAGTGCCTGCGCATCTGTGA	0.587																																					p.R563C													.	RPS6KA1	65		0			c.C1687T												91.0	80.0	84.0					1																	26898009		2203	4300	6503	SO:0001583	missense	6195	exon17			TGCCTGCGCATCT	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1660C>T	1.37:g.26898009C>T	ENSP00000363283:p.Arg554Cys		Somatic	185	0	0		WXS	Illumina HiSeq	Phase_I	273	0.02	6	NM_001006665	78	0.00	0	A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	CCDS284.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072915	0.76415	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000531382	T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02	5.55	5.55	0.83447	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.57873	0.2083	L	0.46670	1.46	0.80722	D	1	D;D;D	0.89917	0.992;0.994;1.0	P;B;D	0.87578	0.687;0.439;0.998	T	0.59289	-0.7482	10	0.87932	D	0	.	14.3504	0.66697	0.1481:0.8519:0.0:0.0	.	538;563;554	B7Z2K7;Q15418-2;Q15418	.;.;KS6A1_HUMAN	C	554;543;462;462;538;563	ENSP00000363283:R554C;ENSP00000363281:R543C;ENSP00000431651:R462C;ENSP00000363277:R462C;ENSP00000432281:R538C;ENSP00000435412:R563C	ENSP00000363277:R462C	R	+	1	0	RPS6KA1	26770596	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.935000	0.48963	2.591000	0.87537	0.563000	0.77884	CGC			0.587	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000011431.1		NM_002953	
GPATCH3	63906	mdanderson.org	37	1	27226507	27226507	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr1:27226507G>T	ENST00000361720.5	-	1	450	c.427C>A	c.(427-429)Ctt>Att	p.L143I		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	143							nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GGTAGCCGAAGTCTGCGGATG	0.572																																					p.L143I													.	.			0			c.C427A												52.0	57.0	56.0					1																	27226507		2203	4300	6503	SO:0001583	missense	63906	exon1			GCCGAAGTCTGCG	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.427C>A	1.37:g.27226507G>T	ENSP00000354645:p.Leu143Ile		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	114	0.04	5	NM_022078	47	0.00	0	Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	ENST00000361720.5	37	CCDS290.1	.	.	.	.	.	.	.	.	.	.	G	8.781	0.928279	0.18131	.	.	ENSG00000198746	ENST00000361720;ENST00000536641	T	0.33865	1.39	5.36	5.36	0.76844	.	0.132433	0.50627	D	0.000102	T	0.22820	0.0551	L	0.28649	0.875	0.41644	D	0.989094	B	0.23128	0.08	B	0.18871	0.023	T	0.04900	-1.0919	10	0.05721	T	0.95	-17.073	12.3856	0.55330	0.0:0.1823:0.8177:0.0	.	143	Q96I76	GPTC3_HUMAN	I	143	ENSP00000354645:L143I	ENSP00000354645:L143I	L	-	1	0	GPATCH3	27099094	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	2.809000	0.47971	2.763000	0.94921	0.655000	0.94253	CTT			0.572	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000012181.1		NM_022078	
DNASE2B	58511	broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	84880407	84880407	+	Silent	SNP	C	C	T			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr1:84880407C>T	ENST00000370665.3	+	6	975	c.942C>T	c.(940-942)ggC>ggT	p.G314G	DNASE2B_ENST00000370662.3_Silent_p.G106G	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	314					apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		CCCAAAAGGGCACCAAAAATC	0.393																																					p.G314G	Pancreas(54;788 1175 11852 16034 30034)												.	DNASE2B	40		0			c.C942T												58.0	56.0	57.0					1																	84880407		2203	4300	6503	SO:0001819	synonymous_variant	58511	exon6			AAAGGGCACCAAA	AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	ENST00000370665.3:c.942C>T	1.37:g.84880407C>T			Somatic	253	0	0		WXS	Illumina HiSeq	Phase_I	308	0.04	12	NM_021233	0		0	Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Silent	SNP	ENST00000370665.3	37	CCDS44167.1																																																																																					0.393	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000027248.1		NM_021233	
WDR63	126820	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	1	85573731	85573731	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr1:85573731G>A	ENST00000294664.6	+	15	1749	c.1569G>A	c.(1567-1569)tgG>tgA	p.W523*	WDR63_ENST00000326813.8_Nonsense_Mutation_p.W484*|WDR63_ENST00000370596.1_Nonsense_Mutation_p.W484*	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	523										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TATGTTTTTGGGATATTAGAC	0.328																																					p.W523X													.	.			0			c.G1569A												53.0	51.0	52.0					1																	85573731		2202	4299	6501	SO:0001587	stop_gained	126820	exon15			TTTTTGGGATATT		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.1569G>A	1.37:g.85573731G>A	ENSP00000294664:p.Trp523*		Somatic	68	0	0		WXS	Illumina HiSeq	.	56	0.25	14	NM_145172	0		0	A8K988|Q96L72|Q96NU4	Nonsense_Mutation	SNP	ENST00000294664.6	37	CCDS702.1	.	.	.	.	.	.	.	.	.	.	G	39	7.865685	0.98534	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664	.	.	.	5.59	5.59	0.84812	.	0.120190	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3607	16.5041	0.84264	0.0:0.0:1.0:0.0	.	.	.	.	X	484;484;523	.	ENSP00000294664:W523X	W	+	3	0	WDR63	85346319	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.790000	0.69038	2.610000	0.88304	0.650000	0.86243	TGG			0.328	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000027565.2		NM_145172	
SEC22B	9554	broad.mit.edu	37	1	145109259	145109260	+	RNA	INS	-	-	A	rs61810755|rs11386827		TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr1:145109259_145109260insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											cactccagcccgggggcagagc	0.48																																					.													.	.			0			.																																											9554	.			CCAGCCCGGGGGC	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109259_145109260insA			Somatic	5	0	0		WXS	Illumina HiSeq	Phase_I	12	0.42	5	.	0		0	A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.480	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript		OTTHUMT00000038523.5		NM_004892	
NBPF14	25832	broad.mit.edu	37	1	145293269	145293269	+	Splice_Site	SNP	G	G	A	rs61350760		TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr1:145293269G>A	ENST00000468030.1	+	5	1125		c.e5+1		NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000342960.5_5'Flank|NBPF10_ENST00000369338.1_Splice_Site																							TTTCACAACAGTAAGTTAAGA	0.423																																					.													.	NBPF10	221		0			.																																									SO:0001630	splice_region_variant	100132406	.			ACAACAGTAAGTT																												ENST00000468030.1:c.714+1G>A	1.37:g.145293269G>A			Somatic	41	0.0243902439	1		WXS	Illumina HiSeq	Phase_I	62	0.10	6	.	0		0		Splice_Site	SNP	ENST00000468030.1	37																																																																																						0.423	RP11-458D21.5-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding		OTTHUMT00000038553.9			Intron
ETV3L	440695	broad.mit.edu	37	1	157062558	157062558	+	Silent	SNP	G	G	T			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr1:157062558G>T	ENST00000454449.2	-	5	1253	c.969C>A	c.(967-969)ggC>ggA	p.G323G		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	323					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				TGGGATCCAGGCCTCCCTTTG	0.607																																					p.G323G													.	ETV3L	73		0			c.C969A												69.0	67.0	68.0					1																	157062558		2203	4300	6503	SO:0001819	synonymous_variant	440695	exon5			ATCCAGGCCTCCC	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"""ets variant gene 3-like"""				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.969C>A	1.37:g.157062558G>T			Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	212	0.02	4	NM_001004341	1	0.00	0		Silent	SNP	ENST00000454449.2	37	CCDS30893.1																																																																																					0.607	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000099024.2		NM_001004341	
CCDC181	57821	mdanderson.org	37	1	169390745	169390745	+	Silent	SNP	T	T	C			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr1:169390745T>C	ENST00000367806.3	-	3	1076	c.924A>G	c.(922-924)tcA>tcG	p.S308S	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000545005.1_Silent_p.S308S|CCDC181_ENST00000367805.3_Silent_p.S308S	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	308						nucleus (GO:0005634)											TACTTCGATCTGAGTTGACAG	0.478																																					p.S308S													.	.			0			c.A924G												161.0	150.0	154.0					1																	169390745		2203	4300	6503	SO:0001819	synonymous_variant	57821	exon3			TCGATCTGAGTTG	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.924A>G	1.37:g.169390745T>C			Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	131	0.04	5	NM_021179	2	0.00	0	O60780|Q53FD5|Q5TID9|Q8TC48	Silent	SNP	ENST00000367806.3	37																																																																																						0.478	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000086099.1		NM_021179	
TBCE	6905	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	1	235577756	235577756	+	Missense_Mutation	SNP	C	C	G	rs144747353	byFrequency	TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr1:235577756C>G	ENST00000366601.3	+	4	370	c.194C>G	c.(193-195)aCa>aGa	p.T65R	TBCE_ENST00000543662.1_Missense_Mutation_p.T65R|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Missense_Mutation_p.T65R			Q15813	TBCE_HUMAN	tubulin folding cofactor E	65	CAP-Gly. {ECO:0000255|PROSITE- ProRule:PRU00045}.				'de novo' posttranslational protein folding (GO:0051084)|adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|microtubule cytoskeleton organization (GO:0000226)|muscle atrophy (GO:0014889)|peripheral nervous system neuron axonogenesis (GO:0048936)|post-chaperonin tubulin folding pathway (GO:0007023)|post-embryonic development (GO:0009791)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	chaperone binding (GO:0051087)			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			AGGCACCCGACAGGAGGATCC	0.383																																					p.T65R													.	.			0			c.C194G												100.0	105.0	103.0					1																	235577756		2203	4300	6503	SO:0001583	missense	6905	exon4			ACCCGACAGGAGG	U61232	CCDS1605.1, CCDS73052.1	1q42.3	2014-02-04	2006-11-21		ENSG00000116957	ENSG00000116957			11582	protein-coding gene	gene with protein product		604934	"""tubulin-specific chaperone e"", ""Kenny-Caffey syndrome"", ""hypoparathyroidism, growth and mental retardation, and dysmorphism"""	KCS, HRD		8706133, 9806825, 12389028	Standard	NM_001079515		Approved	KCS1, pac2	uc001hxa.1	Q15813	OTTHUMG00000039987	ENST00000366601.3:c.194C>G	1.37:g.235577756C>G	ENSP00000355560:p.Thr65Arg		Somatic	70	0	0		WXS	Illumina HiSeq	.	59	0.12	7	NM_003193	40	0.25	10	A8K8C2|B7Z3P1	Missense_Mutation	SNP	ENST00000366601.3	37	CCDS1605.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.400252	0.42613	.	.	ENSG00000116957	ENST00000366601;ENST00000406207;ENST00000543662	T;T;T	0.55413	0.52;0.52;0.52	5.33	5.33	0.75918	Cytoskeleton-associated protein, Gly-rich domain (4);	0.264028	0.40064	N	0.001186	T	0.48519	0.1504	L	0.31804	0.96	0.58432	D	0.999992	P;B	0.37731	0.607;0.231	B;B	0.43809	0.432;0.25	T	0.31081	-0.9956	10	0.19590	T	0.45	-21.8618	18.1429	0.89646	0.0:1.0:0.0:0.0	.	65;65	B7Z3P1;Q15813	.;TBCE_HUMAN	R	65	ENSP00000355560:T65R;ENSP00000384571:T65R;ENSP00000439170:T65R	ENSP00000355560:T65R	T	+	2	0	TBCE	233644379	1.000000	0.71417	1.000000	0.80357	0.223000	0.24884	1.901000	0.39838	2.648000	0.89879	0.585000	0.79938	ACA			0.383	TBCE-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000096458.3		NM_003193	
FANK1	92565	mdanderson.org	37	10	127585221	127585221	+	Nonsense_Mutation	SNP	C	C	T	rs202109621		TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr10:127585221C>T	ENST00000368693.1	+	1	114	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	FANK1_ENST00000449042.2_5'UTR|FANK1_ENST00000368695.1_5'UTR			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	4						cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				CATGGAGCCCCAGAGTAAGGg	0.756																																					p.Q4X													.	.			0			c.C10T												8.0	12.0	11.0					10																	127585221		2169	4258	6427	SO:0001587	stop_gained	92565	exon1			GAGCCCCAGAGTA	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.10C>T	10.37:g.127585221C>T	ENSP00000357682:p.Gln4*		Somatic	36	0.0555555556	2		WXS	Illumina HiSeq	Phase_I	30	0.13	4	NM_145235	2	0.00	0	Q6UXY9|Q6X7T6	Nonsense_Mutation	SNP	ENST00000368693.1	37	CCDS31309.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122908	0.94429	.	.	ENSG00000203780	ENST00000368693	.	.	.	2.62	1.68	0.24146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	6.8436	0.23977	0.274:0.726:0.0:0.0	.	.	.	.	X	4	.	ENSP00000357682:Q4X	Q	+	1	0	FANK1	127575211	1.000000	0.71417	0.999000	0.59377	0.552000	0.35366	1.578000	0.36525	0.621000	0.30232	0.462000	0.41574	CAG			0.756	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_145235	
TNNI2	7136	mdanderson.org	37	11	1862339	1862339	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr11:1862339G>T	ENST00000381906.1	+	7	424	c.355G>T	c.(355-357)Gcc>Tcc	p.A119S	TNNI2_ENST00000381911.1_Missense_Mutation_p.A119S|TNNI2_ENST00000252898.7_Missense_Mutation_p.A119S|TNNI2_ENST00000381905.3_Missense_Mutation_p.A119S	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	119					muscle filament sliding (GO:0030049)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|nucleus (GO:0005634)|troponin complex (GO:0005861)	troponin T binding (GO:0031014)			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCGCATGTCGGCCGATGCCAT	0.617																																					p.A119S													.	.			0			c.G355T												48.0	43.0	45.0					11																	1862339		2201	4299	6500	SO:0001583	missense	7136	exon5			ATGTCGGCCGATG	L21715	CCDS31333.1, CCDS53594.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130598	ENSG00000130598			11946	protein-coding gene	gene with protein product	"""troponin I, fast-twitch skeletal muscle isoform"", ""troponin I fast twitch 2"""	191043	"""troponin I, skeletal, fast"", ""arthrogryposis multiplex congenita, distal, type 2B"""	AMCD2B		9016781, 12592607	Standard	NM_001145829		Approved	FSSV, DA2B	uc010qxe.1	P48788	OTTHUMG00000012253	ENST00000381906.1:c.355G>T	11.37:g.1862339G>T	ENSP00000371331:p.Ala119Ser		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	29	0.10	3	NM_001145841	4	0.00	0	A6NIV8|A6NJU5	Missense_Mutation	SNP	ENST00000381906.1	37	CCDS31333.1	.	.	.	.	.	.	.	.	.	.	g	14.98	2.698470	0.48307	.	.	ENSG00000130598	ENST00000381911;ENST00000381906;ENST00000252898;ENST00000381905	D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49	3.19	3.19	0.36642	.	0.000000	0.85682	D	0.000000	D	0.97614	0.9218	M	0.90870	3.155	0.49582	D	0.9998	D;D	0.63046	0.992;0.96	D;D	0.83275	0.996;0.947	D	0.98583	1.0651	10	0.87932	D	0	-1.9453	15.6252	0.76851	0.0:0.0:1.0:0.0	.	119;119	A6NIV8;P48788	.;TNNI2_HUMAN	S	119	ENSP00000371336:A119S;ENSP00000371331:A119S;ENSP00000252898:A119S;ENSP00000371330:A119S	ENSP00000252898:A119S	A	+	1	0	TNNI2	1818915	1.000000	0.71417	0.207000	0.23584	0.148000	0.21650	5.762000	0.68809	2.090000	0.63153	0.313000	0.20887	GCC			0.617	TNNI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000034046.2		NM_003282	
NLRP14	338323	broad.mit.edu	37	11	7081206	7081206	+	Silent	SNP	G	G	T			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr11:7081206G>T	ENST00000299481.4	+	9	3061	c.2715G>T	c.(2713-2715)ctG>ctT	p.L905L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	905					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TGACGCATCTGGATCTAGGAT	0.453																																					p.L905L													.	NLRP14	187		0			c.G2715T												188.0	175.0	179.0					11																	7081206		2201	4296	6497	SO:0001819	synonymous_variant	338323	exon9			GCATCTGGATCTA	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2715G>T	11.37:g.7081206G>T			Somatic	231	0	0		WXS	Illumina HiSeq	Phase_I	214	0.02	5	NM_176822	0		0	Q7RTR6	Silent	SNP	ENST00000299481.4	37	CCDS7776.1																																																																																					0.453	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000384551.1		NM_176822	
KCNK7	10089	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	11	65363219	65363219	+	Nonsense_Mutation	SNP	G	G	A	rs540550781		TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr11:65363219G>A	ENST00000340313.4	-	1	248	c.25C>T	c.(25-27)Cga>Tga	p.R9*	KCNK7_ENST00000342202.4_Nonsense_Mutation_p.R9*|KCNK7_ENST00000394217.2_Nonsense_Mutation_p.R9*|KCNK7_ENST00000394216.2_Nonsense_Mutation_p.R9*	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	9					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|liver(1)|lung(1)	3						AGCCCGTATCGGGACCAGGGC	0.706																																					p.R9X													.	.			0			c.C25T												8.0	11.0	10.0					11																	65363219		2166	4272	6438	SO:0001587	stop_gained	10089	exon1			CGTATCGGGACCA	AF110522	CCDS8106.1, CCDS31608.1, CCDS41673.1	11q13	2012-03-07			ENSG00000173338	ENSG00000173338		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6282	protein-coding gene	gene with protein product		603940				10206991, 11256078, 16382106	Standard	NM_033347		Approved	K2p7.1	uc001oes.3	Q9Y2U2	OTTHUMG00000166528	ENST00000340313.4:c.25C>T	11.37:g.65363219G>A	ENSP00000344820:p.Arg9*		Somatic	111	0	0		WXS	Illumina HiSeq	.	102	0.06	6	NM_005714	0		0	Q3SYI2|Q9Y2U3|Q9Y2U4	Nonsense_Mutation	SNP	ENST00000340313.4	37	CCDS31608.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091148	0.76756	.	.	ENSG00000173338	ENST00000342202;ENST00000394217;ENST00000394216;ENST00000340313	.	.	.	5.0	2.04	0.26737	.	0.350657	0.20409	N	0.092892	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.3572	0.11185	0.2557:0.0:0.5859:0.1584	.	.	.	.	X	9	.	ENSP00000344820:R9X	R	-	1	2	KCNK7	65119795	0.407000	0.25352	0.950000	0.38849	0.162000	0.22319	0.193000	0.17116	0.519000	0.28406	-0.123000	0.14984	CGA			0.706	KCNK7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390206.1		NM_005714	
MARS	4141	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	12	57883073	57883073	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr12:57883073G>A	ENST00000262027.5	+	3	358	c.224G>A	c.(223-225)tGg>tAg	p.W75*	ARHGAP9_ENST00000550288.1_5'Flank|ARHGAP9_ENST00000393797.2_5'Flank|MARS_ENST00000315473.5_5'UTR|MARS_ENST00000447721.2_Intron	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	75	GST C-terminal.				gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TTATCTGGCTGGGAGCAAGAT	0.502																																					p.W75X													.	.			0			c.G224A												106.0	107.0	107.0					12																	57883073		2203	4300	6503	SO:0001587	stop_gained	4141	exon3			CTGGCTGGGAGCA	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.224G>A	12.37:g.57883073G>A	ENSP00000262027:p.Trp75*		Somatic	114	0	0		WXS	Illumina HiSeq	.	125	0.19	24	NM_004990	25	0.12	3	B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Nonsense_Mutation	SNP	ENST00000262027.5	37	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.091180	0.55968	.	.	ENSG00000166986	ENST00000262027	.	.	.	4.61	4.61	0.57282	.	0.207159	0.43416	D	0.000566	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-9.8979	9.3572	0.38173	0.1002:0.0:0.8998:0.0	.	.	.	.	X	75	.	ENSP00000262027:W75X	W	+	2	0	MARS	56169340	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.999000	0.49473	2.492000	0.84095	0.655000	0.94253	TGG			0.502	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000407014.1		NM_004990	
RP11-221N13.4	0	broad.mit.edu	37	12	66039663	66039664	+	lincRNA	INS	-	-	A			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr12:66039663_66039664insA	ENST00000545188.1	+	0	85																											AAATGAAAAAGAAAAAAAAAGC	0.302																																					.													.	.			0			.																																											0	.			GAAAAAGAAAAAA																													12.37:g.66039672_66039672dupA			Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	40	0.20	8	.	10	0.00	0		RNA	INS	ENST00000545188.1	37																																																																																						0.302	RP11-221N13.4-002	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000401557.1			
SFSWAP	6433	mdanderson.org	37	12	132241113	132241113	+	Silent	SNP	G	G	T			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr12:132241113G>T	ENST00000261674.4	+	11	1785	c.1644G>T	c.(1642-1644)gtG>gtT	p.V548V	RP11-495K9.5_ENST00000537032.1_lincRNA|SFSWAP_ENST00000541286.1_Silent_p.V548V	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	548					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CAGCCGAGGTGGGAGCACGGG	0.622																																					p.V548V													.	.			0			c.G1644T												75.0	63.0	67.0					12																	132241113		2203	4300	6503	SO:0001819	synonymous_variant	6433	exon11			CGAGGTGGGAGCA	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.1644G>T	12.37:g.132241113G>T			Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	87	0.05	4	NM_001261411	63	0.00	0	B2RN45|B7ZM97|F5H6B8|Q6PJF7	Silent	SNP	ENST00000261674.4	37	CCDS9273.1	.	.	.	.	.	.	.	.	.	.	G	5.757	0.324153	0.10900	.	.	ENSG00000061936	ENST00000537164	.	.	.	5.34	-8.83	0.00806	.	.	.	.	.	T	0.28599	0.0708	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.33369	-0.9871	4	.	.	.	-0.2562	11.3217	0.49426	0.7086:0.0:0.1965:0.0949	.	.	.	.	L	188	.	.	W	+	2	0	SFSWAP	130807066	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-2.424000	0.01029	-1.971000	0.01002	-0.258000	0.10820	TGG			0.622	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000399276.1		NM_004592	
ERICH6B	220081	ucsc.edu	37	13	46170726	46170726	+	Missense_Mutation	SNP	A	A	G	rs28548352|rs142875900|rs375947127	byFrequency	TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr13:46170726A>G	ENST00000298738.2	-	3	579	c.415T>C	c.(415-417)Tat>Cat	p.Y139H		NM_182542.2	NP_872348.2	Q5W0A0	ERI6B_HUMAN		139	Glu-rich.									breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)	5						TTCCCCAGATActcttcctcc	0.488																																					p.Y139H													.	FAM194B	42		0			c.T415C												134.0	79.0	95.0					13																	46170726		692	1566	2258	SO:0001583	missense	220081	exon3			CCAGATACTCTTC																												ENST00000298738.2:c.415T>C	13.37:g.46170726A>G	ENSP00000298738:p.Tyr139His		Somatic	218	0.004587156	1		WXS	Illumina HiSeq		208	0.16	34	NM_182542	0		0	Q96MB5	Missense_Mutation	SNP	ENST00000298738.2	37	CCDS45045.1	.	.	.	.	.	.	.	.	.	.	A	3.562	-0.089484	0.07053	.	.	ENSG00000165837	ENST00000298738	T	0.06294	3.32	2.4	-0.599	0.11645	.	.	.	.	.	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	B;B	0.27594	0.182;0.071	B;B	0.26310	0.068;0.009	T	0.43925	-0.9361	9	0.87932	D	0	0.4727	0.1132	0.00058	0.3431:0.2385:0.1823:0.236	rs28548352	139;139	A2VDI6;Q5W0A0	.;F194B_HUMAN	H	139	ENSP00000298738:Y139H	ENSP00000298738:Y139H	Y	-	1	0	FAM194B	45068727	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-6.553000	0.00061	0.160000	0.19432	0.358000	0.22013	TAT			0.488	FAM194B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044781.3			
ERICH6B	220081	hgsc.bcm.edu	37	13	46170742	46170742	+	Silent	SNP	A	A	G			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr13:46170742A>G	ENST00000298738.2	-	3	563	c.399T>C	c.(397-399)caT>caC	p.H133H		NM_182542.2	NP_872348.2	Q5W0A0	ERI6B_HUMAN		133	Glu-rich.									breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)	5						cctcctccagatgctcttcct	0.493																																					p.H133H													FAM194B,colon,carcinoma,-2,1	FAM194B	-2	1	0			c.T399C												160.0	118.0	131.0					13																	46170742		692	1591	2283	SO:0001819	synonymous_variant	220081	exon3			CTCCAGATGCTCT																												ENST00000298738.2:c.399T>C	13.37:g.46170742A>G			Somatic	224	0.0044642857	1		WXS	Illumina HiSeq	.	196	0.08	16	NM_182542	0		0	Q96MB5	Silent	SNP	ENST00000298738.2	37	CCDS45045.1																																																																																					0.493	FAM194B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044781.3			
TRIM13	10206	mdanderson.org	37	13	50590789	50590789	+	3'UTR	SNP	G	G	T	rs531900662		TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr13:50590789G>T	ENST00000378182.3	+	0	5451				KCNRG_ENST00000360473.4_Intron|TRIM13_ENST00000478111.1_Intron|KCNRG_ENST00000312942.1_Intron	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13						anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		AAGGATAGTTGCTCCTGAGTC	0.413													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15896	0.0		0.0	False		,,,				2504	0.0				.													.	.			0			.																																									SO:0001624	3_prime_UTR_variant	10206	.			ATAGTTGCTCCTG	AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9976	protein-coding gene	gene with protein product		605661	"""ret finger protein 2"", ""tripartite motif-containing 13"""	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926	ENST00000378182.3:c.*3489G>T	13.37:g.50590789G>T			Somatic	204	0.0049019608	1		WXS	Illumina HiSeq	Phase_I	144	0.06	8	.	0		0	B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	RNA	SNP	ENST00000378182.3	37	CCDS9423.1																																																																																					0.413	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000354875.1		NM_001007278	
RASA3	22821	mdanderson.org	37	13	114778651	114778651	+	Silent	SNP	G	G	T			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr13:114778651G>T	ENST00000334062.7	-	15	1600	c.1479C>A	c.(1477-1479)tcC>tcA	p.S493S	RASA3_ENST00000389544.4_Silent_p.S461S	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	493	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			AGAGGTTGGGGGAGAGAATGG	0.632																																					p.S493S													RASA3,colon,carcinoma,-1,1	RASA3	-1	1	0			c.C1479A												101.0	77.0	85.0					13																	114778651		2203	4299	6502	SO:0001819	synonymous_variant	22821	exon15			GTTGGGGGAGAGA		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.1479C>A	13.37:g.114778651G>T			Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	40	0.08	3	NM_007368	2	0.00	0	A6NL15|F8W6X8|Q8IUY2	Silent	SNP	ENST00000334062.7	37	CCDS32016.1																																																																																					0.632	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045957.2		NM_007368	
IRF2BPL	64207	mdanderson.org	37	14	77493764	77493764	+	Silent	SNP	C	C	T	rs553703325|rs556445214|rs200317113	byFrequency	TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr14:77493764C>T	ENST00000238647.3	-	1	1270	c.372G>A	c.(370-372)caG>caA	p.Q124Q		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	124	Poly-Gln.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						gctgttgttgctgctgctgct	0.706													c|||	11	0.00219649	0.0023	0.0	5008	,	,		6806	0.005		0.0	False		,,,				2504	0.0031				p.Q124Q													.	.			0			c.G372A												2.0	2.0	2.0					14																	77493764		1368	2499	3867	SO:0001819	synonymous_variant	64207	exon1			TTGTTGCTGCTGC	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.372G>A	14.37:g.77493764C>T			Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	19	0.21	4	NM_024496	1	0.00	0	Q8NDQ2|Q96JG2|Q9H3I7	Silent	SNP	ENST00000238647.3	37	CCDS9854.1																																																																																					0.706	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000414298.1		NM_024496	
GTF2A1	2957	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	81670290	81670290	+	Silent	SNP	A	A	T			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr14:81670290A>T	ENST00000553612.1	-	3	694	c.291T>A	c.(289-291)ccT>ccA	p.P97P	GTF2A1_ENST00000434192.2_Silent_p.P58P|SNORA79_ENST00000408376.1_RNA	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	97					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		GCGCTTGCTGAGGTACTGTct	0.483																																					p.P97P													.	.			0			c.T291A												140.0	101.0	114.0					14																	81670290		2203	4300	6503	SO:0001819	synonymous_variant	2957	exon3			TTGCTGAGGTACT	X75383	CCDS9873.1, CCDS9874.1	14q31	2010-03-23	2002-08-29					"""General transcription factors"""	4646	protein-coding gene	gene with protein product		600520	"""glucose regulated protein, 58kD pseudogene"""			8224848	Standard	NM_015859		Approved	TFIIA	uc001xvf.2	P52655		ENST00000553612.1:c.291T>A	14.37:g.81670290A>T			Somatic	111	0	0		WXS	Illumina HiSeq	.	93	0.33	31	NM_015859	0		0	Q3KNQ9	Silent	SNP	ENST00000553612.1	37	CCDS9873.1																																																																																					0.483	GTF2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000413309.1		NM_015859	
SPESP1	246777	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	15	69238736	69238736	+	Missense_Mutation	SNP	G	G	A	rs142183563		TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr15:69238736G>A	ENST00000310673.3	+	2	1017	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	288					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CCAGTAGGACGAACAAGTAAT	0.343																																					p.R288Q													.	.			0			c.G863A												53.0	56.0	55.0					15																	69238736		2200	4297	6497	SO:0001583	missense	246777	exon2			TAGGACGAACAAG	AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.863G>A	15.37:g.69238736G>A	ENSP00000312284:p.Arg288Gln		Somatic	165	0	0		WXS	Illumina HiSeq	.	170	0.08	14	NM_145658	8	0.00	0	Q8NG22|Q8WVH8	Missense_Mutation	SNP	ENST00000310673.3	37	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	G	4.990	0.183818	0.09495	.	.	ENSG00000258484	ENST00000310673	T	0.24908	1.83	5.33	-10.7	0.00240	.	2.276280	0.02067	N	0.051277	T	0.11879	0.0289	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.09530	-1.0670	10	0.21540	T	0.41	1.1737	9.2685	0.37657	0.1351:0.0805:0.6251:0.1593	.	288	Q6UW49	SPESP_HUMAN	Q	288	ENSP00000312284:R288Q	ENSP00000312284:R288Q	R	+	2	0	SPESP1	67025790	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.930000	0.00689	-3.290000	0.00195	-0.937000	0.02696	CGA			0.343	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257125.1		NM_145658	
CYP1A1	1543	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	15	75015057	75015057	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr15:75015057C>A	ENST00000379727.3	-	2	580	c.382G>T	c.(382-384)Gga>Tga	p.G128*	CYP1A1_ENST00000395049.4_Nonsense_Mutation_p.G128*|CYP1A1_ENST00000567032.1_Nonsense_Mutation_p.G128*|CYP1A1_ENST00000395048.2_Nonsense_Mutation_p.G128*|CYP1A1_ENST00000564596.1_Intron			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	128					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	CACACTGGTCCAGAGTCTGGG	0.612									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																												p.G128X													.	.			0			c.G382T												49.0	53.0	52.0					15																	75015057		2194	4295	6489	SO:0001587	stop_gained	1543	exon2	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	CTGGTCCAGAGTC	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.382G>T	15.37:g.75015057C>A	ENSP00000369050:p.Gly128*		Somatic	88	0	0		WXS	Illumina HiSeq	.	99	0.26	26	NM_000499	0		0	A4F3V9|A4F3W0|Q53G18	Nonsense_Mutation	SNP	ENST00000379727.3	37	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	C	37	6.117687	0.97300	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	.	.	.	5.23	5.23	0.72850	.	0.099961	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8027	0.92025	0.0:1.0:0.0:0.0	.	.	.	.	X	128	.	ENSP00000268062:G128X	G	-	1	0	CYP1A1	72802110	0.979000	0.34478	0.665000	0.29768	0.774000	0.43823	4.773000	0.62331	2.432000	0.82394	0.462000	0.41574	GGA			0.612	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286396.1		NM_000499	
METTL9	51108	mdanderson.org	37	16	21611083	21611083	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr16:21611083T>C	ENST00000358154.3	+	1	287	c.29T>C	c.(28-30)cTg>cCg	p.L10P	METTL9_ENST00000396014.4_Missense_Mutation_p.L10P	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	10										endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		TGGCTGTGCCTGAGCCTGGCG	0.756																																					p.L10P													.	.			0			c.T29C												5.0	7.0	6.0					16																	21611083		1787	3705	5492	SO:0001583	missense	51108	exon1			TGTGCCTGAGCCT	NM_016025, AF151839	CCDS10598.2, CCDS45440.1	16p12.2	2008-11-06			ENSG00000197006	ENSG00000197006			24586	protein-coding gene	gene with protein product	"""DORA reverse strand protein 1"""	609388				10810093, 11132146	Standard	NM_001077180		Approved	DREV1	uc002dje.3	Q9H1A3	OTTHUMG00000131584	ENST00000358154.3:c.29T>C	16.37:g.21611083T>C	ENSP00000350874:p.Leu10Pro		Somatic	17	0	0		WXS	Illumina HiSeq	Phase_I	12	0.17	2	NM_016025	37	0.00	0	Q8NBT8|Q9BWJ7|Q9H1A2|Q9Y390	Missense_Mutation	SNP	ENST00000358154.3	37	CCDS10598.2	.	.	.	.	.	.	.	.	.	.	T	15.25	2.776833	0.49786	.	.	ENSG00000197006	ENST00000358154;ENST00000396014	.	.	.	3.98	1.65	0.23941	.	0.620020	0.13923	U	0.353444	T	0.26882	0.0658	N	0.08118	0	0.48632	D	0.999687	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.05402	-1.0887	9	0.27785	T	0.31	-2.9106	5.1697	0.15103	0.0:0.2549:0.0:0.7451	.	10;10	Q9H1A3-2;Q9H1A3	.;METL9_HUMAN	P	10	.	ENSP00000350874:L10P	L	+	2	0	METTL9	21518584	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.569000	0.36428	0.502000	0.28037	0.391000	0.25812	CTG			0.756	METTL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000254465.1		NM_016025	
MVP	9961	ucsc.edu;bcgsc.ca	37	16	29853393	29853393	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr16:29853393G>T	ENST00000357402.5	+	10	1732	c.1594G>T	c.(1594-1596)Gcg>Tcg	p.A532S	MVP_ENST00000395353.1_Missense_Mutation_p.A532S	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	532					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CATCGAAACGGCGGATCATGC	0.622																																					p.A532S													.	MVP	80		0			c.G1594T												25.0	24.0	25.0					16																	29853393		2197	4300	6497	SO:0001583	missense	9961	exon10			GAAACGGCGGATC	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1594G>T	16.37:g.29853393G>T	ENSP00000349977:p.Ala532Ser		Somatic	26	0	0		WXS	Illumina HiSeq		31	0.13	4	NM_017458	58	0.00	0	Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736024	0.49045	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.41400	1.0;1.0	5.7	4.74	0.60224	Shoulder domain (1);	0.049070	0.85682	D	0.000000	T	0.42720	0.1215	L	0.37507	1.11	0.80722	D	1	D	0.58970	0.984	P	0.55222	0.771	T	0.19386	-1.0307	10	0.09843	T	0.71	-3.0719	12.6296	0.56649	0.0804:0.0:0.9196:0.0	.	532	Q14764	MVP_HUMAN	S	532	ENSP00000349977:A532S;ENSP00000378760:A532S	ENSP00000349977:A532S	A	+	1	0	MVP	29760894	1.000000	0.71417	0.077000	0.20336	0.545000	0.35147	8.356000	0.90085	1.398000	0.46701	0.650000	0.86243	GCG			0.622	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000109711.3		NM_005115	
PRSS36	146547	mdanderson.org	37	16	31154157	31154157	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr16:31154157C>A	ENST00000268281.4	-	9	1316	c.1258G>T	c.(1258-1260)Gtg>Ttg	p.V420L	PRSS36_ENST00000418068.2_Missense_Mutation_p.V420L|PRSS36_ENST00000569305.1_Missense_Mutation_p.V420L	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	420	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CTCAGGTTCACGGGCGTGCGC	0.761																																					p.V420L													.	.			0			c.G1258T												7.0	9.0	8.0					16																	31154157		2111	4188	6299	SO:0001583	missense	146547	exon9			GGTTCACGGGCGT	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.1258G>T	16.37:g.31154157C>A	ENSP00000268281:p.Val420Leu		Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	41	0.07	3	NM_001258290	0		0	A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608509	0.66558	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	T;T	0.33438	1.41;1.41	4.67	3.64	0.41730	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.25901	0.0631	L	0.41906	1.305	0.29018	N	0.886468	B;P;P	0.36587	0.215;0.559;0.559	B;B;B	0.39738	0.167;0.308;0.308	T	0.08576	-1.0715	9	0.37606	T	0.19	.	7.0026	0.24817	0.0:0.7223:0.1777:0.1	.	420;420;420	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	L	420	ENSP00000268281:V420L;ENSP00000407160:V420L	ENSP00000268281:V420L	V	-	1	0	PRSS36	31061658	0.929000	0.31497	1.000000	0.80357	0.976000	0.68499	1.232000	0.32636	2.285000	0.76669	0.585000	0.79938	GTG			0.761	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000433542.1		NM_173502	
SNX20	124460	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	50707354	50707354	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr16:50707354G>T	ENST00000330943.4	-	4	1085	c.914C>A	c.(913-915)aCc>aAc	p.T305N	SNX20_ENST00000300590.3_Intron|RP11-401P9.5_ENST00000570167.1_RNA|SNX20_ENST00000423026.2_Intron|RP11-401P9.5_ENST00000570241.2_RNA	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	305					protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CTCCTTCAGGGTGATGCCTCG	0.662																																					p.T305N													.	SNX20	50		0			c.C914A												53.0	58.0	57.0					16																	50707354		2198	4300	6498	SO:0001583	missense	124460	exon4			TTCAGGGTGATGC	AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"""Sorting nexins"""	30390	protein-coding gene	gene with protein product	"""selectin ligand interactor cytoplasmic 1"""	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.914C>A	16.37:g.50707354G>T	ENSP00000332062:p.Thr305Asn		Somatic	71	0.014084507	1		WXS	Illumina HiSeq	Phase_I	74	0.23	17	NM_182854	1	0.00	0	A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	ENST00000330943.4	37	CCDS10745.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223768	0.39300	.	.	ENSG00000167208	ENST00000330943;ENST00000413750	T	0.36157	1.27	5.67	4.72	0.59763	.	0.380132	0.29486	N	0.012002	T	0.33411	0.0862	L	0.53249	1.67	0.35534	D	0.802494	P	0.50272	0.933	B	0.39706	0.307	T	0.50931	-0.8769	10	0.48119	T	0.1	-32.8328	12.6826	0.56930	0.0758:0.0:0.9242:0.0	.	305	Q7Z614	SNX20_HUMAN	N	305;141	ENSP00000332062:T305N	ENSP00000332062:T305N	T	-	2	0	SNX20	49264855	1.000000	0.71417	0.978000	0.43139	0.183000	0.23260	6.063000	0.71162	1.403000	0.46800	0.561000	0.74099	ACC			0.662	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256879.2		NM_153337	
COG8	84342	mdanderson.org	37	16	69364875	69364875	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr16:69364875G>T	ENST00000306875.4	-	5	1820	c.1706C>A	c.(1705-1707)gCg>gAg	p.A569E	PDF_ENST00000288022.1_5'Flank|RP11-343C2.12_ENST00000562949.1_Intron|COG8_ENST00000564419.1_5'Flank	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	569					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						GGGCCCCAGCGCCTGGTCATC	0.667																																					p.A569E													.	.			0			c.C1706A												23.0	21.0	21.0					16																	69364875		2193	4297	6490	SO:0001583	missense	84342	exon5			CCCAGCGCCTGGT	AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"""Components of oligomeric golgi complex"""	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.1706C>A	16.37:g.69364875G>T	ENSP00000305459:p.Ala569Glu		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	93	0.05	5	NM_032382	18	0.00	0	Q0VAK2|Q8WVV6|Q9H6F8	Missense_Mutation	SNP	ENST00000306875.4	37	CCDS10876.1	.	.	.	.	.	.	.	.	.	.	-	11.58	1.682539	0.29872	.	.	ENSG00000213380	ENST00000306875	T	0.38240	1.15	5.45	1.4	0.22301	.	0.545684	0.19097	N	0.122807	T	0.05960	0.0155	N	0.00197	-1.87	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33599	-0.9862	10	0.02654	T	1	-5.9791	3.6721	0.08277	0.1274:0.0832:0.1402:0.6492	.	569	Q96MW5	COG8_HUMAN	E	569	ENSP00000305459:A569E	ENSP00000305459:A569E	A	-	2	0	COG8	67922376	0.938000	0.31826	0.654000	0.29608	0.020000	0.10135	0.597000	0.24059	0.355000	0.24131	-0.531000	0.04308	GCG			0.667	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268948.2		NM_032382	
PRDM7	11105	broad.mit.edu	37	16	90161168	90161168	+	5'Flank	SNP	T	T	G	rs8055740|rs371109645	byFrequency	TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr16:90161168T>G	ENST00000569206.1	-	0	0				TUBB8P7_ENST00000567960.1_RNA|TUBB8P7_ENST00000564451.1_RNA			Q9NQW5	PRDM7_HUMAN	PR domain containing 7						regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CCTCCTGTCCTCCGAGTCGAG	0.622													.|||	781	0.15595	0.2186	0.1527	5008	,	,		2545	0.003		0.2684	False		,,,				2504	0.1155				.													.	.			0			.																																									SO:0001631	upstream_gene_variant	0	.			CTGTCCTCCGAGT	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990		16.37:g.90161168T>G	Exception_encountered		Somatic	14	0	0		WXS	Illumina HiSeq	Phase_I	18	0.17	3	.	1	1.00	1	A4Q9G8|Q08EM4|Q9NQW4	RNA	SNP	ENST00000569206.1	37																																																																																						0.622	PRDM7-009	KNOWN	basic	processed_transcript	protein_coding		OTTHUMT00000420855.1			
TNK1	8711	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	7290430	7290430	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr17:7290430G>T	ENST00000576812.1	+	9	1738	c.1369G>T	c.(1369-1371)Ggc>Tgc	p.G457C	TNK1_ENST00000311668.2_Missense_Mutation_p.G452C|TNK1_ENST00000570896.1_Missense_Mutation_p.G452C	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1											central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				AGTCCACAGAGGCACCCCTGC	0.642																																					p.G457C													.	.			0			c.G1369T												25.0	26.0	26.0					17																	7290430		1916	4130	6046	SO:0001583	missense	8711	exon9			CACAGAGGCACCC	U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292			11940	protein-coding gene	gene with protein product		608076				8632913	Standard	NM_003985		Approved		uc002ggi.4	Q13470		ENST00000576812.1:c.1369G>T	17.37:g.7290430G>T	ENSP00000459799:p.Gly457Cys		Somatic	142	0	0		WXS	Illumina HiSeq	.	124	0.06	7	NM_001251902	6	0.00	0		Missense_Mutation	SNP	ENST00000576812.1	37	CCDS58510.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283665	0.80803	.	.	ENSG00000174292	ENST00000311668	T	0.76709	-1.04	4.96	2.96	0.34315	.	0.289830	0.25065	N	0.033403	T	0.60676	0.2287	N	0.08118	0	0.31359	N	0.681596	P;P	0.48407	0.91;0.855	P;B	0.46758	0.526;0.326	T	0.65047	-0.6263	10	0.54805	T	0.06	.	6.5547	0.22454	0.2092:0.0:0.7908:0.0	.	452;457	Q13470-2;Q13470	.;TNK1_HUMAN	C	452	ENSP00000312309:G452C	ENSP00000312309:G452C	G	+	1	0	TNK1	7231154	0.272000	0.24172	0.994000	0.49952	0.689000	0.40095	0.663000	0.25053	1.407000	0.46875	0.313000	0.20887	GGC			0.642	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000440832.2		NM_003985	
RP11-434D2.11	0	broad.mit.edu	37	17	20459719	20459719	+	RNA	DEL	A	A	-	rs57794427|rs149462269		TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr17:20459719delA	ENST00000579603.1	-	0	63																											atatatatatatatatatata	0.353																																					.													.	.			0			.																																											0	.			ATATATATATATA																													17.37:g.20459719delA			Somatic	188	0.0053191489	1		WXS	Illumina HiSeq	Phase_I	68	0.22	15	.	0		0		RNA	DEL	ENST00000579603.1	37																																																																																						0.353	RP11-434D2.11-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000448286.1			
FLJ36000	284124	broad.mit.edu	37	17	21906824	21906825	+	lincRNA	INS	-	-	TT	rs60131604|rs201476839|rs62050046		TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr17:21906824_21906825insTT	ENST00000581223.2	+	0	148					NR_027084.1																						gtgtgtgtgtgtgtgtgtgtgt	0.515																																					.													.	.			0			.																																											0	.			GTGTGTGTGTGTG																													17.37:g.21906824_21906825insTT			Somatic	16	0	0		WXS	Illumina HiSeq	Phase_I	30	0.37	11	.	0		0		RNA	INS	ENST00000581223.2	37																																																																																						0.515	RP11-744K17.9-001	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000451067.1			
LOC644669	644669	broad.mit.edu	37	18	15322956	15322962	+	RNA	DEL	TTTATAC	TTTATAC	-	rs146209657|rs368482408		TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	TTTATAC	TTTATAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr18:15322956_15322962delTTTATAC	ENST00000455308.2	-	0	594				RNU6-721P_ENST00000410155.1_RNA	NR_027417.1																						AAACTAAAAATTTATACTTCTTAAAAC	0.208																																					.													.	.			0			.																																											0	.			TAAAAATTTATAC																													18.37:g.15322956_15322962delTTTATAC			Somatic	11	0	0		WXS	Illumina HiSeq	Phase_I	7	0.29	2	.	0		0		RNA	DEL	ENST00000455308.2	37																																																																																						0.208	AP005901.1-001	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000373635.1			
MBD1	4152	mdanderson.org	37	18	47806263	47806263	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr18:47806263A>G	ENST00000591416.1	-	2	531	c.100T>C	c.(100-102)Tat>Cat	p.Y34H	MBD1_ENST00000588937.1_Missense_Mutation_p.Y34H|MBD1_ENST00000585672.1_Missense_Mutation_p.Y34H|MBD1_ENST00000590208.1_Missense_Mutation_p.Y34H|MBD1_ENST00000398488.1_Missense_Mutation_p.Y34H|MBD1_ENST00000339998.6_Missense_Mutation_p.Y34H|MBD1_ENST00000591535.1_Missense_Mutation_p.Y34H|MBD1_ENST00000382948.5_Missense_Mutation_p.Y34H|MBD1_ENST00000436910.1_Missense_Mutation_p.Y34H|MBD1_ENST00000457839.2_Missense_Mutation_p.Y34H|MBD1_ENST00000269471.5_Missense_Mutation_p.Y34H|MBD1_ENST00000585595.1_Missense_Mutation_p.Y34H|MBD1_ENST00000269468.5_Missense_Mutation_p.Y34H|MBD1_ENST00000587605.1_Missense_Mutation_p.Y34H|MBD1_ENST00000347968.3_Missense_Mutation_p.Y34H|MBD1_ENST00000353909.3_Missense_Mutation_p.Y34H|MBD1_ENST00000349085.2_Missense_Mutation_p.Y34H|MBD1_ENST00000424334.2_Missense_Mutation_p.Y60H|MBD1_ENST00000398495.2_Missense_Mutation_p.Y34H|MBD1_ENST00000398493.1_Missense_Mutation_p.Y34H			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	34	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CTCTGGTAATAGGTGTCTGAG	0.562																																					p.Y34H													.	.			0			c.T100C												53.0	51.0	52.0					18																	47806263		2203	4300	6503	SO:0001583	missense	4152	exon2			GGTAATAGGTGTC	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.100T>C	18.37:g.47806263A>G	ENSP00000467017:p.Tyr34His		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	35	0.09	3	NM_015845	2	0.00	0	A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.172719	0.78452	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	D;D;D;D;D;D;D;D;D;D;D;D;D	0.99436	-5.9;-5.9;-5.9;-5.9;-5.9;-5.9;-5.9;-5.9;-5.9;-5.9;-5.9;-5.9;-5.9	4.35	4.35	0.52113	Methyl-CpG DNA binding (4);DNA-binding, integrase-type (1);	0.000000	0.46145	D	0.000315	D	0.99504	0.9823	M	0.88241	2.94	0.44508	D	0.99745	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;0.999;0.998;0.998;0.997;1.0;0.999;1.0	D	0.98448	1.0590	10	0.87932	D	0	-9.5831	11.8086	0.52169	1.0:0.0:0.0:0.0	.	34;60;34;34;34;34;34;34;34;34;34	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.	H	34;34;34;34;34;34;34;60;34;34;34;34;34	ENSP00000372407:Y34H;ENSP00000269469:Y34H;ENSP00000342531:Y34H;ENSP00000269468:Y34H;ENSP00000285102:Y34H;ENSP00000409561:Y34H;ENSP00000269471:Y34H;ENSP00000408846:Y60H;ENSP00000339546:Y34H;ENSP00000381508:Y34H;ENSP00000405268:Y34H;ENSP00000381506:Y34H;ENSP00000381502:Y34H	ENSP00000269468:Y34H	Y	-	1	0	MBD1	46060261	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.954000	0.76001	1.741000	0.51731	0.383000	0.25322	TAT			0.562	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000255926.3		NM_015846	
ZNF236	7776	mdanderson.org	37	18	74580818	74580818	+	Splice_Site	SNP	A	A	G			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr18:74580818A>G	ENST00000253159.8	+	4	733	c.535A>G	c.(535-537)Agg>Ggg	p.R179G	ZNF236_ENST00000583095.1_3'UTR|ZNF236_ENST00000320610.9_Splice_Site_p.R181G	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	179					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TTACAAAATTAGGTATGAGTC	0.478																																					p.R179G													.	.			0			c.A535G												57.0	58.0	58.0					18																	74580818		1910	4133	6043	SO:0001630	splice_region_variant	7776	exon4			AAAATTAGGTATG	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.536+1A>G	18.37:g.74580818A>G			Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	18	0.11	2	NM_007345	0		0	B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.605409	0.87157	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.12672	2.66;2.82	5.27	5.27	0.74061	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.24586	0.0596	N	0.24115	0.695	0.80722	D	1	D;D	0.63880	0.983;0.993	P;D	0.72338	0.818;0.977	T	0.03717	-1.1010	10	0.72032	D	0.01	.	15.198	0.73108	1.0:0.0:0.0:0.0	.	179;179	Q9NWI2;Q9UL36	.;ZN236_HUMAN	G	179	ENSP00000253159:R179G;ENSP00000444524:R179G	ENSP00000253159:R179G	R	+	1	2	ZNF236	72709806	1.000000	0.71417	0.847000	0.33407	0.929000	0.56500	8.989000	0.93506	1.985000	0.57927	0.460000	0.39030	AGG			0.478	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000445776.1			Missense_Mutation
ATP9B	374868	mdanderson.org	37	18	76870489	76870489	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr18:76870489T>C	ENST00000426216.2	+	3	445	c.428T>C	c.(427-429)tTt>tCt	p.F143S	ATP9B_ENST00000458297.2_Missense_Mutation_p.F91S|ATP9B_ENST00000591464.1_Intron|ATP9B_ENST00000307671.7_Missense_Mutation_p.F143S|ATP9B_ENST00000586722.1_Missense_Mutation_p.F143S	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	143					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TACAATGTGTTTACCTTTATA	0.408																																					p.F143S													.	.			0			c.T428C												55.0	61.0	59.0					18																	76870489		2199	4300	6499	SO:0001583	missense	374868	exon3			ATGTGTTTACCTT	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.428T>C	18.37:g.76870489T>C	ENSP00000398076:p.Phe143Ser		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	46	0.07	3	NM_198531	2	0.00	0	O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	T	17.36	3.369739	0.61624	.	.	ENSG00000166377	ENST00000542323;ENST00000426216;ENST00000307671;ENST00000458297	T;T;T	0.76578	-1.03;-1.03;-1.03	5.52	5.52	0.82312	.	0.096334	0.64402	D	0.000001	T	0.80644	0.4662	M	0.73372	2.23	0.80722	D	1	B;B;B	0.31752	0.06;0.1;0.338	B;B;B	0.38755	0.022;0.115;0.281	T	0.81805	-0.0764	10	0.87932	D	0	.	15.6361	0.76953	0.0:0.0:0.0:1.0	.	143;143;143	O43861;O43861-2;B4DJ94	ATP9B_HUMAN;.;.	S	66;143;143;91	ENSP00000398076:F143S;ENSP00000304500:F143S;ENSP00000442794:F91S	ENSP00000304500:F143S	F	+	2	0	ATP9B	74971477	1.000000	0.71417	0.981000	0.43875	0.987000	0.75469	7.538000	0.82048	2.101000	0.63845	0.459000	0.35465	TTT			0.408	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000256402.3		NM_198531	
GRIN3B	116444	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	19	1004822	1004822	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr19:1004822C>T	ENST00000234389.3	+	3	1341	c.1322C>T	c.(1321-1323)gCg>gTg	p.A441V	AC004528.4_ENST00000588380.1_RNA|GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	441					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAGTGCCCAGCGGGGCAGCTG	0.672																																					p.A441V													.	.			0			c.C1322T												48.0	49.0	48.0					19																	1004822		2203	4297	6500	SO:0001583	missense	116444	exon3			GCCCAGCGGGGCA		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1322C>T	19.37:g.1004822C>T	ENSP00000234389:p.Ala441Val		Somatic	77	0	0		WXS	Illumina HiSeq	.	84	0.05	4	NM_138690	0		0	Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	CCDS32861.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182484	0.57800	.	.	ENSG00000116032	ENST00000234389	T	0.12774	2.65	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.38348	0.1037	M	0.78637	2.42	0.53688	D	0.999973	D	0.89917	1.0	D	0.72625	0.978	T	0.24297	-1.0164	10	0.48119	T	0.1	.	16.0539	0.80782	0.0:1.0:0.0:0.0	.	441	O60391	NMD3B_HUMAN	V	441	ENSP00000234389:A441V	ENSP00000234389:A441V	A	+	2	0	GRIN3B	955822	1.000000	0.71417	0.041000	0.18516	0.144000	0.21451	4.406000	0.59748	2.146000	0.66826	0.485000	0.47835	GCG			0.672	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000103923.2			
PNPLA6	10908	mdanderson.org	37	19	7615244	7615244	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr19:7615244G>T	ENST00000221249.6	+	18	2189	c.1758G>T	c.(1756-1758)atG>atT	p.M586I	PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000545201.2_Missense_Mutation_p.M560I|PNPLA6_ENST00000450331.3_Missense_Mutation_p.M586I|PNPLA6_ENST00000600737.1_Missense_Mutation_p.M625I|PNPLA6_ENST00000414982.3_Missense_Mutation_p.M634I	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	625					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CAGCCAGGATGTCGCCCTTCG	0.647																																					p.M634I													.	.			0			c.G1902T												54.0	51.0	52.0					19																	7615244		2202	4298	6500	SO:0001583	missense	10908	exon17			CAGGATGTCGCCC	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1758G>T	19.37:g.7615244G>T	ENSP00000221249:p.Met586Ile		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	50	0.06	3	NM_001166111	13	0.00	0	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.847797	0.71603	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.04119	3.72;3.79;3.7;3.72	5.1	4.04	0.47022	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.040997	0.85682	N	0.000000	T	0.06735	0.0172	L	0.48174	1.505	0.80722	D	1	B;B;B;B	0.33044	0.275;0.395;0.395;0.01	B;B;B;B	0.33620	0.08;0.167;0.167;0.037	T	0.19745	-1.0296	10	0.72032	D	0.01	.	13.2834	0.60228	0.0:0.1605:0.8395:0.0	.	625;560;625;586	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	I	586;560;634;586	ENSP00000221249:M586I;ENSP00000443323:M560I;ENSP00000407509:M634I;ENSP00000394348:M586I	ENSP00000221249:M586I	M	+	3	0	PNPLA6	7521244	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.916000	0.87491	1.132000	0.42129	0.591000	0.81541	ATG			0.647	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000459275.1		NM_006702	
MAP1S	55201	mdanderson.org	37	19	17838171	17838171	+	Missense_Mutation	SNP	C	C	T	rs148935661		TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr19:17838171C>T	ENST00000324096.4	+	5	2129	c.1978C>T	c.(1978-1980)Cgg>Tgg	p.R660W	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000597681.1_3'UTR|MAP1S_ENST00000544059.2_Missense_Mutation_p.R634W	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	660	Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GAGCCCACTGCGGGGCGGGGA	0.721																																					p.R660W													.	.			0			c.C1978T												5.0	6.0	6.0					19																	17838171		2062	4056	6118	SO:0001583	missense	55201	exon5			CCACTGCGGGGCG	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.1978C>T	19.37:g.17838171C>T	ENSP00000325313:p.Arg660Trp		Somatic	20	0	0		WXS	Illumina HiSeq	Phase_I	24	0.13	3	NM_018174	77	0.00	0	B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745058	0.49151	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.20069	2.1;2.1	3.77	2.72	0.32119	.	0.000000	0.43579	D	0.000552	T	0.36908	0.0984	L	0.53249	1.67	0.25163	N	0.990333	D;D	0.89917	1.0;1.0	D;D	0.80764	0.992;0.994	T	0.06917	-1.0800	10	0.87932	D	0	-20.9085	9.2282	0.37421	0.0:0.8863:0.0:0.1137	.	634;660	B4DH53;Q66K74	.;MAP1S_HUMAN	W	660;634	ENSP00000325313:R660W;ENSP00000439243:R634W	ENSP00000325313:R660W	R	+	1	2	MAP1S	17699171	0.001000	0.12720	0.304000	0.25085	0.507000	0.33981	0.577000	0.23758	0.679000	0.31345	0.484000	0.47621	CGG			0.721	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466027.1		NM_018174	
ZNF208	7757	mdanderson.org	37	19	22157461	22157461	+	Silent	SNP	C	C	T			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr19:22157461C>T	ENST00000397126.4	-	4	523	c.375G>A	c.(373-375)gtG>gtA	p.V125V	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	125					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTTCTTTGTGCACCTTACACT	0.318																																					p.V125V													.	.			0			c.G375A												110.0	110.0	110.0					19																	22157461		2070	4242	6312	SO:0001819	synonymous_variant	7757	exon4			TTTGTGCACCTTA	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.375G>A	19.37:g.22157461C>T			Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	114	0.04	5	NM_007153	2	0.00	0		Silent	SNP	ENST00000397126.4	37	CCDS54240.1																																																																																					0.318	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464302.1		NM_007153	
DMKN	93099	mdanderson.org	37	19	35991442	35991442	+	Missense_Mutation	SNP	T	T	A	rs909072	byFrequency	TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr19:35991442T>A	ENST00000339686.3	-	12	1456	c.1280A>T	c.(1279-1281)gAc>gTc	p.D427V	DMKN_ENST00000414866.2_Missense_Mutation_p.D140V|DMKN_ENST00000480502.1_Missense_Mutation_p.D121V|DMKN_ENST00000472252.2_Missense_Mutation_p.D74V|DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000429837.1_Missense_Mutation_p.D386V|DMKN_ENST00000402589.2_Missense_Mutation_p.D140V|DMKN_ENST00000602781.1_Missense_Mutation_p.D140V|DMKN_ENST00000492341.2_Missense_Mutation_p.D74V|DMKN_ENST00000436012.1_Missense_Mutation_p.D123V|DMKN_ENST00000408915.2_Missense_Mutation_p.D41V|DMKN_ENST00000467637.1_Missense_Mutation_p.D152V|DMKN_ENST00000443640.1_Missense_Mutation_p.D190V|DMKN_ENST00000419602.1_Missense_Mutation_p.D416V	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	427			D -> A (in dbSNP:rs909072). {ECO:0000269|PubMed:15234001, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16374476, ECO:0000269|PubMed:17380110}.			extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CACCTGATCGTCTCTGCCTGC	0.597																																					p.D427V													.	.			0			c.A1280T												83.0	53.0	63.0					19																	35991442		2203	4300	6503	SO:0001583	missense	93099	exon12			TGATCGTCTCTGC	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.1280A>T	19.37:g.35991442T>A	ENSP00000342012:p.Asp427Val		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	72	0.04	3	NM_033317	69	0.00	0	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	CCDS12463.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	0.948|0.948|0.948	-0.707322|-0.707322|-0.707322	0.03230|0.03230|0.03230	.|.|.	.|.|.	ENSG00000161249|ENSG00000161249|ENSG00000161249	ENST00000408915;ENST00000402589;ENST00000339686;ENST00000436012;ENST00000414866;ENST00000429837;ENST00000419602;ENST00000443640|ENST00000434389|ENST00000443857	T;T;T;T;T;T;T;T|T|.	0.31510|0.29917|.	1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49|1.55|.	4.11|4.11|4.11	4.11|4.11|4.11	0.48088|0.48088|0.48088	.|.|.	0.180634|.|.	0.26971|.|.	N|.|.	0.021563|.|.	T|T|T	0.19525|0.19525|0.19525	0.0469|0.0469|0.0469	N|N|N	0.08118|0.08118|0.08118	0|0|0	0.20489|0.20489|0.20489	N|N|N	0.999893|0.999893|0.999893	B;B;B;B;B;B;B;B;B;B|.|.	0.17038|.|.	0.02;0.0;0.0;0.001;0.006;0.001;0.0;0.0;0.0;0.0|.|.	B;B;B;B;B;B;B;B;B;B|.|.	0.18871|.|.	0.023;0.0;0.0;0.001;0.014;0.001;0.0;0.0;0.0;0.0|.|.	T|T|T	0.20338|0.20338|0.20338	-1.0278|-1.0278|-1.0278	10|7|5	0.72032|0.07644|.	D|T|.	0.01|0.81|.	-8.0194|-8.0194|-8.0194	9.4447|9.4447|9.4447	0.38690|0.38690|0.38690	0.0:0.0:0.7877:0.2123|0.0:0.0:0.7877:0.2123|0.0:0.0:0.7877:0.2123	.|.|.	83;83;103;121;416;386;427;140;190;41|.|.	Q6E0U4-12;Q6E0U4-11;Q6E0U4-10;Q6E0U4-9;C9J4P6;Q6E0U4-4;Q6E0U4;Q6E0U4-8;C9IYI1;Q6E0U4-15|.|.	.;.;.;.;.;.;DMKN_HUMAN;.;.;.|.|.	V|S|S	41;140;427;123;140;386;416;190|137|131	ENSP00000386225:D41V;ENSP00000384509:D140V;ENSP00000342012:D427V;ENSP00000412075:D123V;ENSP00000392222:D140V;ENSP00000405503:D386V;ENSP00000391036:D416V;ENSP00000406864:D190V|ENSP00000388378:R137S|.	ENSP00000342012:D427V|ENSP00000388378:R137S|.	D|R|T	-|-|-	2|3|1	0|2|0	DMKN|DMKN|DMKN	40683282|40683282|40683282	0.007000|0.007000|0.007000	0.16637|0.16637|0.16637	0.051000|0.051000|0.051000	0.19133|0.19133|0.19133	0.085000|0.085000|0.085000	0.17905|0.17905|0.17905	1.674000|1.674000|1.674000	0.37544|0.37544|0.37544	1.085000|1.085000|1.085000	0.41206|0.41206|0.41206	-0.445000|-0.445000|-0.445000	0.05633|0.05633|0.05633	GAC|AGA|ACG			0.597	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000109461.2		NM_033317	
KLC3	147700	mdanderson.org	37	19	45849918	45849918	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr19:45849918G>C	ENST00000391946.2	+	3	477	c.375G>C	c.(373-375)gaG>gaC	p.E125D	KLC3_ENST00000470402.1_Missense_Mutation_p.E139D|KLC3_ENST00000585434.1_Missense_Mutation_p.E125D	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	125					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		AACTGGAGGAGACGCAGCGGC	0.701																																					p.E125D													.	.			0			c.G375C												4.0	7.0	6.0					19																	45849918		1975	4036	6011	SO:0001583	missense	147700	exon3			GGAGGAGACGCAG	AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"""Tetratricopeptide (TTC) repeat domain containing"""	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.375G>C	19.37:g.45849918G>C	ENSP00000375810:p.Glu125Asp		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	18	0.11	2	NM_177417	2	0.00	0	A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Missense_Mutation	SNP	ENST00000391946.2	37	CCDS12660.2	.	.	.	.	.	.	.	.	.	.	G	10.69	1.420459	0.25639	.	.	ENSG00000104892	ENST00000391946;ENST00000470402	T;T	0.45668	0.89;0.89	4.26	4.26	0.50523	Rabaptin, GTPase-Rab5 binding (1);	0.358164	0.25461	N	0.030513	T	0.27169	0.0666	N	0.24115	0.695	0.27681	N	0.946443	B;B;B	0.33807	0.248;0.426;0.292	B;B;B	0.33042	0.097;0.14;0.157	T	0.12426	-1.0548	10	0.29301	T	0.29	13.6058	10.4151	0.44316	0.0:0.1991:0.8009:0.0	.	125;139;125	Q6P597-2;Q6P597-3;Q6P597	.;.;KLC3_HUMAN	D	125;139	ENSP00000375810:E125D;ENSP00000436019:E139D	ENSP00000375810:E125D	E	+	3	2	KLC3	50541758	0.838000	0.29461	1.000000	0.80357	0.951000	0.60555	-0.061000	0.11693	2.390000	0.81377	0.455000	0.32223	GAG			0.701	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000289776.1		NM_145275	
AP2A1	160	mdanderson.org	37	19	50295218	50295218	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr19:50295218G>T	ENST00000359032.5	+	5	500	c.500G>T	c.(499-501)aGt>aTt	p.S167I	AP2A1_ENST00000354293.5_Missense_Mutation_p.S167I|AP2A1_ENST00000600199.1_3'UTR	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	167					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		GTCAAGCAGAGTGCGGCCCTG	0.642																																					p.S167I													.	.			0			c.G500T												65.0	72.0	69.0					19																	50295218		2177	4257	6434	SO:0001583	missense	160	exon5			AGCAGAGTGCGGC	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.500G>T	19.37:g.50295218G>T	ENSP00000351926:p.Ser167Ile		Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	50	0.06	3	NM_130787	31	0.00	0	Q96CI7|Q96PP6|Q96PP7|Q9H070	Missense_Mutation	SNP	ENST00000359032.5	37	CCDS46148.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526428	0.64860	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	T;T	0.27402	1.67;1.67	5.01	5.01	0.66863	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.120635	0.56097	D	0.000037	T	0.60327	0.2260	M	0.83012	2.62	0.53005	D	0.999967	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67241	-0.5720	10	0.87932	D	0	.	17.1021	0.86652	0.0:0.0:1.0:0.0	.	167;167	O95782-2;O95782	.;AP2A1_HUMAN	I	167	ENSP00000346246:S167I;ENSP00000351926:S167I	ENSP00000346246:S167I	S	+	2	0	AP2A1	54987030	1.000000	0.71417	0.986000	0.45419	0.611000	0.37282	3.633000	0.54295	2.334000	0.79466	0.655000	0.94253	AGT			0.642	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000465809.1			
ZNF525	170958	broad.mit.edu	37	19	53879043	53879043	+	Silent	SNP	T	T	C	rs62115350		TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr19:53879043T>C	ENST00000475179.1	+	3	150	c.36T>C	c.(34-36)gaT>gaC	p.D12D	ZNF525_ENST00000491101.1_Silent_p.D12D|ZNF525_ENST00000593918.1_Silent_p.D12D|ZNF525_ENST00000467003.1_5'UTR|ZNF525_ENST00000474037.1_Silent_p.D12D			Q8N782	ZN525_HUMAN	zinc finger protein 525	0					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)			endometrium(3)|kidney(3)|lung(3)	9						CATTCAGGGATGTGGCCATAG	0.448																																					.													.	ZNF525	35		0			.																																									SO:0001819	synonymous_variant	170958	.			CAGGGATGTGGCC	AB075859		19q13.42	2013-01-16			ENSG00000203326	ENSG00000203326		"""Zinc fingers, C2H2-type"", ""-"""	29423	protein-coding gene	gene with protein product						11853319	Standard	NR_003699		Approved	KIAA1979	uc010eqn.3	Q8N782	OTTHUMG00000158277	ENST00000475179.1:c.36T>C	19.37:g.53879043T>C			Somatic	41	0.0487804878	2		WXS	Illumina HiSeq	Phase_I	50	0.08	4	.	1	0.00	0	Q8TF23	Silent	SNP	ENST00000475179.1	37																																																																																						0.448	ZNF525-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000350553.1		NR_003699	
ANKRD36C	400986	ucsc.edu	37	2	96643871	96643871	+	Splice_Site	SNP	T	T	C	rs201215924		TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr2:96643871T>C	ENST00000456556.1	-	6	882	c.798A>G	c.(796-798)ccA>ccG	p.P266P				Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	266							ion channel inhibitor activity (GO:0008200)	p.P266P(2)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAATCTTACCTGGATTGCTAT	0.239																																					.													ENSG00000174501,NS,carcinoma,0,2	.		2	2	Substitution - coding silent(2)	endometrium(1)|kidney(1)	.																																									SO:0001630	splice_region_variant	400986	.			CTTACCTGGATTG	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.799+1A>G	2.37:g.96643871T>C			Somatic	126	0.0793650794	10		WXS	Illumina HiSeq		89	0.15	13	.	0		0	C9JZ08|Q15694|Q53S06|Q658V2	Silent	SNP	ENST00000456556.1	37																																																																																						0.239	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000338799.2		NM_001010914	Silent
WDR33	55339	mdanderson.org	37	2	128480869	128480869	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr2:128480869G>T	ENST00000322313.4	-	12	1407	c.1249C>A	c.(1249-1251)Cta>Ata	p.L417I		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	417					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		AAAAGGTTTAGATTATATCGA	0.358																																					p.L417I													.	.			0			c.C1249A												149.0	159.0	155.0					2																	128480869		2203	4300	6503	SO:0001583	missense	55339	exon12			GGTTTAGATTATA		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.1249C>A	2.37:g.128480869G>T	ENSP00000325377:p.Leu417Ile		Somatic	108	0	0		WXS	Illumina HiSeq	Phase_I	103	0.05	5	NM_018383	4	0.00	0	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618592	0.46736	.	.	ENSG00000136709	ENST00000322313	D	0.90261	-2.64	5.24	4.33	0.51752	.	0.000000	0.64402	D	0.000001	D	0.92315	0.7562	M	0.62723	1.935	0.80722	D	1	D	0.63880	0.993	D	0.70016	0.967	D	0.89820	0.3988	10	0.31617	T	0.26	-10.0897	5.988	0.19444	0.376:0.0:0.624:0.0	.	417	Q9C0J8	WDR33_HUMAN	I	417	ENSP00000325377:L417I	ENSP00000325377:L417I	L	-	1	2	WDR33	128197339	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.829000	0.39121	1.236000	0.43740	0.655000	0.94253	CTA			0.358	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000331141.2		NM_018383	
TLK1	9874	broad.mit.edu	37	2	171911637	171911637	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr2:171911637G>T	ENST00000431350.2	-	7	999	c.595C>A	c.(595-597)Cac>Aac	p.H199N	TLK1_ENST00000360843.3_Missense_Mutation_p.H220N|TLK1_ENST00000486857.1_5'UTR|TLK1_ENST00000434911.2_Missense_Mutation_p.H103N|TLK1_ENST00000521943.1_Missense_Mutation_p.H151N|TLK1_ENST00000442919.2_Missense_Mutation_p.H151N			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	199					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ACAATAGGGTGGTCCCCAAAT	0.284																																					p.H199N													.	TLK1	134		0			c.C595A												50.0	54.0	52.0					2																	171911637		2201	4298	6499	SO:0001583	missense	9874	exon7			TAGGGTGGTCCCC	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.595C>A	2.37:g.171911637G>T	ENSP00000411099:p.His199Asn		Somatic	602	0.0016611296	1		WXS	Illumina HiSeq	Phase_I	568	0.01	6	NM_012290	6	0.00	0	B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	ENST00000431350.2	37	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935675	0.52972	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911;ENST00000453628	T;T;T;T;T;T	0.62232	0.08;0.05;0.04;0.08;0.06;2.08	5.5	5.5	0.81552	.	0.099468	0.64402	D	0.000001	T	0.56307	0.1976	L	0.45581	1.43	0.58432	D	0.999992	B;B;P	0.38048	0.167;0.03;0.616	B;B;B	0.32677	0.15;0.036;0.15	T	0.57306	-0.7834	10	0.37606	T	0.19	.	19.4028	0.94637	0.0:0.0:1.0:0.0	.	103;220;199	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	N	151;199;220;151;103;124	ENSP00000402165:H151N;ENSP00000411099:H199N;ENSP00000354089:H220N;ENSP00000428113:H151N;ENSP00000409222:H103N;ENSP00000393165:H124N	ENSP00000354089:H220N	H	-	1	0	TLK1	171619883	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.239000	0.78182	2.592000	0.87571	0.585000	0.79938	CAC			0.284	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255314.1		NM_012290	
FAM182B	728882	hgsc.bcm.edu	37	20	25755549	25755549	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr20:25755549C>A	ENST00000376403.1	-	3	785	c.407G>T	c.(406-408)gGc>gTc	p.G136V	FAM182B_ENST00000376404.2_Intron|FAM182B_ENST00000478164.1_Intron			Q5T319	F182B_HUMAN	family with sequence similarity 182, member B	136										lung(1)	1						TGGTCTGCAGCCTTCCTGGGA	0.716																																					.													FAM182B,colon,carcinoma,0,1	FAM182B	0	1	0			.																																									SO:0001583	missense	728882	.			CTGCAGCCTTCCT			20p11.1	2010-07-14			ENSG00000175170	ENSG00000175170			34503	pseudogene	pseudogene							Standard	NR_027061		Approved			Q5T319	OTTHUMG00000032136	ENST00000376403.1:c.407G>T	20.37:g.25755549C>A	ENSP00000365585:p.Gly136Val		Somatic	70	0.0285714286	2		WXS	Illumina HiSeq	.	65	0.09	6	.	4	0.00	0	Q4G0Q1	RNA	SNP	ENST00000376403.1	37		.	.	.	.	.	.	.	.	.	.	.	1.024	-0.684035	0.03353	.	.	ENSG00000175170	ENST00000376403	.	.	.	.	.	.	.	.	.	.	.	T	0.39064	0.1064	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.39187	-0.9626	3	0.87932	D	0	.	.	.	.	.	.	.	.	V	136	.	ENSP00000365585:G136V	G	-	2	0	FAM182B	25703549	0.129000	0.22400	0.158000	0.22627	0.158000	0.22134	-0.337000	0.07852	0.064000	0.16427	0.064000	0.15345	GGC			0.716	FAM182B-003	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding		OTTHUMT00000078463.2		NR_026714	
ZBTB46	140685	mdanderson.org	37	20	62421958	62421958	+	Silent	SNP	G	G	T			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr20:62421958G>T	ENST00000245663.4	-	2	303	c.153C>A	c.(151-153)ggC>ggA	p.G51G	ZBTB46_ENST00000302995.2_Silent_p.G51G|ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000395104.1_Silent_p.G51G	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	51	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					AGCGGCTGCTGCCCAGCAGGA	0.642																																					p.G51G													.	.			0			c.C153A												61.0	51.0	55.0					20																	62421958		2203	4300	6503	SO:0001819	synonymous_variant	140685	exon2			GCTGCTGCCCAGC	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.153C>A	20.37:g.62421958G>T			Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	28	0.11	3	NM_025224	6	0.00	0	E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Silent	SNP	ENST00000245663.4	37	CCDS13538.1																																																																																					0.642	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080232.2		NM_025224	
PRR14L	253143	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	32072978	32072978	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr22:32072978G>C	ENST00000397493.2	-	9	6398	c.6206C>G	c.(6205-6207)aCt>aGt	p.T2069S				Q5THK1	PR14L_HUMAN	proline rich 14-like	2069										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						TTCGCTGTCAGTGCTCGGGCA	0.552																																					.													.	.			0			.												27.0	29.0	29.0					22																	32072978		2203	4300	6503	SO:0001583	missense	253143	.			CTGTCAGTGCTCG	BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 30"""	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000397493.2:c.6206C>G	22.37:g.32072978G>C	ENSP00000380630:p.Thr2069Ser		Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	109	0.17	18	.	0		0	Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	ENST00000397493.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.12|10.12	1.263524|1.263524	0.23136|0.23136	.|.	.|.	ENSG00000183530|ENSG00000183530	ENST00000330495|ENST00000397493	.|T	.|0.05447	.|3.44	1.72|1.72	1.72|1.72	0.24424|0.24424	.|.	.|.	.|.	.|.	.|.	T|T	0.05364|0.05364	0.0142|0.0142	.|.	.|.	.|.	0.22728|0.22728	N|N	0.998803|0.998803	.|B	.|0.22146	.|0.065	.|B	.|0.19391	.|0.025	T|T	0.32771|0.32771	-0.9894|-0.9894	4|8	.|0.66056	.|D	.|0.02	.|.	6.9758|6.9758	0.24674|0.24674	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2069	.|Q5THK1-4	.|.	Q|S	371|2069	.|ENSP00000380630:T2069S	.|ENSP00000380630:T2069S	H|T	-|-	3|2	2|0	PRR14L|PRR14L	30402978|30402978	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.016000|0.016000	0.09150|0.09150	0.098000|0.098000	0.15189|0.15189	1.294000|1.294000	0.44707|0.44707	0.499000|0.499000	0.49734|0.49734	CAC|ACT			0.552	PRR14L-201	KNOWN	basic	protein_coding	protein_coding				NM_173566	
PRR14L	253143	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	32072995	32072995	+	Missense_Mutation	SNP	A	A	C			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr22:32072995A>C	ENST00000397493.2	-	9	6381	c.6189T>G	c.(6187-6189)gaT>gaG	p.D2063E				Q5THK1	PR14L_HUMAN	proline rich 14-like	2063										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						GGCAGCTAGAATCCAGGTCCC	0.557																																					.													.	.			0			.												25.0	28.0	27.0					22																	32072995		2202	4299	6501	SO:0001583	missense	253143	.			GCTAGAATCCAGG	BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 30"""	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000397493.2:c.6189T>G	22.37:g.32072995A>C	ENSP00000380630:p.Asp2063Glu		Somatic	103	0	0		WXS	Illumina HiSeq	Phase_I	91	0.18	16	.	0		0	Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	ENST00000397493.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.007|0.007	-1.962721|-1.962721	0.00461|0.00461	.|.	.|.	ENSG00000183530|ENSG00000183530	ENST00000397493|ENST00000330495	T|.	0.01902|.	4.57|.	1.72|1.72	-2.03|-2.03	0.07365|0.07365	.|.	.|.	.|.	.|.	.|.	T|T	0.20618|0.20618	0.0496|0.0496	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999994|0.999994	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.24941|0.24941	-1.0146|-1.0146	8|4	0.02654|.	T|.	1|.	.|.	3.0429|3.0429	0.06143|0.06143	0.4273:0.2403:0.3324:0.0|0.4273:0.2403:0.3324:0.0	.|.	2063|.	Q5THK1-4|.	.|.	E|V	2063|366	ENSP00000380630:D2063E|.	ENSP00000380630:D2063E|.	D|F	-|-	3|1	2|0	PRR14L|PRR14L	30402995|30402995	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.107000|-0.107000	0.10873|0.10873	-0.774000|-0.774000	0.04590|0.04590	-2.235000|-2.235000	0.00290|0.00290	GAT|TTC			0.557	PRR14L-201	KNOWN	basic	protein_coding	protein_coding				NM_173566	
CNTN4	152330	broad.mit.edu	37	3	3067877	3067877	+	Silent	SNP	G	G	T	rs375250470		TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr3:3067877G>T	ENST00000397461.1	+	14	1962	c.1578G>T	c.(1576-1578)tcG>tcT	p.S526S	CNTN4_ENST00000418658.1_Silent_p.S526S|CNTN4_ENST00000448906.2_Silent_p.S198S|CNTN4_ENST00000358480.3_Silent_p.S307S|CNTN4_ENST00000397459.2_Silent_p.S198S|CNTN4_ENST00000427331.1_Silent_p.S526S	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	526	Ig-like C2-type 6.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATGATCACTCGCTAGACATCG	0.448																																					p.S526S													CNTN4_ENST00000418658,NS,carcinoma,0,2	CNTN4	335	2	0			c.G1578T												189.0	157.0	168.0					3																	3067877		2203	4300	6503	SO:0001819	synonymous_variant	152330	exon15			TCACTCGCTAGAC	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1578G>T	3.37:g.3067877G>T			Somatic	176	0.0056818182	1		WXS	Illumina HiSeq	Phase_I	216	0.02	5	NM_175607	0		0	B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	CCDS43041.1																																																																																					0.448	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239236.2			
DCUN1D4	23142	broad.mit.edu	37	4	52777312	52777312	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr4:52777312T>C	ENST00000334635.5	+	9	872	c.692T>C	c.(691-693)cTt>cCt	p.L231P	DCUN1D4_ENST00000381441.3_Intron|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L171P|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L275P	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	231	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			ATCTGGCCCCTTTTTCCAGTT	0.383																																					p.L231P													.	DCUN1D4	26		0			c.T692C												121.0	119.0	119.0					4																	52777312		2203	4300	6503	SO:0001583	missense	23142	exon9			GGCCCCTTTTTCC	D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"""DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"""			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.692T>C	4.37:g.52777312T>C	ENSP00000334625:p.Leu231Pro		Somatic	130	0.0076923077	1		WXS	Illumina HiSeq	Phase_I	128	0.03	4	NM_001040402	5	0.00	0	B4DH25|Q7Z3F3|Q7Z6B8	Missense_Mutation	SNP	ENST00000334635.5	37	CCDS33982.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.683870	0.88639	.	.	ENSG00000109184	ENST00000334635;ENST00000381437;ENST00000451288;ENST00000510808	T;T;T	0.69306	-0.39;-0.39;-0.39	5.97	5.97	0.96955	Domain of unknown function DUF298 (2);	0.000000	0.85682	D	0.000000	D	0.86339	0.5909	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89414	0.3705	10	0.62326	D	0.03	-14.1468	15.642	0.77012	0.0:0.0:0.0:1.0	.	275;231	B4DH25;Q92564	.;DCNL4_HUMAN	P	231;171;275;41	ENSP00000334625:L231P;ENSP00000370846:L171P;ENSP00000389900:L275P	ENSP00000334625:L231P	L	+	2	0	DCUN1D4	52472069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.288000	0.76882	0.533000	0.62120	CTT			0.383	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000250599.2		NM_015115	
ADH4	127	broad.mit.edu	37	4	100052899	100052899	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr4:100052899G>T	ENST00000265512.7	-	6	673	c.599C>A	c.(598-600)aCt>aAt	p.T200N	ADH4_ENST00000423445.1_Missense_Mutation_p.T219N|ADH4_ENST00000505590.1_Missense_Mutation_p.T219N|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000508393.1_Missense_Mutation_p.T219N	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	200					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		GACAGCACAAGTCGAACCAGG	0.463																																					p.T200N													.	ADH4	35		0			c.C599A												52.0	53.0	52.0					4																	100052899		2203	4299	6502	SO:0001583	missense	127	exon6			GCACAAGTCGAAC	M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"""Alcohol dehydrogenases"""	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.599C>A	4.37:g.100052899G>T	ENSP00000265512:p.Thr200Asn		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	66	0.05	3	NM_000670	0		0	A8K470|B4DIE7|C9J4A9|Q8TCD7	Missense_Mutation	SNP	ENST00000265512.7	37	CCDS34032.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184173	0.38609	.	.	ENSG00000198099	ENST00000508393;ENST00000265512;ENST00000423445;ENST00000505590;ENST00000512499;ENST00000504125	T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;3.42;3.45	4.39	4.39	0.52855	GroES-like (1);	0.229288	0.35870	N	0.002924	T	0.49321	0.1550	M	0.75447	2.3	0.80722	D	1	B;P	0.47962	0.379;0.903	B;P	0.60117	0.259;0.869	T	0.52909	-0.8512	10	0.54805	T	0.06	-4.1236	17.1908	0.86879	0.0:0.0:1.0:0.0	.	219;200	P08319-2;P08319	.;ADH4_HUMAN	N	219;200;219;219;219;182	ENSP00000424630:T219N;ENSP00000265512:T200N;ENSP00000397939:T219N;ENSP00000425416:T219N;ENSP00000423571:T219N;ENSP00000427525:T182N	ENSP00000265512:T200N	T	-	2	0	ADH4	100271922	0.997000	0.39634	0.154000	0.22540	0.215000	0.24574	2.467000	0.45093	2.295000	0.77249	0.650000	0.86243	ACT			0.463	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000364220.2		NM_000670	
PCDH18	54510	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	138450831	138450831	+	Silent	SNP	A	A	G			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr4:138450831A>G	ENST00000344876.4	-	1	2798	c.2412T>C	c.(2410-2412)agT>agC	p.S804S	PCDH18_ENST00000507846.1_Silent_p.S584S|PCDH18_ENST00000510305.1_Silent_p.S15S|PCDH18_ENST00000412923.2_Silent_p.S804S|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	804					brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TTGTCACCAAACTGTTGAGTG	0.478																																					p.S804S													.	.			0			c.T2412C												132.0	114.0	120.0					4																	138450831		2203	4300	6503	SO:0001819	synonymous_variant	54510	exon1			CACCAAACTGTTG	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2412T>C	4.37:g.138450831A>G			Somatic	123	0	0		WXS	Illumina HiSeq	.	112	0.49	55	NM_019035	1	0.00	0	A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	ENST00000344876.4	37	CCDS34064.1																																																																																					0.478	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000364614.1		NM_019035	
RBM46	166863	mdanderson.org	37	4	155718042	155718042	+	Silent	SNP	C	C	T			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr4:155718042C>T	ENST00000281722.3	+	2	373	c.138C>T	c.(136-138)ggC>ggT	p.G46G	RBM46_ENST00000514866.1_Silent_p.G46G|RBM46_ENST00000510397.1_Silent_p.G46G	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	46							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GGAAATTTGGCGGTCCTCCTC	0.378																																					p.G46G													.	.			0			c.C138T												109.0	105.0	106.0					4																	155718042		2203	4300	6503	SO:0001819	synonymous_variant	166863	exon2			ATTTGGCGGTCCT	BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"""RNA binding motif (RRM) containing"""	28401	protein-coding gene	gene with protein product	"""cancer/testis antigen 68"""					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.138C>T	4.37:g.155718042C>T			Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	39	0.08	3	NM_144979	1	0.00	0	B3KWU8|B4DZ27	Silent	SNP	ENST00000281722.3	37	CCDS3790.1																																																																																					0.378	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365259.1		NM_144979	
CAMK4	814	broad.mit.edu	37	5	110819728	110819728	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr5:110819728C>T	ENST00000282356.4	+	11	1384	c.986C>T	c.(985-987)gCg>gTg	p.A329V	CAMK4_ENST00000512453.1_Missense_Mutation_p.A329V|CAMK4_ENST00000512890.1_3'UTR	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	329	Calmodulin-binding. {ECO:0000255}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.A329E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		AATCAGGCAGCGGTGAAGGCT	0.542																																					p.A329V													CAMK4,NS,carcinoma,0,1	CAMK4	77	1	1	Substitution - Missense(1)	ovary(1)	c.C986T												32.0	34.0	33.0					5																	110819728		2201	4295	6496	SO:0001583	missense	814	exon11			AGGCAGCGGTGAA	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.986C>T	5.37:g.110819728C>T	ENSP00000282356:p.Ala329Val		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	143	0.03	4	NM_001744	0		0	D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267530	0.95399	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.70282	-0.47;-0.47	5.81	5.81	0.92471	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.82999	0.5159	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.83473	0.0060	10	0.87932	D	0	.	20.0749	0.97738	0.0:1.0:0.0:0.0	.	329	Q16566	KCC4_HUMAN	V	329	ENSP00000422634:A329V;ENSP00000282356:A329V	ENSP00000282356:A329V	A	+	2	0	CAMK4	110847627	1.000000	0.71417	0.744000	0.31058	0.989000	0.77384	5.526000	0.67116	2.759000	0.94783	0.591000	0.81541	GCG			0.542	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250719.2		NM_001744	
HLA-H	3136	hgsc.bcm.edu	37	6	29856882	29856882	+	IGR	SNP	C	C	G			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr6:29856882C>G								HLA-G (57980 upstream) : HLA-A (52154 downstream)																							CCCTCAGCCTCCACTCAGGTC	0.552																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	3136	.			CAGCCTCCACTCA																													6.37:g.29856882C>G			Somatic	42	0	0		WXS	Illumina HiSeq	.	66	0.08	5	.	2	0.00	0		RNA	SNP		37																																																																																					0	0.552										
TNXB	7148	mdanderson.org	37	6	32064279	32064279	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr6:32064279C>A	ENST00000479795.1	-	3	1491	c.1351G>T	c.(1351-1353)Gtt>Ttt	p.V451F	TNXB_ENST00000375247.2_Missense_Mutation_p.V451F|TNXB_ENST00000375244.3_Missense_Mutation_p.V451F			P22105	TENX_HUMAN	tenascin XB	451	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCATTGCAAACACACACGCCG	0.692																																					p.V451F													.	.			0			c.G1351T												11.0	12.0	12.0					6																	32064279		1979	4001	5980	SO:0001583	missense	7148	exon3			TGCAAACACACAC	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.1351G>T	6.37:g.32064279C>A	ENSP00000418248:p.Val451Phe		Somatic	17	0	0		WXS	Illumina HiSeq	Phase_I	19	0.11	2	NM_019105	0		0	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000479795.1	37		.	.	.	.	.	.	.	.	.	.	C	15.46	2.839926	0.51057	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;T	0.11495	2.77;2.77;2.77	4.26	3.39	0.38822	.	0.000000	0.38164	N	0.001787	T	0.15003	0.0362	M	0.85197	2.74	0.31698	N	0.641055	D	0.89917	1.0	D	0.85130	0.997	T	0.10543	-1.0625	10	0.13108	T	0.6	.	6.7542	0.23503	0.0:0.7813:0.0:0.2187	.	451	P22105-3	.	F	451	ENSP00000364393:V451F;ENSP00000364396:V451F;ENSP00000418248:V451F	ENSP00000364393:V451F	V	-	1	0	TNXB	32172257	0.000000	0.05858	0.987000	0.45799	0.561000	0.35649	0.091000	0.15046	0.769000	0.33313	0.313000	0.20887	GTT			0.692	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000357059.1		NM_019105	
DAAM2	23500	mdanderson.org	37	6	39869697	39869697	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr6:39869697C>T	ENST00000398904.2	+	25	3273	c.3091C>T	c.(3091-3093)Cgc>Tgc	p.R1031C	DAAM2_ENST00000274867.4_Missense_Mutation_p.R1031C|DAAM2_ENST00000538976.1_Missense_Mutation_p.R1030C|RP11-61I13.3_ENST00000437947.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	1031	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GTCGGCCCTGCGCTCTGGGGA	0.642																																					p.R1031C													.	.			0			c.C3091T												37.0	46.0	43.0					6																	39869697		2104	4220	6324	SO:0001583	missense	23500	exon25			GCCCTGCGCTCTG	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.3091C>T	6.37:g.39869697C>T	ENSP00000381876:p.Arg1031Cys		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	47	0.06	3	NM_001201427	0		0	G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835277	0.71373	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.83755	-1.67;-1.67;-1.76	5.63	5.63	0.86233	Actin-binding FH2/DRF autoregulatory (1);Diaphanous autoregulatory (1);	0.000000	0.85682	D	0.000000	D	0.88570	0.6472	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.988	D	0.89556	0.3803	10	0.87932	D	0	.	14.1652	0.65473	0.1877:0.8123:0.0:0.0	.	1030;1031	G5EA45;Q86T65	.;DAAM2_HUMAN	C	1031;1031;1030	ENSP00000274867:R1031C;ENSP00000381876:R1031C;ENSP00000437808:R1030C	ENSP00000274867:R1031C	R	+	1	0	DAAM2	39977675	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	4.103000	0.57783	2.651000	0.90000	0.650000	0.86243	CGC			0.642	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000280648.1			
RP11-235G24.1	0	broad.mit.edu	37	6	161326647	161326648	+	lincRNA	INS	-	-	T	rs112724223		TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr6:161326647_161326648insT	ENST00000454826.1	-	0	207																											TGAATCTATTGTTTTTTTTTAT	0.371																																					.													.	.			0			.																																											0	.			TCTATTGTTTTTT																													6.37:g.161326656_161326656dupT			Somatic	9	0	0		WXS	Illumina HiSeq	Phase_I	6	0.33	2	.	0		0		RNA	INS	ENST00000454826.1	37																																																																																						0.371	RP11-235G24.1-001	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000042968.1			
PMS2	5395	broad.mit.edu	37	7	6026444	6026444	+	Missense_Mutation	SNP	T	T	C	rs267608167		TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr7:6026444T>C	ENST00000265849.7	-	11	2057	c.1952A>G	c.(1951-1953)aAg>aGg	p.K651R	PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.K545R	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	651					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AGGACAAATCTTTGCCCTAAA	0.328			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.K651R			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	.	PMS2	88		0			c.A1952G												89.0	86.0	87.0					7																	6026444		2203	4300	6503	SO:0001583	missense	5395	exon11	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	CAAATCTTTGCCC		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1952A>G	7.37:g.6026444T>C	ENSP00000265849:p.Lys651Arg		Somatic	388	0.0025773196	1		WXS	Illumina HiSeq	Phase_I	503	0.01	5	NM_000535	15	0.00	0	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	t	13.77	2.335511	0.41398	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476	T;T	0.40225	1.04;1.04	5.82	0.829	0.18847	.	0.000000	0.85682	D	0.000000	T	0.45756	0.1358	M	0.77103	2.36	0.47476	D	0.999431	B;B	0.33583	0.021;0.418	B;B	0.40982	0.019;0.345	T	0.30909	-0.9962	10	0.35671	T	0.21	-19.6292	9.5139	0.39093	0.0:0.2623:0.0:0.7377	rs63751461	651;545	P54278;C9J167	PMS2_HUMAN;.	R	651;604;545	ENSP00000265849:K651R;ENSP00000392843:K545R	ENSP00000265849:K651R	K	-	2	0	PMS2	5992970	1.000000	0.71417	0.842000	0.33263	0.835000	0.47333	2.986000	0.49370	-0.068000	0.12953	-0.369000	0.07265	AAG			0.328	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207353.3		NM_000535	
EZH2	2146	broad.mit.edu	37	7	148512600	148512600	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr7:148512600T>C	ENST00000460911.1	-	13	1617	c.1529A>G	c.(1528-1530)aAg>aGg	p.K510R	EZH2_ENST00000320356.2_Missense_Mutation_p.K515R|EZH2_ENST00000541220.1_Missense_Mutation_p.K501R|EZH2_ENST00000350995.2_Missense_Mutation_p.K471R|EZH2_ENST00000478654.1_Missense_Mutation_p.K501R|EZH2_ENST00000483967.1_Missense_Mutation_p.K501R|EZH2_ENST00000476773.1_Missense_Mutation_p.K501R			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	510	CXC. {ECO:0000255|PROSITE- ProRule:PRU00970}.|Interaction with CDYL.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ATGCTAACCCTTTTTCAGCTG	0.368			Mis		DLBCL																																p.K515R				Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	.	EZH2	823		0			c.A1544G												150.0	144.0	146.0					7																	148512600		2203	4300	6503	SO:0001583	missense	0	exon13			TAACCCTTTTTCA		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1529A>G	7.37:g.148512600T>C	ENSP00000419711:p.Lys510Arg		Somatic	315	0	0		WXS	Illumina HiSeq	Phase_I	394	0.02	6	NM_004456	87	0.00	0	B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	t	27.5	4.839567	0.91117	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	D;D;D;D;D;D;D	0.94687	-3.44;-3.49;-3.49;-3.48;-3.44;-3.44;-3.49	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.96244	0.8775	L	0.60455	1.87	0.80722	D	1	P;P;D;P;D	0.76494	0.635;0.799;0.992;0.635;0.999	B;P;P;B;D	0.80764	0.347;0.465;0.765;0.347;0.994	D	0.95704	0.8752	10	0.38643	T	0.18	.	15.542	0.76057	0.0:0.0:0.0:1.0	.	501;501;510;471;515	Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;EZH2_HUMAN;.;.	R	501;515;510;471;501;501;501	ENSP00000417062:K501R;ENSP00000320147:K515R;ENSP00000419711:K510R;ENSP00000223193:K471R;ENSP00000443219:K501R;ENSP00000419050:K501R;ENSP00000419856:K501R	ENSP00000320147:K515R	K	-	2	0	EZH2	148143533	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.351000	0.79395	2.064000	0.61679	0.533000	0.62120	AAG			0.368	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000352744.1		NM_004456	
MLLT3	4300	hgsc.bcm.edu	37	9	20414373	20414373	+	Silent	SNP	G	G	A			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr9:20414373G>A	ENST00000380338.4	-	5	757	c.471C>T	c.(469-471)agC>agT	p.S157S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	157	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S157S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.527			T	MLL	ALL																																p.S157S				Dom	yes		9	9p22	4300	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""		L	MLLT3,NS,carcinoma,0,4	MLLT3	0	4	5	Substitution - coding silent(5)	endometrium(3)|urinary_tract(1)|prostate(1)	c.C471T												9.0	14.0	12.0					9																	20414373		1757	3647	5404	SO:0001819	synonymous_variant	4300	exon5			GCTGCTGCTACTG	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.471C>T	9.37:g.20414373G>A			Somatic	49	0.0204081633	1		WXS	Illumina HiSeq	.	60	0.08	5	NM_004529	1	0.00	0	B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	CCDS6494.1																																																																																					0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000051872.1		NM_004529	
GRHPR	9380	mdanderson.org	37	9	37428556	37428556	+	Silent	SNP	G	G	T			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr9:37428556G>T	ENST00000318158.6	+	5	565	c.480G>T	c.(478-480)ggG>ggT	p.G160G	GRHPR_ENST00000607784.1_Silent_p.G160G|GRHPR_ENST00000493368.1_3'UTR	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	160					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		GCATCATCGGGCTGGGGCGCA	0.657																																					p.G160G													.	.			0			c.G480T												72.0	73.0	73.0					9																	37428556		2203	4300	6503	SO:0001819	synonymous_variant	9380	exon5			CATCGGGCTGGGG	AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"""primary hyperoxaluria type 2"""	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.480G>T	9.37:g.37428556G>T			Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	50	0.06	3	NM_012203	198	0.01	1	Q5T945|Q9H3E9|Q9H636|Q9UKX1	Silent	SNP	ENST00000318158.6	37	CCDS6609.1																																																																																					0.657	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052442.1		NM_012203	
Unknown	0	bcgsc.ca	37	9	45363836	45363836	+	IGR	SNP	G	G	A	rs112572669		TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr9:45363836G>A								RP11-449H15.2 (151335 upstream) : RP11-187C18.5 (30008 downstream)																							GAGACAGAGCGGAACGCCCAC	0.577																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	100289027	.			CAGAGCGGAACGC																													9.37:g.45363836G>A			Somatic	34	0	0		WXS	Illumina HiSeq	Phase_1	33	0.21	7	.	0		0		RNA	SNP		37																																																																																					0	0.577										
PRRC2B	84726	broad.mit.edu	37	9	134305549	134305550	+	Missense_Mutation	DNP	GC	GC	AG			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	GC	GC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chr9:134305549_134305550GC>AG	ENST00000357304.4	+	1	73_74	c.18_19GC>AG	c.(16-21)ggGCaa>ggAGaa	p.Q7E	PRRC2B_ENST00000405995.1_Missense_Mutation_p.Q7E|PRRC2B_ENST00000458550.1_Missense_Mutation_p.Q7E	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	7							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						ATCGTTTGGGGCAAATTACCAA	0.411																																					p.Q7E													.	PRRC2B	266		0			c.C19G																																									SO:0001583	missense	84726	exon1			TTTGGGGCAAATT	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	Exception_encountered	9.37:g.134305549_134305550delinsAG	ENSP00000349856:p.Gln7Glu		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	217	0.03	6	NM_013318	4	0.00	0	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	DNP	ENST00000357304.4	37	CCDS48044.1																																																																																					0.411	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					
Unknown	0	bcgsc.ca	37	X	48306759	48306759	+	IGR	SNP	A	A	C			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chrX:48306759A>C								SSX4B (35415 upstream) : SLC38A5 (10160 downstream)																							AAAGGATGGTAATTGTGCGCA	0.393																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			GATGGTAATTGTG																													X.37:g.48306759A>C			Somatic	36	0.0277777778	1		WXS	Illumina HiSeq	Phase_1	46	0.41	19	.	0		0		RNA	SNP		37																																																																																					0	0.393										
SEPT6	23157	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	X	118774680	118774680	+	Silent	SNP	C	C	G			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chrX:118774680C>G	ENST00000343984.5	-	6	1026	c.762G>C	c.(760-762)cgG>cgC	p.R254R	SEPT6_ENST00000354228.4_Silent_p.R254R|SEPT6_ENST00000360156.7_Silent_p.R254R|SEPT6_ENST00000394617.2_Silent_p.R284R|SEPT6_ENST00000489216.1_Silent_p.R254R|SEPT6_ENST00000394616.4_Silent_p.R196R|SEPT6_ENST00000354416.3_Silent_p.R254R|SEPT6_ENST00000394610.1_Silent_p.R254R	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	254	Septin-type G.				cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						AAGGATACTGCCGCGCCCTCA	0.542			T	MLL	AML																																p.R254R				Dom	yes		X	Xq24	23157	septin 6		L	.	.			0			c.G762C												192.0	136.0	155.0					X																	118774680		2203	4300	6503	SO:0001819	synonymous_variant	23157	exon6			ATACTGCCGCGCC	D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"""Septins"""	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.762G>C	X.37:g.118774680C>G			Somatic	78	0	0		WXS	Illumina HiSeq	.	149	0.08	12	NM_145802	126	0.05	6	Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Silent	SNP	ENST00000343984.5	37	CCDS14584.1																																																																																					0.542	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000058059.1		NM_145802	
SAGE1	55511	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	134993829	134993829	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAFN-01A-31D-A42Y-10	TCGA-2G-AAFN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef2de696-2f9e-44e8-8445-af7a953aaa56	e4830f6d-72c5-4a5c-badb-a649ae2e82d7	g.chrX:134993829G>C	ENST00000370709.3	+	17	2238	c.2238G>C	c.(2236-2238)gaG>gaC	p.E746D	SAGE1_ENST00000324447.3_Missense_Mutation_p.E746D|SAGE1_ENST00000537770.1_Missense_Mutation_p.E370D|SAGE1_ENST00000535938.1_Missense_Mutation_p.E746D			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	746						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ATTCACCAGAGCTGATAAATA	0.443																																					p.E746D													.	.			0			c.G2238C												150.0	144.0	146.0					X																	134993829		2203	4300	6503	SO:0001583	missense	55511	exon18			ACCAGAGCTGATA	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2238G>C	X.37:g.134993829G>C	ENSP00000359743:p.Glu746Asp		Somatic	141	0	0		WXS	Illumina HiSeq	.	255	0.19	49	NM_018666	0		0	Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899942	0.33535	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.38077	1.16;1.16;1.2;1.16	2.67	0.291	0.15732	.	1.608440	0.03472	U	0.213872	T	0.47544	0.1451	M	0.72118	2.19	0.09310	N	1	P;D	0.58970	0.856;0.984	P;P	0.53224	0.721;0.712	T	0.38373	-0.9664	10	0.16896	T	0.51	.	7.4656	0.27320	0.0:0.0:0.3779:0.6221	.	370;746	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	D	746;746;370;746	ENSP00000323191:E746D;ENSP00000445959:E746D;ENSP00000438276:E370D;ENSP00000359743:E746D	ENSP00000323191:E746D	E	+	3	2	SAGE1	134821495	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.884000	0.04166	0.106000	0.17784	0.179000	0.17066	GAG			0.443	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058448.1		NM_018666	
