#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
PLEKHN1	84069	mdanderson.org	37	1	909350	909350	+	Silent	SNP	A	A	G			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr1:909350A>G	ENST00000379409.2	+	13	1758	c.1728A>G	c.(1726-1728)ggA>ggG	p.G576G	PLEKHN1_ENST00000379407.3_Silent_p.G489G|PLEKHN1_ENST00000379410.3_Silent_p.G524G			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	576										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CCAAGAAGGGAGCCCTGCAGT	0.697																																					p.G524G													.	.			0			c.A1572G												17.0	19.0	18.0					1																	909350		2188	4291	6479	SO:0001819	synonymous_variant	84069	exon14			GAAGGGAGCCCTG	AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"""Pleckstrin homology (PH) domain containing"""	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.1728A>G	1.37:g.909350A>G			Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	20	0.10	2	NM_032129	4	0.00	0	Q494U2|Q5SV98|Q9H0M7	Silent	SNP	ENST00000379409.2	37																																																																																						0.697	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000473256.1		NM_032129	
ACAP3	116983	mdanderson.org	37	1	1231205	1231205	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr1:1231205A>G	ENST00000354700.5	-	18	1818	c.1616T>C	c.(1615-1617)cTg>cCg	p.L539P	ACAP3_ENST00000379037.2_5'Flank|ACAP3_ENST00000353662.3_Missense_Mutation_p.L497P	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	539					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GTGGGGCCGCAGGCACTTCTG	0.662																																					p.L539P													.	.			0			c.T1616C												33.0	43.0	40.0					1																	1231205		2199	4296	6495	SO:0001583	missense	116983	exon18			GGCCGCAGGCACT	AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16754	protein-coding gene	gene with protein product			"""centaurin, beta 5"""	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.1616T>C	1.37:g.1231205A>G	ENSP00000346733:p.Leu539Pro		Somatic	20	0	0		WXS	Illumina HiSeq	Phase_I	18	0.17	3	NM_030649	28	0.00	0	B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Missense_Mutation	SNP	ENST00000354700.5	37	CCDS19.2	.	.	.	.	.	.	.	.	.	.	G	4.642	0.119394	0.08881	.	.	ENSG00000131584	ENST00000354700;ENST00000353662	T;T	0.27720	1.65;1.82	4.7	-7.57	0.01318	.	1.507990	0.04738	N	0.422355	T	0.11196	0.0273	N	0.08118	0	0.21933	N	0.999466	B;B	0.23249	0.082;0.002	B;B	0.21917	0.037;0.002	T	0.14952	-1.0454	10	0.28530	T	0.3	.	0.9982	0.01472	0.2589:0.1316:0.3117:0.2978	.	539;497	Q96P50;Q96P50-1	ACAP3_HUMAN;.	P	539;497	ENSP00000346733:L539P;ENSP00000321139:L497P	ENSP00000321139:L497P	L	-	2	0	ACAP3	1221068	0.000000	0.05858	0.070000	0.20053	0.010000	0.07245	-0.304000	0.08199	-1.527000	0.01758	-1.458000	0.01028	CTG			0.662	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000006366.2		NM_030649	
MEGF6	1953	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	1	3440791	3440791	+	Silent	SNP	G	G	T			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr1:3440791G>T	ENST00000356575.4	-	5	727	c.501C>A	c.(499-501)acC>acA	p.T167T	MEGF6_ENST00000294599.4_Silent_p.T62T	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	167	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CACCGTTGTGGGTTCGGCATT	0.652																																					p.T167T	Ovarian(73;978 3658)												.	.			0			c.C501A												55.0	68.0	64.0					1																	3440791		2057	4198	6255	SO:0001819	synonymous_variant	1953	exon5			GTTGTGGGTTCGG	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.501C>A	1.37:g.3440791G>T			Somatic	129	0	0		WXS	Illumina HiSeq	.	100	0.05	5	NM_001409	1	0.00	0	Q4AC86|Q5VV39	Silent	SNP	ENST00000356575.4	37	CCDS41237.1																																																																																					0.652	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354866.1		NM_001409	
TFAP2E	339488	mdanderson.org	37	1	36054040	36054040	+	Silent	SNP	G	G	A			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr1:36054040G>A	ENST00000373235.3	+	4	880	c.672G>A	c.(670-672)cgG>cgA	p.R224R		NM_178548.3	NP_848643.2			transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)											endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TGCCCGGCCGGCTTTCACTGC	0.647																																					p.R224R													.	.			0			c.G672A												122.0	105.0	111.0					1																	36054040		2203	4300	6503	SO:0001819	synonymous_variant	339488	exon4			CGGCCGGCTTTCA	BC041175	CCDS393.2	1p34.3	2008-02-05			ENSG00000116819	ENSG00000116819			30774	protein-coding gene	gene with protein product		614428				14636996	Standard	NM_178548		Approved	AP2E	uc010ohy.2	Q6VUC0	OTTHUMG00000004388	ENST00000373235.3:c.672G>A	1.37:g.36054040G>A			Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	41	0.07	3	NM_178548	0		0		Silent	SNP	ENST00000373235.3	37	CCDS393.2																																																																																					0.647	TFAP2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000012732.1		NM_178548	
OSCP1	127700	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	36888403	36888403	+	Missense_Mutation	SNP	A	A	T			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr1:36888403A>T	ENST00000356637.5	-	7	808	c.745T>A	c.(745-747)Tat>Aat	p.Y249N	OSCP1_ENST00000315643.9_Missense_Mutation_p.Y249N|OSCP1_ENST00000235532.5_Missense_Mutation_p.Y239N|OSCP1_ENST00000433045.2_Missense_Mutation_p.Y194N|OSCP1_ENST00000495222.1_5'UTR			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	249					transport (GO:0006810)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						CGGTCTCCATAAAGTTCAAAA	0.378																																					p.Y239N													.	.			0			c.T715A												136.0	124.0	128.0					1																	36888403		2203	4300	6503	SO:0001583	missense	127700	exon6			CTCCATAAAGTTC		CCDS409.1, CCDS410.1, CCDS409.2	1p34.3	2009-07-06	2009-07-06	2009-07-06	ENSG00000116885	ENSG00000116885			29971	protein-coding gene	gene with protein product	"""oxidored nitro domain containing protein"""	608854	"""chromosome 1 open reading frame 102"""	C1orf102		12477932	Standard	NM_145047		Approved	NOR1	uc001caq.3	Q8WVF1	OTTHUMG00000008139	ENST00000356637.5:c.745T>A	1.37:g.36888403A>T	ENSP00000349052:p.Tyr249Asn		Somatic	120	0	0		WXS	Illumina HiSeq	.	106	0.20	21	NM_145047	27	0.22	6	A6NHM5|A6NHS9|A6NIN9|Q4AEJ0|Q8N7G2|Q8TDF1	Missense_Mutation	SNP	ENST00000356637.5	37		.	.	.	.	.	.	.	.	.	.	A	13.49	2.251367	0.39797	.	.	ENSG00000116885	ENST00000235532;ENST00000356637;ENST00000433045;ENST00000445843;ENST00000315643	T;T;T;T;T	0.29917	1.96;1.97;1.55;1.55;1.97	5.61	3.28	0.37604	.	0.318688	0.34906	N	0.003598	T	0.28034	0.0691	L	0.60455	1.87	0.38911	D	0.957534	B;B	0.18310	0.027;0.016	B;B	0.15052	0.012;0.005	T	0.07271	-1.0781	10	0.36615	T	0.2	.	9.3285	0.38008	0.8542:0.0:0.1458:0.0	.	239;249	Q8WVF1-3;Q8WVF1	.;OSCP1_HUMAN	N	239;249;194;209;249	ENSP00000235532:Y239N;ENSP00000349052:Y249N;ENSP00000390820:Y194N;ENSP00000396417:Y209N;ENSP00000314541:Y249N	ENSP00000235532:Y239N	Y	-	1	0	OSCP1	36660990	1.000000	0.71417	0.989000	0.46669	0.983000	0.72400	3.745000	0.55119	0.416000	0.25844	-0.290000	0.09829	TAT			0.378	OSCP1-010	NOVEL	not_organism_supported|basic	protein_coding	protein_coding		OTTHUMT00000389759.1		NM_145047	
KCNA2	3737	mdanderson.org	37	1	111136543	111136543	+	Missense_Mutation	SNP	G	G	T	rs551440506		TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr1:111136543G>T	ENST00000369770.3	-	5	1617	c.1043C>A	c.(1042-1044)gCt>gAt	p.A348D		NM_001204269.1	NP_001191198.1	P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	0					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	TGTAGTTACAGCTGGTGTCTA	0.458													g|||	1	0.000199681	0.0	0.0	5008	,	,		16568	0.0		0.0	False		,,,				2504	0.001				p.A348D	Pancreas(18;568 735 10587 23710 36357)												.	.			0			c.C1043A																																									SO:0001583	missense	3737	exon5			GTTACAGCTGGTG	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000369770.3:c.1043C>A	1.37:g.111136543G>T	ENSP00000358785:p.Ala348Asp		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	44	0.07	3	NM_001204269	0		0	Q86XG6	Missense_Mutation	SNP	ENST00000369770.3	37	CCDS55625.1	.	.	.	.	.	.	.	.	.	.	g	15.66	2.898373	0.52227	.	.	ENSG00000177301	ENST00000369770	T	0.80909	-1.43	5.77	5.77	0.91146	.	.	.	.	.	D	0.85544	0.5721	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.81165	-0.1057	8	0.21014	T	0.42	.	18.1743	0.89757	0.0:0.0:1.0:0.0	.	348	Q86XG6	.	D	348	ENSP00000358785:A348D	ENSP00000358785:A348D	A	-	2	0	KCNA2	110938066	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.388000	0.73195	2.728000	0.93425	0.651000	0.88453	GCT			0.458	KCNA2-001	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000031965.2		NM_004974	
MIR29C	407026	broad.mit.edu;ucsc.edu;mdanderson.org	37	1	207992469	207992469	+	IGR	SNP	C	C	A			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr1:207992469C>A								C1orf132 (16601 upstream) : RP11-328D5.1 (54670 downstream)																							CTCCATCTCCCGGCTCCCGAT	0.527																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			ATCTCCCGGCTCC																													1.37:g.207992469C>A			Somatic	68	0	0		WXS	Illumina HiSeq	Phase_I	89	0.17	15	.	0		0		Missense_Mutation	SNP		37		.	.	.	.	.	.	.	.	.	.	C	13.73	2.324279	0.41197	.	.	ENSG00000203709	ENST00000415882	.	.	.	4.32	1.04	0.20106	.	.	.	.	.	T	0.27832	0.0685	.	.	.	.	.	.	.	.	.	.	.	.	T	0.28681	-1.0036	3	.	.	.	-0.3019	2.7524	0.05284	0.1864:0.5288:0.1812:0.1037	.	.	.	.	W	82	.	.	G	-	1	0	C1orf132	206059092	0.318000	0.24598	1.000000	0.80357	0.998000	0.95712	-0.450000	0.06803	0.519000	0.28406	0.563000	0.77884	GGG		0	0.527										
PLXNA2	5362	broad.mit.edu	37	1	208205034	208205034	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr1:208205034A>G	ENST00000367033.3	-	29	5883	c.5126T>C	c.(5125-5127)cTc>cCc	p.L1709P	PLXNA2_ENST00000483048.1_5'Flank	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1709					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGCCAGGGGGAGAGCGCTGCC	0.562																																					p.L1709P													.	PLXNA2	178		0			c.T5126C												90.0	78.0	82.0					1																	208205034		2203	4300	6503	SO:0001583	missense	5362	exon29			AGGGGGAGAGCGC	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.5126T>C	1.37:g.208205034A>G	ENSP00000356000:p.Leu1709Pro		Somatic	174	0.0057471264	1		WXS	Illumina HiSeq	Phase_I	200	0.02	4	NM_025179	138	0.00	0	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.279834	0.80692	.	.	ENSG00000076356	ENST00000367033	T	0.23552	1.9	4.4	4.4	0.53042	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.141387	0.48767	D	0.000165	T	0.47322	0.1439	M	0.64676	1.99	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.50533	-0.8817	10	0.87932	D	0	.	13.8239	0.63340	1.0:0.0:0.0:0.0	.	1709	O75051	PLXA2_HUMAN	P	1709	ENSP00000356000:L1709P	ENSP00000356000:L1709P	L	-	2	0	PLXNA2	206271657	1.000000	0.71417	0.985000	0.45067	0.972000	0.66771	8.792000	0.91856	1.859000	0.53934	0.533000	0.62120	CTC			0.562	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000088932.6		NM_025179	
LAMB3	3914	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	209799360	209799361	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr1:209799360_209799361delCA	ENST00000356082.4	-	14	1742_1743	c.1608_1609delTG	c.(1606-1611)tgtgatfs	p.CD536fs	LAMB3_ENST00000367030.3_Frame_Shift_Del_p.CD536fs|LAMB3_ENST00000391911.1_Frame_Shift_Del_p.CD536fs|MIR4260_ENST00000583107.1_RNA	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	536	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CCCCGGAAATCACAGTCACAGG	0.634																																					p.537_537del													.	LAMB3	136		0			c.1609_1610del																																									SO:0001589	frameshift_variant	3914	exon14			GGAAATCACAGTC	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1608_1609delTG	1.37:g.209799362_209799363delCA	ENSP00000348384:p.Cys536fs		Somatic	95	0	0		WXS	Illumina HiSeq	.	113	0.33	37	NM_000228	0		0	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Frame_Shift_Del	DEL	ENST00000356082.4	37	CCDS1487.1																																																																																					0.634	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000088525.2		NM_000228	
KIN	22944	broad.mit.edu	37	10	7820886	7820886	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr10:7820886T>C	ENST00000379562.4	-	5	520	c.473A>G	c.(472-474)aAg>aGg	p.K158R	KIN_ENST00000543003.1_Missense_Mutation_p.K52R|KIN_ENST00000535925.1_Missense_Mutation_p.K158R	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein											endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						CTGCTTTTTCTTTTTCTCCAG	0.453																																					p.K158R													.	KIN	39		0			c.A473G												208.0	209.0	209.0					10																	7820886		2203	4300	6503	SO:0001583	missense	22944	exon5			TTTTTCTTTTTCT	AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"""antigenic determinant of recA protein (mouse) homolog"", ""KIN, antigenic determinant of recA protein homolog (mouse)"""			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.473A>G	10.37:g.7820886T>C	ENSP00000368881:p.Lys158Arg		Somatic	152	0.0065789474	1		WXS	Illumina HiSeq	Phase_I	138	0.02	3	NM_012311	32	0.00	0		Missense_Mutation	SNP	ENST00000379562.4	37	CCDS7080.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.157924	0.78114	.	.	ENSG00000151657	ENST00000535925;ENST00000379562;ENST00000543003	.	.	.	5.91	5.91	0.95273	DNA/RNA-binding protein Kin17, conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.74928	0.3781	L	0.56396	1.775	0.80722	D	1	D;P;D	0.59767	0.986;0.956;0.982	P;D;D	0.77557	0.843;0.986;0.99	T	0.70676	-0.4806	9	0.21540	T	0.41	-22.4077	16.3483	0.83171	0.0:0.0:0.0:1.0	.	52;158;158	F5GXB3;B4DX32;O60870	.;.;KIN17_HUMAN	R	158;158;52	.	ENSP00000368881:K158R	K	-	2	0	KIN	7860892	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.991000	0.88244	2.254000	0.74563	0.533000	0.62120	AAG			0.453	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046683.2		NM_012311	
ITGA8	8516	mdanderson.org	37	10	15761727	15761727	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr10:15761727G>T	ENST00000378076.3	-	1	397	c.44C>A	c.(43-45)cCg>cAg	p.P15Q		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	15					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CGCGATCAGCGGCGCCTGGCT	0.736																																					p.P15Q													.	.			0			c.C44A												5.0	6.0	6.0					10																	15761727		2098	4059	6157	SO:0001583	missense	8516	exon1			ATCAGCGGCGCCT	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.44C>A	10.37:g.15761727G>T	ENSP00000367316:p.Pro15Gln		Somatic	11	0	0		WXS	Illumina HiSeq	Phase_I	11	0.18	2	NM_003638	0		0	B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	0.171	-1.071386	0.01918	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	D	0.91792	-2.91	3.98	-1.36	0.09085	.	0.825912	0.10472	N	0.670719	T	0.81380	0.4810	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.002	T	0.65537	-0.6144	10	0.29301	T	0.29	.	6.4421	0.21854	0.0:0.2395:0.5402:0.2203	.	15;15	F5H818;P53708	.;ITA8_HUMAN	Q	15	ENSP00000367316:P15Q	ENSP00000367316:P15Q	P	-	2	0	ITGA8	15801733	0.000000	0.05858	0.006000	0.13384	0.020000	0.10135	-1.900000	0.01599	-0.460000	0.07003	-0.397000	0.06425	CCG			0.736	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046987.1		NM_003638	
C10orf67	256815	bcgsc.ca;mdanderson.org	37	10	23592330	23592330	+	IGR	SNP	G	G	T	rs554333696	byFrequency	TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr10:23592330G>T								C10orf115 (63585 upstream) : C10orf67 (13335 downstream)																							CAAAATATTTGTTTTGACAGT	0.294													G|||	4	0.000798722	0.003	0.0	5008	,	,		14446	0.0		0.0	False		,,,				2504	0.0				.													.	.			0			.																																									SO:0001628	intergenic_variant	256815	.			ATATTTGTTTTGA																													10.37:g.23592330G>T			Somatic	142	0	0		WXS	Illumina HiSeq	Phase_1	181	0.08	14	.	0		0		Missense_Mutation	SNP		37		.	.	.	.	.	.	.	.	.	.	G	4.730	0.135768	0.09032	.	.	ENSG00000179133	ENST00000376500	.	.	.	4.64	2.26	0.28386	.	1.395630	0.04154	N	0.321806	T	0.37919	0.1021	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34403	-0.9830	6	0.39692	T	0.17	-0.0038	7.4817	0.27408	0.8193:0.0:0.1807:0.0	.	.	.	.	K	153	.	ENSP00000365683:T153K	T	-	2	0	C10orf67	23632336	0.004000	0.15560	0.000000	0.03702	0.003000	0.03518	2.070000	0.41491	0.350000	0.24002	-1.004000	0.02495	ACA		0	0.294										
MMRN2	79812	mdanderson.org	37	10	88702582	88702582	+	Silent	SNP	G	G	T			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr10:88702582G>T	ENST00000372027.5	-	6	2280	c.1959C>A	c.(1957-1959)ctC>ctA	p.L653L	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	653					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CGTCCCAGCCGAGCGCCTGCT	0.751																																					p.L653L													.	.			0			c.C1959A												6.0	7.0	6.0					10																	88702582		2066	4034	6100	SO:0001819	synonymous_variant	79812	exon6			CCAGCCGAGCGCC	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.1959C>A	10.37:g.88702582G>T			Somatic	17	0	0		WXS	Illumina HiSeq	Phase_I	17	0.12	2	NM_024756	1	0.00	0	Q504V7|Q6P2N2	Silent	SNP	ENST00000372027.5	37	CCDS7379.1																																																																																					0.751	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049179.2		NM_024756	
PDZD7	79955	mdanderson.org	37	10	102772009	102772009	+	IGR	SNP	G	G	A			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr10:102772009G>A								LZTS2 (4416 upstream) : PDZD7 (5079 downstream)																							CCTCCCTCGTGCACATACTGC	0.607											OREG0020452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.H586Y													.	.			0			c.C1756T																																									SO:0001628	intergenic_variant	79955	exon12			CCTCGTGCACATA																													10.37:g.102772009G>A			Somatic	24	0	0	1369	WXS	Illumina HiSeq	Phase_I	38	0.08	3	NM_001195263	0		0		Missense_Mutation	SNP		37		.	.	.	.	.	.	.	.	.	.	G	15.38	2.815702	0.50527	.	.	ENSG00000186862	ENST00000393462	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	T	0.68247	0.2980	L	0.40543	1.245	0.80722	D	1	.	.	.	.	.	.	T	0.68985	-0.5265	6	0.52906	T	0.07	.	18.5993	0.91242	0.0:0.0:1.0:0.0	.	.	.	.	Y	586	.	ENSP00000377106:H586Y	H	-	1	0	PDZD7	102761999	0.998000	0.40836	0.997000	0.53966	0.544000	0.35116	2.144000	0.42197	2.482000	0.83794	0.561000	0.74099	CAC		0	0.607										
PDCD4	27250	broad.mit.edu	37	10	112647501	112647501	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr10:112647501A>G	ENST00000280154.7	+	6	908	c.634A>G	c.(634-636)Aag>Gag	p.K212E	PDCD4_ENST00000481353.1_3'UTR|PDCD4_ENST00000393104.2_Missense_Mutation_p.K201E	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	212	MI 1. {ECO:0000255|PROSITE- ProRule:PRU00698}.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		ATTGGAGGGGAAGGCTAGTCA	0.353																																					p.K212E	Ovarian(115;1498 1603 9363 40056 40885)												.	PDCD4	39		0			c.A634G												177.0	159.0	165.0					10																	112647501		2203	4300	6503	SO:0001583	missense	27250	exon6			GAGGGGAAGGCTA	U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"""nuclear antigen H731"""	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.634A>G	10.37:g.112647501A>G	ENSP00000280154:p.Lys212Glu		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	173	0.02	3	NM_014456	12	0.08	1	B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Missense_Mutation	SNP	ENST00000280154.7	37	CCDS7567.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.864440	0.91511	.	.	ENSG00000150593	ENST00000280154;ENST00000393104;ENST00000444997	T;T;T	0.48836	0.8;0.8;0.8	5.51	5.51	0.81932	Initiation factor eIF-4 gamma, MA3 (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65913	0.2737	M	0.85373	2.75	0.80722	D	1	P;P;P	0.52692	0.955;0.955;0.955	P;P;P	0.53266	0.722;0.722;0.722	T	0.72704	-0.4213	10	0.66056	D	0.02	-18.4309	15.9219	0.79583	1.0:0.0:0.0:0.0	.	198;212;201	B4DKX4;Q53EL6;B5ME91	.;PDCD4_HUMAN;.	E	212;201;198	ENSP00000280154:K212E;ENSP00000376816:K201E;ENSP00000394668:K198E	ENSP00000280154:K212E	K	+	1	0	PDCD4	112637491	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.910000	0.92685	2.218000	0.71995	0.528000	0.53228	AAG			0.353	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050361.1	rescued with RNA-seq	NM_014456	
MKI67	4288	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	10	129901783	129901783	+	Missense_Mutation	SNP	G	G	A	rs373588815		TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr10:129901783G>A	ENST00000368654.3	-	13	8696	c.8321C>T	c.(8320-8322)cCg>cTg	p.P2774L	MKI67_ENST00000368653.3_Missense_Mutation_p.P2414L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2774	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGCTGGAGCCGGTGTCTGTTT	0.512																																					p.P2774L													.	.			0			c.C8321T							G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	124.0	117.0	120.0		7241,8321	-4.1	0.0	10		120	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense	MKI67	NM_001145966.1,NM_002417.4	98,98	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign	2414/2897,2774/3257	129901783	3,13003	2203	4300	6503	SO:0001583	missense	4288	exon13			GGAGCCGGTGTCT	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8321C>T	10.37:g.129901783G>A	ENSP00000357643:p.Pro2774Leu		Somatic	156	0	0		WXS	Illumina HiSeq	.	133	0.07	9	NM_002417	6	0.00	0	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	0.043	-1.276014	0.01410	0.0	3.49E-4	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.00832	5.64;5.64	3.93	-4.07	0.03975	.	.	.	.	.	T	0.00271	0.0008	N	0.00095	-2.16	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.04013	0.001;0.0;0.001	T	0.45483	-0.9258	9	0.26408	T	0.33	.	4.3342	0.11078	0.3516:0.0:0.4331:0.2153	.	2773;2414;2774	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	L	2774;2414;2773	ENSP00000357643:P2774L;ENSP00000357642:P2414L	ENSP00000357642:P2414L	P	-	2	0	MKI67	129791773	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.739000	0.04866	-0.478000	0.06823	-0.937000	0.02696	CCG			0.512	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000050999.1		NM_002417	
NLRP6	171389	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	281495	281495	+	Silent	SNP	C	C	T			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr11:281495C>T	ENST00000312165.5	+	4	1761	c.1761C>T	c.(1759-1761)ccC>ccT	p.P587P	NLRP6_ENST00000534750.1_Silent_p.P587P	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	587					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGGCTGCCCCGGAGTGGCAC	0.662																																					p.P587P													.	.			0			c.C1761T												30.0	36.0	34.0					11																	281495		2203	4300	6503	SO:0001819	synonymous_variant	171389	exon4			CTGCCCCGGAGTG	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1761C>T	11.37:g.281495C>T			Somatic	51	0	0		WXS	Illumina HiSeq	.	50	0.24	12	NM_138329	0		0	A8K9F3|E9PJZ8	Silent	SNP	ENST00000312165.5	37	CCDS7693.1																																																																																					0.662	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239283.1		NM_138329	
MUC6	4588	bcgsc.ca	37	11	1016801	1016801	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr11:1016801G>C	ENST00000421673.2	-	31	6050	c.6000C>G	c.(5998-6000)caC>caG	p.H2000Q		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2000	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGTCTGAGGGTGTGATGGGG	0.542																																					p.H2000Q													.	MUC6	408		0			c.C6000G												1371.0	1357.0	1362.0					11																	1016801		2203	4297	6500	SO:0001583	missense	4588	exon31			CTGAGGGTGTGAT	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6000C>G	11.37:g.1016801G>C	ENSP00000406861:p.His2000Gln		Somatic	405	0.0197530864	8		WXS	Illumina HiSeq	Phase_1	390	0.04	16	NM_005961	0		0	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	6.842	0.524518	0.13066	.	.	ENSG00000184956	ENST00000421673	T	0.17528	2.27	2.76	-5.51	0.02568	.	.	.	.	.	T	0.10337	0.0253	L	0.50333	1.59	0.09310	N	1	B	0.27625	0.183	B	0.21708	0.036	T	0.29610	-1.0006	9	0.27082	T	0.32	.	1.062	0.01603	0.2629:0.2888:0.3017:0.1467	.	2000	Q6W4X9	MUC6_HUMAN	Q	2000	ENSP00000406861:H2000Q	ENSP00000406861:H2000Q	H	-	3	2	MUC6	1006801	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.904000	0.04080	-1.588000	0.01627	0.306000	0.20318	CAC			0.542	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382120.2		XM_290540	
MUC2	4583	mdanderson.org	37	11	1093434	1093434	+	Silent	SNP	C	C	T	rs12786901		TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr11:1093434C>T	ENST00000441003.2	+	30	5280	c.5253C>T	c.(5251-5253)acC>acT	p.T1751T	MUC2_ENST00000359061.5_Silent_p.T1718T|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Silent_p.T39T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ccaccaccaccacggtgaccc	0.642																																					p.T1751T													.	.			0			c.C5253T							T		10,4082		0,10,2036	196.0	223.0	214.0		5250	-3.5	0.0	11	dbSNP_121	214	15,8043		0,15,4014	no	coding-synonymous	MUC2	NM_002457.2		0,25,6050	TT,TC,CC		0.1862,0.2444,0.2058		1750/2813	1093434	25,12125	2046	4029	6075	SO:0001819	synonymous_variant	4583	exon30			CACCACCACGGTG	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5253C>T	11.37:g.1093434C>T			Somatic	33	0.0303030303	1		WXS	Illumina HiSeq	Phase_I	26	0.19	5	NM_002457	0		0	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																						0.642	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457	
FOLH1	2346	bcgsc.ca	37	11	49204790	49204790	+	Silent	SNP	A	A	G	rs76509850	byFrequency	TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr11:49204790A>G	ENST00000256999.2	-	7	1091	c.831T>C	c.(829-831)taT>taC	p.Y277Y	FOLH1_ENST00000340334.7_Silent_p.Y262Y|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Silent_p.Y262Y|FOLH1_ENST00000356696.3_Silent_p.Y277Y	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	277	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	GCCTATAAGCATATTCTGAAA	0.343																																					p.Y277Y													.	FOLH1	141		0			c.T831C												61.0	61.0	61.0					11																	49204790		2201	4298	6499	SO:0001819	synonymous_variant	2346	exon7			ATAAGCATATTCT	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.831T>C	11.37:g.49204790A>G			Somatic	110	0	0		WXS	Illumina HiSeq	Phase_1	137	0.09	12	NM_004476	0		0	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	CCDS7946.1																																																																																					0.343	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390896.1		NM_004476	
SLC22A20	440044	broad.mit.edu	37	11	64989730	64989730	+	RNA	DEL	C	C	-			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr11:64989730delC	ENST00000525437.1	+	0	841							A6NK97	S22AK_HUMAN	solute carrier family 22, member 20						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						ctggccAAGTCCTCTGTAGTC	0.542																																					.													.	SLC22A20	36		0			.																																											0	.			CCAAGTCCTCTGT	DQ053017		11q13.1	2014-02-20			ENSG00000197847	ENSG00000197847		"""Solute carriers"""	29867	other	unknown		611696				15369770, 16478971	Standard	NM_001004326		Approved	Oat6, FLJ16331	uc021qlh.1	A6NK97	OTTHUMG00000165615		11.37:g.64989730delC			Somatic	6	0	0		WXS	Illumina HiSeq	Phase_I	6	0.33	2	.	0		0	B9EJB2|Q6ZN88	RNA	DEL	ENST00000525437.1	37																																																																																						0.542	SLC22A20-003	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000385336.1		NM_001004326	
LTBP3	4054	mdanderson.org	37	11	65306612	65306612	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr11:65306612C>T	ENST00000301873.5	-	28	4119	c.3851G>A	c.(3850-3852)tGc>tAc	p.C1284Y	LTBP3_ENST00000530785.1_Missense_Mutation_p.C287Y|LTBP3_ENST00000532932.1_Missense_Mutation_p.C714Y|LTBP3_ENST00000536982.1_Missense_Mutation_p.C863Y|LTBP3_ENST00000322147.4_Missense_Mutation_p.C1237Y|LTBP3_ENST00000529189.1_Missense_Mutation_p.C240Y	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	1284	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GCCGGCTTTGCAGACGCAGCG	0.706																																					p.C1284Y													.	.			0			c.G3851A												3.0	3.0	3.0					11																	65306612		1830	3531	5361	SO:0001583	missense	4054	exon28			GCTTTGCAGACGC	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.3851G>A	11.37:g.65306612C>T	ENSP00000301873:p.Cys1284Tyr		Somatic	19	0	0		WXS	Illumina HiSeq	Phase_I	11	0.27	3	NM_001130144	37	0.00	0	O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	37	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673567	0.88445	.	.	ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000530785;ENST00000529189;ENST00000532932;ENST00000536982	D;D;D;D;D;D	0.99319	-5.74;-5.74;-5.74;-5.74;-5.74;-5.74	4.86	3.94	0.45596	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99658	0.9873	H	0.99074	4.42	0.58432	D	0.999995	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0;0.998	D	0.97670	1.0166	10	0.87932	D	0	.	11.1008	0.48172	0.0:0.9077:0.0:0.0923	.	863;1120;1284;1237;714;863	F5GWC4;B9EG76;Q9NS15;Q9NS15-2;E9PJR2;B4DQL8	.;.;LTBP3_HUMAN;.;.;.	Y	1237;1284;287;240;714;863	ENSP00000326647:C1237Y;ENSP00000301873:C1284Y;ENSP00000434315:C287Y;ENSP00000434406:C240Y;ENSP00000435530:C714Y;ENSP00000441912:C863Y	ENSP00000301873:C1284Y	C	-	2	0	LTBP3	65063188	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.648000	0.67930	1.026000	0.39733	0.561000	0.74099	TGC			0.706	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390538.1		NM_021070	
TECTA	7007	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	121028809	121028809	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr11:121028809A>G	ENST00000392793.1	+	14	4836	c.4565A>G	c.(4564-4566)gAc>gGc	p.D1522G	TECTA_ENST00000264037.2_Missense_Mutation_p.D1522G			O75443	TECTA_HUMAN	tectorin alpha	1522	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AAACTGCCCGACATCTCCTTC	0.592																																					p.D1522G													.	.			0			c.A4565G												93.0	73.0	80.0					11																	121028809		2203	4299	6502	SO:0001583	missense	7007	exon13			TGCCCGACATCTC	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4565A>G	11.37:g.121028809A>G	ENSP00000376543:p.Asp1522Gly		Somatic	115	0	0		WXS	Illumina HiSeq	.	88	0.75	66	NM_005422	0		0		Missense_Mutation	SNP	ENST00000392793.1	37	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.463304	0.63513	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.61158	0.13;0.13	5.67	4.56	0.56223	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.59252	0.2180	N	0.25485	0.75	0.47778	D	0.999515	D	0.67145	0.996	D	0.65773	0.938	T	0.56232	-0.8013	10	0.31617	T	0.26	.	11.0748	0.48025	0.9278:0.0:0.0722:0.0	.	1522	O75443	TECTA_HUMAN	G	1522	ENSP00000376543:D1522G;ENSP00000264037:D1522G	ENSP00000264037:D1522G	D	+	2	0	TECTA	120534019	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.112000	0.77086	2.169000	0.68431	0.460000	0.39030	GAC			0.592	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313850.1		NM_005422	
ERC1	23085	broad.mit.edu	37	12	1292505	1292505	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr12:1292505A>G	ENST00000397203.2	+	11	2481	c.2075A>G	c.(2074-2076)aAg>aGg	p.K692R	ERC1_ENST00000546231.2_Missense_Mutation_p.K692R|ERC1_ENST00000589028.1_Missense_Mutation_p.K692R|ERC1_ENST00000543086.3_Missense_Mutation_p.K664R|ERC1_ENST00000355446.5_Missense_Mutation_p.K692R|ERC1_ENST00000360905.4_Missense_Mutation_p.K692R|ERC1_ENST00000536573.2_3'UTR			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	692					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GGACTGAAAAAGGACTCACGG	0.363																																					p.K692R													.	ERC1	95		0			c.A2075G												89.0	88.0	89.0					12																	1292505		2203	4300	6503	SO:0001583	missense	23085	exon11			TGAAAAAGGACTC	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.2075A>G	12.37:g.1292505A>G	ENSP00000380386:p.Lys692Arg		Somatic	314	0	0		WXS	Illumina HiSeq	Phase_I	731	0.01	7	NM_178040	2	0.00	0	A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.455744	0.26161	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.37	5.37	0.77165	.	0.093551	0.64402	D	0.000001	T	0.35595	0.0937	L	0.42686	1.345	0.80722	D	1	B;B;B;B;B	0.16166	0.002;0.016;0.003;0.003;0.001	B;B;B;B;B	0.19666	0.011;0.026;0.008;0.008;0.008	T	0.16041	-1.0416	10	0.11485	T	0.65	-32.4174	15.6887	0.77434	1.0:0.0:0.0:0.0	.	440;332;664;664;692	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	R	664;692;664;664;392;664;664;392;692;692;692;664;440;332	ENSP00000340054:K664R;ENSP00000380386:K692R;ENSP00000438546:K664R;ENSP00000442976:K392R;ENSP00000442739:K692R;ENSP00000347621:K692R;ENSP00000354158:K692R;ENSP00000410064:K664R	ENSP00000299183:K392R	K	+	2	0	ERC1	1162766	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.281000	0.72632	2.170000	0.68504	0.460000	0.39030	AAG			0.363	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398380.2		NM_015064	
DDX11	1663	broad.mit.edu	37	12	31238044	31238044	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr12:31238044delA	ENST00000407793.2	+	5	873	c.622delA	c.(622-624)aaafs	p.K209fs	DDX11_ENST00000545668.1_Frame_Shift_Del_p.K209fs|DDX11_ENST00000251758.5_Frame_Shift_Del_p.K209fs|DDX11_ENST00000542838.1_Frame_Shift_Del_p.K209fs|DDX11_ENST00000228264.6_Frame_Shift_Del_p.K183fs|DDX11_ENST00000350437.4_Frame_Shift_Del_p.K209fs	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	209	Glu-rich.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGATGAGGAGAAAAAGGTGGC	0.617										Multiple Myeloma(12;0.14)																											p.K208fs													.	DDX11	188		0			c.622delA												31.0	31.0	31.0					12																	31238044		2194	4282	6476	SO:0001589	frameshift_variant	1663	exon5			GAGGAGAAAAAGG	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.622delA	12.37:g.31238044delA	ENSP00000384703:p.Lys209fs		Somatic	319	0	0		WXS	Illumina HiSeq	Phase_I	634	0.01	8	NM_030653	16	0.00	0	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Frame_Shift_Del	DEL	ENST00000407793.2	37	CCDS44856.1																																																																																					0.617	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000399728.1		NM_030653	
LRP1	4035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	57600263	57600263	+	Silent	SNP	G	G	A			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr12:57600263G>A	ENST00000243077.3	+	76	12064	c.11598G>A	c.(11596-11598)gaG>gaA	p.E3866E		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3866					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAGGCTCTGAGTACCAGGTCC	0.602																																					p.E3866E													.	.			0			c.G11598A												78.0	69.0	72.0					12																	57600263		2203	4300	6503	SO:0001819	synonymous_variant	4035	exon76			CTCTGAGTACCAG	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11598G>A	12.37:g.57600263G>A			Somatic	62	0	0		WXS	Illumina HiSeq	.	49	0.55	27	NM_002332	19	0.47	9	Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	CCDS8932.1																																																																																					0.602	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412772.2		NM_002332	
HECTD4	283450	mdanderson.org	37	12	112601498	112601498	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr12:112601498G>A	ENST00000430131.2	-	73	12624	c.11479C>T	c.(11479-11481)Cgg>Tgg	p.R3827W	HECTD4_ENST00000549141.1_5'Flank|HECTD4_ENST00000550722.1_Missense_Mutation_p.R4103W|HECTD4_ENST00000377560.5_Missense_Mutation_p.R4077W			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3827	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TCCCGCAGCCGCAGGCTCCGG	0.677																																					p.R4115W													.	.			0			c.C12343T												5.0	9.0	7.0					12																	112601498		1491	2934	4425	SO:0001583	missense	283450	exon74			GCAGCCGCAGGCT	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11479C>T	12.37:g.112601498G>A	ENSP00000404379:p.Arg3827Trp		Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	47	0.06	3	NM_001109662	1	0.00	0	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	G	24.7	4.560929	0.86335	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000547085	T;T;T	0.51071	0.72;0.72;0.72	5.73	4.79	0.61399	HECT (4);	.	.	.	.	T	0.73690	0.3619	M	0.89968	3.075	0.58432	D	0.999995	D	0.89917	1.0	D	0.81914	0.995	T	0.79536	-0.1763	9	0.87932	D	0	.	15.4476	0.75243	0.0:0.0:0.7852:0.2148	.	3827	Q9Y4D8	K0614_HUMAN	W	4077;3827;4103;292	ENSP00000366783:R4077W;ENSP00000404379:R3827W;ENSP00000449784:R4103W	ENSP00000366783:R4077W	R	-	1	2	C12orf51	111085881	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.543000	0.53633	2.713000	0.92767	0.655000	0.94253	CGG			0.677	HECTD4-202	KNOWN	basic	protein_coding	protein_coding				NM_173813	
TMEM132C	92293	broad.mit.edu	37	12	129028614	129028614	+	Missense_Mutation	SNP	G	G	T	rs541595581		TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr12:129028614G>T	ENST00000435159.2	+	3	1087	c.1087G>T	c.(1087-1089)Gcc>Tcc	p.A363S	TMEM132C_ENST00000315208.8_5'UTR	NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	363						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						GGCCACCGTGGCCTGCCAGCG	0.701																																					p.A363S													.	TMEM132C	142		0			c.G1087T												16.0	28.0	24.0					12																	129028614		692	1589	2281	SO:0001583	missense	92293	exon3			ACCGTGGCCTGCC	AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.1087G>T	12.37:g.129028614G>T	ENSP00000410852:p.Ala363Ser		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	141	0.04	5	NM_001136103	0		0	Q69YX8	Missense_Mutation	SNP	ENST00000435159.2	37		.	.	.	.	.	.	.	.	.	.	G	6.603	0.479674	0.12581	.	.	ENSG00000181234	ENST00000435159	T	0.13420	2.59	4.71	-0.786	0.10946	.	.	.	.	.	T	0.05640	0.0148	N	0.14661	0.345	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.41858	-0.9485	9	0.22109	T	0.4	.	0.4231	0.00459	0.281:0.1459:0.3061:0.267	.	363	Q8N3T6	T132C_HUMAN	S	363	ENSP00000410852:A363S	ENSP00000410852:A363S	A	+	1	0	TMEM132C	127594567	0.009000	0.17119	0.601000	0.28877	0.674000	0.39518	0.104000	0.15313	-0.115000	0.11915	-0.140000	0.14226	GCC			0.701	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				XM_044062	
DCT	1638	ucsc.edu	37	13	95131234	95131234	+	Silent	SNP	G	G	A			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr13:95131234G>A	ENST00000377028.5	-	1	689	c.276C>T	c.(274-276)caC>caT	p.H92H	DCT_ENST00000446125.1_Silent_p.H92H	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	92					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TGCAGGTCCGGTGGAAGAATT	0.577																																					p.H92H													.	DCT	186		0			c.C276T												89.0	77.0	81.0					13																	95131234		2203	4300	6503	SO:0001819	synonymous_variant	1638	exon1			GGTCCGGTGGAAG	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.276C>T	13.37:g.95131234G>A			Somatic	43	0	0		WXS	Illumina HiSeq		40	0.10	4	NM_001129889	0		0	Q09GT4	Silent	SNP	ENST00000377028.5	37	CCDS9470.1																																																																																					0.577	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045461.3			
KLF13	51621	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	15	31619961	31619961	+	Silent	SNP	G	G	C			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr15:31619961G>C	ENST00000307145.3	+	1	904	c.546G>C	c.(544-546)tcG>tcC	p.S182S		NM_015995.2	NP_057079.2	Q9Y2Y9	KLF13_HUMAN	Kruppel-like factor 13	182					negative regulation of cell proliferation (GO:0008285)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)	2		all_lung(180;3.71e-11)		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)		GGAAATCTTCGCACCTCAAGG	0.697																																					p.S182S													.	.			0			c.G546C												16.0	19.0	18.0					15																	31619961		2086	4221	6307	SO:0001819	synonymous_variant	51621	exon1			ATCTTCGCACCTC	AF132599	CCDS10025.1	15q13.3	2013-01-08			ENSG00000169926	ENSG00000169926		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	13672	protein-coding gene	gene with protein product		605328				10415854, 10023774	Standard	NM_015995		Approved	RFLAT-1, BTEB3, NSLP1, FKLF-2	uc001zfo.3	Q9Y2Y9	OTTHUMG00000172224	ENST00000307145.3:c.546G>C	15.37:g.31619961G>C			Somatic	80	0	0		WXS	Illumina HiSeq	.	66	0.26	17	NM_015995	2	0.00	0	Q9Y356	Silent	SNP	ENST00000307145.3	37	CCDS10025.1																																																																																					0.697	KLF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251381.1		NM_015995	
CORO2B	10391	mdanderson.org	37	15	69011560	69011560	+	Silent	SNP	A	A	G			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr15:69011560A>G	ENST00000566799.1	+	10	1187	c.1158A>G	c.(1156-1158)ggA>ggG	p.G386G	CORO2B_ENST00000540068.1_Silent_p.G381G|CORO2B_ENST00000261861.5_Silent_p.G381G|CORO2B_ENST00000543950.1_Silent_p.G381G			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	386					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AATGGCTGGGAGGCATCAACC	0.602																																					p.G386G													.	.			0			c.A1158G												73.0	72.0	73.0					15																	69011560		2200	4298	6498	SO:0001819	synonymous_variant	10391	exon10			GCTGGGAGGCATC	AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.1158A>G	15.37:g.69011560A>G			Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	56	0.07	4	NM_006091	0		0	A8K0W3|O94767|Q8TAN1	Silent	SNP	ENST00000566799.1	37	CCDS10229.2																																																																																					0.602	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding				NM_006091	
IL16	3603	mdanderson.org	37	15	81598276	81598276	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr15:81598276G>T	ENST00000302987.4	+	16	3448	c.3448G>T	c.(3448-3450)Gcc>Tcc	p.A1150S	IL16_ENST00000394660.2_Missense_Mutation_p.A1150S|RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394652.2_Missense_Mutation_p.A449S			Q14005	IL16_HUMAN	interleukin 16	1150	Interaction with PPP1R12A, PPP1R12B and PPP1R12C.|PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AAATGGGCTGGCCTCCCAGGA	0.522																																					p.A1150S													.	.			0			c.G3448T												130.0	143.0	139.0					15																	81598276		2203	4300	6503	SO:0001583	missense	3603	exon17			GGGCTGGCCTCCC	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.3448G>T	15.37:g.81598276G>T	ENSP00000302935:p.Ala1150Ser		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	46	0.07	3	NM_001172128	22	0.00	0	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065035	0.55432	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653;ENST00000394652;ENST00000394656	T;T;T	0.58506	0.33;0.33;0.33	4.64	4.64	0.57946	PDZ/DHR/GLGF (4);	0.000000	0.46442	D	0.000282	T	0.79661	0.4484	M	0.93016	3.37	0.80722	D	1	P;D;D;D;D;D	0.76494	0.922;0.985;0.999;0.993;0.993;0.995	D;D;D;D;D;D	0.87578	0.975;0.988;0.961;0.998;0.997;0.996	D	0.83611	0.0134	10	0.72032	D	0.01	.	11.2172	0.48833	0.0839:0.0:0.9161:0.0	.	982;643;687;540;1150;1150	F8W7Z5;Q6ZTT5;B7Z8M3;B3KY62;Q14005;Q14005-2	.;.;.;.;IL16_HUMAN;.	S	1150;982;1150;687;540;449;449	ENSP00000378155:A1150S;ENSP00000302935:A1150S;ENSP00000378147:A449S	ENSP00000302935:A1150S	A	+	1	0	IL16	79385331	1.000000	0.71417	0.899000	0.35326	0.060000	0.15804	7.078000	0.76821	2.386000	0.81285	0.655000	0.94253	GCC			0.522	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000303952.1		NM_172217	
SEMA4B	10509	hgsc.bcm.edu	37	15	90764683	90764683	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr15:90764683A>G	ENST00000411539.2	+	6	940	c.680A>G	c.(679-681)aAg>aGg	p.K227R	SEMA4B_ENST00000379122.3_Missense_Mutation_p.K222R|SEMA4B_ENST00000332496.6_Missense_Mutation_p.K227R	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	222	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CGCCCCACCAAGACCGAGAGC	0.592											OREG0023469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K227R													.	.			0			c.A680G												26.0	29.0	28.0					15																	90764683		1989	4162	6151	SO:0001583	missense	10509	exon7			CCACCAAGACCGA	AB051532	CCDS45347.1	15q25	2008-07-18						"""Semaphorins"""	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.680A>G	15.37:g.90764683A>G	ENSP00000394720:p.Lys227Arg		Somatic	140	0	0	1277	WXS	Illumina HiSeq	.	95	0.04	4	NM_020210	6	0.00	0	Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Missense_Mutation	SNP	ENST00000411539.2	37	CCDS45347.1	.	.	.	.	.	.	.	.	.	.	A	18.81	3.702901	0.68501	.	.	ENSG00000185033	ENST00000332496;ENST00000379122;ENST00000411539	T;T;T	0.08896	3.04;3.04;3.04	5.46	5.46	0.80206	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.247922	0.40728	N	0.001024	T	0.08891	0.0220	N	0.25201	0.72	0.80722	D	1	P;P	0.50710	0.938;0.938	P;P	0.50825	0.651;0.557	T	0.08106	-1.0738	10	0.02654	T	1	.	14.67	0.68937	1.0:0.0:0.0:0.0	.	227;222	Q2NL81;Q9NPR2	.;SEM4B_HUMAN	R	227;222;227	ENSP00000332204:K227R;ENSP00000368417:K222R;ENSP00000394720:K227R	ENSP00000332204:K227R	K	+	2	0	SEMA4B	88565687	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.210000	0.95106	2.200000	0.70718	0.460000	0.39030	AAG			0.592	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000416810.1		NM_198925	
DNM1P47	100216544	broad.mit.edu	37	15	102312095	102312095	+	RNA	SNP	G	G	T	rs199873857	byFrequency	TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr15:102312095G>T	ENST00000561463.1	+	0	13463				RN7SL209P_ENST00000488309.2_RNA					DNM1 pseudogene 47																		GTGGGGATCCGAGTGCAGTGA	0.607													.|||	734	0.146565	0.2685	0.0879	5008	,	,		13168	0.0585		0.0746	False		,,,				2504	0.1881				.													.	.			0			.																																											0	.			GGATCCGAGTGCA	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102312095G>T			Somatic	14	0	0		WXS	Illumina HiSeq	Phase_I	12	0.25	3	.	0		0		RNA	SNP	ENST00000561463.1	37																																																																																						0.607	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000417589.1		NG_009149	
PAQR4	124222	mdanderson.org	37	16	3021898	3021898	+	Silent	SNP	C	C	T			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr16:3021898C>T	ENST00000318782.8	+	3	1201	c.771C>T	c.(769-771)ggC>ggT	p.G257G	PKMYT1_ENST00000431515.2_Intron|PKMYT1_ENST00000571102.1_5'Flank|PAQR4_ENST00000293978.8_Silent_p.G218G|PAQR4_ENST00000572687.1_Silent_p.G183G|PAQR4_ENST00000574988.1_Silent_p.G190G|PAQR4_ENST00000576565.1_Silent_p.G190G	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	257						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						TGCACGCCGGCGTCGTGCCCG	0.672																																					p.G257G													PAQR4,bladder,carcinoma,0,1	PAQR4	0	1	0			c.C771T												28.0	30.0	29.0					16																	3021898		2198	4297	6495	SO:0001819	synonymous_variant	124222	exon3			CGCCGGCGTCGTG		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.771C>T	16.37:g.3021898C>T			Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	35	0.09	3	NM_152341	21	0.00	0	A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Silent	SNP	ENST00000318782.8	37	CCDS10485.1																																																																																					0.672	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250966.1		NM_152341	
GLG1	2734	ucsc.edu	37	16	74566050	74566050	+	Splice_Site	SNP	G	G	A	rs201232267		TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr16:74566050G>A	ENST00000422840.2	-	2	439	c.440C>T	c.(439-441)cCt>cTt	p.P147L	GLG1_ENST00000205061.5_Splice_Site_p.P147L|GLG1_ENST00000447066.2_Intron	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	147					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TTCATTTTCAGGCTAGAAGAG	0.308																																					p.P147L													.	GLG1	106		0			c.C440T																																									SO:0001630	splice_region_variant	2734	exon2			TTTTCAGGCTAGA		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.439-1C>T	16.37:g.74566050G>A			Somatic	214	0.0327102804	7		WXS	Illumina HiSeq		321	0.16	50	NM_001145667	0		0	B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739791	0.49045	.	.	ENSG00000090863	ENST00000205061;ENST00000422840	.	.	.	4.8	4.8	0.61643	.	0.075280	0.56097	D	0.000031	T	0.50803	0.1637	N	0.08118	0	0.80722	D	1	B;D	0.76494	0.038;0.999	B;D	0.78314	0.016;0.991	T	0.53308	-0.8457	9	0.33940	T	0.23	-4.2986	13.2184	0.59873	0.0:0.0:1.0:0.0	.	147;147	Q92896;Q92896-2	GSLG1_HUMAN;.	L	147	.	ENSP00000205061:P147L	P	-	2	0	GLG1	73123551	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	4.495000	0.60353	2.507000	0.84556	0.455000	0.32223	CCT			0.308	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000435750.1		NM_012201	Missense_Mutation
MC1R	4157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	89985992	89985992	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr16:89985992G>A	ENST00000555147.1	+	1	1706	c.326G>A	c.(325-327)cGg>cAg	p.R109Q	TUBB3_ENST00000556922.1_Missense_Mutation_p.R109Q|RP11-566K11.7_ENST00000570217.1_RNA|TUBB3_ENST00000554444.1_5'Flank|RP11-566K11.4_ENST00000554623.1_RNA|MC1R_ENST00000555427.1_Missense_Mutation_p.R109Q	NM_002386.3	NP_002377.4	Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	109					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CTGGTGGCCCGGGCTGCGGTG	0.657									Melanoma, Familial Clustering of																												p.R109Q													.	.			0			c.G326A												44.0	53.0	50.0					16																	89985992		2187	4295	6482	SO:0001583	missense	4157	exon1	Familial Cancer Database		TGGCCCGGGCTGC		CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"""GPCR / Class A : Melanocortin receptors"""	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726		ENST00000555147.1:c.326G>A	16.37:g.89985992G>A	ENSP00000451605:p.Arg109Gln		Somatic	58	0	0		WXS	Illumina HiSeq	.	51	0.20	10	NM_002386	5	0.40	2	Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	Missense_Mutation	SNP	ENST00000555147.1	37	CCDS56011.1	.	.	.	.	.	.	.	.	.	.	G	5.591	0.293763	0.10567	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258839	ENST00000555427;ENST00000556922;ENST00000555147	T;T;T	0.72394	-0.65;-0.65;-0.65	4.84	-7.71	0.01254	GPCR, rhodopsin-like superfamily (1);	0.843546	0.09669	N	0.771448	T	0.42966	0.1226	N	0.12637	0.245	0.09310	N	1	B	0.18166	0.026	B	0.12156	0.007	T	0.30563	-0.9974	9	.	.	.	.	8.9505	0.35785	0.627:0.1051:0.2678:0.0	.	109	Q01726	MSHR_HUMAN	Q	109	ENSP00000451760:R109Q;ENSP00000451560:R109Q;ENSP00000451605:R109Q	.	R	+	2	0	MC1R;RP11-566K11.2	88513493	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.988000	0.01482	-1.363000	0.02164	-0.391000	0.06502	CGG			0.657	MC1R-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412014.1		NM_002386	
DBNDD1	79007	mdanderson.org	37	16	90075813	90075813	+	Silent	SNP	C	C	T			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr16:90075813C>T	ENST00000002501.6	-	2	188	c.57G>A	c.(55-57)ccG>ccA	p.P19P	DBNDD1_ENST00000568838.1_Silent_p.P139P|DBNDD1_ENST00000392973.3_Silent_p.P25P|DBNDD1_ENST00000304733.3_Silent_p.P39P	NM_001042610.1	NP_001036075.1	Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 1	19						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|lung(1)	3		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;0.0275)		GCGCAGCCTGCGGCACCTCAG	0.667																																					p.P39P													DBNDD1,rectum,carcinoma,-2,1	DBNDD1	-2	1	0			c.G117A												79.0	93.0	88.0					16																	90075813		2069	4205	6274	SO:0001819	synonymous_variant	79007	exon2			AGCCTGCGGCACC	AK090696	CCDS10991.2, CCDS42223.1, CCDS73931.1	16q24.3	2008-02-05			ENSG00000003249	ENSG00000003249			28455	protein-coding gene	gene with protein product						12477932	Standard	NM_001288708		Approved	MGC3101, FLJ12582	uc002fqe.1	Q9H9R9	OTTHUMG00000138984	ENST00000002501.6:c.57G>A	16.37:g.90075813C>T			Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	22	0.14	3	NM_024043	8	0.00	0	B4DQS3|Q69YT2|Q9BW25	Silent	SNP	ENST00000002501.6	37	CCDS42223.1																																																																																					0.667	DBNDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000272872.1		NM_024043	
PEMT	10400	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	17480330	17480330	+	5'UTR	SNP	G	G	A			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr17:17480330G>A	ENST00000395783.1	-	0	176				PEMT_ENST00000435340.2_Silent_p.C14C|PEMT_ENST00000255389.5_Silent_p.C36C|RNU6-468P_ENST00000384003.1_RNA|PEMT_ENST00000395781.2_Silent_p.C36C|PEMT_ENST00000395782.1_5'UTR	NM_007169.2	NP_009100.2	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase						cell proliferation (GO:0008283)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	phosphatidyl-N-dimethylethanolamine N-methyltransferase activity (GO:0080101)|phosphatidyl-N-methylethanolamine N-methyltransferase activity (GO:0000773)|phosphatidylethanolamine N-methyltransferase activity (GO:0004608)			endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		GGGTCATAACGCAGAAGTCTG	0.582																																					p.C36C													.	.			0			c.C108T												106.0	86.0	93.0					17																	17480330		2203	4300	6503	SO:0001623	5_prime_UTR_variant	10400	exon2			CATAACGCAGAAG	AF176806	CCDS11186.1, CCDS11187.1, CCDS58520.1	17p11.2	2008-02-05			ENSG00000133027	ENSG00000133027	2.1.1.17		8830	protein-coding gene	gene with protein product		602391				9989271, 17881348	Standard	NM_148173		Approved	PEMPT, PEMT2	uc002grl.4	Q9UBM1	OTTHUMG00000059290	ENST00000395783.1:c.-4C>T	17.37:g.17480330G>A			Somatic	52	0	0		WXS	Illumina HiSeq	.	52	0.31	16	NM_001267552	81	0.51	41	A8MZ66|B4DY41|D3DXC3|Q6IAQ5|Q86VL3|Q9BW86|Q9UHY6|Q9Y6V9	Silent	SNP	ENST00000395783.1	37	CCDS11187.1																																																																																					0.582	PEMT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000131657.1		NM_007169	
SLC47A2	146802	mdanderson.org	37	17	19610016	19610016	+	Missense_Mutation	SNP	G	G	T	rs199838072		TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr17:19610016G>T	ENST00000325411.5	-	9	944	c.894C>A	c.(892-894)agC>agA	p.S298R	SLC47A2_ENST00000350657.5_Missense_Mutation_p.S262R|SLC47A2_ENST00000463318.1_5'UTR	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	298					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	TCATGAGCATGCTGGGGACAG	0.622																																					p.S298R													.	.			0			c.C894A												102.0	90.0	94.0					17																	19610016		2203	4300	6503	SO:0001583	missense	146802	exon9			GAGCATGCTGGGG	AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"""Solute carriers"""	26439	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 2"""	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.894C>A	17.37:g.19610016G>T	ENSP00000326671:p.Ser298Arg		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	36	0.08	3	NM_152908	0		0	A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Missense_Mutation	SNP	ENST00000325411.5	37	CCDS11211.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.540099	0.45176	.	.	ENSG00000180638	ENST00000350657;ENST00000325411;ENST00000456947;ENST00000433844	T;T;T	0.32988	1.43;1.43;1.43	5.36	4.38	0.52667	.	0.081170	0.85682	D	0.000000	T	0.63850	0.2546	H	0.96301	3.8	0.48341	D	0.999631	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.995	T	0.70000	-0.4992	10	0.87932	D	0	-27.8732	7.2143	0.25951	0.0859:0.0:0.743:0.1711	.	262;262;298	Q86VL8-3;Q86VL8-4;Q86VL8	.;.;S47A2_HUMAN	R	262;298;213;262	ENSP00000338084:S262R;ENSP00000326671:S298R;ENSP00000391848:S262R	ENSP00000326671:S298R	S	-	3	2	SLC47A2	19550608	1.000000	0.71417	1.000000	0.80357	0.232000	0.25224	2.638000	0.46562	1.379000	0.46325	0.462000	0.41574	AGC			0.622	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000132242.2		NM_152908	
SLC47A2	146802	mdanderson.org	37	17	19618516	19618516	+	Silent	SNP	C	C	T			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr17:19618516C>T	ENST00000325411.5	-	2	188	c.138G>A	c.(136-138)gtG>gtA	p.V46V	SLC47A2_ENST00000350657.5_Silent_p.V46V|SLC47A2_ENST00000463318.1_5'UTR	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	46					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	TAAAAGTCAGCACCTGGAACA	0.627																																					p.V46V													.	.			0			c.G138A												68.0	67.0	67.0					17																	19618516		2203	4300	6503	SO:0001819	synonymous_variant	146802	exon2			AGTCAGCACCTGG	AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"""Solute carriers"""	26439	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 2"""	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.138G>A	17.37:g.19618516C>T			Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	25	0.12	3	NM_001099646	0		0	A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Silent	SNP	ENST00000325411.5	37	CCDS11211.1																																																																																					0.627	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000132242.2		NM_152908	
ATAD5	79915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	29164229	29164229	+	Missense_Mutation	SNP	A	A	C			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr17:29164229A>C	ENST00000321990.4	+	3	2351	c.1973A>C	c.(1972-1974)aAa>aCa	p.K658T	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	658					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TTCAGAATGAAATTCACCAGA	0.294																																					p.K658T													.	.			0			c.A1973C												23.0	24.0	24.0					17																	29164229		2184	4268	6452	SO:0001583	missense	79915	exon3			GAATGAAATTCAC		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.1973A>C	17.37:g.29164229A>C	ENSP00000313171:p.Lys658Thr		Somatic	248	0	0		WXS	Illumina HiSeq	.	435	0.21	90	NM_024857	0		0	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.674959	0.29783	.	.	ENSG00000176208	ENST00000321990	T	0.15834	2.39	5.64	4.57	0.56435	.	0.262277	0.42821	D	0.000659	T	0.34832	0.0911	M	0.61703	1.905	0.28161	N	0.928993	D;D	0.89917	1.0;0.999	D;D	0.74023	0.982;0.942	T	0.16158	-1.0412	10	0.72032	D	0.01	.	8.4821	0.33049	0.9121:0.0:0.0879:0.0	.	658;658	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	T	658	ENSP00000313171:K658T	ENSP00000313171:K658T	K	+	2	0	ATAD5	26188355	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.095000	0.57728	1.084000	0.41184	0.459000	0.35465	AAA			0.294	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256206.2		NM_024857	
KRTAP4-8	728224	hgsc.bcm.edu;mdanderson.org	37	17	39254149	39254149	+	Missense_Mutation	SNP	G	G	C	rs201246375		TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr17:39254149G>C	ENST00000333822.4	-	1	244	c.188C>G	c.(187-189)aCc>aGc	p.T63S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	63	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						GCGACAGCAGGTGGGCTGGCA	0.652																																					p.T63S													.	.			0			c.C188G												7.0	10.0	9.0					17																	39254149		651	1515	2166	SO:0001583	missense	728224	exon1			CAGCAGGTGGGCT	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.188C>G	17.37:g.39254149G>C	ENSP00000328444:p.Thr63Ser		Somatic	18	0	0		WXS	Illumina HiSeq	.	18	0.22	4	NM_031960	0		0	A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	3.249	-0.153662	0.06585	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.01215	5.16	3.11	-1.04	0.10068	.	1.573260	0.03861	N	0.273912	T	0.00724	0.0024	N	0.10809	0.05	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.43637	-0.9379	10	0.05721	T	0.95	.	4.7356	0.12986	0.2319:0.434:0.3341:0.0	.	63	Q9BYQ9	KRA48_HUMAN	S	63	ENSP00000328444:T63S	ENSP00000414561:T63S	T	-	2	0	KRTAP4-8	36507675	0.000000	0.05858	0.109000	0.21407	0.234000	0.25298	-2.396000	0.01052	-0.528000	0.06366	0.449000	0.29647	ACC			0.652	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257684.1		NM_031960	
KRTAP4-6	81871	broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	39296134	39296134	+	Silent	SNP	G	G	A			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr17:39296134G>A	ENST00000345847.4	-	1	605	c.606C>T	c.(604-606)tcC>tcT	p.S202S		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	202						keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCAGCAAGAGGAGGCACAGC	0.572																																					p.S202S													.	KRTAP4-6	46		0			c.C606T																																									SO:0001819	synonymous_variant	81871	exon1			GCAAGAGGAGGCA	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.606C>T	17.37:g.39296134G>A			Somatic	206	0.0048543689	1		WXS	Illumina HiSeq	Phase_I	249	0.36	90	NM_030976	0		0	Q9BYR1	Silent	SNP	ENST00000345847.4	37	CCDS54125.1																																																																																					0.572	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257779.1			
LRRC46	90506	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	45914165	45914165	+	Silent	SNP	G	G	A			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr17:45914165G>A	ENST00000269025.4	+	8	1008	c.645G>A	c.(643-645)cgG>cgA	p.R215R		NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	215										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						GGGAGCACCGGCAACAGACGG	0.682																																					p.R215R													.	.			0			c.G645A												39.0	43.0	42.0					17																	45914165		2203	4300	6503	SO:0001819	synonymous_variant	90506	exon8			GCACCGGCAACAG		CCDS11518.1	17q21.32	2005-08-09				ENSG00000141294			25047	protein-coding gene	gene with protein product						12477932	Standard	NM_033413		Approved	MGC16309	uc002ima.3	Q96FV0		ENST00000269025.4:c.645G>A	17.37:g.45914165G>A			Somatic	67	0	0		WXS	Illumina HiSeq	.	80	0.30	24	NM_033413	4	0.50	2	A8K9Q0	Silent	SNP	ENST00000269025.4	37	CCDS11518.1																																																																																					0.682	LRRC46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000441377.1		NM_033413	
TNRC6C	57690	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	76075489	76075489	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr17:76075489A>G	ENST00000588061.1	+	12	3951	c.3224A>G	c.(3223-3225)aAt>aGt	p.N1075S	TNRC6C_ENST00000544502.1_Missense_Mutation_p.N1072S|TNRC6C_ENST00000541771.1_Missense_Mutation_p.N1075S|TNRC6C_ENST00000301624.4_Missense_Mutation_p.N1075S|TNRC6C_ENST00000335749.4_Missense_Mutation_p.N1072S|TNRC6C_ENST00000588847.1_Missense_Mutation_p.N1072S			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1075					embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CCGAGTGGCAATCTGGGTATG	0.502																																					p.N1075S													.	.			0			c.A3224G												108.0	112.0	110.0					17																	76075489		2131	4256	6387	SO:0001583	missense	57690	exon11			GTGGCAATCTGGG	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.3224A>G	17.37:g.76075489A>G	ENSP00000468647:p.Asn1075Ser		Somatic	70	0	0		WXS	Illumina HiSeq	.	94	0.26	24	NM_018996	0		0	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	A	14.56	2.572916	0.45798	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	6.08	1.44	0.22558	.	0.364478	0.34223	N	0.004152	T	0.10551	0.0258	L	0.39245	1.2	0.35513	D	0.800815	B;B	0.12630	0.006;0.006	B;B	0.20384	0.02;0.029	T	0.33163	-0.9879	10	0.07175	T	0.84	-2.8293	6.4052	0.21660	0.6788:0.1284:0.1929:0.0	.	1072;1075	G3XAB8;Q9HCJ0	.;TNR6C_HUMAN	S	1075;1072;1072;1075;1075;1072	ENSP00000336783:N1072S;ENSP00000301624:N1075S;ENSP00000440310:N1075S;ENSP00000442421:N1072S	ENSP00000301624:N1075S	N	+	2	0	TNRC6C	73587084	.	.	0.998000	0.56505	0.992000	0.81027	.	.	-0.032000	0.13758	0.533000	0.62120	AAT			0.502	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000395947.1		NM_018996	
RNF213	57674	mdanderson.org	37	17	78360657	78360657	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr17:78360657G>T	ENST00000582970.1	+	63	15031	c.14888G>T	c.(14887-14889)cGc>cTc	p.R4963L	RNF213_ENST00000336301.6_Missense_Mutation_p.R3036L|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R5012L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4963					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATCGTCAGCCGCTTCCTCCAG	0.582																																					p.R4963L													.	.			0			c.G14888T												33.0	30.0	31.0					17																	78360657		2203	4300	6503	SO:0001583	missense	57674	exon63			TCAGCCGCTTCCT	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.14888G>T	17.37:g.78360657G>T	ENSP00000464087:p.Arg4963Leu		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	40	0.08	3	NM_001256071	24	0.00	0	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346338	0.82022	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T	0.34072	1.38	5.04	5.04	0.67666	.	0.150970	0.43260	D	0.000594	T	0.61236	0.2331	M	0.84846	2.72	0.38636	D	0.951496	D	0.76494	0.999	D	0.66716	0.946	T	0.70245	-0.4925	10	0.87932	D	0	.	12.2808	0.54762	0.0893:0.0:0.9107:0.0	.	3036	Q63HN8	RN213_HUMAN	L	4963;5012;3036;313	ENSP00000338218:R3036L	ENSP00000338218:R3036L	R	+	2	0	RNF213	75975252	1.000000	0.71417	0.980000	0.43619	0.734000	0.41952	5.162000	0.64942	2.353000	0.79882	0.561000	0.74099	CGC			0.582	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000443298.1		NM_020914	
ABCA7	10347	mdanderson.org	37	19	1062286	1062286	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr19:1062286G>T	ENST00000263094.6	+	42	5917	c.5686G>T	c.(5686-5688)Ggt>Tgt	p.G1896C	ABCA7_ENST00000435683.2_Missense_Mutation_p.G1758C|ABCA7_ENST00000433129.1_Missense_Mutation_p.G1896C	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1896	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		GCGCCTGCGCGGTGTCCCGGA	0.677																																					p.G1896C													ABCA7,NS,carcinoma,0,1	ABCA7	0	1	0			c.G5686T												82.0	90.0	87.0					19																	1062286		2203	4296	6499	SO:0001583	missense	10347	exon42			CTGCGCGGTGTCC	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.5686G>T	19.37:g.1062286G>T	ENSP00000263094:p.Gly1896Cys		Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	29	0.10	3	NM_019112	46	0.00	0	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816112	0.50527	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.97016	-4.21;-4.21	3.61	2.55	0.30701	ATPase, AAA+ type, core (1);ABC transporter-like (2);	.	.	.	.	D	0.98770	0.9586	H	0.98951	4.38	0.49582	D	0.9998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.989	D	0.98290	1.0513	9	0.87932	D	0	.	11.1274	0.48325	0.0:0.0:0.8143:0.1857	.	1021;1896	D6W5Y0;Q8IZY2	.;ABCA7_HUMAN	C	1896	ENSP00000263094:G1896C;ENSP00000414062:G1896C	ENSP00000263094:G1896C	G	+	1	0	ABCA7	1013286	1.000000	0.71417	0.019000	0.16419	0.327000	0.28475	7.306000	0.78905	0.717000	0.32145	0.555000	0.69702	GGT			0.677	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000394993.1		NM_019112	
ICAM3	3385	mdanderson.org	37	19	10450225	10450225	+	Silent	SNP	C	C	T			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr19:10450225C>T	ENST00000160262.5	-	1	274	c.66G>A	c.(64-66)ctG>ctA	p.L22L	ICAM3_ENST00000589261.1_5'UTR	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	22					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CTGGGGTCAGCAGACAGCAGA	0.597																																					p.L22L													.	.			0			c.G66A												52.0	49.0	50.0					19																	10450225		2203	4300	6503	SO:0001819	synonymous_variant	3385	exon1			GGTCAGCAGACAG		CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.66G>A	19.37:g.10450225C>T			Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	38	0.08	3	NM_002162	16	0.00	0	Q6PD68	Silent	SNP	ENST00000160262.5	37	CCDS12235.1																																																																																					0.597	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451234.1			
TYK2	7297	bcgsc.ca	37	19	10464862	10464862	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr19:10464862C>T	ENST00000525621.1	-	20	3245	c.2764G>A	c.(2764-2766)Ggc>Agc	p.G922S	TYK2_ENST00000529422.1_5'Flank|TYK2_ENST00000264818.6_Missense_Mutation_p.G922S|TYK2_ENST00000524462.1_Missense_Mutation_p.G737S	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	922	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TCGCCAGTGCCGTCGTTGGTC	0.632																																					p.G922S													.	TYK2	126		0			c.G2764A												123.0	106.0	112.0					19																	10464862		2203	4300	6503	SO:0001583	missense	7297	exon20			CAGTGCCGTCGTT		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2764G>A	19.37:g.10464862C>T	ENSP00000431885:p.Gly922Ser		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_1	58	0.07	4	NM_003331	56	0.00	0	Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929129	0.92389	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792	D;D;D	0.81996	-1.56;-1.56;-1.56	5.61	2.37	0.29283	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000047	T	0.79678	0.4487	N	0.13299	0.325	0.58432	D	0.999999	D	0.71674	0.998	D	0.65773	0.938	T	0.77286	-0.2644	10	0.44086	T	0.13	-38.9428	8.7143	0.34401	0.0:0.7518:0.0:0.2482	.	922	P29597	TYK2_HUMAN	S	737;922;922;669	ENSP00000433203:G737S;ENSP00000431885:G922S;ENSP00000264818:G922S	ENSP00000264818:G922S	G	-	1	0	TYK2	10325862	0.236000	0.23804	0.974000	0.42286	0.997000	0.91878	0.850000	0.27737	0.745000	0.32763	0.655000	0.94253	GGC			0.632	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389443.1			
NUDT19	390916	broad.mit.edu;mdanderson.org	37	19	33183483	33183483	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr19:33183483G>T	ENST00000397061.3	+	1	617	c.617G>T	c.(616-618)cGg>cTg	p.R206L	CTD-2538C1.2_ENST00000592431.1_lincRNA	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	206	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					CCTTTCTTGCGGGGCACCACT	0.687																																					p.R206L													.	NUDT19	15		0			c.G617T												13.0	15.0	14.0					19																	33183483		1986	4150	6136	SO:0001583	missense	390916	exon1			TCTTGCGGGGCAC		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"""Nudix motif containing"""	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.617G>T	19.37:g.33183483G>T	ENSP00000380251:p.Arg206Leu		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	52	0.06	3	NM_001105570	0		0		Missense_Mutation	SNP	ENST00000397061.3	37	CCDS42543.1	.	.	.	.	.	.	.	.	.	.	g	14.28	2.487037	0.44249	.	.	ENSG00000213965	ENST00000397061	T	0.21361	2.01	4.79	-6.02	0.02192	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	1.373060	0.05371	U	0.535512	T	0.13543	0.0328	L	0.33753	1.03	0.09310	N	1	P	0.38597	0.639	B	0.33750	0.169	T	0.25676	-1.0125	10	0.30078	T	0.28	-0.2992	11.1937	0.48700	0.1358:0.5655:0.2987:0.0	.	206	A8MXV4	NUD19_HUMAN	L	206	ENSP00000380251:R206L	ENSP00000380251:R206L	R	+	2	0	NUDT19	37875323	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.592000	0.05747	-0.908000	0.03857	-1.518000	0.00936	CGG			0.687	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000450338.3		XM_372723	
TEAD2	8463	mdanderson.org	37	19	49844664	49844664	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr19:49844664G>T	ENST00000311227.2	-	12	1351	c.1261C>A	c.(1261-1263)Ctg>Atg	p.L421M	TEAD2_ENST00000598810.1_Missense_Mutation_p.L425M|TEAD2_ENST00000593945.1_Missense_Mutation_p.L425M|TEAD2_ENST00000539846.1_Missense_Mutation_p.L293M|CTC-301O7.4_ENST00000358234.4_lincRNA|TEAD2_ENST00000601519.1_Missense_Mutation_p.L424M|TEAD2_ENST00000377214.4_Missense_Mutation_p.L424M	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	421	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GTGCAGAGCAGCAGTTCCTGG	0.612																																					p.L425M													.	.			0			c.C1273A												78.0	66.0	70.0					19																	49844664		2203	4300	6503	SO:0001583	missense	8463	exon13			AGAGCAGCAGTTC	X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.1261C>A	19.37:g.49844664G>T	ENSP00000310701:p.Leu421Met		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	41	0.07	3	NM_001256661	103	0.00	0	B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Missense_Mutation	SNP	ENST00000311227.2	37	CCDS12761.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857811	0.51376	.	.	ENSG00000074219	ENST00000311227;ENST00000377214;ENST00000539846	T;T;T	0.39056	1.1;1.1;1.1	4.27	3.23	0.37069	.	0.000000	0.47455	D	0.000225	T	0.63177	0.2489	M	0.80616	2.505	0.52501	D	0.999954	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.999	T	0.67114	-0.5752	10	0.87932	D	0	-13.6598	10.6368	0.45569	0.0989:0.0:0.9011:0.0	.	293;421;424	B4DTJ6;Q15562;Q8NA25	.;TEAD2_HUMAN;.	M	421;424;293	ENSP00000310701:L421M;ENSP00000366419:L424M;ENSP00000437928:L293M	ENSP00000310701:L421M	L	-	1	2	TEAD2	54536476	0.983000	0.35010	0.998000	0.56505	0.391000	0.30476	1.823000	0.39062	1.098000	0.41479	0.650000	0.86243	CTG			0.612	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000465465.1		NM_003598	
FBXO41	150726	mdanderson.org	37	2	73493769	73493769	+	Missense_Mutation	SNP	G	G	T	rs369432452		TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr2:73493769G>T	ENST00000521871.1	-	3	1362	c.947C>A	c.(946-948)gCg>gAg	p.A316E	FBXO41_ENST00000295133.5_Missense_Mutation_p.A377E|FBXO41_ENST00000520530.2_Missense_Mutation_p.A316E			Q8TF61	FBX41_HUMAN	F-box protein 41	316										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GGCCTCCCGCGCCGCCGTCTC	0.672																																					p.A316E													FBXO41_ENST00000521871,colon,carcinoma,0,1	FBXO41_ENST00000521871	0	1	0			c.C947A												31.0	34.0	33.0					2																	73493769		2023	4181	6204	SO:0001583	missense	150726	exon2			TCCCGCGCCGCCG	AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"""F-boxes /  ""other"""""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.947C>A	2.37:g.73493769G>T	ENSP00000428646:p.Ala316Glu		Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	32	0.09	3	NM_001080410	0		0	G3V0Z7|Q2M1V8	Missense_Mutation	SNP	ENST00000521871.1	37	CCDS46337.2	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498663	0.26861	.	.	ENSG00000163013	ENST00000295133;ENST00000521871;ENST00000520530	T;T	0.21361	2.01;2.01	5.17	5.17	0.71159	.	0.510111	0.20823	N	0.085030	T	0.13286	0.0322	N	0.19112	0.55	0.54753	D	0.99998	B	0.31040	0.305	B	0.31191	0.125	T	0.11275	-1.0594	10	0.11794	T	0.64	.	13.0305	0.58839	0.0:0.1623:0.8377:0.0	.	316	Q8TF61	FBX41_HUMAN	E	377;316;377	ENSP00000295133:A377E;ENSP00000428646:A316E	ENSP00000295133:A377E	A	-	2	0	FBXO41	73347277	1.000000	0.71417	0.500000	0.27589	0.854000	0.48673	6.165000	0.71891	2.408000	0.81797	0.453000	0.30009	GCG			0.672	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000377381.1			
NEB	4703	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	152381766	152381766	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr2:152381766C>T	ENST00000172853.10	-	123	17227	c.17080G>A	c.(17080-17082)Gtc>Atc	p.V5694I	NEB_ENST00000604864.1_Missense_Mutation_p.V7395I|NEB_ENST00000409198.1_Missense_Mutation_p.V5694I|NEB_ENST00000397345.3_Missense_Mutation_p.V7395I|NEB_ENST00000427231.2_Missense_Mutation_p.V7395I|NEB_ENST00000603639.1_Missense_Mutation_p.V7395I			P20929	NEBU_HUMAN	nebulin	5694					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCTCCTTGACAAACTTCTTT	0.398																																					p.V7430I													.	.			0			c.G22288A												124.0	113.0	116.0					2																	152381766		1859	4098	5957	SO:0001583	missense	4703	exon152			CCTTGACAAACTT	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.17080G>A	2.37:g.152381766C>T	ENSP00000172853:p.Val5694Ile		Somatic	112	0	0		WXS	Illumina HiSeq	.	109	0.26	28	NM_001271208	1	0.00	0	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	33	5.259983	0.95368	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	6.06	6.06	0.98353	.	0.109020	0.64402	D	0.000012	T	0.51618	0.1685	N	0.22421	0.69	0.80722	D	1	P;P;P	0.51147	0.706;0.942;0.936	P;P;P	0.56960	0.644;0.77;0.81	T	0.49934	-0.8886	10	0.52906	T	0.07	.	16.8285	0.85937	0.0:0.8717:0.1283:0.0	.	5694;7395;2125	P20929;F8WCP0;Q14215	NEBU_HUMAN;.;.	I	5694;7395;7395;1743;2125;5694	ENSP00000386259:V5694I;ENSP00000380505:V7395I;ENSP00000416578:V7395I;ENSP00000410961:V2125I;ENSP00000172853:V5694I	ENSP00000172853:V5694I	V	-	1	0	NEB	152090012	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.820000	0.62671	2.871000	0.98454	0.655000	0.94253	GTC			0.398	NEB-201	KNOWN	basic	protein_coding	protein_coding				NM_004543	
B3GNT7	93010	mdanderson.org	37	2	232263436	232263436	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr2:232263436G>T	ENST00000287590.5	+	2	1267	c.1006G>T	c.(1006-1008)Gtg>Ttg	p.V336L		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	336					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GTGCCTGGAGGTGCTGGGCGT	0.657																																					p.V336L													.	.			0			c.G1006T												40.0	47.0	45.0					2																	232263436		2056	4183	6239	SO:0001583	missense	93010	exon2			CTGGAGGTGCTGG	AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"""Beta 3-glycosyltransferases"""	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.1006G>T	2.37:g.232263436G>T	ENSP00000287590:p.Val336Leu		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	41	0.07	3	NM_145236	2	0.00	0	B3KWY4|B7WNP0	Missense_Mutation	SNP	ENST00000287590.5	37	CCDS46540.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032319	0.54790	.	.	ENSG00000156966	ENST00000287590	T	0.40476	1.03	5.05	4.14	0.48551	.	0.126772	0.52532	D	0.000061	T	0.35008	0.0917	L	0.37697	1.125	0.58432	D	0.999994	P	0.43938	0.822	B	0.40702	0.338	T	0.18681	-1.0329	10	0.40728	T	0.16	.	14.6227	0.68597	0.0:0.1457:0.8543:0.0	.	336	Q8NFL0	B3GN7_HUMAN	L	336	ENSP00000287590:V336L	ENSP00000287590:V336L	V	+	1	0	B3GNT7	231971680	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	4.714000	0.61902	2.355000	0.79922	0.561000	0.74099	GTG			0.657	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000332827.1		NM_145236	
YTHDF1	54915	hgsc.bcm.edu	37	20	61833918	61833918	+	Silent	SNP	G	G	A	rs368566767		TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr20:61833918G>A	ENST00000370339.3	-	4	1715	c.1374C>T	c.(1372-1374)taC>taT	p.Y458Y	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Silent_p.Y408Y	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	458	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.						N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CACTGGTGCCGTAGTCCACGG	0.567																																					p.Y458Y													.	.			0			c.C1374T							G		0,4406		0,0,2203	83.0	84.0	84.0		1374	-1.1	1.0	20		84	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	YTHDF1	NM_017798.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		458/560	61833918	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54915	exon4			GGTGCCGTAGTCC	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1374C>T	20.37:g.61833918G>A			Somatic	84	0	0		WXS	Illumina HiSeq	.	90	0.04	4	NM_017798	44	0.00	0	Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Silent	SNP	ENST00000370339.3	37	CCDS13511.1																																																																																					0.567	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080110.2		NM_017798	
BAGE2	85319	broad.mit.edu	37	21	11087107	11087108	+	RNA	INS	-	-	A	rs59538900|rs55727275|rs397723408|rs570677033		TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr21:11087107_11087108insA	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gactccatctcaaaaaaaaatt	0.46																																					.													.	.			0			.																																											85319	.			CCATCTCAAAAAA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11087116_11087116dupA			Somatic	7	0	0		WXS	Illumina HiSeq	Phase_I	7	0.43	3	.	0		0	A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.460	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000157417.3		NM_182482	
AP001604.3	0	broad.mit.edu	37	21	28793479	28793480	+	lincRNA	INS	-	-	T			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr21:28793479_28793480insT	ENST00000420186.2	-	0	202																											ttatatgcatatttttttttct	0.337																																					.													.	.			0			.																																											0	.			ATGCATATTTTTT																													21.37:g.28793488_28793488dupT			Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	5	0.20	1	.	0		0		RNA	INS	ENST00000420186.2	37																																																																																						0.337	AP001604.3-001	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000171665.2			
LRRC3	81543	mdanderson.org	37	21	45876718	45876718	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr21:45876718C>T	ENST00000291592.4	+	2	508	c.191C>T	c.(190-192)gCc>gTc	p.A64V	LRRC3-AS1_ENST00000426578.1_RNA	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	64	LRRNT.					integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		GACATCCCGGCCAACACCGTG	0.677																																					p.A64V													.	.			0			c.C191T												36.0	38.0	37.0					21																	45876718		2202	4300	6502	SO:0001583	missense	81543	exon2			TCCCGGCCAACAC	AB058646	CCDS13711.1	21q22.3	2011-12-07	2002-06-20		ENSG00000160233	ENSG00000160233			14965	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 102"""	C21orf102		12036297	Standard	NM_030891		Approved		uc002zfa.3	Q9BY71	OTTHUMG00000040847	ENST00000291592.4:c.191C>T	21.37:g.45876718C>T	ENSP00000291592:p.Ala64Val		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	46	0.07	3	NM_030891	5	0.00	0	Q0VDJ2	Missense_Mutation	SNP	ENST00000291592.4	37	CCDS13711.1	.	.	.	.	.	.	.	.	.	.	C	2.670	-0.277677	0.05679	.	.	ENSG00000160233	ENST00000291592;ENST00000471776	D	0.89746	-2.56	4.47	2.51	0.30379	Leucine-rich repeat-containing N-terminal (1);	0.691229	0.14232	N	0.332649	T	0.78868	0.4351	L	0.37697	1.125	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.59537	-0.7436	10	0.23891	T	0.37	-11.2115	2.2239	0.03979	0.2732:0.3849:0.2428:0.0991	.	64	Q9BY71	LRRC3_HUMAN	V	64	ENSP00000291592:A64V	ENSP00000291592:A64V	A	+	2	0	LRRC3	44701146	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	-0.019000	0.12546	2.210000	0.71456	0.561000	0.74099	GCC			0.677	LRRC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000098095.3			
RFPL2	10739	bcgsc.ca	37	22	32589088	32589088	+	Silent	SNP	G	G	A	rs77728135	byFrequency	TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr22:32589088G>A	ENST00000400237.1	-	4	1292	c.357C>T	c.(355-357)gcC>gcT	p.A119A	RFPL2_ENST00000248980.4_Silent_p.A58A|RFPL2_ENST00000400236.3_Silent_p.A29A|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248983.4_Silent_p.A29A			O75678	RFPL2_HUMAN	ret finger protein-like 2	119			A -> T (in dbSNP:rs8135276).				zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TGAGGCAGACGGCGCATCCAC	0.532													.|||	38	0.00758786	0.0076	0.0	5008	,	,		18659	0.0149		0.0	False		,,,				2504	0.0133				p.A119A													.	RFPL2	81		0			c.C357T												99.0	97.0	98.0					22																	32589088		2203	4300	6503	SO:0001819	synonymous_variant	10739	exon4			GCAGACGGCGCAT	AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"""RING-type (C3HC4) zinc fingers"""	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.357C>T	22.37:g.32589088G>A			Somatic	161	0.0124223602	2		WXS	Illumina HiSeq	Phase_1	213	0.04	9	NM_001098527	18	0.00	0		Silent	SNP	ENST00000400237.1	37	CCDS43009.2																																																																																					0.532	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000075262.2		NM_006605	
CACNA1I	8911	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	40055123	40055123	+	Splice_Site	SNP	T	T	G			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr22:40055123T>G	ENST00000402142.3	+	12	2330		c.e12+2		CACNA1I_ENST00000404898.1_Splice_Site|CACNA1I_ENST00000401624.1_Splice_Site|CACNA1I_ENST00000336649.4_Splice_Site|CACNA1I_ENST00000407673.1_Splice_Site|CACNA1I_ENST00000400164.3_Splice_Site	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit						axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CATCTTCAGGTGAGCCTGCCC	0.622																																					.													.	.			0			c.2330+2T>G												47.0	49.0	48.0					22																	40055123		2137	4252	6389	SO:0001630	splice_region_variant	8911	exon12			TTCAGGTGAGCCT	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.2330+2T>G	22.37:g.40055123T>G			Somatic	51	0	0		WXS	Illumina HiSeq	.	53	0.11	6	NM_021096	0		0	B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Splice_Site	SNP	ENST00000402142.3	37	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.593200	0.86953	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3995	0.67034	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1I	38385069	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.951000	0.87819	1.856000	0.53863	0.533000	0.62120	.			0.622	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000321290.1		NM_001003406	Intron
ITGA9	3680	mdanderson.org	37	3	37550050	37550050	+	Splice_Site	SNP	G	G	T			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr3:37550050G>T	ENST00000264741.5	+	8	1085	c.829G>T	c.(829-831)Gtt>Ttt	p.V277F	ITGA9_ENST00000422441.1_Splice_Site_p.V277F	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	277					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CATTCCATAGGTTTATATTTT	0.333																																					p.V277F													.	.			0			c.G829T												66.0	68.0	67.0					3																	37550050		2203	4300	6503	SO:0001630	splice_region_variant	3680	exon8			CCATAGGTTTATA	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.829-1G>T	3.37:g.37550050G>T			Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	43	0.07	3	NM_002207	0		0	Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497775	0.85069	.	.	ENSG00000144668	ENST00000422441;ENST00000264741	T;T	0.19532	2.14;2.14	4.6	4.6	0.57074	.	0.061932	0.64402	D	0.000004	T	0.56819	0.2011	M	0.93375	3.41	0.80722	D	1	D;D	0.67145	0.996;0.988	D;D	0.67231	0.95;0.928	T	0.71751	-0.4498	9	.	.	.	.	17.4352	0.87549	0.0:0.0:1.0:0.0	.	277;277	Q13797;E9PDS3	ITA9_HUMAN;.	F	277	ENSP00000397258:V277F;ENSP00000264741:V277F	.	V	+	1	0	ITGA9	37525054	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	5.452000	0.66638	2.097000	0.63578	0.655000	0.94253	GTT			0.333	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253361.1		NM_002207	Missense_Mutation
TMEM108	66000	broad.mit.edu	37	3	133099916	133099916	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr3:133099916A>G	ENST00000321871.6	+	4	1571	c.1361A>G	c.(1360-1362)gAc>gGc	p.D454G	TMEM108_ENST00000393130.3_Missense_Mutation_p.D454G|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000515826.1_Missense_Mutation_p.D454G	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	454						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCCGAGGGGGACAAACCGCAG	0.622																																					p.D454G													.	TMEM108	67		0			c.A1361G												119.0	99.0	106.0					3																	133099916		2203	4300	6503	SO:0001583	missense	66000	exon4			AGGGGGACAAACC	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.1361A>G	3.37:g.133099916A>G	ENSP00000324651:p.Asp454Gly		Somatic	164	0.006097561	1		WXS	Illumina HiSeq	Phase_I	212	0.02	5	NM_023943	0		0	D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.269667	0.59540	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000515826	T;T;T	0.60040	0.39;0.39;0.22	3.76	3.76	0.43208	.	0.159344	0.38959	N	0.001503	T	0.67757	0.2927	L	0.60455	1.87	0.36988	D	0.894642	D;B	0.71674	0.998;0.27	D;B	0.78314	0.991;0.302	T	0.73000	-0.4120	10	0.59425	D	0.04	-15.8929	7.8354	0.29368	0.9045:0.0:0.0955:0.0	.	454;454	E9PB58;Q6UXF1	.;TM108_HUMAN	G	454	ENSP00000324651:D454G;ENSP00000376838:D454G;ENSP00000423338:D454G	ENSP00000324651:D454G	D	+	2	0	TMEM108	134582606	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.558000	0.60789	1.711000	0.51337	0.459000	0.35465	GAC			0.622	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356907.2		NM_023943	
ERICH6	131831	broad.mit.edu	37	3	150421540	150421540	+	Missense_Mutation	SNP	T	T	A	rs373770678		TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr3:150421540T>A	ENST00000295910.6	-	1	198	c.146A>T	c.(145-147)gAg>gTg	p.E49V	RP11-103G8.2_ENST00000475393.1_RNA|RP11-103G8.2_ENST00000471093.1_RNA|FAM194A_ENST00000491361.1_Intron	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ctcctcctcctccacctcttc	0.602													t|||	1	0.000199681	0.0	0.0	5008	,	,		4577	0.0		0.001	False		,,,				2504	0.0				p.E49V													.	FAM194A	91		0			c.A146T							T	VAL/GLU	0,4406		0,0,2203	133.0	114.0	121.0		146	0.4	0.0	3		121	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM194A	NM_152394.3	121	0,1,6502	AA,AT,TT		0.0116,0.0,0.0077	possibly-damaging	49/664	150421540	1,13005	2203	4300	6503	SO:0001583	missense	131831	exon1			TCCTCCTCCACCT																												ENST00000295910.6:c.146A>T	3.37:g.150421540T>A	ENSP00000295910:p.Glu49Val		Somatic	104	0.0096153846	1		WXS	Illumina HiSeq	Phase_I	131	0.05	6	NM_152394	0		0		Missense_Mutation	SNP	ENST00000295910.6	37	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	T	12.23	1.875790	0.33162	0.0	1.16E-4	ENSG00000163645	ENST00000295910;ENST00000474463	T;T	0.55930	2.58;0.49	1.59	0.41	0.16387	.	1.029790	0.07857	N	0.965596	T	0.22975	0.0555	N	0.08118	0	0.09310	N	0.999992	P	0.40302	0.712	B	0.29862	0.108	T	0.09930	-1.0652	10	0.29301	T	0.29	-0.7638	3.0803	0.06260	0.0:0.2792:0.0:0.7208	.	49	Q7L0X2	F194A_HUMAN	V	49	ENSP00000295910:E49V;ENSP00000419304:E49V	ENSP00000295910:E49V	E	-	2	0	FAM194A	151904230	0.000000	0.05858	0.032000	0.17829	0.050000	0.14768	-0.743000	0.04845	0.136000	0.18733	0.352000	0.21897	GAG			0.602	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257666.1			
Unknown	0	bcgsc.ca	37	4	8983308	8983308	+	IGR	SNP	C	C	G			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr4:8983308C>G								HMX1 (109765 upstream) : AC073648.1 (41750 downstream)																							GGAACCTGCTCATCATCCTGG	0.587																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			CCTGCTCATCATC																													4.37:g.8983308C>G			Somatic	22	0	0		WXS	Illumina HiSeq	Phase_1	34	0.21	7	.	0		0		RNA	SNP		37																																																																																					0	0.587										
Unknown	0	bcgsc.ca	37	4	8983310	8983310	+	IGR	SNP	T	T	G			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr4:8983310T>G								HMX1 (109767 upstream) : AC073648.1 (41748 downstream)																							AACCTGCTCATCATCCTGGCT	0.587																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			TGCTCATCATCCT																													4.37:g.8983310T>G			Somatic	23	0	0		WXS	Illumina HiSeq	Phase_1	33	0.18	6	.	0		0		RNA	SNP		37																																																																																					0	0.587										
ATP8A1	10396	hgsc.bcm.edu	37	4	42524317	42524317	+	Splice_Site	SNP	C	C	A			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr4:42524317C>A	ENST00000381668.5	-	22	2039		c.e22-1		ATP8A1_ENST00000264449.10_Splice_Site	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1						cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GTTCTTAACCCTGAAAAAGAT	0.408																																					.													.	.			0			c.1763-1G>T												60.0	59.0	59.0					4																	42524317		2203	4300	6503	SO:0001630	splice_region_variant	10396	exon22			TTAACCCTGAAAA	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1808-1G>T	4.37:g.42524317C>A			Somatic	71	0	0		WXS	Illumina HiSeq	.	65	0.08	5	NM_001105529	0		0	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Splice_Site	SNP	ENST00000381668.5	37	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074882	0.36566	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8487	0.96730	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP8A1	42219074	1.000000	0.71417	0.991000	0.47740	0.020000	0.10135	6.864000	0.75494	2.748000	0.94277	0.650000	0.86243	.			0.408	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000216861.2		NM_006095	Intron
SETD7	80854	mdanderson.org	37	4	140432921	140432921	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr4:140432921C>T	ENST00000274031.3	-	8	1633	c.997G>A	c.(997-999)Gtt>Att	p.V333I	SETD7_ENST00000506866.2_Intron	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	333	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin modification (GO:0016568)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					CCATAGGCAACGGTGAGCTCT	0.587																																					p.V333I													.	.			0			c.G997A												84.0	81.0	82.0					4																	140432921		2203	4300	6503	SO:0001583	missense	80854	exon8			AGGCAACGGTGAG	AB051504	CCDS3748.1	4q31.1	2011-07-01			ENSG00000145391	ENSG00000145391		"""Chromatin-modifying enzymes / K-methyltransferases"""	30412	protein-coding gene	gene with protein product		606594				11850410, 11779497	Standard	NM_030648		Approved	KIAA1717, SET7, SET7/9, Set9, KMT7	uc003ihw.3	Q8WTS6	OTTHUMG00000133385	ENST00000274031.3:c.997G>A	4.37:g.140432921C>T	ENSP00000274031:p.Val333Ile		Somatic	54	0	0		WXS	Illumina HiSeq	Phase_I	47	0.06	3	NM_030648	1	0.00	0	B5WWL3|Q0VAH3|Q4W5A9|Q9C0E6	Missense_Mutation	SNP	ENST00000274031.3	37	CCDS3748.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682692	0.88542	.	.	ENSG00000145391	ENST00000274031	T	0.80033	-1.33	5.8	4.95	0.65309	SET domain (3);	0.000000	0.85682	D	0.000000	T	0.80844	0.4701	L	0.53729	1.69	0.80722	D	1	P	0.45126	0.851	P	0.44447	0.45	T	0.83198	-0.0080	10	0.87932	D	0	-14.0578	16.952	0.86248	0.0:0.8723:0.1277:0.0	.	333	Q8WTS6	SETD7_HUMAN	I	333	ENSP00000274031:V333I	ENSP00000274031:V333I	V	-	1	0	SETD7	140652371	1.000000	0.71417	0.796000	0.32109	0.997000	0.91878	7.607000	0.82883	1.454000	0.47793	0.561000	0.74099	GTT			0.587	SETD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257236.1		NM_030648	
SETD7	80854	mdanderson.org	37	4	140432973	140432973	+	Silent	SNP	G	G	T			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr4:140432973G>T	ENST00000274031.3	-	8	1581	c.945C>A	c.(943-945)ccC>ccA	p.P315P	SETD7_ENST00000506866.2_Intron	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	315	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin modification (GO:0016568)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					TGCATTTGATGGGCCCAAAAC	0.582																																					p.P315P													.	.			0			c.C945A												80.0	77.0	78.0					4																	140432973		2203	4300	6503	SO:0001819	synonymous_variant	80854	exon8			TTTGATGGGCCCA	AB051504	CCDS3748.1	4q31.1	2011-07-01			ENSG00000145391	ENSG00000145391		"""Chromatin-modifying enzymes / K-methyltransferases"""	30412	protein-coding gene	gene with protein product		606594				11850410, 11779497	Standard	NM_030648		Approved	KIAA1717, SET7, SET7/9, Set9, KMT7	uc003ihw.3	Q8WTS6	OTTHUMG00000133385	ENST00000274031.3:c.945C>A	4.37:g.140432973G>T			Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	42	0.07	3	NM_030648	0		0	B5WWL3|Q0VAH3|Q4W5A9|Q9C0E6	Silent	SNP	ENST00000274031.3	37	CCDS3748.1																																																																																					0.582	SETD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257236.1		NM_030648	
FAT2	2196	mdanderson.org	37	5	150923405	150923405	+	Missense_Mutation	SNP	A	A	T	rs6892335	byFrequency	TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr5:150923405A>T	ENST00000261800.5	-	9	7295	c.7283T>A	c.(7282-7284)tTc>tAc	p.F2428Y		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2428	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.		F -> S (in dbSNP:rs6892335).		epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGTTAATGAAGAAGTGCCT	0.468																																					p.F2428Y													.	.			0			c.T7283A												54.0	51.0	52.0					5																	150923405		2203	4300	6503	SO:0001583	missense	2196	exon9			TTAATGAAGAAGT	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.7283T>A	5.37:g.150923405A>T	ENSP00000261800:p.Phe2428Tyr		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	63	0.03	2	NM_001447	0		0	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	9.354	1.066175	0.20067	.	.	ENSG00000086570	ENST00000261800	T	0.51071	0.72	5.58	4.7	0.59300	Cadherin (4);Cadherin-like (1);	0.181155	0.38605	N	0.001626	T	0.23014	0.0556	N	0.03177	-0.4	0.09310	N	0.999999	B	0.12013	0.005	B	0.08055	0.003	T	0.13415	-1.0510	10	0.25106	T	0.35	.	10.0339	0.42118	0.2089:0.0:0.7911:0.0	.	2428	Q9NYQ8	FAT2_HUMAN	Y	2428	ENSP00000261800:F2428Y	ENSP00000261800:F2428Y	F	-	2	0	FAT2	150903598	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.327000	0.43858	1.375000	0.46248	-0.215000	0.12644	TTC			0.468	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252434.1		NM_001447	
FOXF2	2295	broad.mit.edu	37	6	1390978	1390980	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	CAC	CAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr6:1390978_1390980delCAC	ENST00000259806.1	+	1	910_912	c.796_798delCAC	c.(796-798)cacdel	p.H272del		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	272	Poly-His.				embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CGCGCACCCTcaccaccaccacc	0.768																																					p.266_266del													.	FOXF2	28		0			c.796_798del									14,1482		3,8,737						-5.5	0.6			2	53,3199		10,33,1583	no	coding	FOXF2	NM_001452.1		13,41,2320	A1A1,A1R,RR		1.6298,0.9358,1.4111				67,4681				SO:0001651	inframe_deletion	2295	exon1			CACCCTCACCACC	U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"""Forkhead boxes"""	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.796_798delCAC	6.37:g.1390987_1390989delCAC	ENSP00000259806:p.His272del		Somatic	8	0	0		WXS	Illumina HiSeq	Phase_I	6	0.33	2	NM_001452	0		0	Q5TGJ1|Q9UQ85	In_Frame_Del	DEL	ENST00000259806.1	37	CCDS4472.1																																																																																					0.768	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043558.1			
GPANK1	7918	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	31631709	31631709	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr6:31631709G>A	ENST00000375906.1	-	3	1231	c.547C>T	c.(547-549)Ctc>Ttc	p.L183F	CSNK2B_ENST00000375882.2_5'Flank|GPANK1_ENST00000375896.4_Missense_Mutation_p.L183F|GPANK1_ENST00000375895.2_Missense_Mutation_p.L183F|CSNK2B_ENST00000375866.2_5'Flank|CSNK2B_ENST00000375885.4_5'Flank|GPANK1_ENST00000375893.2_Missense_Mutation_p.L183F|CSNK2B-LY6G5B-1181_ENST00000375880.2_5'Flank|Y_RNA_ENST00000364337.1_RNA|GPANK1_ENST00000375900.4_Missense_Mutation_p.L183F|CSNK2B_ENST00000375865.2_5'Flank	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	183							nucleic acid binding (GO:0003676)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						TCTTCAGCGAGCTGAGCCGCA	0.637																																					p.L183F													.	.			0			c.C547T												50.0	52.0	51.0					6																	31631709		2203	4300	6503	SO:0001583	missense	7918	exon3			CAGCGAGCTGAGC		CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"""Ankyrin repeat domain containing"", ""G patch domain containing"""	13920	protein-coding gene	gene with protein product	"""G patch domain containing 10"", ""ankyrin repeat domain 59"""	142610	"""HLA-B associated transcript 4"""	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.547C>T	6.37:g.31631709G>A	ENSP00000365071:p.Leu183Phe		Somatic	71	0	0		WXS	Illumina HiSeq	.	54	0.46	25	NM_001199238	90	0.43	39	A6NG25|B0UXA2|Q5SQ49	Missense_Mutation	SNP	ENST00000375906.1	37	CCDS4711.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000087	0.74818	.	.	ENSG00000204438	ENST00000375906;ENST00000375896;ENST00000375893;ENST00000375895;ENST00000375900;ENST00000440842	T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22	5.25	2.53	0.30540	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000005	T	0.32823	0.0842	L	0.45137	1.4	0.51233	D	0.999914	D	0.89917	1.0	D	0.80764	0.994	T	0.10042	-1.0647	10	0.46703	T	0.11	-7.9403	7.6853	0.28536	0.3255:0.0:0.6745:0.0	.	183	O95872	GPAN1_HUMAN	F	183	ENSP00000365071:L183F;ENSP00000365060:L183F;ENSP00000365057:L183F;ENSP00000365059:L183F;ENSP00000365065:L183F	ENSP00000365057:L183F	L	-	1	0	GPANK1	31739688	1.000000	0.71417	0.998000	0.56505	0.879000	0.50718	1.312000	0.33574	0.235000	0.21160	-0.258000	0.10820	CTC			0.637	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000144445.2		NM_033177	
CSNK2B	1460	mdanderson.org	37	6	31635645	31635645	+	Splice_Site	SNP	G	G	T			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr6:31635645G>T	ENST00000375882.2	+	3	229	c.73G>T	c.(73-75)Gtg>Ttg	p.V25L	GPANK1_ENST00000375896.4_5'Flank|LY6G5B_ENST00000409525.1_5'Flank|GPANK1_ENST00000375895.2_5'Flank|CSNK2B_ENST00000375866.2_Splice_Site_p.V25L|CSNK2B_ENST00000375885.4_Splice_Site_p.V44L|LY6G5B_ENST00000375864.4_5'Flank|GPANK1_ENST00000375893.2_5'Flank|CSNK2B-LY6G5B-1181_ENST00000375880.2_Splice_Site_p.V25L|GPANK1_ENST00000375900.4_5'Flank|GPANK1_ENST00000375906.1_5'Flank|CSNK2B_ENST00000375865.2_Splice_Site_p.V25L	NM_001282385.1|NM_001320.5	NP_001269314.1|NP_001311.3	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	25					adiponectin-activated signaling pathway (GO:0033211)|axon guidance (GO:0007411)|cellular protein complex assembly (GO:0043623)|endothelial tube morphogenesis (GO:0061154)|mitotic cell cycle (GO:0000278)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|protein phosphorylation (GO:0006468)|regulation of DNA binding (GO:0051101)|regulation of protein kinase activity (GO:0045859)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein kinase CK2 complex (GO:0005956)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase regulator activity (GO:0019887)|receptor binding (GO:0005102)|transcription factor binding (GO:0008134)			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						GTCCTGACAGGTGGATGAAGA	0.458																																					p.V25L													.	.			0			c.G73T												104.0	93.0	97.0					6																	31635645		2203	4300	6503	SO:0001630	splice_region_variant	1460	exon3			TGACAGGTGGATG	M30448	CCDS4712.1	6p21.33	2013-01-17			ENSG00000204435	ENSG00000204435	2.7.11.1		2460	protein-coding gene	gene with protein product		115441				2276748, 9503014	Standard	NM_001320		Approved		uc003nvr.1	P67870	OTTHUMG00000177888	ENST00000375882.2:c.73-1G>T	6.37:g.31635645G>T			Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	44	0.07	3	NM_001320	366	0.00	0	B0UXA9|P07312|P13862|Q4VX47	Missense_Mutation	SNP	ENST00000375882.2	37	CCDS4712.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171763	0.78452	.	.	ENSG00000204435	ENST00000375885;ENST00000375882;ENST00000375880;ENST00000375865;ENST00000375866	.	.	.	5.64	3.86	0.44501	Casein kinase II, regulatory subunit, alpha-helical (1);	0.134719	0.49916	D	0.000137	T	0.76969	0.4062	H	0.95504	3.68	0.58432	D	0.999996	D;D;D	0.67145	0.996;0.995;0.996	D;D;D	0.63597	0.916;0.909;0.916	T	0.82912	-0.0222	8	0.87932	D	0	-13.8306	10.2447	0.43334	0.161:0.0:0.839:0.0	.	25;25;25	B0UXA9;Q5SRQ3;P67870	.;.;CSK2B_HUMAN	L	44;25;25;25;25	.	ENSP00000365025:V25L	V	+	1	0	CSNK2B	31743624	1.000000	0.71417	0.995000	0.50966	0.663000	0.39108	9.013000	0.93629	0.740000	0.32651	0.655000	0.94253	GTG			0.458	CSNK2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076063.8		NM_001320	Missense_Mutation
UTRN	7402	broad.mit.edu;mdanderson.org	37	6	144869950	144869950	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr6:144869950G>T	ENST00000367545.3	+	46	6770	c.6770G>T	c.(6769-6771)gGg>gTg	p.G2257V		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2257					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GTCACTGTTGGGGATGTAGAA	0.428																																					p.G2257V													.	UTRN	327		0			c.G6770T												98.0	92.0	94.0					6																	144869950		2203	4300	6503	SO:0001583	missense	7402	exon46			CTGTTGGGGATGT	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.6770G>T	6.37:g.144869950G>T	ENSP00000356515:p.Gly2257Val		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	58	0.07	4	NM_007124	0		0	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781588	0.90282	.	.	ENSG00000152818	ENST00000367545	T	0.50548	0.74	5.38	5.38	0.77491	.	0.000000	0.53938	D	0.000052	T	0.65811	0.2727	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.68872	-0.5294	10	0.87932	D	0	.	19.5077	0.95125	0.0:0.0:1.0:0.0	.	2257	P46939	UTRO_HUMAN	V	2257	ENSP00000356515:G2257V	ENSP00000356515:G2257V	G	+	2	0	UTRN	144911643	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	8.923000	0.92808	2.683000	0.91414	0.655000	0.94253	GGG			0.428	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042551.1			
TNRC18	84629	mdanderson.org	37	7	5427362	5427362	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr7:5427362C>T	ENST00000430969.1	-	5	2441	c.2093G>A	c.(2092-2094)gGc>gAc	p.G698D	TNRC18_ENST00000399537.4_Missense_Mutation_p.G698D	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	698							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCCCAGCCGGCCACTGCCGCC	0.677																																					p.G698D													.	.			0			c.G2093A												28.0	35.0	33.0					7																	5427362		1895	4011	5906	SO:0001583	missense	84629	exon5			AGCCGGCCACTGC	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.2093G>A	7.37:g.5427362C>T	ENSP00000395538:p.Gly698Asp		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	26	0.12	3	NM_001080495	16	0.00	0	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789667	0.31685	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000413081	T;T	0.11169	2.8;2.8	3.47	3.47	0.39725	.	.	.	.	.	T	0.06142	0.0159	N	0.08118	0	0.23271	N	0.998004	B	0.27498	0.18	B	0.25405	0.06	T	0.31586	-0.9938	9	0.39692	T	0.17	.	10.7431	0.46164	0.0:0.8069:0.1931:0.0	.	698	O15417	TNC18_HUMAN	D	698;698;100	ENSP00000382452:G698D;ENSP00000395538:G698D	ENSP00000382452:G698D	G	-	2	0	TNRC18	5393888	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.801000	0.47908	1.914000	0.55421	0.561000	0.74099	GGC			0.677	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding					
ITGB8	3696	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	20406739	20406739	+	Silent	SNP	T	T	G			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr7:20406739T>G	ENST00000222573.4	+	3	1002	c.318T>G	c.(316-318)gtT>gtG	p.V106V	ITGB8_ENST00000537992.1_5'UTR	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	106					cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CTGTGCATGTTATAATACCCA	0.373																																					p.V106V													.	.			0			c.T318G												118.0	119.0	118.0					7																	20406739		2203	4300	6503	SO:0001819	synonymous_variant	3696	exon3			GCATGTTATAATA		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.318T>G	7.37:g.20406739T>G			Somatic	77	0	0		WXS	Illumina HiSeq	.	119	0.24	29	NM_002214	5	0.40	2	A4D133|B4DHD4	Silent	SNP	ENST00000222573.4	37	CCDS5370.1																																																																																					0.373	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000059915.3		NM_002214	
SKAP2	8935	broad.mit.edu	37	7	26766623	26766626	+	Splice_Site	DEL	TGTC	TGTC	-			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	TGTC	TGTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr7:26766623_26766626delTGTC	ENST00000345317.2	-	7	783_785	c.470_472delGACA	c.(469-474)ggacaa>gaa	p.GQ157fs	SKAP2_ENST00000489977.1_5'UTR|SKAP2_ENST00000539623.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	157	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell activation (GO:0042113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						TTCTGTTGTTTGTCTGTTGAAGAT	0.294																																					p.157_158del													SKAP2,caecum,carcinoma,+1,1	SKAP2	40	1	0			c.470_472del																																									SO:0001630	splice_region_variant	8935	exon7			GTTGTTTGTCTGT		CCDS5400.1	7p15.2	2013-01-10	2006-09-28	2006-09-28	ENSG00000005020	ENSG00000005020		"""Pleckstrin homology (PH) domain containing"""	15687	protein-coding gene	gene with protein product		605215	"""src family associated phosphoprotein 2"""	SCAP2		9837776, 9755858	Standard	NM_003930		Approved	RA70, SKAP-HOM, SKAP55R, SAPS	uc003syc.3	O75563	OTTHUMG00000023495	ENST00000345317.2:c.470-1GACA>-	7.37:g.26766623_26766626delTGTC			Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	103	0.07	7	NM_003930	0		0	A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8	Splice_Site	DEL	ENST00000345317.2	37	CCDS5400.1																																																																																					0.294	SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000214128.1			Frame_Shift_Del
TRGC2	6967	broad.mit.edu	37	7	38284886	38284887	+	RNA	DEL	GT	GT	-	rs377514954|rs73692143	byFrequency	TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	GT	GT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr7:38284886_38284887delGT	ENST00000436911.2	-	0	330							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										ATTTGTCAAGgtgtgtgtgtgt	0.391																																					.													.	.			0			.																																											0	.			GTCAAGGTGTGTG	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38284896_38284897delGT			Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	6	0.33	2	.	0		0		RNA	DEL	ENST00000436911.2	37																																																																																						0.391	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene		OTTHUMT00000338821.2		NG_001336	
PPIA	5478	mdanderson.org	37	7	44839373	44839373	+	Missense_Mutation	SNP	T	T	A			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr7:44839373T>A	ENST00000468812.1	+	4	307	c.262T>A	c.(262-264)Ttc>Atc	p.F88I	PPIA_ENST00000355968.6_Missense_Mutation_p.F28I|PPIA_ENST00000480603.1_3'UTR|PPIA_ENST00000451562.1_Missense_Mutation_p.F88I|PPIA_ENST00000489459.1_Missense_Mutation_p.F28I	NM_021130.3	NP_066953.1	P62937	PPIA_HUMAN	peptidylprolyl isomerase A (cyclophilin A)	88	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				blood coagulation (GO:0007596)|entry into host cell (GO:0030260)|establishment of integrated proviral latency (GO:0075713)|leukocyte migration (GO:0050900)|lipid particle organization (GO:0034389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of viral genome replication (GO:0045069)|RNA-dependent DNA replication (GO:0006278)|uncoating of virus (GO:0019061)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral release from host cell (GO:0019076)|virion assembly (GO:0019068)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Cyclosporine(DB00091)|L-Proline(DB00172)	AGATGAGAACTTCATCCTAAA	0.463																																					p.F88I	Pancreas(95;605 727 734 1731 12572 23104 24406 38694 39103 44805)												.	.			0			c.T262A												113.0	107.0	109.0					7																	44839373		2203	4298	6501	SO:0001583	missense	5478	exon4			GAGAACTTCATCC	X52851	CCDS5494.1, CCDS75592.1	7p13	2010-03-23			ENSG00000196262	ENSG00000196262	5.2.1.8		9253	protein-coding gene	gene with protein product		123840				1989998, 2197089	Standard	XM_005249791		Approved	CYPA	uc003tlw.3	P62937	OTTHUMG00000023687	ENST00000468812.1:c.262T>A	7.37:g.44839373T>A	ENSP00000419425:p.Phe88Ile		Somatic	15	0	0		WXS	Illumina HiSeq	Phase_I	21	0.14	3	NM_021130	5067	0.00	2	A8K220|P05092|Q3KQW3|Q567Q0|Q6IBU5|Q96IX3|Q9BRU4|Q9BTY9|Q9UC61	Missense_Mutation	SNP	ENST00000468812.1	37	CCDS5494.1	.	.	.	.	.	.	.	.	.	.	T	19.67	3.871442	0.72065	.	.	ENSG00000196262	ENST00000451562;ENST00000468812;ENST00000489459;ENST00000355968;ENST00000244636	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.24	4.08	0.47627	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.000000	0.85682	U	0.000000	T	0.64416	0.2596	H	0.95982	3.75	0.47659	D	0.999486	B	0.28900	0.227	B	0.36244	0.22	T	0.67624	-0.5623	10	0.72032	D	0.01	.	10.5716	0.45204	0.0:0.0767:0.0:0.9233	.	88	P62937	PPIA_HUMAN	I	88;88;28;28;28	ENSP00000405975:F88I;ENSP00000419425:F88I;ENSP00000427976:F28I;ENSP00000430817:F28I	ENSP00000442606:F28I	F	+	1	0	PPIA	44805898	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	7.842000	0.86851	0.836000	0.34901	0.460000	0.39030	TTC			0.463	PPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251293.1		NM_021130	
POR	5447	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	75615073	75615073	+	Missense_Mutation	SNP	C	C	G			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr7:75615073C>G	ENST00000461988.1	+	13	1680	c.1575C>G	c.(1573-1575)ttC>ttG	p.F525L	POR_ENST00000394893.1_Missense_Mutation_p.F525L|POR_ENST00000439269.1_Missense_Mutation_p.F263L|POR_ENST00000545601.1_Missense_Mutation_p.F333L|POR_ENST00000450476.1_Missense_Mutation_p.F424L|TMEM120A_ENST00000338761.4_RNA|TMEM120A_ENST00000493111.2_RNA|POR_ENST00000419840.1_Intron	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	522					carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	GCCTGCCCTTCAAGGCCACCA	0.687																																					p.F525L													.	.			0			c.C1575G												17.0	21.0	20.0					7																	75615073		2050	4138	6188	SO:0001583	missense	5447	exon13			GCCCTTCAAGGCC	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000461988.1:c.1575C>G	7.37:g.75615073C>G	ENSP00000419970:p.Phe525Leu		Somatic	82	0	0		WXS	Illumina HiSeq	.	86	0.16	14	NM_000941	133	0.24	32	Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Missense_Mutation	SNP	ENST00000461988.1	37	CCDS5579.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.91|13.91	2.377962|2.377962	0.42105|0.42105	.|.	.|.	ENSG00000127948|ENSG00000127948	ENST00000461988;ENST00000394893;ENST00000545601;ENST00000450476;ENST00000439269|ENST00000447222	T;T;T;T;T|.	0.75938|.	-0.98;-0.98;-0.98;-0.98;-0.98|.	4.5|4.5	4.5|4.5	0.54988|0.54988	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70736|0.70736	0.3258|0.3258	L|L	0.58669|0.58669	1.825|1.825	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.15473|.	0.002;0.013;0.004;0.001|.	B;B;B;B|.	0.08055|.	0.0;0.003;0.002;0.001|.	T|T	0.69643|0.69643	-0.5090|-0.5090	10|5	0.10902|.	T|.	0.67|.	-16.9787|-16.9787	16.7187|16.7187	0.85404|0.85404	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	522;424;333;531|.	P16435;E7EVY7;F5H468;Q59ED7|.	NCPR_HUMAN;.;.;.|.	L|E	525;525;333;424;263|576	ENSP00000419970:F525L;ENSP00000378355:F525L;ENSP00000446149:F333L;ENSP00000416572:F424L;ENSP00000412490:F263L|.	ENSP00000378355:F525L|.	F|Q	+|+	3|1	2|0	POR|POR	75453009|75453009	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	5.735000|5.735000	0.68587|0.68587	2.489000|2.489000	0.83994|0.83994	0.561000|0.561000	0.74099|0.74099	TTC|CAA			0.687	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252796.7		NM_000941	
PCLO	27445	broad.mit.edu	37	7	82784471	82784471	+	Missense_Mutation	SNP	A	A	G	rs199515717		TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr7:82784471A>G	ENST00000333891.9	-	2	1823	c.1486T>C	c.(1486-1488)Tca>Cca	p.S496P	PCLO_ENST00000423517.2_Missense_Mutation_p.S496P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S496P(6)|p.?(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTTTGCTGAGCCAGGCTGT	0.607																																					p.S496P													Q9Y6V0-3,NS,carcinoma,0,15	PCLO	1506	15	9	Substitution - Missense(6)|Unknown(3)	kidney(6)|prostate(3)	c.T1486C							A	PRO/SER,PRO/SER	0,3888		0,0,1944	89.0	98.0	95.0		1486,1486	-0.1	0.0	7		95	1,8267		0,1,4133	no	missense,missense	PCLO	NM_014510.2,NM_033026.5	74,74	0,1,6077	GG,GA,AA		0.0121,0.0,0.0082	benign,benign	496/4936,496/5143	82784471	1,12155	1944	4134	6078	SO:0001583	missense	27445	exon2			TTGCTGAGCCAGG	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1486T>C	7.37:g.82784471A>G	ENSP00000334319:p.Ser496Pro		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	60	0.07	4	NM_014510	0		0		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	0.210	-1.037056	0.02013	0.0	1.21E-4	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.15372	2.43;2.44	4.64	-0.0778	0.13717	.	.	.	.	.	T	0.04679	0.0127	N	0.00538	-1.39	0.22066	N	0.999381	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37009	-0.9724	9	0.87932	D	0	.	7.1447	0.25577	0.2775:0.116:0.6065:0.0	.	496;496	Q9Y6V0-5;Q9Y6V0-6	.;.	P	496	ENSP00000334319:S496P;ENSP00000388393:S496P	ENSP00000334319:S496P	S	-	1	0	PCLO	82622407	0.659000	0.27411	0.005000	0.12908	0.207000	0.24258	2.928000	0.48908	0.094000	0.17404	-0.379000	0.06801	TCA			0.607	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000337368.5		NM_014510	
PUS7	54517	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	105105799	105105799	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr7:105105799G>A	ENST00000356362.2	-	13	1802	c.1588C>T	c.(1588-1590)Ccc>Tcc	p.P530S	PUS7_ENST00000469408.1_Missense_Mutation_p.P530S	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	530	TRUD. {ECO:0000255|PROSITE- ProRule:PRU00342}.				pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.P530S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						CCAGGCAAGGGCATTACCACA	0.338																																					p.P530S	Colon(138;2387 3051 17860)												PUS7,NS,carcinoma,+2,2	PUS7	2	2	1	Substitution - Missense(1)	large_intestine(1)	c.C1588T												121.0	110.0	114.0					7																	105105799		2203	4300	6503	SO:0001583	missense	54517	exon13			GCAAGGGCATTAC	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.1588C>T	7.37:g.105105799G>A	ENSP00000348722:p.Pro530Ser		Somatic	61	0	0		WXS	Illumina HiSeq	.	87	0.20	17	NM_019042	7	0.57	4	Q75MG4|Q9NX19	Missense_Mutation	SNP	ENST00000356362.2	37	CCDS34725.1	.	.	.	.	.	.	.	.	.	.	g	27.3	4.820353	0.90873	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	T;T	0.57907	0.37;0.37	5.91	5.91	0.95273	Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase, TruD, insertion domain (1);	0.000000	0.85682	D	0.000000	T	0.78610	0.4310	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81204	-0.1039	10	0.66056	D	0.02	-21.9866	19.2743	0.94026	0.0:0.0:1.0:0.0	.	530;530	B3KY42;Q96PZ0	.;PUS7_HUMAN	S	530	ENSP00000348722:P530S;ENSP00000417402:P530S	ENSP00000348722:P530S	P	-	1	0	PUS7	104893035	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	9.462000	0.97649	2.785000	0.95823	0.637000	0.83480	CCC			0.338	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000348681.1		NM_019042	
CDHR3	222256	broad.mit.edu	37	7	105641932	105641932	+	Silent	SNP	G	G	T			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr7:105641932G>T	ENST00000317716.9	+	7	818	c.738G>T	c.(736-738)ctG>ctT	p.L246L	CDHR3_ENST00000542731.1_Silent_p.L246L|CDHR3_ENST00000478080.1_Silent_p.L158L|CDHR3_ENST00000343407.5_5'UTR|CDHR3_ENST00000541203.1_Missense_Mutation_p.W147L|CDHR3_ENST00000470188.1_Intron	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	246	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						ACACAGTCCTGGAGGAACTGA	0.517																																					p.L246L													.	CDHR3	153		0			c.G738T												142.0	139.0	140.0					7																	105641932		1992	4156	6148	SO:0001819	synonymous_variant	222256	exon7			AGTCCTGGAGGAA	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.738G>T	7.37:g.105641932G>T			Somatic	200	0	0		WXS	Illumina HiSeq	Phase_I	244	0.02	5	NM_152750	0		0	Q8TCI7	Missense_Mutation	SNP	ENST00000317716.9	37	CCDS47684.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.653845	0.29425	.	.	ENSG00000128536	ENST00000541203	T	0.33654	1.4	5.49	-9.92	0.00455	.	.	.	.	.	T	0.20251	0.0487	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34601	-0.9822	5	.	.	.	-0.0711	2.1744	0.03858	0.4302:0.3015:0.1638:0.1045	.	.	.	.	L	147	ENSP00000443733:W147L	.	W	+	2	0	CDHR3	105429168	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.106000	0.00602	-2.256000	0.00695	-0.878000	0.02970	TGG			0.517	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000349025.2		NM_152750	
CPA2	1358	hgsc.bcm.edu;broad.mit.edu	37	7	129919488	129919488	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr7:129919488G>A	ENST00000222481.4	+	9	1028	c.973G>A	c.(973-975)Gac>Aac	p.D325N		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	325					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CAAGTTAGATGACTTTGATGA	0.428																																					p.D325N													.	.			0			c.G973A												86.0	75.0	79.0					7																	129919488		2203	4300	6503	SO:0001583	missense	1358	exon9			TTAGATGACTTTG	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.973G>A	7.37:g.129919488G>A	ENSP00000222481:p.Asp325Asn		Somatic	115	0	0		WXS	Illumina HiSeq	.	150	0.04	6	NM_001869	3	0.00	0	A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Missense_Mutation	SNP	ENST00000222481.4	37	CCDS5817.2	.	.	.	.	.	.	.	.	.	.	G	3.616	-0.078561	0.07141	.	.	ENSG00000158516	ENST00000222481	T	0.03524	3.9	6.17	-10.6	0.00265	Peptidase M14, carboxypeptidase A (2);	0.899280	0.09656	N	0.773024	T	0.01976	0.0062	N	0.21142	0.635	0.09310	N	1	B	0.11235	0.004	B	0.22880	0.042	T	0.50197	-0.8856	10	0.05833	T	0.94	.	11.951	0.52954	0.1685:0.3632:0.4683:0.0	.	325	P48052	CBPA2_HUMAN	N	325	ENSP00000222481:D325N	ENSP00000222481:D325N	D	+	1	0	CPA2	129706724	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.108000	0.10857	-1.412000	0.02030	-3.461000	0.00035	GAC			0.428	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347124.2		NM_001869	
KMT2C	58508	broad.mit.edu	37	7	151921174	151921174	+	Silent	SNP	G	G	A			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr7:151921174G>A	ENST00000262189.6	-	20	3467	c.3249C>T	c.(3247-3249)agC>agT	p.S1083S	KMT2C_ENST00000355193.2_Silent_p.S1083S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1083					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S1083S(2)									AGGAAGATAAGCTTGCACAAG	0.408																																					p.S1083S													MLL3_ENST00000355193,NS,carcinoma,0,2	MLL3	1564	2	2	Substitution - coding silent(2)	endometrium(2)	c.C3249T												56.0	51.0	53.0					7																	151921174		2203	4299	6502	SO:0001819	synonymous_variant	58508	exon20			AGATAAGCTTGCA	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3249C>T	7.37:g.151921174G>A			Somatic	164	0	0		WXS	Illumina HiSeq	Phase_I	226	0.03	6	NM_170606	1	0.00	0	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1																																																																																					0.408	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000318887.3			
PABPC1	26986	hgsc.bcm.edu	37	8	101721953	101721953	+	Missense_Mutation	SNP	T	T	A	rs370158190		TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr8:101721953T>A	ENST00000318607.5	-	8	2107	c.979A>T	c.(979-981)Atg>Ttg	p.M327L	AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000522387.1_Missense_Mutation_p.M295L|PABPC1_ENST00000519004.1_Missense_Mutation_p.M282L|PABPC1_ENST00000519596.1_5'UTR	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	327	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CCACCCTCCATCATAACCTAT	0.368																																					p.M327L													PABPC1,NS,carcinoma,+2,1	PABPC1	2	1	0			c.A979T												47.0	44.0	45.0					8																	101721953		2203	4300	6503	SO:0001583	missense	26986	exon8			CCTCCATCATAAC	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.979A>T	8.37:g.101721953T>A	ENSP00000313007:p.Met327Leu		Somatic	64	0.015625	1		WXS	Illumina HiSeq	.	74	0.08	6	NM_002568	289	0.00	0	Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	12.64|12.64|12.64	1.999189|1.999189|1.999189	0.35226|0.35226|0.35226	.|.|.	.|.|.	ENSG00000070756|ENSG00000070756|ENSG00000070756	ENST00000519596|ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387|ENST00000519100	.|T;T;T|.	.|0.05319|.	.|3.46;3.46;3.46|.	4.92|4.92|4.92	4.92|4.92|4.92	0.64577|0.64577|0.64577	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|.	0.35393|0.35393|.	0.0930|0.0930|.	N|N|N	0.04203|0.04203|0.04203	-0.255|-0.255|-0.255	0.51767|0.51767|0.51767	D|D|D	0.999939|0.999939|0.999939	.|B;B;B|.	.|0.06786|.	.|0.0;0.001;0.001|.	.|B;B;B|.	.|0.12156|.	.|0.004;0.007;0.007|.	T|T|.	0.27971|0.27971|.	-1.0058|-1.0058|.	5|10|.	.|0.16420|.	.|T|.	.|0.52|.	.|.|.	14.8676|14.8676|14.8676	0.70427|0.70427|0.70427	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	.|295;327;327|.	.|E7ERJ7;B3KT93;P11940|.	.|.;.;PABP1_HUMAN|.	V|L|C	159|327;327;282;295|195	.|ENSP00000313007:M327L;ENSP00000429594:M282L;ENSP00000429395:M295L|.	.|ENSP00000313007:M327L|.	D|M|X	-|-|-	2|1|3	0|0|0	PABPC1|PABPC1|PABPC1	101791129|101791129|101791129	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.992000|0.992000|0.992000	0.81027|0.81027|0.81027	4.961000|4.961000|4.961000	0.63681|0.63681|0.63681	1.965000|1.965000|1.965000	0.57142|0.57142|0.57142	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAT|ATG|TGA			0.368	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000380217.1		NM_002568	
MLLT3	4300	broad.mit.edu	37	9	20414374	20414376	+	In_Frame_Del	DEL	CTA	CTA	-	rs1761445|rs373338988	byFrequency	TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	CTA	CTA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr9:20414374_20414376delCTA	ENST00000380338.4	-	5	754_756	c.468_470delTAG	c.(466-471)agtagc>agc	p.156_157SS>S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_In_Frame_Del_p.153_154SS>S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	156	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)				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)		gctgctgctgctactgctgctgc	0.527			T	MLL	ALL																																p.156_157del				Dom	yes		9	9p22	4300	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""		L	MLLT3,NS,carcinoma,+1,4	MLLT3	125	4	0			c.468_470del									376,2954		71,234,1360						-4.5	0.2			12	799,6049		122,555,2747	no	coding	MLLT3	NM_004529.2		193,789,4107	A1A1,A1R,RR		11.6676,11.2913,11.5445				1175,9003				SO:0001651	inframe_deletion	4300	exon5			CTGCTGCTACTGC	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.468_470delTAG	9.37:g.20414374_20414376delCTA	ENSP00000369695:p.Ser190del		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	24	0.38	9	NM_004529	0		0	B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	In_Frame_Del	DEL	ENST00000380338.4	37	CCDS6494.1																																																																																					0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000051872.1		NM_004529	
GAS1	2619	mdanderson.org	37	9	89561103	89561103	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chr9:89561103G>A	ENST00000298743.7	-	1	1001	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	RP11-276H19.1_ENST00000415801.1_lincRNA	NM_002048.2	NP_002039.2	P54826	GAS1_HUMAN	growth arrest-specific 1	198					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cerebellum morphogenesis (GO:0021587)|developmental growth (GO:0048589)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|eye morphogenesis (GO:0048592)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein processing (GO:0010955)|negative regulation of smoothened signaling pathway (GO:0045879)|odontogenesis (GO:0042476)|outer ear morphogenesis (GO:0042473)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|programmed cell death (GO:0012501)|regulation of apoptotic process (GO:0042981)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|regulation of smoothened signaling pathway (GO:0008589)	anchored component of plasma membrane (GO:0046658)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|lung(2)|skin(1)	4						TCCGTGCAGCGCAGCCCGTTG	0.687																																					p.R198C													.	.			0			c.C592T												21.0	19.0	20.0					9																	89561103		2203	4299	6502	SO:0001583	missense	2619	exon1			TGCAGCGCAGCCC		CCDS6674.1	9q21.3-q22	2008-07-21			ENSG00000180447	ENSG00000180447			4165	protein-coding gene	gene with protein product	"""Growth arrest-specific gene-1"""	139185				8307588	Standard	NM_002048		Approved		uc004aox.4	P54826	OTTHUMG00000020141	ENST00000298743.7:c.592C>T	9.37:g.89561103G>A	ENSP00000298743:p.Arg198Cys		Somatic	16	0	0		WXS	Illumina HiSeq	Phase_I	29	0.10	3	NM_002048	0		0	B9EGM4|Q6B086	Missense_Mutation	SNP	ENST00000298743.7	37	CCDS6674.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795245	0.31777	.	.	ENSG00000180447	ENST00000298743	T	0.65364	-0.15	4.34	2.33	0.28932	GDNF/GAS1 (2);	0.148892	0.35207	U	0.003370	T	0.50257	0.1605	L	0.46157	1.445	0.58432	D	0.999992	P	0.42584	0.784	B	0.37387	0.248	T	0.53229	-0.8468	10	0.87932	D	0	-7.387	8.8374	0.35119	0.085:0.1504:0.7645:0.0	.	198	P54826	GAS1_HUMAN	C	198	ENSP00000298743:R198C	ENSP00000298743:R198C	R	-	1	0	GAS1	88750923	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	2.122000	0.41987	0.799000	0.34018	-0.266000	0.10368	CGC			0.687	GAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052928.1		NM_002048	
RBM10	8241	broad.mit.edu;mdanderson.org	37	X	47030579	47030579	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chrX:47030579G>T	ENST00000377604.3	+	4	1096	c.354G>T	c.(352-354)gaG>gaT	p.E118D	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	118	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggaggaggaggatgagg	0.662																																					p.E183D	Melanoma(171;120 2705 19495 39241)												.	RBM10	117		0			c.G549T												20.0	19.0	19.0					X																	47030579		2201	4293	6494	SO:0001583	missense	8241	exon4			GGAGGAGGAGGAT	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.354G>T	X.37:g.47030579G>T	ENSP00000366829:p.Glu118Asp		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	56	0.07	4	NM_001204468	1	0.00	0	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246384	0.22796	.	.	ENSG00000182872	ENST00000377604	T	0.10763	2.84	3.64	-1.2	0.09554	Nucleotide-binding, alpha-beta plait (1);	1.051780	0.07609	N	0.925008	T	0.05593	0.0147	N	0.08118	0	0.58432	D	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.41998	-0.9477	10	0.18276	T	0.48	-0.0296	10.6407	0.45592	0.0:0.0:0.2596:0.7404	.	183;118;118	Q7Z3D7;P98175-2;P98175	.;.;RBM10_HUMAN	D	118	ENSP00000366829:E118D	ENSP00000366829:E118D	E	+	3	2	RBM10	46915523	0.660000	0.27420	0.676000	0.29932	0.897000	0.52465	-0.676000	0.05221	-0.561000	0.06094	-0.390000	0.06520	GAG			0.662	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056381.1		NM_005676	
RPS6KA6	27330	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	83361424	83361424	+	Silent	SNP	A	A	G			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chrX:83361424A>G	ENST00000262752.2	-	15	1321	c.1314T>C	c.(1312-1314)tcT>tcC	p.S438S	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Silent_p.S438S	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	438	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GCTTGCAAACAGAGTAGGAGC	0.343																																					p.S438S													.	.			0			c.T1314C												122.0	90.0	101.0					X																	83361424		2203	4299	6502	SO:0001819	synonymous_variant	27330	exon15			GCAAACAGAGTAG	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1314T>C	X.37:g.83361424A>G			Somatic	97	0	0		WXS	Illumina HiSeq	.	118	0.46	54	NM_014496	0		0	B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Silent	SNP	ENST00000262752.2	37	CCDS14451.1																																																																																					0.343	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057372.1		NM_014496	
PDZD4	57595	mdanderson.org	37	X	153071022	153071022	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AALF-01A-11D-A42Y-10	TCGA-2G-AALF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e5fae9-a016-48cc-9110-92269f6ad3c1	e8b2c448-8d20-49cb-9252-ce55a9ffde6c	g.chrX:153071022C>T	ENST00000164640.4	-	6	780	c.589G>A	c.(589-591)Gcc>Acc	p.A197T	PDZD4_ENST00000544474.1_Missense_Mutation_p.A88T|PDZD4_ENST00000393758.2_Missense_Mutation_p.A122T|PDZD4_ENST00000475140.1_5'UTR	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	197	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCAGGATGGCCACCGCCTCT	0.622																																					p.A197T													.	.			0			c.G589A												89.0	78.0	82.0					X																	153071022		2202	4300	6502	SO:0001583	missense	57595	exon6			GGATGGCCACCGC	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.589G>A	X.37:g.153071022C>T	ENSP00000164640:p.Ala197Thr		Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	35	0.09	3	NM_032512	0		0	B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	ENST00000164640.4	37	CCDS14732.1	.	.	.	.	.	.	.	.	.	.	C	35	5.532268	0.96446	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.28454	1.61;1.61;1.61	5.24	5.24	0.73138	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.54111	0.1838	M	0.63169	1.94	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.941;1.0;1.0;1.0	D;P;D;D;D	0.97110	1.0;0.733;0.999;0.999;1.0	T	0.56896	-0.7903	10	0.66056	D	0.02	-30.6201	16.6455	0.85176	0.0:1.0:0.0:0.0	.	88;203;197;122;101	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	T	197;122;101;88	ENSP00000164640:A197T;ENSP00000377355:A122T;ENSP00000442033:A88T	ENSP00000164640:A197T	A	-	1	0	PDZD4	152724216	1.000000	0.71417	0.983000	0.44433	0.965000	0.64279	7.818000	0.86416	2.189000	0.69895	0.529000	0.55759	GCC			0.622	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000061013.3		NM_032512	
