#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
LZTS2	84445	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	10	102762597	102762597	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr10:102762597C>T	ENST00000370220.1	+	1	3365	c.302C>T	c.(301-303)cCc>cTc	p.P101L	LZTS2_ENST00000370223.3_Missense_Mutation_p.P101L					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GAGTCACCCCCCAGCCCAAGC	0.622																																					Esophageal Squamous(8;38 437 13604 19902 37640)	.											0													48.0	51.0	50.0					10																	102762597		2203	4300	6503	SO:0001583	missense	84445			AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.302C>T	10.37:g.102762597C>T	ENSP00000359240:p.Pro101Leu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000370220.1	37	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326461	0.41197	.	.	ENSG00000107816	ENST00000426584;ENST00000370223;ENST00000429732;ENST00000315797;ENST00000370220;ENST00000454422	T;T	0.29397	1.57;1.57	4.78	4.78	0.61160	.	0.575630	0.18935	N	0.127095	T	0.14184	0.0343	N	0.08118	0	0.40738	D	0.982809	B	0.14012	0.009	B	0.06405	0.002	T	0.14309	-1.0477	10	0.21014	T	0.42	-13.9989	7.7296	0.28779	0.0:0.8173:0.0:0.1826	.	101	Q9BRK4	LZTS2_HUMAN	L	101	ENSP00000359243:P101L;ENSP00000359240:P101L	ENSP00000314437:P101L	P	+	2	0	LZTS2	102752587	0.018000	0.18449	0.992000	0.48379	0.934000	0.57294	0.303000	0.19210	2.349000	0.79799	0.561000	0.74099	CCC		0.622	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743	
MUC2	4583	hgsc.bcm.edu	37	11	1092891	1092891	+	Silent	SNP	C	C	A			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr11:1092891C>A	ENST00000441003.2	+	30	4737	c.4710C>A	c.(4708-4710)acC>acA	p.T1570T	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Silent_p.T1571T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)		p.T1571T(1)|p.T1570T(1)		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)	CCACGGTGaccccaaccccaa	0.642																																						.											2	Substitution - coding silent(2)	ovary(2)											116.0	157.0	142.0					11																	1092891		1961	3652	5613	SO:0001819	synonymous_variant	4583			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.4710C>A	11.37:g.1092891C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																					0.642	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
AMPD1	270	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	115220103	115220103	+	Nonsense_Mutation	SNP	G	G	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr1:115220103G>C	ENST00000520113.2	-	10	1371	c.1356C>G	c.(1354-1356)taC>taG	p.Y452*	AMPD1_ENST00000369538.3_Nonsense_Mutation_p.Y448*|AMPD1_ENST00000353928.6_Nonsense_Mutation_p.Y419*			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	452					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CAGCATGCTGGTACTTGGCCT	0.582																																						.											0													85.0	72.0	76.0					1																	115220103		2203	4300	6503	SO:0001587	stop_gained	270			M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1356C>G	1.37:g.115220103G>C	ENSP00000430075:p.Tyr452*	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Nonsense_Mutation	SNP	ENST00000520113.2	37	CCDS876.2	.	.	.	.	.	.	.	.	.	.	G	37	6.308656	0.97462	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	.	.	.	5.85	2.99	0.34606	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.064	10.6982	0.45911	0.2078:0.0:0.7922:0.0	.	.	.	.	X	452;448;419	.	ENSP00000316520:Y419X	Y	-	3	2	AMPD1	115021626	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.502000	0.53332	0.384000	0.24942	-0.254000	0.11334	TAC		0.582	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4		
RHOT2	89941	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	16	721884	721884	+	Missense_Mutation	SNP	G	G	T	rs367726747		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr16:721884G>T	ENST00000315082.4	+	13	1093	c.979G>T	c.(979-981)Gtg>Ttg	p.V327L		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	327	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CCTCTCGCCCGTGGAGCTGCA	0.711																																						.											0													51.0	64.0	60.0					16																	721884		2199	4296	6495	SO:0001583	missense	89941			BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.979G>T	16.37:g.721884G>T	ENSP00000321971:p.Val327Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	ENST00000315082.4	37	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638715	0.29157	.	.	ENSG00000140983	ENST00000315082	T	0.09163	3.01	5.44	-4.54	0.03452	EF-hand-like domain (1);	1.491620	0.03357	N	0.197119	T	0.06234	0.0161	N	0.17474	0.49	0.09310	N	1	B	0.24721	0.11	B	0.24155	0.051	T	0.35649	-0.9780	10	0.30078	T	0.28	-10.8831	5.2347	0.15441	0.2999:0.0:0.3028:0.3973	.	327	Q8IXI1	MIRO2_HUMAN	L	327	ENSP00000321971:V327L	ENSP00000321971:V327L	V	+	1	0	RHOT2	661885	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.054000	0.03496	-0.571000	0.06014	-1.423000	0.01107	GTG		0.711	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769	
CNBD2	140894	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	20	34611599	34611599	+	Missense_Mutation	SNP	T	T	A			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr20:34611599T>A	ENST00000373973.3	+	11	1518	c.1345T>A	c.(1345-1347)Ttg>Atg	p.L449M	CNBD2_ENST00000538900.1_Intron|CNBD2_ENST00000349339.1_Missense_Mutation_p.L445M			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	449																	GGGAAATGAGTTGATACGGAT	0.438																																						.											0													116.0	113.0	114.0					20																	34611599		2203	4300	6503	SO:0001583	missense	140894			AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1345T>A	20.37:g.34611599T>A	ENSP00000363084:p.Leu449Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	ENST00000373973.3	37		.	.	.	.	.	.	.	.	.	.	T	5.565	0.289134	0.10513	.	.	ENSG00000149646	ENST00000373973;ENST00000349339	T;T	0.55760	0.5;0.5	4.83	-2.93	0.05598	.	0.416111	0.21671	N	0.070873	T	0.22437	0.0541	N	0.03608	-0.345	0.80722	D	1	B	0.15473	0.013	B	0.18561	0.022	T	0.01266	-1.1401	10	0.46703	T	0.11	-6.2142	6.1413	0.20261	0.1648:0.0:0.2538:0.5814	.	445	Q96M20-2	.	M	449;445	ENSP00000363084:L449M;ENSP00000340954:L445M	ENSP00000340954:L445M	L	+	1	2	C20orf152	34075013	0.188000	0.23250	0.913000	0.36048	0.023000	0.10783	-1.726000	0.01861	-0.599000	0.05798	-2.316000	0.00254	TTG		0.438	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834	
PASK	23178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	242076636	242076636	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr2:242076636G>A	ENST00000405260.1	-	7	1618	c.920C>T	c.(919-921)aCc>aTc	p.T307I	PASK_ENST00000403638.3_Missense_Mutation_p.T307I|PASK_ENST00000234040.4_Missense_Mutation_p.T307I|PASK_ENST00000539818.1_Missense_Mutation_p.T91I|PASK_ENST00000544142.1_Missense_Mutation_p.T121I|PASK_ENST00000358649.4_Missense_Mutation_p.T307I	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	307					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AGGGAAGGTGGTACCGTCCCT	0.567																																						.											0													79.0	77.0	78.0					2																	242076636		2203	4300	6503	SO:0001583	missense	23178			U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.920C>T	2.37:g.242076636G>A	ENSP00000384016:p.Thr307Ile	Somatic		WXS	Illumina HiSeq	Phase_I	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	CCDS2545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.54|19.54	3.846814|3.846814	0.71603|0.71603	.|.	.|.	ENSG00000115687|ENSG00000115687	ENST00000433589|ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638;ENST00000415234	.|T;T;T;T;T;T;T	.|0.70164	.|0.88;-0.46;0.88;0.88;0.88;0.88;-0.46	5.26|5.26	3.36|3.36	0.38483|0.38483	.|.	.|0.255608	.|0.27072	.|N	.|0.021072	T|T	0.76090|0.76090	0.3939|0.3939	M|M	0.70595|0.70595	2.14|2.14	0.23198|0.23198	N|N	0.998137|0.998137	.|D;D;D;P;D	.|0.63046	.|0.961;0.992;0.977;0.921;0.961	.|P;P;P;B;P	.|0.62813	.|0.708;0.907;0.847;0.415;0.708	T|T	0.65512|0.65512	-0.6150|-0.6150	5|10	.|0.56958	.|D	.|0.05	.|.	10.6401|10.6401	0.45588|0.45588	0.0:0.1401:0.7161:0.1438|0.0:0.1401:0.7161:0.1438	.|.	.|272;121;307;307;307	.|B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.|.;.;.;.;PASK_HUMAN	S|I	122|307;121;307;307;91;307;91	.|ENSP00000234040:T307I;ENSP00000441374:T121I;ENSP00000384016:T307I;ENSP00000351475:T307I;ENSP00000443083:T91I;ENSP00000384438:T307I;ENSP00000400734:T91I	.|ENSP00000234040:T307I	P|T	-|-	1|2	0|0	PASK|PASK	241725309|241725309	0.998000|0.998000	0.40836|0.40836	0.972000|0.972000	0.41901|0.41901	0.869000|0.869000	0.49853|0.49853	1.015000|1.015000	0.29963|0.29963	2.453000|2.453000	0.82957|0.82957	0.467000|0.467000	0.42956|0.42956	CCA|ACC		0.567	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148	
LMBRD2	92255	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	36136550	36136550	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr5:36136550C>T	ENST00000296603.4	-	6	1070	c.608G>A	c.(607-609)gGg>gAg	p.G203E		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	203						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAAGCCATACCCCAACAACAA	0.413																																						.											0													155.0	153.0	154.0					5																	36136550		2203	4300	6503	SO:0001583	missense	92255				CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.608G>A	5.37:g.36136550C>T	ENSP00000296603:p.Gly203Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B3KRB6|Q9NTC7	Missense_Mutation	SNP	ENST00000296603.4	37	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	C	35	5.418317	0.96092	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	T	0.46451	0.87	6.17	6.17	0.99709	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.71533	0.3351	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73344	-0.4012	10	0.87932	D	0	-15.2823	20.8794	0.99867	0.0:1.0:0.0:0.0	.	203	Q68DH5	LMBD2_HUMAN	E	203;97	ENSP00000296603:G203E	ENSP00000296603:G203E	G	-	2	0	LMBRD2	36172307	1.000000	0.71417	0.991000	0.47740	0.950000	0.60333	7.401000	0.79962	2.941000	0.99782	0.655000	0.94253	GGG		0.413	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527	
ITGA2	3673	broad.mit.edu;hgsc.bcm.edu	37	5	52376390	52376393	+	Frame_Shift_Del	DEL	TCCC	TCCC	-			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	TCCC	TCCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr5:52376390_52376393delTCCC	ENST00000296585.5	+	25	3121_3124	c.2978_2981delTCCC	c.(2977-2982)atccctfs	p.IP993fs		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	993					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ATCATCCACATCCCTCAGTATACC	0.387																																						.											0																																										SO:0001589	frameshift_variant	3673				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.2978_2981delTCCC	5.37:g.52376390_52376393delTCCC	ENSP00000296585:p.Ile993fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q14595	Frame_Shift_Del	DEL	ENST00000296585.5	37	CCDS3957.1																																																																																				0.387	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203	
ADHFE1	137872	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	67357454	67357454	+	Splice_Site	SNP	T	T	G			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr8:67357454T>G	ENST00000396623.3	+	6	386	c.355T>G	c.(355-357)Ttc>Gtc	p.F119V	ADHFE1_ENST00000415254.1_Splice_Site_p.F71V|ADHFE1_ENST00000379385.4_Splice_Site_p.F119V|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	119					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TTCTCCAAGCTTCATGGAAGC	0.403																																						.											0													84.0	77.0	79.0					8																	67357454		2203	4300	6503	SO:0001630	splice_region_variant	137872			AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.354-1T>G	8.37:g.67357454T>G		Somatic		WXS	Illumina HiSeq	Phase_I	B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	ENST00000396623.3	37	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	T	15.76	2.929052	0.52759	.	.	ENSG00000147576	ENST00000523113;ENST00000379385;ENST00000396623;ENST00000415254	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.64	5.64	0.86602	Alcohol dehydrogenase, iron-type (1);	0.000000	0.85682	D	0.000000	T	0.38081	0.1027	N	0.20304	0.555	0.80722	D	1	P	0.51933	0.949	D	0.62955	0.909	T	0.13361	-1.0512	10	0.27785	T	0.31	-13.8237	15.8683	0.79084	0.0:0.0:0.0:1.0	.	119	Q8IWW8	HOT_HUMAN	V	54;119;119;71	ENSP00000428055:F54V;ENSP00000368695:F119V;ENSP00000379865:F119V;ENSP00000407115:F71V	ENSP00000368695:F119V	F	+	1	0	ADHFE1	67520008	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.707000	0.84623	2.148000	0.66965	0.533000	0.62120	TTC		0.403	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650	Missense_Mutation
OR13C2	392376	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	9	107367862	107367862	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr9:107367862C>T	ENST00000542196.1	-	1	89	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						ACCAGAAAGTCCCTTCAGAAA	0.373																																						.											0													38.0	42.0	41.0					9																	107367862		2192	4293	6485	SO:0001583	missense	392376				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.47G>A	9.37:g.107367862C>T	ENSP00000438815:p.Gly16Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B9EGV8|Q6IF54	Missense_Mutation	SNP	ENST00000542196.1	37	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.129777	0.37630	.	.	ENSG00000257019	ENST00000542196	T	0.00655	5.95	3.39	3.39	0.38822	.	0.000000	0.37261	U	0.002175	T	0.05090	0.0136	M	0.92412	3.305	0.09310	N	1	D	0.89917	1.0	D	0.74674	0.984	T	0.04885	-1.0920	10	0.87932	D	0	.	8.5624	0.33518	0.0:0.7617:0.2383:0.0	.	16	Q8NGS9	O13C2_HUMAN	E	16	ENSP00000438815:G16E	ENSP00000438815:G16E	G	-	2	0	OR13C2	106407683	0.006000	0.16342	0.693000	0.30195	0.714000	0.41099	1.382000	0.34374	1.723000	0.51488	0.462000	0.41574	GGA		0.373	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481	
SLCO1B7	338821	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	21242855	21242855	+	Missense_Mutation	SNP	G	G	A	rs112108376		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr12:21242855G>A	ENST00000421593.2	+	13	1738	c.1738G>A	c.(1738-1740)Ggc>Agc	p.G580S	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G688S|LST3_ENST00000540229.1_Missense_Mutation_p.G688S|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.G627S|LST3_ENST00000381541.3_Missense_Mutation_p.G627S|RP11-125O5.2_ENST00000590779.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	580						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AGCCTTCTTCGGCTTGAAGGT	0.303													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15372	0.0		0.0	False		,,,				2504	0.0					.											0								G	SER/GLY	0,3646		0,0,1823	55.0	54.0	55.0		1738	0.7	0.0	12	dbSNP_132	55	3,8171		0,3,4084	yes	missense	SLCO1B7	NM_001009562.4	56	0,3,5907	AA,AG,GG		0.0367,0.0,0.0254		580/641	21242855	3,11817	1823	4087	5910	SO:0001583	missense	338821			AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1738G>A	12.37:g.21242855G>A	ENSP00000394168:p.Gly580Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	CCDS44843.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	12.20	1.865807	0.32977	0.0	3.67E-4	ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754;ENSG00000205754;ENSG00000205754	ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957;ENST00000421593;ENST00000545916	D;T;D;T;D;T	0.86230	-2.09;0.99;-2.09;0.99;-2.09;-1.02	2.57	0.657	0.17850	.	0.060842	0.64402	N	0.000004	D	0.89100	0.6619	M	0.71206	2.165	0.09310	N	1	D;D;P	0.63046	0.992;0.992;0.792	P;P;B	0.62184	0.899;0.899;0.149	T	0.79750	-0.1672	10	0.56958	D	0.05	.	4.9992	0.14255	0.3056:0.0:0.6944:0.0	.	580;627;688	G3V0H7;F5H094;Q5JAR4	.;.;.	S	688;627;688;627;580;89	ENSP00000451758:G688S;ENSP00000370952:G627S;ENSP00000441269:G688S;ENSP00000452013:G627S;ENSP00000394168:G580S;ENSP00000439857:G89S	ENSP00000370952:G627S	G	+	1	0	SLCO1B3;SLCO1B7;RP11-545J16.1	21134122	0.059000	0.20769	0.001000	0.08648	0.001000	0.01503	0.457000	0.21875	0.151000	0.19162	0.505000	0.49811	GGC		0.303	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562	
ADD2	119	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	2	70910791	70910791	+	Missense_Mutation	SNP	C	C	A			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr2:70910791C>A	ENST00000264436.4	-	10	1501	c.1057G>T	c.(1057-1059)Ggg>Tgg	p.G353W	ADD2_ENST00000407644.2_Missense_Mutation_p.G353W|ADD2_ENST00000413157.2_Missense_Mutation_p.G353W|ADD2_ENST00000355733.3_Missense_Mutation_p.G353W|ADD2_ENST00000430656.1_Missense_Mutation_p.G369W	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	353					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TGCATAGGCCCAAAGGTGCTC	0.632																																						.											0													47.0	42.0	44.0					2																	70910791		2203	4300	6503	SO:0001583	missense	119			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1057G>T	2.37:g.70910791C>A	ENSP00000264436:p.Gly353Trp	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608811	0.87258	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000355733;ENST00000356565;ENST00000413157;ENST00000430656	T;T;T;T;T	0.09911	3.21;3.21;3.07;2.94;2.93	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.32763	0.0840	M	0.73217	2.22	0.80722	D	1	D;D;D;D	0.89917	0.999;0.998;0.998;1.0	D;D;D;D	0.97110	0.981;0.965;0.958;1.0	T	0.03148	-1.1067	10	0.87932	D	0	-31.9107	15.5561	0.76196	0.0:1.0:0.0:0.0	.	369;353;353;353	B4DM17;P35612-4;P35612;P35612-3	.;.;ADDB_HUMAN;.	W	353;353;353;353;353;369	ENSP00000264436:G353W;ENSP00000384677:G353W;ENSP00000347972:G353W;ENSP00000388072:G353W;ENSP00000398112:G369W	ENSP00000264436:G353W	G	-	1	0	ADD2	70764299	1.000000	0.71417	0.924000	0.36721	0.977000	0.68977	7.462000	0.80851	2.541000	0.85698	0.655000	0.94253	GGG		0.632	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617	
GUCY1A3	2982	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	4	156638325	156638325	+	Silent	SNP	C	C	T	rs112384014		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr4:156638325C>T	ENST00000296518.7	+	8	1796	c.1587C>T	c.(1585-1587)ggC>ggT	p.G529G	GUCY1A3_ENST00000455639.2_Silent_p.G529G|GUCY1A3_ENST00000511108.1_Silent_p.G529G|GUCY1A3_ENST00000506455.1_Silent_p.G529G|GUCY1A3_ENST00000513574.1_Silent_p.G529G|GUCY1A3_ENST00000393832.3_Silent_p.G271G|GUCY1A3_ENST00000511507.1_Silent_p.G529G			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	529	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.G529G(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AGACCATTGGCGATGCCTATT	0.413																																						.											1	Substitution - coding silent(1)	large_intestine(1)											135.0	130.0	132.0					4																	156638325		2203	4300	6503	SO:0001819	synonymous_variant	2982				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1587C>T	4.37:g.156638325C>T		Somatic		WXS	Illumina HiSeq	Phase_I	D3DP19|D6RDW3|O43843|Q8TAH3	Silent	SNP	ENST00000296518.7	37	CCDS34085.1																																																																																				0.413	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2		
TEX38	374973	broad.mit.edu	37	1	47139255	47139255	+	3'UTR	DEL	A	A	-			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr1:47139255delA	ENST00000334122.4	+	0	855				ATPAF1_ENST00000525633.1_5'UTR|EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14_ENST00000544071.1_Intron|EFCAB14-AS1_ENST00000418985.1_RNA	NM_001145474.2	NP_001138946.1	Q6PEX7	TEX38_HUMAN	testis expressed 38							integral component of membrane (GO:0016021)											ACATTAAAAGAAAAAAAAAAA	0.448																																						.											0																																										SO:0001624	3_prime_UTR_variant	374973				CCDS57999.1, CCDS72780.1, CCDS72781.1	1p33	2012-10-12	2012-10-12	2012-10-12	ENSG00000186118	ENSG00000186118			29589	protein-coding gene	gene with protein product	"""testis highly expressed protein 4"""		"""chromosome 1 open reading frame 223"", ""ATPAF1 antisense RNA 1 (non-protein coding)"", ""ATPAF1 antisense RNA 1"""	C1orf223, ATPAF1-AS1		12477932	Standard	XM_005270845		Approved	LOC374973, THEG4	uc001cqj.3	Q6PEX7	OTTHUMG00000007991	ENST00000334122.4:c.*127A>-	1.37:g.47139255delA		Somatic		WXS	Illumina HiSeq	Phase_I	A1A4F8	Splice_Site	DEL	ENST00000334122.4	37	CCDS57999.1																																																																																				0.448	TEX38-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000021929.2	NM_001145474	
SIRT1	23411	broad.mit.edu	37	10	69648852	69648852	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr10:69648852delA	ENST00000212015.6	+	3	813	c.760delA	c.(760-762)aaafs	p.K255fs	SIRT1_ENST00000432464.1_Intron|SIRT1_ENST00000497639.1_3'UTR|SIRT1_ENST00000406900.1_5'Flank	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	255	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Interaction with CCAR2.|Interaction with HIST1H1E.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						GCAAGAGTGCAAAAAAATTAT	0.333																																						.											0													51.0	55.0	54.0					10																	69648852		2202	4299	6501	SO:0001589	frameshift_variant	23411			AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1"", ""sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"""			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.760delA	10.37:g.69648852delA	ENSP00000212015:p.Lys255fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Frame_Shift_Del	DEL	ENST00000212015.6	37	CCDS7273.1																																																																																				0.333	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1		
ZDHHC17	23390	broad.mit.edu;mdanderson.org	37	12	77216266	77216266	+	Silent	SNP	A	A	G			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr12:77216266A>G	ENST00000426126.2	+	8	1501	c.852A>G	c.(850-852)aaA>aaG	p.K284K	ZDHHC17_ENST00000334822.5_Silent_p.K284K	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	284					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						GGCAAGCAAAAGGATATGACA	0.368																																						.											0													58.0	56.0	57.0					12																	77216266		1863	4108	5971	SO:0001819	synonymous_variant	23390			AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.852A>G	12.37:g.77216266A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Silent	SNP	ENST00000426126.2	37	CCDS44946.1																																																																																				0.368	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336	
GOLGA6L6	727832	broad.mit.edu	37	15	20740040	20740040	+	Missense_Mutation	SNP	A	A	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr15:20740040A>C	ENST00000427390.2	-	8	1800	c.1710T>G	c.(1708-1710)gaT>gaG	p.D570E		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	570	Gln-rich.|Glu-rich.							p.D570E(2)		NS(3)|endometrium(4)|kidney(1)|skin(3)	11						tccacatcttatcctcctgct	0.562																																						.											2	Substitution - Missense(2)	kidney(1)|skin(1)											39.0	41.0	41.0					15																	20740040		671	1549	2220	SO:0001583	missense	727832			AK093450	CCDS45184.1	15q11.2	2014-02-12	2010-02-12		ENSG00000215405	ENSG00000277322			37225	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 6"""				Standard	NM_001145004		Approved	FLJ36131	uc001ytk.2	A8MZA4	OTTHUMG00000171663	ENST00000427390.2:c.1710T>G	15.37:g.20740040A>C	ENSP00000398615:p.Asp570Glu	Somatic		WXS	Illumina HiSeq	Phase_I	D3YTC0	Missense_Mutation	SNP	ENST00000427390.2	37	CCDS45184.1	.	.	.	.	.	.	.	.	.	.	C	1.368	-0.586972	0.03827	.	.	ENSG00000215405	ENST00000427390	T	0.07444	3.19	.	.	.	.	.	.	.	.	T	0.01489	0.0048	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31971	-0.9924	7	0.02654	T	1	.	.	.	.	.	570	A8MZA4	GG6L6_HUMAN	E	570	ENSP00000398615:D570E	ENSP00000398615:D570E	D	-	3	2	GOLGA6L6	19000054	0.000000	0.05858	0.011000	0.14972	0.011000	0.07611	0.104000	0.15313	-1.815000	0.01222	-1.875000	0.00549	GAT		0.562	GOLGA6L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414660.3	NM_001145004	
WASH3P	374666	broad.mit.edu	37	15	102515344	102515344	+	RNA	SNP	A	A	C	rs201179768		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr15:102515344A>C	ENST00000557932.1	+	0	1190				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GCTGGAGAAGAAGCAGCAGAA	0.662																																						.											0																																												374666					15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515344A>C		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP	ENST00000557932.1	37		.	.	.	.	.	.	.	.	.	.	N	3.851	-0.031828	0.07543	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.101796	0.64402	D	0.000003	T	0.38692	0.1050	.	.	.	.	.	.	.	.	.	.	.	.	T	0.43893	-0.9363	4	.	.	.	-23.4337	6.225	0.20703	1.0:0.0:0.0:0.0	.	.	.	.	Q	398;389	.	.	K	+	1	0	WASH3P	100332867	1.000000	0.71417	0.992000	0.48379	0.387000	0.30353	7.578000	0.82498	0.719000	0.32188	0.155000	0.16302	AAG		0.662	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163	
CDR2	1039	broad.mit.edu	37	16	22444123	22444123	+	5'UTR	SNP	G	G	A	rs200715642		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr16:22444123G>A	ENST00000569045.1	-	0	509				RRN3P3_ENST00000551766.1_RNA			Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa							cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		ATCACTATCCGCTCAAAATTC	0.333																																						.											0																																										SO:0001623	5_prime_UTR_variant	100131998			M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"""Yo paraneoplastic antigen"""	117340	"""cerebellar degeneration-related protein (62kD)"""			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000569045.1:c.-317C>T	16.37:g.22444123G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K8A8|Q13977	RNA	SNP	ENST00000569045.1	37																																																																																					0.333	CDR2-006	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000430087.1		
CEP76	79959	broad.mit.edu	37	18	12699829	12699829	+	Splice_Site	DEL	T	T	-			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr18:12699829delT	ENST00000262127.2	-	3	520	c.295delA	c.(295-297)act>ct	p.T99fs	PSMG2_ENST00000585331.2_Intron|PSMG2_ENST00000317615.6_5'Flank|CEP76_ENST00000423709.2_Splice_Site_p.S99fs|CEP76_ENST00000586887.1_5'UTR	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	99					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)		p.T99fs*90(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATATACATACTTTTTTTTAAT	0.318																																						.											1	Deletion - Frameshift(1)	large_intestine(1)											19.0	20.0	20.0					18																	12699829		2199	4282	6481	SO:0001630	splice_region_variant	79959			BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 9"""	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.295+1A>-	18.37:g.12699829delT		Somatic		WXS	Illumina HiSeq	Phase_I	B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Frame_Shift_Del	DEL	ENST00000262127.2	37	CCDS11861.1																																																																																				0.318	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899	Frame_Shift_Del
ZNF224	7767	broad.mit.edu	37	19	44611929	44611929	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr19:44611929C>T	ENST00000336976.6	+	6	1870	c.1616C>T	c.(1615-1617)cCa>cTa	p.P539L	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	539					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GGAGAGAGACCATACAATTGT	0.428																																						.											0													104.0	98.0	100.0					19																	44611929		2203	4300	6503	SO:0001583	missense	7767			AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"""Zinc fingers, C2H2-type"", ""-"""	13017	protein-coding gene	gene with protein product		194555	"""zinc finger protein 255"", ""zinc finger protein 27"""	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.1616C>T	19.37:g.44611929C>T	ENSP00000337368:p.Pro539Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Missense_Mutation	SNP	ENST00000336976.6	37	CCDS33046.1	.	.	.	.	.	.	.	.	.	.	c	16.08	3.021545	0.54576	.	.	ENSG00000186019	ENST00000336976	T	0.27557	1.66	2.69	2.69	0.31865	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35537	0.0935	M	0.73372	2.23	0.24003	N	0.996201	P	0.40302	0.712	B	0.39562	0.303	T	0.31052	-0.9957	9	0.87932	D	0	.	12.522	0.56065	0.0:1.0:0.0:0.0	.	539	Q9NZL3	ZN224_HUMAN	L	539	ENSP00000337368:P539L	ENSP00000337368:P539L	P	+	2	0	ZNF224	49303769	0.011000	0.17503	0.121000	0.21740	0.329000	0.28539	1.539000	0.36104	1.496000	0.48567	0.591000	0.81541	CCA		0.428	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398	
THADA	63892	broad.mit.edu;bcgsc.ca	37	2	43755040	43755040	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr2:43755040T>C	ENST00000405006.4	-	22	3703	c.3352A>G	c.(3352-3354)Aaa>Gaa	p.K1118E	THADA_ENST00000330266.7_Missense_Mutation_p.K828E|THADA_ENST00000405975.2_Missense_Mutation_p.K1118E|THADA_ENST00000415080.2_Missense_Mutation_p.K828E	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1118										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCAGTGAGTTTCACAAAACCA	0.313																																						.											0													208.0	201.0	203.0					2																	43755040		1838	4089	5927	SO:0001583	missense	63892			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.3352A>G	2.37:g.43755040T>C	ENSP00000385995:p.Lys1118Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.83|13.83	2.353690|2.353690	0.41700|0.41700	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006|ENST00000407351	T;T;T;T|.	0.42131|.	0.98;0.98;0.98;0.98|.	5.68|5.68	4.49|4.49	0.54785|0.54785	Domain of unknown function DUF2428, death-receptor-like (1);Armadillo-type fold (1);|.	0.220796|.	0.41605|.	D|.	0.000860|.	T|.	0.47414|.	0.1444|.	L|L	0.45137|0.45137	1.4|1.4	0.31061|0.31061	N|N	0.714094|0.714094	D;D;P;D|.	0.67145|.	0.98;0.996;0.776;0.984|.	P;P;P;P|.	0.57620|.	0.758;0.824;0.536;0.802|.	T|.	0.50792|.	-0.8786|.	10|.	0.72032|.	D|.	0.01|.	.|.	12.0505|12.0505	0.53503|0.53503	0.0:0.0:0.2709:0.7291|0.0:0.0:0.2709:0.7291	.|.	828;1119;828;1118|.	Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6|.	.;.;.;THADA_HUMAN|.	E|W	828;1118;1119;828;1118|431	ENSP00000331105:K828E;ENSP00000386088:K1118E;ENSP00000416048:K828E;ENSP00000385995:K1118E|.	ENSP00000331105:K828E|.	K|X	-|-	1|3	0|0	THADA|THADA	43608544|43608544	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	3.935000|3.935000	0.56560|0.56560	0.945000|0.945000	0.37605|0.37605	0.459000|0.459000	0.35465|0.35465	AAA|TGA		0.313	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065	
SERINC3	10955	broad.mit.edu;mdanderson.org	37	20	43129733	43129733	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr20:43129733T>C	ENST00000342374.4	-	9	1421	c.1264A>G	c.(1264-1266)Acc>Gcc	p.T422A	SERINC3_ENST00000255175.1_Missense_Mutation_p.T422A|SERINC3_ENST00000541235.1_Missense_Mutation_p.T367A	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	422					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			CTGGTCAGGGTCATCATGATG	0.493																																						.											0													115.0	105.0	109.0					20																	43129733		2203	4300	6503	SO:0001583	missense	10955			U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.1264A>G	20.37:g.43129733T>C	ENSP00000340243:p.Thr422Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	ENST00000342374.4	37	CCDS13333.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.995964	0.74703	.	.	ENSG00000132824	ENST00000411544;ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	T;T;T;T	0.16324	2.35;2.35;2.35;2.35	5.3	4.2	0.49525	.	0.044662	0.85682	D	0.000000	T	0.48132	0.1483	M	0.93808	3.46	0.80722	D	1	B;P	0.48834	0.291;0.916	P;D	0.64237	0.491;0.923	T	0.55496	-0.8132	10	0.52906	T	0.07	-20.6231	10.9707	0.47438	0.0:0.0729:0.0:0.9271	.	422;422	Q53GK8;Q13530	.;SERC3_HUMAN	A	161;422;422;389;367	ENSP00000414197:T161A;ENSP00000255175:T422A;ENSP00000340243:T422A;ENSP00000440966:T367A	ENSP00000255175:T422A	T	-	1	0	SERINC3	42563147	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.746000	0.85057	1.038000	0.40049	0.460000	0.39030	ACC		0.493	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	NM_006811	
DSCAM	1826	broad.mit.edu;mdanderson.org	37	21	41384994	41384994	+	Silent	SNP	G	G	A			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr21:41384994G>A	ENST00000400454.1	-	33	6483	c.6006C>T	c.(6004-6006)aaC>aaT	p.N2002N		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	2002				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGTAAGGATTGTTTCCTTTCA	0.463																																					Melanoma(134;970 1778 1785 21664 32388)	.											0													66.0	65.0	66.0					21																	41384994		1892	4127	6019	SO:0001819	synonymous_variant	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.6006C>T	21.37:g.41384994G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O60468	Silent	SNP	ENST00000400454.1	37	CCDS42929.1																																																																																				0.463	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389	
GCSAM	257144	broad.mit.edu	37	3	111842562	111842562	+	Missense_Mutation	SNP	C	C	A	rs570762149	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr3:111842562C>A	ENST00000308910.4	-	6	461	c.277G>T	c.(277-279)Gtt>Ttt	p.V93F	C3orf52_ENST00000467942.2_Intron|GCSAM_ENST00000484193.1_Missense_Mutation_p.V95F	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1	Q8N6F7	GCSAM_HUMAN	germinal center-associated, signaling and motility	93					negative regulation of lymphocyte migration (GO:2000402)|regulation of B cell receptor signaling pathway (GO:0050855)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|myosin II binding (GO:0045159)|protein kinase binding (GO:0019901)										GTACAGAGAACCCGATGATTG	0.483																																						.											0													140.0	118.0	126.0					3																	111842562		2203	4300	6503	SO:0001583	missense	257144			BC030506	CCDS2964.1, CCDS54621.1, CCDS54622.1	3q13.13	2012-09-03	2012-08-23	2012-08-23	ENSG00000174500	ENSG00000174500			20253	protein-coding gene	gene with protein product	"""human germinal center-associated lymphoma"""	607792	"""germinal center expressed transcript 2"""	GCET2			Standard	NM_152785		Approved	MGC40441, HGAL	uc021xcl.1	Q8N6F7	OTTHUMG00000159231	ENST00000308910.4:c.277G>T	3.37:g.111842562C>A	ENSP00000309487:p.Val93Phe	Somatic		WXS	Illumina HiSeq	Phase_I	C9JD17|C9JUG6	Missense_Mutation	SNP	ENST00000308910.4	37	CCDS2964.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474764	0.43942	.	.	ENSG00000174500	ENST00000308910;ENST00000484193;ENST00000460387;ENST00000488580;ENST00000487901	.	.	.	4.2	2.41	0.29592	.	0.491893	0.17030	N	0.189773	T	0.51244	0.1663	L	0.56769	1.78	0.09310	N	1	D	0.63880	0.993	P	0.61132	0.884	T	0.34378	-0.9831	9	0.72032	D	0.01	-2.5888	6.4966	0.22146	0.0:0.7837:0.0:0.2163	.	93	Q8N6F7	GCET2_HUMAN	F	93;95;78;76;76	.	ENSP00000309487:V93F	V	-	1	0	GCET2	113325252	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.548000	0.23314	0.725000	0.32318	0.655000	0.94253	GTT		0.483	GCSAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353967.2	NM_152785	
ATP6V1A	523	broad.mit.edu	37	3	113522467	113522467	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr3:113522467T>C	ENST00000273398.3	+	13	1640	c.1532T>C	c.(1531-1533)gTa>gCa	p.V511A	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.V478A|ATP6V1A_ENST00000461496.1_3'UTR	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	511					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	ACTCTGGAGGTAGCAAAACTT	0.308																																						.											0													115.0	125.0	122.0					3																	113522467		2203	4295	6498	SO:0001583	missense	523			L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.1532T>C	3.37:g.113522467T>C	ENSP00000273398:p.Val511Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	37	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.475070	0.84640	.	.	ENSG00000114573	ENST00000545842;ENST00000273398;ENST00000538620	T;T	0.77229	-1.08;-1.08	5.54	5.54	0.83059	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (2);ATPase, F1 complex beta subunit/V1 complex, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89001	0.6591	M	0.86740	2.835	0.80722	D	1	P	0.52463	0.953	D	0.67725	0.953	D	0.90023	0.4129	10	0.51188	T	0.08	-7.4545	15.676	0.77321	0.0:0.0:0.0:1.0	.	511	P38606	VATA_HUMAN	A	228;511;478	ENSP00000273398:V511A;ENSP00000439874:V478A	ENSP00000273398:V511A	V	+	2	0	ATP6V1A	115005157	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.994000	0.88315	2.100000	0.63781	0.528000	0.53228	GTA		0.308	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690	
KIAA1407	57577	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	113775289	113775289	+	Missense_Mutation	SNP	A	A	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr3:113775289A>C	ENST00000295878.3	-	1	171	c.25T>G	c.(25-27)Tcc>Gcc	p.S9A	QTRTD1_ENST00000485050.1_5'Flank|KIAA1407_ENST00000545063.1_5'UTR|KIAA1407_ENST00000480588.1_5'UTR|QTRTD1_ENST00000281273.4_5'Flank|QTRTD1_ENST00000479882.1_5'Flank|QTRTD1_ENST00000493014.1_5'Flank	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	9										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TTTGAGAAGGACCTTCCCTGA	0.602																																						.											0													121.0	131.0	128.0					3																	113775289		2203	4300	6503	SO:0001583	missense	57577			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.25T>G	3.37:g.113775289A>C	ENSP00000295878:p.Ser9Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	CCDS2977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.810|0.810	-0.752298|-0.752298	0.03041|0.03041	.|.	.|.	ENSG00000163617|ENSG00000163617	ENST00000295878;ENST00000491000|ENST00000483766	T;T|.	0.44881|.	1.59;0.91|.	5.54|5.54	-1.63|-1.63	0.08345|0.08345	.|.	0.433787|.	0.23053|.	N|.	0.052470|.	T|T	0.19127|0.19127	0.0459|0.0459	N|N	0.19112|0.19112	0.55|0.55	0.18873|0.18873	N|N	0.999983|0.999983	B;B|.	0.09022|.	0.002;0.002|.	B;B|.	0.11329|.	0.006;0.006|.	T|T	0.26573|0.26573	-1.0099|-1.0099	10|6	0.02654|0.27082	T|T	1|0.32	.|.	3.19|3.19	0.06614|0.06614	0.302:0.4672:0.0924:0.1385|0.302:0.4672:0.0924:0.1385	.|.	9;9|.	C9JA89;Q8NCU4|.	.;K1407_HUMAN|.	A|G	9|33	ENSP00000295878:S9A;ENSP00000418099:S9A|.	ENSP00000295878:S9A|ENSP00000418991:V33G	S|V	-|-	1|2	0|0	KIAA1407|KIAA1407	115257979|115257979	0.033000|0.033000	0.19621|0.19621	0.003000|0.003000	0.11579|0.11579	0.017000|0.017000	0.09413|0.09413	0.144000|0.144000	0.16135|0.16135	-0.088000|-0.088000	0.12506|0.12506	0.533000|0.533000	0.62120|0.62120	TCC|GTC		0.602	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817	
LPHN3	23284	broad.mit.edu;mdanderson.org	37	4	62598528	62598528	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr4:62598528T>C	ENST00000514591.1	+	7	780	c.451T>C	c.(451-453)Tcc>Ccc	p.S151P	LPHN3_ENST00000514996.1_Missense_Mutation_p.S151P|LPHN3_ENST00000545650.1_Missense_Mutation_p.S151P|LPHN3_ENST00000511324.1_Missense_Mutation_p.S219P|LPHN3_ENST00000507625.1_Missense_Mutation_p.S219P|LPHN3_ENST00000506720.1_Missense_Mutation_p.S219P|LPHN3_ENST00000508946.1_Missense_Mutation_p.S151P|LPHN3_ENST00000504896.1_Missense_Mutation_p.S151P|LPHN3_ENST00000512091.2_Missense_Mutation_p.S151P|LPHN3_ENST00000506746.1_Missense_Mutation_p.S219P|LPHN3_ENST00000509896.1_Missense_Mutation_p.S219P|LPHN3_ENST00000507164.1_Missense_Mutation_p.S219P|LPHN3_ENST00000508693.1_Missense_Mutation_p.S219P|LPHN3_ENST00000506700.1_Missense_Mutation_p.S151P|LPHN3_ENST00000514157.1_Missense_Mutation_p.S151P			Q9HAR2	LPHN3_HUMAN	latrophilin 3	151	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTTGTTTGAGTCCGACCACCA	0.408																																						.											0													35.0	33.0	33.0					4																	62598528		1872	4103	5975	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.451T>C	4.37:g.62598528T>C	ENSP00000422533:p.Ser151Pro	Somatic		WXS	Illumina HiSeq	Phase_I	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.985945	0.53934	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	5.77	5.77	0.91146	.	0.059262	0.64402	D	0.000001	D	0.93442	0.7908	M	0.75615	2.305	0.45899	D	0.998742	D;D;P	0.76494	0.997;0.999;0.718	D;D;B	0.83275	0.995;0.996;0.264	D	0.93591	0.6921	10	0.59425	D	0.04	.	11.2897	0.49244	0.0:0.0:0.1523:0.8477	.	151;219;151	E9PE04;E7EN28;Q9HAR2-2	.;.;.	P	151;151;219;219;151;151;151;151;151;219;219;219;151;151;151;219;219;151	ENSP00000423388:S151P;ENSP00000422533:S151P;ENSP00000423787:S219P;ENSP00000425033:S219P;ENSP00000424120:S151P;ENSP00000439831:S151P;ENSP00000421476:S219P;ENSP00000424030:S219P;ENSP00000421372:S219P;ENSP00000425201:S151P;ENSP00000423434:S151P;ENSP00000421627:S151P;ENSP00000420931:S219P;ENSP00000425884:S219P;ENSP00000424258:S151P	ENSP00000280009:S151P	S	+	1	0	LPHN3	62281123	1.000000	0.71417	0.919000	0.36401	0.900000	0.52787	4.972000	0.63756	2.206000	0.71126	0.455000	0.32223	TCC		0.408	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1		
CXCL13	10563	broad.mit.edu	37	4	78528886	78528886	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr4:78528886A>G	ENST00000286758.4	+	3	172	c.94A>G	c.(94-96)Agg>Ggg	p.R32G		NM_006419.2	NP_006410.1	O43927	CXL13_HUMAN	chemokine (C-X-C motif) ligand 13	32					activation of Rap GTPase activity (GO:0032861)|B cell chemotaxis (GO:0035754)|B cell chemotaxis across high endothelial venule (GO:0035769)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|chronic inflammatory response (GO:0002544)|defense response to bacterium (GO:0042742)|endothelial cell chemotaxis to fibroblast growth factor (GO:0035768)|germinal center formation (GO:0002467)|immune response (GO:0006955)|lymph node development (GO:0048535)|lymphocyte chemotaxis across high endothelial venule (GO:0002518)|negative regulation of endothelial cell chemotaxis to fibroblast growth factor (GO:2000545)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of integrin activation (GO:0033625)|positive regulation of T cell chemotaxis (GO:0010820)|regulation of angiogenesis (GO:0045765)|regulation of humoral immune response (GO:0002920)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR10 chemokine receptor binding (GO:0031735)|chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|CXCR5 chemokine receptor binding (GO:0031724)|fibroblast growth factor binding (GO:0017134)|heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|receptor agonist activity (GO:0048018)			large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1)	4						CACAAGCTTGAGGTGTAGATG	0.373																																						.											0													170.0	157.0	161.0					4																	78528886		2203	4300	6503	SO:0001583	missense	10563			AJ002211	CCDS3582.1	4q21	2013-02-25	2008-08-29	2002-08-23	ENSG00000156234	ENSG00000156234		"""Endogenous ligands"""	10639	protein-coding gene	gene with protein product	"""B-cell chemoattractant"""	605149	"""small inducible cytokine B subfamily (Cys-X-Cys motif), member 13 (B-cell chemoattractant)"""	SCYB13		9463416, 9486651	Standard	NM_006419		Approved	BLC, BCA-1, BLR1L, ANGIE, ANGIE2	uc003hkr.3	O43927	OTTHUMG00000130201	ENST00000286758.4:c.94A>G	4.37:g.78528886A>G	ENSP00000286758:p.Arg32Gly	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000286758.4	37	CCDS3582.1	.	.	.	.	.	.	.	.	.	.	A	11.58	1.680365	0.29872	.	.	ENSG00000156234	ENST00000286758	T	0.15256	2.44	5.13	5.13	0.70059	Chemokine interleukin-8-like domain (2);	0.284845	0.31347	N	0.007820	T	0.19327	0.0464	L	0.55743	1.74	0.23834	N	0.996713	P	0.34997	0.479	B	0.36378	0.223	T	0.19679	-1.0298	10	0.87932	D	0	-18.6858	11.5101	0.50488	1.0:0.0:0.0:0.0	.	32	O43927	CXL13_HUMAN	G	32	ENSP00000286758:R32G	ENSP00000286758:R32G	R	+	1	2	CXCL13	78747910	0.975000	0.34042	0.344000	0.25628	0.006000	0.05464	3.864000	0.56024	2.281000	0.76405	0.528000	0.53228	AGG		0.373	CXCL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252519.1		
FRAS1	80144	broad.mit.edu;mdanderson.org	37	4	79403634	79403634	+	Silent	SNP	C	C	T	rs536123620		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr4:79403634C>T	ENST00000264895.6	+	58	9137	c.8697C>T	c.(8695-8697)gcC>gcT	p.A2899A		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2895					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CACAAGGAGCCGAACTGACCA	0.443													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21295	0.0		0.0	False		,,,				2504	0.0					.											0													163.0	162.0	162.0					4																	79403634		1916	4128	6044	SO:0001819	synonymous_variant	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8697C>T	4.37:g.79403634C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.369210	0.24771	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.9	2.93	0.34026	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0223	0.19636	0.4432:0.4265:0.0:0.1303	.	.	.	.	X	1128	.	.	R	+	1	2	FRAS1	79622658	0.094000	0.21725	1.000000	0.80357	0.997000	0.91878	-0.625000	0.05534	1.474000	0.48178	0.585000	0.79938	CGA		0.443	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
FAM135B	51059	broad.mit.edu	37	8	139165349	139165349	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr8:139165349T>C	ENST00000395297.1	-	13	1539	c.1369A>G	c.(1369-1371)Agg>Ggg	p.R457G		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	457										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGGTCTTCCCTAAAAGATAAA	0.373										HNSCC(54;0.14)																												.											0													76.0	73.0	74.0					8																	139165349		1884	4109	5993	SO:0001583	missense	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1369A>G	8.37:g.139165349T>C	ENSP00000378710:p.Arg457Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	T	6.245	0.413338	0.11812	.	.	ENSG00000147724	ENST00000395297	T	0.16073	2.37	5.6	4.42	0.53409	.	1.343740	0.04323	N	0.350980	T	0.29093	0.0723	L	0.57536	1.79	0.09310	N	1	D;P;B	0.53462	0.96;0.775;0.22	P;B;B	0.47891	0.56;0.382;0.086	T	0.20571	-1.0271	10	0.51188	T	0.08	-0.0111	10.8283	0.46647	0.0:0.0:0.1583:0.8417	.	457;457;457	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	G	457	ENSP00000378710:R457G	ENSP00000276737:R457G	R	-	1	2	FAM135B	139234531	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	0.302000	0.19192	0.935000	0.37341	0.533000	0.62120	AGG		0.373	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
ELAVL2	1993	broad.mit.edu	37	9	23762052	23762052	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr9:23762052T>C	ENST00000397312.2	-	2	455	c.181A>G	c.(181-183)Agc>Ggc	p.S61G	ELAVL2_ENST00000380117.1_Missense_Mutation_p.S61G|ELAVL2_ENST00000380110.4_Missense_Mutation_p.S90G|ELAVL2_ENST00000462649.1_5'Flank|ELAVL2_ENST00000544538.1_Missense_Mutation_p.S61G|ELAVL2_ENST00000223951.6_Missense_Mutation_p.S61G	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	61	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TCACCAATGCTCCCAAAGAGA	0.393																																						.											0													193.0	179.0	184.0					9																	23762052		2203	4300	6503	SO:0001583	missense	1993			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.181A>G	9.37:g.23762052T>C	ENSP00000380479:p.Ser61Gly	Somatic		WXS	Illumina HiSeq	Phase_I	D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	T	17.34	3.364284	0.61513	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000440102	T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42	5.92	5.92	0.95590	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.28797	0.0714	L	0.31294	0.92	0.80722	D	1	D;D	0.63880	0.989;0.993	P;P	0.60682	0.805;0.878	T	0.01874	-1.1256	10	0.87932	D	0	.	16.371	0.83361	0.0:0.0:0.0:1.0	.	61;61	Q12926;Q12926-2	ELAV2_HUMAN;.	G	61;61;61;61;61;89;61	ENSP00000223951:S61G;ENSP00000380479:S61G;ENSP00000440998:S61G;ENSP00000369460:S61G;ENSP00000412602:S61G	ENSP00000223951:S61G	S	-	1	0	ELAVL2	23752052	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.295000	0.72744	2.267000	0.75376	0.477000	0.44152	AGC		0.393	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432	
BRWD3	254065	broad.mit.edu	37	X	79989615	79989615	+	Splice_Site	SNP	A	A	G			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chrX:79989615A>G	ENST00000373275.4	-	11	1303		c.e11+1			NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3						cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATTTTCTCTTACCGTATGTGA	0.333																																						.											0													110.0	100.0	103.0					X																	79989615		2203	4296	6499	SO:0001630	splice_region_variant	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1086+1T>C	X.37:g.79989615A>G		Somatic		WXS	Illumina HiSeq	Phase_I	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Splice_Site	SNP	ENST00000373275.4	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	A	18.83	3.707187	0.68615	.	.	ENSG00000165288	ENST00000373275	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2102	0.65759	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BRWD3	79876271	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.672000	0.91181	1.932000	0.55993	0.441000	0.28932	.		0.333	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252	Intron
CT55	54967	broad.mit.edu;mdanderson.org	37	X	134294442	134294442	+	Silent	SNP	G	G	A			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chrX:134294442G>A	ENST00000276241.6	-	3	544	c.318C>T	c.(316-318)ccC>ccT	p.P106P	CXorf48_ENST00000344129.2_Silent_p.P106P	NM_001031705.2	NP_001026875.1	Q8WUE5	CT55_HUMAN		106										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					CTGAGTCTGAGGGTCCAGCAC	0.328																																						.											0													38.0	36.0	37.0					X																	134294442		2203	4298	6501	SO:0001819	synonymous_variant	54967																														ENST00000276241.6:c.318C>T	X.37:g.134294442G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q9NWY8	Silent	SNP	ENST00000276241.6	37	CCDS35400.1																																																																																				0.328	CXorf48-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058404.1		
BRCC3	79184	broad.mit.edu	37	X	154344462	154344462	+	Splice_Site	SNP	A	A	T			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chrX:154344462A>T	ENST00000369462.1	+	9	779	c.754A>T	c.(754-756)Agc>Tgc	p.S252C	BRCC3_ENST00000399042.1_Splice_Site_p.S252C|BRCC3_ENST00000330045.7_Splice_Site_p.S227C|BRCC3_ENST00000340647.4_Splice_Site_p.S228C|BRCC3_ENST00000369459.2_Intron|MTCP1_ENST00000362018.2_Intron	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	252					double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|regulation of catalytic activity (GO:0050790)|response to ionizing radiation (GO:0010212)|response to X-ray (GO:0010165)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|nuclear ubiquitin ligase complex (GO:0000152)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	enzyme regulator activity (GO:0030234)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|polyubiquitin binding (GO:0031593)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GAGGATCCACAGGTAGAGACc	0.502																																						.											0													73.0	64.0	67.0					X																	154344462		1981	4142	6123	SO:0001630	splice_region_variant	79184			X64643	CCDS56610.1, CCDS56611.1, CCDS56612.1	Xq28	2013-05-29	2005-11-21	2005-11-21	ENSG00000185515	ENSG00000185515			24185	protein-coding gene	gene with protein product	"""Lys-63-specific deubiquitinase"""	300617	"""chromosome X open reading frame 53"""	CXorf53		1303175, 14636569	Standard	NM_024332		Approved	C6.1A, BRCC36	uc004fna.3	P46736	OTTHUMG00000022658	ENST00000369462.1:c.755+1A>T	X.37:g.154344462A>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Missense_Mutation	SNP	ENST00000369462.1	37	CCDS56611.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.950183	0.73787	.	.	ENSG00000185515	ENST00000340647;ENST00000330045;ENST00000369462;ENST00000399042	T;T;T;T	0.47869	0.85;0.85;0.83;0.83	4.57	4.57	0.56435	.	0.045370	0.85682	D	0.000000	T	0.49932	0.1586	N	0.22421	0.69	0.80722	D	1	D;D	0.71674	0.992;0.998	P;P	0.61201	0.794;0.885	T	0.52631	-0.8550	10	0.52906	T	0.07	-10.0279	12.4562	0.55706	1.0:0.0:0.0:0.0	.	227;252	P46736-2;P46736	.;BRCC3_HUMAN	C	228;227;252;252	ENSP00000344103:S228C;ENSP00000328641:S227C;ENSP00000358474:S252C;ENSP00000381998:S252C	ENSP00000328641:S227C	S	+	1	0	BRCC3	153997656	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.698000	0.74608	1.775000	0.52247	0.481000	0.45027	AGC		0.502	BRCC3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058788.4	NM_024332	Missense_Mutation
DDX11L1	100287102	broad.mit.edu	37	1	13417	13418	+	RNA	INS	-	-	GAGA			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr1:13417_13418insGAGA	ENST00000456328.2	+	0	665_666					NR_046018.2|NR_051986.1				DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 1																		TCCACCACCCCGAGATCACATT	0.559																																						.											0																																												100287102			AM992871		1p36.33	2012-02-23	2012-02-23		ENSG00000223972	ENSG00000223972			37102	pseudogene	pseudogene			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 1"""			19476624	Standard	NR_046018		Approved		uc010nxq.1		OTTHUMG00000000961		1.37:g.13418_13421dupGAGA		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	INS	ENST00000456328.2	37																																																																																					0.559	DDX11L1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000362751.1		
EFTUD1P1	648809	broad.mit.edu	37	15	84790370	84790371	+	IGR	INS	-	-	A			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr15:84790370_84790371insA								EFTUD1P1 (7942 upstream) : RP13-262C2.3 (49558 downstream)																							GAAGAGGAAAGAAAATTTTTGT	0.401																																						.											0																																										SO:0001628	intergenic_variant	648809																															15.37:g.84790374_84790374dupA		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	INS		37																																																																																				0	0.401								
GPC1	2817	broad.mit.edu	37	2	241390113	241390114	+	Intron	INS	-	-	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr2:241390113_241390114insC	ENST00000264039.2	+	2	414				AC110619.2_ENST00000404891.1_3'UTR|AC110619.2_ENST00000404327.3_Frame_Shift_Ins_p.R98fs	NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1						axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|myelin assembly (GO:0032288)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|phototransduction, visible light (GO:0007603)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|retinoid metabolic process (GO:0001523)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|laminin binding (GO:0043236)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		GGGGTGTGGCTCGTGGGCCATG	0.629																																						.											0																																										SO:0001627	intron_variant	0			AK095397	CCDS2534.1	2q35-q37	2008-02-05			ENSG00000063660	ENSG00000063660		"""Proteoglycans / Cell Surface : Glypicans"""	4449	protein-coding gene	gene with protein product	"""glypican proteoglycan 1"""	600395				7774946	Standard	NM_002081		Approved	glypican	uc002vyw.4	P35052	OTTHUMG00000133349	ENST00000264039.2:c.167-8333->C	2.37:g.241390114_241390114dupC		Somatic		WXS	Illumina HiSeq	Phase_I	B3KTD1|Q53QM4	RNA	INS	ENST00000264039.2	37	CCDS2534.1																																																																																				0.629	GPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257179.3	NM_002081	
ADAMTS19	171019	ucsc.edu	37	5	128990039	128990039	+	Silent	SNP	A	A	G			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr5:128990039A>G	ENST00000274487.4	+	14	2344	c.2199A>G	c.(2197-2199)gaA>gaG	p.E733E	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	733	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TTGGAAAAGAACAGCCTATTC	0.368																																						.											0													94.0	98.0	97.0					5																	128990039		2203	4300	6503	SO:0001819	synonymous_variant	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2199A>G	5.37:g.128990039A>G		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000274487.4	37	CCDS4146.1																																																																																				0.368	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638	
COPS3	8533	ucsc.edu	37	17	17184462	17184462	+	Silent	SNP	T	T	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr17:17184462T>C	ENST00000268717.5	-	1	145	c.39A>G	c.(37-39)cgA>cgG	p.R13R	COPS3_ENST00000439936.2_5'Flank|COPS3_ENST00000539941.2_5'Flank	NM_003653.3	NP_003644.2	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	13					cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CTGAGAGCTGTCGGACACTGT	0.692																																						.											0													38.0	36.0	37.0					17																	17184462		2201	4299	6500	SO:0001819	synonymous_variant	8533			AF031647	CCDS11183.1, CCDS56022.1	17p11.2	2013-03-14	2013-03-14		ENSG00000141030	ENSG00000141030			2239	protein-coding gene	gene with protein product		604665	"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 3"", ""COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis)"""			9535219, 10191102	Standard	NM_003653		Approved	SGN3, CSN3	uc002grd.3	Q9UNS2	OTTHUMG00000059281	ENST00000268717.5:c.39A>G	17.37:g.17184462T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B2R683|B4DY81|O43191|Q7LDR6	Silent	SNP	ENST00000268717.5	37	CCDS11183.1																																																																																				0.692	COPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131603.2		
GOLGA8B	440270	ucsc.edu	37	15	34819940	34819940	+	Missense_Mutation	SNP	G	G	C	rs2615360	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr15:34819940G>C	ENST00000342314.5	-	16	1802	c.1705C>G	c.(1705-1707)Ctg>Gtg	p.L569V	MIR1233-2_ENST00000408138.1_RNA|GOLGA8B_ENST00000438958.2_Missense_Mutation_p.L599V|GOLGA8B_ENST00000267731.7_Missense_Mutation_p.L569V|GOLGA8A_ENST00000543376.1_Intron	NM_001023567.4	NP_001018861.3	A8MQT2	GOG8B_HUMAN	golgin A8 family, member B	569	Golgi-targeting domain.			L -> V (in Ref. 1; AAF40308 and 2; AAF34136). {ECO:0000305}.		Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(1)	1		all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		AGGAGCTGCAGGACTGGCTGT	0.592													c|||	687	0.137181	0.2027	0.1902	5008	,	,		7607	0.0734		0.1143	False		,,,				2504	0.1002					.											0													36.0	45.0	42.0					15																	34819940		1316	3386	4702	SO:0001583	missense	440270			AF164622	CCDS45211.1	15q14	2011-10-25	2010-02-12		ENSG00000215252	ENSG00000215252			31973	protein-coding gene	gene with protein product		609619	"""golgi autoantigen, golgin subfamily a, 8B"""				Standard	NM_001023567		Approved		uc001ziq.3	A8MQT2	OTTHUMG00000129549	ENST00000342314.5:c.1705C>G	15.37:g.34819940G>C	ENSP00000343064:p.Leu569Val	Somatic		WXS	Illumina HiSeq	Phase_I	A6NLZ2|O94937|Q2M3S9|Q9NZG8|Q9NZW0|Q9NZW3	Missense_Mutation	SNP	ENST00000342314.5	37	CCDS45211.1	236	0.10805860805860806	65	0.13211382113821138	36	0.09944751381215469	59	0.10314685314685315	76	0.10026385224274406	N	0.004	-2.348606	0.00219	.	.	ENSG00000215252	ENST00000342314;ENST00000267731;ENST00000438958;ENST00000268079	T;T;T	0.24538	1.85;1.85;1.85	1.48	-1.31	0.09230	.	.	.	.	.	T	0.00073	0.0002	N	0.01515	-0.825	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.25847	-1.0120	8	0.02654	T	1	.	3.4826	0.07607	0.0:0.1792:0.225:0.5958	.	425;569	B7ZMK6;A8MQT2	.;GOG8B_HUMAN	V	569;569;599;460	ENSP00000343064:L569V;ENSP00000267731:L569V;ENSP00000400063:L599V	ENSP00000267731:L569V	L	-	1	2	GOLGA8B	32607232	1.000000	0.71417	0.029000	0.17559	0.001000	0.01503	1.699000	0.37804	-0.989000	0.03485	-3.440000	0.00036	CTG		0.592	GOLGA8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251739.2	NM_001023567	
LTBP2	4053	ucsc.edu	37	14	74995365	74995365	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr14:74995365T>C	ENST00000261978.4	-	12	2575	c.2189A>G	c.(2188-2190)tAc>tGc	p.Y730C	LTBP2_ENST00000556690.1_Missense_Mutation_p.Y730C	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	730					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CGCGTAGGTGTAGCCGTGGCC	0.627																																						.											0													39.0	39.0	39.0					14																	74995365		2203	4299	6502	SO:0001583	missense	4053				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.2189A>G	14.37:g.74995365T>C	ENSP00000261978:p.Tyr730Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.429018	0.83667	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.91180	-2.8;-2.8	5.54	5.54	0.83059	Matrix fibril-associated (2);	0.000000	0.38164	N	0.001785	D	0.92028	0.7474	L	0.34521	1.04	0.47659	D	0.999489	D	0.89917	1.0	D	0.87578	0.998	D	0.92040	0.5640	10	0.49607	T	0.09	.	13.3018	0.60330	0.0:0.0:0.0:1.0	.	730	Q14767	LTBP2_HUMAN	C	730	ENSP00000261978:Y730C;ENSP00000451477:Y730C	ENSP00000261978:Y730C	Y	-	2	0	LTBP2	74065118	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	6.853000	0.75435	2.326000	0.78906	0.533000	0.62120	TAC		0.627	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428	
MCF2L	23263	ucsc.edu;bcgsc.ca	37	13	113750740	113750740	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr13:113750740T>C	ENST00000375608.3	+	29	3279	c.3221T>C	c.(3220-3222)cTg>cCg	p.L1074P	MCF2L_ENST00000421756.1_Missense_Mutation_p.L1048P|MCF2L_ENST00000375601.3_Missense_Mutation_p.L1048P|MCF2L_ENST00000397030.1_Missense_Mutation_p.L1077P|MCF2L_ENST00000442652.2_Missense_Mutation_p.L1074P|MCF2L_ENST00000375604.2_Missense_Mutation_p.L1101P|MCF2L_ENST00000423482.2_Missense_Mutation_p.L1042P|MCF2L_ENST00000535094.2_Missense_Mutation_p.L1044P|MCF2L_ENST00000434480.2_Missense_Mutation_p.L1050P			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	1074	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CCCGATGCGCTGCGCGTGAGG	0.706																																						.											0													22.0	33.0	30.0					13																	113750740		1558	3575	5133	SO:0001583	missense	23263			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.3221T>C	13.37:g.113750740T>C	ENSP00000364758:p.Leu1074Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.63|18.63	3.664825|3.664825	0.67700|0.67700	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000261963;ENST00000420013|ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000440749	.|T;T;T;T;T;T;T;T;T	.|0.50277	.|1.88;1.88;1.88;0.75;1.88;0.75;1.88;1.88;1.88	5.14|5.14	3.97|3.97	0.46021|0.46021	.|Src homology-3 domain (3);Variant SH3 (1);	.|0.234273	.|0.36134	.|N	.|0.002773	T|T	0.74145|0.74145	0.3678|0.3678	H|H	0.94462|0.94462	3.54|3.54	0.44123|0.44123	D|D	0.996903|0.996903	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.80764	.|0.99;0.99;0.99;0.994	T|T	0.78132|0.78132	-0.2323|-0.2323	5|10	.|0.87932	.|D	.|0	.|.	9.842|9.842	0.41004|0.41004	0.0:0.0811:0.0:0.9189|0.0:0.0811:0.0:0.9189	.|.	.|1042;1044;1101;1074	.|E9PDN8;O15068-9;G5E9A1;O15068	.|.;.;.;MCF2L_HUMAN	R|P	215;116|1074;1074;1101;1077;1044;1048;1048;1050;1042;885	.|ENSP00000364758:L1074P;ENSP00000401422:L1074P;ENSP00000364754:L1101P;ENSP00000380225:L1077P;ENSP00000440374:L1044P;ENSP00000397285:L1048P;ENSP00000364751:L1048P;ENSP00000407722:L1050P;ENSP00000405639:L1042P	.|ENSP00000364751:L1048P	C|L	+|+	1|2	0|0	MCF2L|MCF2L	112798741|112798741	1.000000|1.000000	0.71417|0.71417	0.002000|0.002000	0.10522|0.10522	0.005000|0.005000	0.04900|0.04900	5.360000|5.360000	0.66086|0.66086	0.808000|0.808000	0.34231|0.34231	0.460000|0.460000	0.39030|0.39030	TGC|CTG		0.706	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4		
MTMR3	8897	ucsc.edu	37	22	30418651	30418651	+	Silent	SNP	T	T	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr22:30418651T>C	ENST00000401950.2	+	19	3732	c.3390T>C	c.(3388-3390)agT>agC	p.S1130S	MTMR3_ENST00000333027.3_Silent_p.S1093S|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000323630.5_Silent_p.S994S|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Silent_p.S1093S|MTMR3_ENST00000351488.3_Silent_p.S1093S	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	1130					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CGTGCGACAGTGCCTTCTGGC	0.607																																						.											0													77.0	58.0	65.0					22																	30418651		2203	4300	6503	SO:0001819	synonymous_variant	8897			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.3390T>C	22.37:g.30418651T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	ENST00000401950.2	37	CCDS13870.1																																																																																				0.607	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090	
NUPL2	11097	ucsc.edu	37	7	23221811	23221811	+	Missense_Mutation	SNP	A	A	G	rs145987368	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr7:23221811A>G	ENST00000258742.5	+	1	366	c.107A>G	c.(106-108)cAg>cGg	p.Q36R	NUPL2_ENST00000487595.1_3'UTR|NUPL2_ENST00000410002.3_Missense_Mutation_p.Q36R|AC005082.1_ENST00000366347.4_Intron	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	36					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGCAACCGCAGCAGCAGCCT	0.642																																						.											0													51.0	41.0	45.0					7																	23221811		2203	4300	6503	SO:0001583	missense	11097			U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"""nucleoporin-like protein 1"""					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.107A>G	7.37:g.23221811A>G	ENSP00000258742:p.Gln36Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A4D143|B4DP42|Q49AE7|Q9BS49	Missense_Mutation	SNP	ENST00000258742.5	37	CCDS5379.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.429312	0.25726	.	.	ENSG00000136243	ENST00000258742;ENST00000410002;ENST00000413919	T;T;T	0.43688	0.94;0.94;0.94	3.37	-0.0117	0.13991	.	0.351400	0.30093	N	0.010424	T	0.29355	0.0731	L	0.56769	1.78	0.09310	N	1	B	0.32160	0.358	B	0.32805	0.153	T	0.12192	-1.0557	10	0.30854	T	0.27	0.0757	1.0493	0.01576	0.3687:0.3359:0.1191:0.1763	.	36	O15504	NUPL2_HUMAN	R	36	ENSP00000258742:Q36R;ENSP00000387330:Q36R;ENSP00000401475:Q36R	ENSP00000258742:Q36R	Q	+	2	0	NUPL2	23188336	0.739000	0.28196	0.001000	0.08648	0.061000	0.15899	0.682000	0.25335	-0.130000	0.11599	0.533000	0.62120	CAG		0.642	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342	
SLC4A10	57282	ucsc.edu;mdanderson.org;bcgsc.ca	37	2	162757484	162757484	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr2:162757484G>A	ENST00000446997.1	+	12	1498	c.1405G>A	c.(1405-1407)Gga>Aga	p.G469R	SLC4A10_ENST00000272716.5_Missense_Mutation_p.G439R|SLC4A10_ENST00000415876.2_Missense_Mutation_p.G439R|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000375514.5_Missense_Mutation_p.G450R|SLC4A10_ENST00000421911.1_Missense_Mutation_p.G469R|SLC4A10_ENST00000535165.1_3'UTR	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	469					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	AGAGCCCCACGGAGGACATAG	0.458																																						.											0													46.0	52.0	50.0					2																	162757484		1953	4133	6086	SO:0001583	missense	57282				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1405G>A	2.37:g.162757484G>A	ENSP00000393066:p.Gly469Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960298	0.34565	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.31;-1.31	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.85553	0.5723	M	0.61703	1.905	0.58432	D	0.999999	D;B;D;P	0.53619	0.961;0.1;0.961;0.773	P;B;P;B	0.57548	0.823;0.023;0.823;0.14	T	0.81123	-0.1076	10	0.14252	T	0.57	.	19.2477	0.93909	0.0:0.0:1.0:0.0	.	450;469;439;469	F8W675;E7EW28;Q6U841-2;Q6U841	.;.;.;S4A10_HUMAN	R	450;439;439;438;469;469;468	ENSP00000364664:G450R;ENSP00000395797:G439R;ENSP00000272716:G439R;ENSP00000393066:G469R;ENSP00000404486:G469R	ENSP00000272716:G439R	G	+	1	0	SLC4A10	162465730	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.787000	0.85759	2.628000	0.89032	0.655000	0.94253	GGA		0.458	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058	
STK32C	282974	ucsc.edu	37	10	134121101	134121101	+	Intron	SNP	C	C	T			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr10:134121101C>T	ENST00000368625.4	-	1	387				STK32C_ENST00000368622.1_5'Flank					serine/threonine kinase 32C											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CAAACACCGGCCTCCGCGCGG	0.706																																						.											0													24.0	28.0	26.0					10																	134121101		2164	4242	6406	SO:0001627	intron_variant	282974			AK057849	CCDS7666.1	10q26.3	2004-07-22			ENSG00000165752	ENSG00000165752			21332	protein-coding gene	gene with protein product							Standard	NM_173575		Approved	PKE, MGC23665, YANK3	uc001lle.1	Q86UX6	OTTHUMG00000019285	ENST00000368625.4:c.301+23838G>A	10.37:g.134121101C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000368625.4	37																																																																																					0.706	STK32C-201	KNOWN	basic	protein_coding	protein_coding		NM_173575	
ZNF575	284346	ucsc.edu	37	19	44039421	44039421	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr19:44039421C>T	ENST00000314228.5	+	4	832	c.320C>T	c.(319-321)gCa>gTa	p.A107V	ZNF575_ENST00000601282.1_Missense_Mutation_p.A107V|ZNF575_ENST00000458714.2_Missense_Mutation_p.A206V	NM_174945.2	NP_777605.1	Q86XF7	ZN575_HUMAN	zinc finger protein 575	107					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4		Prostate(69;0.0199)				TCCAAGCTGGCAGCCCACCGC	0.706																																						.											0													32.0	29.0	30.0					19																	44039421		2203	4298	6501	SO:0001583	missense	284346			BC043611	CCDS12623.1	19q13.31	2013-09-20			ENSG00000176472	ENSG00000176472		"""Zinc fingers, C2H2-type"""	27606	protein-coding gene	gene with protein product							Standard	NM_174945		Approved	FLJ32567	uc002ows.3	Q86XF7	OTTHUMG00000182698	ENST00000314228.5:c.320C>T	19.37:g.44039421C>T	ENSP00000315870:p.Ala107Val	Somatic		WXS	Illumina HiSeq	Phase_I	B4DX54	Missense_Mutation	SNP	ENST00000314228.5	37	CCDS12623.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204548	0.58234	.	.	ENSG00000176472	ENST00000458714;ENST00000314228	T;T	0.16897	2.31;2.31	4.28	4.28	0.50868	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43747	D	0.000534	T	0.18215	0.0437	N	0.16066	0.365	0.20074	N	0.999934	P;D	0.57257	0.901;0.979	P;P	0.58391	0.702;0.838	T	0.07462	-1.0771	10	0.33141	T	0.24	-9.5726	10.7008	0.45926	0.0:0.8056:0.1944:0.0	.	107;206	Q86XF7;B3KQ07	ZN575_HUMAN;.	V	206;107	ENSP00000413956:A206V;ENSP00000315870:A107V	ENSP00000315870:A107V	A	+	2	0	ZNF575	48731261	0.000000	0.05858	0.997000	0.53966	0.991000	0.79684	-0.915000	0.04033	2.119000	0.64992	0.650000	0.86243	GCA		0.706	ZNF575-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463191.1	NM_174945	
ZNF668	79759	ucsc.edu	37	16	31072996	31072996	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr16:31072996T>C	ENST00000538906.1	-	3	2037	c.1253A>G	c.(1252-1254)gAg>gGg	p.E418G	ZNF668_ENST00000539836.3_Missense_Mutation_p.E441G|ZNF668_ENST00000417110.2_Missense_Mutation_p.S62P|ZNF668_ENST00000300849.4_Missense_Mutation_p.E418G|ZNF668_ENST00000426488.2_Missense_Mutation_p.E441G|ZNF668_ENST00000535577.1_Missense_Mutation_p.E418G|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000394983.2_Missense_Mutation_p.E418G	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	418					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						ACCCGCGGCCTCACTGCTTCG	0.682																																					Colon(181;1111 1980 5060 10512 25785)	.											0													64.0	71.0	68.0					16																	31072996		2197	4300	6497	SO:0001583	missense	79759				CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1253A>G	16.37:g.31072996T>C	ENSP00000440149:p.Glu418Gly	Somatic		WXS	Illumina HiSeq	Phase_I	C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	CCDS10701.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.15|13.15	2.150724|2.150724	0.37923|0.37923	.|.	.|.	ENSG00000167394|ENSG00000232748	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849|ENST00000417110	T;T;T;T;T|.	0.08282|.	3.11;3.11;3.11;3.11;3.11|.	4.84|4.84	4.84|4.84	0.62591|0.62591	Zinc finger, C2H2 (1);|.	0.349788|.	0.28465|.	N|.	0.015244|.	T|T	0.39860|0.39860	0.1094|0.1094	N|N	0.08118|0.08118	0|0	0.39968|0.39968	D|D	0.974752|0.974752	B|.	0.29716|.	0.255|.	B|.	0.23852|.	0.049|.	T|T	0.50508|0.50508	-0.8820|-0.8820	10|6	0.72032|0.87932	D|D	0.01|0	-28.8773|-28.8773	10.7371|10.7371	0.46130|0.46130	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	418|.	Q96K58|.	ZN668_HUMAN|.	G|P	441;418;418;418;418|62	ENSP00000442573:E441G;ENSP00000441349:E418G;ENSP00000440149:E418G;ENSP00000378434:E418G;ENSP00000300849:E418G|.	ENSP00000300849:E418G|ENSP00000391989:S62P	E|S	-|+	2|1	0|0	ZNF668|AC135050.1	30980497|30980497	0.003000|0.003000	0.15002|0.15002	1.000000|1.000000	0.80357|0.80357	0.698000|0.698000	0.40448|0.40448	-1.098000|-1.098000	0.03346|0.03346	2.048000|2.048000	0.60808|0.60808	0.379000|0.379000	0.24179|0.24179	GAG|TCA		0.682	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706	
ADAMTS7	11173	mdanderson.org	37	15	79058378	79058378	+	Missense_Mutation	SNP	A	A	G	rs201462332		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr15:79058378A>G	ENST00000388820.4	-	19	4085	c.3875T>C	c.(3874-3876)cTc>cCc	p.L1292P	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1292					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGGAGGAAGGAGAGAAGCCAC	0.647																																						.											0													16.0	17.0	17.0					15																	79058378		2120	4172	6292	SO:0001583	missense	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3875T>C	15.37:g.79058378A>G	ENSP00000373472:p.Leu1292Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	a	2.158	-0.392791	0.04899	.	.	ENSG00000136378	ENST00000388820	T	0.59224	0.28	3.75	-1.46	0.08800	.	0.736535	0.11836	N	0.524771	T	0.26376	0.0644	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19976	-1.0289	10	0.17832	T	0.49	.	7.6255	0.28210	0.4543:0.0:0.5457:0.0	.	1292	Q9UKP4	ATS7_HUMAN	P	1292	ENSP00000373472:L1292P	ENSP00000373472:L1292P	L	-	2	0	ADAMTS7	76845433	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.278000	0.08490	-0.638000	0.05509	-1.242000	0.01536	CTC		0.647	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272	
AHNAK2	113146	mdanderson.org	37	14	105412347	105412347	+	Silent	SNP	C	C	T	rs55842266	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr14:105412347C>T	ENST00000333244.5	-	7	9560	c.9441G>A	c.(9439-9441)aaG>aaA	p.K3147K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3147						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCATCTTGAACTTGGGCATTT	0.602													.|||	305	0.0609026	0.0106	0.0778	5008	,	,		16789	0.0109		0.1491	False		,,,				2504	0.0777					.											0													199.0	143.0	161.0					14																	105412347		1924	4066	5990	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9441G>A	14.37:g.105412347C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
ANKRD20A5P	440482	mdanderson.org	37	18	14184079	14184079	+	RNA	SNP	A	A	C	rs3897592		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr18:14184079A>C	ENST00000581935.1	+	0	768							A0PJZ0	A20A5_HUMAN	ankyrin repeat domain 20 family, member A5, pseudogene											lung(3)	3						TTCCATGGTGAAAATATTGAA	0.368																																						.											0													104.0	113.0	110.0					18																	14184079		2202	4299	6501			440482			BC022023		18p11.21	2011-06-01	2011-06-01	2011-06-01	ENSG00000186481	ENSG00000186481			33833	pseudogene	pseudogene			"""ankyrin repeat domain 20 family, member A5"""	ANKRD20A5			Standard	NR_040113		Approved	MGC26718	uc010xag.2	A0PJZ0	OTTHUMG00000157172		18.37:g.14184079A>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q4G1B6	RNA	SNP	ENST00000581935.1	37																																																																																					0.368	ANKRD20A5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000442833.1		
ATAD3A	55210	mdanderson.org	37	1	1455652	1455652	+	Missense_Mutation	SNP	G	G	T	rs2767471	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr1:1455652G>T	ENST00000378755.5	+	6	884	c.790G>T	c.(790-792)Gcc>Tcc	p.A264S	ATAD3A_ENST00000378756.3_Missense_Mutation_p.A216S|ATAD3A_ENST00000536055.1_Missense_Mutation_p.A137S	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	264					cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.A264S(4)		endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	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)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		CCTGAAGGCGGCCGAGCACCG	0.682																																						.											4	Substitution - Missense(4)	kidney(4)											53.0	52.0	52.0					1																	1455652		2203	4300	6503	SO:0001583	missense	55210			AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"""ATPases / AAA-type"""	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.790G>T	1.37:g.1455652G>T	ENSP00000368030:p.Ala264Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Missense_Mutation	SNP	ENST00000378755.5	37	CCDS31.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	9.081|9.081	0.999324|0.999324	0.19121|0.19121	.|.	.|.	ENSG00000197785|ENSG00000197785	ENST00000378756;ENST00000378755;ENST00000536055;ENST00000429957|ENST00000339113	D;T;D|.	0.94457|.	-2.51;1.42;-3.43|.	4.43|4.43	3.44|3.44	0.39384|0.39384	ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523 (1);|.	0.054326|.	0.64402|.	D|.	0.000001|.	T|T	0.48333|0.48333	0.1494|0.1494	N|N	0.20766|0.20766	0.605|0.605	0.52501|0.52501	D|D	0.999956|0.999956	B;B|.	0.14805|.	0.0;0.011|.	B;B|.	0.18263|.	0.007;0.021|.	T|T	0.40997|0.40997	-0.9533|-0.9533	10|5	0.07990|.	T|.	0.79|.	.|.	13.2731|13.2731	0.60172|0.60172	0.0:0.0:0.8418:0.1582|0.0:0.0:0.8418:0.1582	rs2767471|rs2767471	216;264|.	D2K8Q1;Q9NVI7|.	.;ATD3A_HUMAN|.	S|V	216;264;137;98|201	ENSP00000368031:A216S;ENSP00000368030:A264S;ENSP00000439290:A137S|.	ENSP00000368030:A264S|.	A|G	+|+	1|2	0|0	ATAD3A|ATAD3A	1445515|1445515	1.000000|1.000000	0.71417|0.71417	0.501000|0.501000	0.27601|0.27601	0.170000|0.170000	0.22686|0.22686	7.461000|7.461000	0.80834|0.80834	2.162000|2.162000	0.67917|0.67917	0.561000|0.561000	0.74099|0.74099	GCC|GGC		0.682	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1	NM_018188	
CCDC74A	90557	mdanderson.org	37	2	132285919	132285919	+	Intron	SNP	G	G	A	rs540484186	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr2:132285919G>A	ENST00000295171.6	+	1	388				CCDC74A_ENST00000478665.1_3'UTR|CCDC74A_ENST00000467992.2_5'Flank|CCDC74A_ENST00000409856.3_Intron	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A											endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AACACAGGACGGTAAGCCCGC	0.687													a|||	68	0.0135783	0.0363	0.0072	5008	,	,		14144	0.006		0.008	False		,,,				2504	0.001					.											0																																										SO:0001627	intron_variant	90557				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.250+126G>A	2.37:g.132285919G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	CCDS2167.1																																																																																				0.687	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770	
CEACAM6	4680	mdanderson.org	37	19	42260742	42260742	+	Missense_Mutation	SNP	C	C	T	rs141329594	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr19:42260742C>T	ENST00000199764.6	+	2	517	c.299C>T	c.(298-300)aCa>aTa	p.T100I	CEA_ENST00000598976.1_Intron|AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	100	Ig-like V-type.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		GGTCGAGAGACAATATACCCC	0.453																																						.											0								C	ILE/THR	4,4402	4.2+/-10.8	0,4,2199	314.0	297.0	303.0		299	-0.5	0.7	19	dbSNP_134	303	5,8595	2.2+/-6.3	0,5,4295	no	missense	CEACAM6	NM_002483.4	89	0,9,6494	TT,TC,CC		0.0581,0.0908,0.0692	benign	100/345	42260742	9,12997	2203	4300	6503	SO:0001583	missense	4680			M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.299C>T	19.37:g.42260742C>T	ENSP00000199764:p.Thr100Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q13774|Q14920|Q53XP7	Missense_Mutation	SNP	ENST00000199764.6	37	CCDS12585.1	.	.	.	.	.	.	.	.	.	.	C	7.727	0.698352	0.15106	9.08E-4	5.81E-4	ENSG00000086548	ENST00000199764	T	0.68479	-0.33	2.55	-0.464	0.12160	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.48429	0.1499	L	0.31752	0.955	0.09310	N	1	B	0.14805	0.011	B	0.16722	0.016	T	0.38001	-0.9681	9	0.46703	T	0.11	.	3.8844	0.09091	0.2271:0.612:0.0:0.1609	.	100	P40199	CEAM6_HUMAN	I	100	ENSP00000199764:T100I	ENSP00000199764:T100I	T	+	2	0	CEACAM6	46952582	0.002000	0.14202	0.736000	0.30914	0.051000	0.14879	-0.871000	0.04223	0.158000	0.19367	0.305000	0.20034	ACA		0.453	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1		
CELA3B	23436	mdanderson.org	37	1	22310235	22310235	+	Silent	SNP	C	C	T	rs113497474	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr1:22310235C>T	ENST00000337107.6	+	5	430	c.411C>T	c.(409-411)gaC>gaT	p.D137D		NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	137	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						AGCTGGGAGACGCCGTCCAGC	0.647													C|||	21	0.00419329	0.0129	0.0043	5008	,	,		18994	0.0		0.001	False		,,,				2504	0.0					.											0								C		70,4336	59.9+/-96.7	0,70,2133	107.0	90.0	96.0		411	-6.6	0.0	1	dbSNP_132	96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CELA3B	NM_007352.2		0,71,6432	TT,TC,CC		0.0116,1.5887,0.5459		137/271	22310235	71,12935	2203	4300	6503	SO:0001819	synonymous_variant	23436			M18692	CCDS219.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000219073	ENSG00000219073	3.4.21.70		15945	protein-coding gene	gene with protein product	"""proteinase E"", ""elastase 1"", ""cholesterol-binding pancreatic protease"", ""pancreatic endopeptidase E"""		"""elastase 3B, pancreatic"""	ELA3B		2826474, 2460440	Standard	NM_007352		Approved	CBPP	uc001bfk.3	P08861	OTTHUMG00000002758	ENST00000337107.6:c.411C>T	1.37:g.22310235C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RE44|P11423|Q5VU28|Q5VU29|Q5VU30	Silent	SNP	ENST00000337107.6	37	CCDS219.1																																																																																				0.647	CELA3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007797.1	NM_007352	
DDX12P	440081	mdanderson.org	37	12	9580293	9580293	+	IGR	SNP	A	A	G	rs200454162	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr12:9580293A>G								RP13-735L24.1 (30080 upstream) : SNORA75 (17360 downstream)														p.M473T(1)									CTTCAGCTCCATCCCTGAGAA	0.502																																						.											1	Substitution - Missense(1)	urinary_tract(1)											245.0	224.0	230.0					12																	9580293		692	1591	2283	SO:0001628	intergenic_variant	440081																															12.37:g.9580293A>G		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP		37																																																																																				0	0.502								
FAM182B	728882	mdanderson.org	37	20	25755527	25755527	+	Silent	SNP	G	G	A	rs199613392	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr20:25755527G>A	ENST00000376403.1	-	3	807	c.429C>T	c.(427-429)agC>agT	p.S143S	FAM182B_ENST00000376404.2_Intron|FAM182B_ENST00000478164.1_Intron			Q5T319	F182B_HUMAN	family with sequence similarity 182, member B	143										lung(1)	1						CATGCTGCCCGCTGGTCAGCC	0.706																																						.											0																																										SO:0001819	synonymous_variant	728882					20p11.1	2010-07-14			ENSG00000175170	ENSG00000175170			34503	pseudogene	pseudogene							Standard	NR_027061		Approved			Q5T319	OTTHUMG00000032136	ENST00000376403.1:c.429C>T	20.37:g.25755527G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q4G0Q1	RNA	SNP	ENST00000376403.1	37																																																																																					0.706	FAM182B-003	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000078463.2	NR_026714	
FCGR3A	2214	mdanderson.org	37	1	161512959	161512959	+	Missense_Mutation	SNP	A	A	G	rs1042206		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr1:161512959A>G	ENST00000436743.1	-	6	762	c.608T>C	c.(607-609)tTt>tCt	p.F203S	FCGR3A_ENST00000367969.3_Missense_Mutation_p.F239S|FCGR3A_ENST00000540048.1_Missense_Mutation_p.F203S|RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000476031.1_5'Flank|FCGR3A_ENST00000443193.1_Missense_Mutation_p.F238S	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	203			F -> S (in dbSNP:rs1042206).		Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCCAGGTGGAAAGAATGATGA	0.418													A|||	1	0.000199681	0.0	0.0	5008	,	,		24338	0.0		0.0	False		,,,				2504	0.001					.											0													124.0	125.0	125.0					1																	161512959		2203	4300	6503	SO:0001583	missense	2214			BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.608T>C	1.37:g.161512959A>G	ENSP00000416607:p.Phe203Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000436743.1	37	CCDS44266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.927|8.927	0.962495|0.962495	0.18583|0.18583	.|.	.|.	ENSG00000203747|ENSG00000203747	ENST00000426740|ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048	T|T;T;T;T;T	0.01313|0.01397	5.02|4.94;4.94;4.98;4.98;4.98	4.44|4.44	-0.886|-0.886	0.10590|0.10590	.|.	4.095920|4.095920	0.00633|0.00633	N|N	0.000493|0.000493	T|T	0.00468|0.00468	0.0015|0.0015	L|L	0.35793|0.35793	1.09|1.09	0.80722|0.80722	P|P	0.0|0.0	.|P;P	.|0.44734	.|0.842;0.842	.|B;B	.|0.39531	.|0.24;0.302	T|T	0.47209|0.47209	-0.9135|-0.9135	7|9	0.02654|0.23891	T|T	1|0.37	.|.	3.2975|3.2975	0.06971|0.06971	0.5023:0.0:0.3197:0.178|0.5023:0.0:0.3197:0.178	rs1042206;rs3181666|rs1042206;rs3181666	.|203;238	.|P08637;E9PG94	.|FCG3A_HUMAN;.	L|S	220|239;238;203;203;203	ENSP00000410180:F220L|ENSP00000356946:F239S;ENSP00000392047:F238S;ENSP00000416607:F203S;ENSP00000356944:F203S;ENSP00000444971:F203S	ENSP00000410180:F220L|ENSP00000356944:F203S	F|F	-|-	1|2	0|0	FCGR3A|FCGR3A	159779583|159779583	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.013000|0.013000	0.08279|0.08279	-0.112000|-0.112000	0.10791|0.10791	-0.054000|-0.054000	0.13266|0.13266	0.482000|0.482000	0.46254|0.46254	TTC|TTT		0.418	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569	
FRG1B	284802	mdanderson.org	37	20	29624054	29624055	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr20:29624054_29624055TC>AA	ENST00000278882.3	+	4	458_459	c.78_79TC>AA	c.(76-81)ccTCca>ccAAca	p.P27T	FRG1B_ENST00000358464.4_Missense_Mutation_p.P27T|FRG1B_ENST00000439954.2_Missense_Mutation_p.P32T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	27										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GCCCTAGTCCTCCAGAGCAGTT	0.277																																						.											0																																										SO:0001583	missense	284802					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	Exception_encountered	20.37:g.29624054_29624055delinsAA	ENSP00000278882:p.Pro27Thr	Somatic		WXS	Illumina HiSeq	Phase_I	C4AME5	RNA	DNP	ENST00000278882.3	37																																																																																					0.277	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
FRG1	2483	mdanderson.org	37	4	190876272	190876272	+	Missense_Mutation	SNP	G	G	A	rs202104107		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr4:190876272G>A	ENST00000226798.4	+	5	620	c.398G>A	c.(397-399)gGa>gAa	p.G133E	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	133					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GATGCAATTGGACCAAGAGAA	0.363																																						.											0													90.0	90.0	90.0					4																	190876272		2203	4300	6503	SO:0001583	missense	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.398G>A	4.37:g.190876272G>A	ENSP00000226798:p.Gly133Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	23.5	4.419225	0.83559	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.63417	1.82;-0.04	4.04	4.04	0.47022	Actin cross-linking (1);	0.047717	0.85682	D	0.000000	T	0.75810	0.3900	M	0.87900	2.915	0.80722	D	1	P	0.50156	0.932	P	0.53401	0.725	T	0.81885	-0.0727	10	0.72032	D	0.01	5.2981	14.145	0.65344	0.0:0.0:1.0:0.0	.	133	Q14331	FRG1_HUMAN	E	133;70	ENSP00000226798:G133E;ENSP00000435943:G70E	ENSP00000226798:G133E	G	+	2	0	FRG1	191113266	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.413000	0.80104	1.964000	0.57103	0.567000	0.79289	GGA		0.363	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477	
FRG1	2483	mdanderson.org	37	4	190876307	190876307	+	Splice_Site	SNP	G	G	A	rs200854715		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr4:190876307G>A	ENST00000226798.4	+	5	654		c.e5+1		FRG1_ENST00000514482.1_Splice_Site	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1						mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		CTTTCAAAATGTAAGTGCTGT	0.328																																						.											0													74.0	74.0	74.0					4																	190876307		2202	4295	6497	SO:0001630	splice_region_variant	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.432+1G>A	4.37:g.190876307G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K775	Splice_Site	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	N	18.80	3.700931	0.68501	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	.	.	.	3.88	3.88	0.44766	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7779	0.63066	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRG1	191113301	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.413000	0.80104	1.879000	0.54435	0.567000	0.79289	.		0.328	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477	Intron
GNAQ	2776	mdanderson.org	37	9	80537112	80537112	+	Missense_Mutation	SNP	T	T	A			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr9:80537112T>A	ENST00000286548.4	-	2	508	c.286A>T	c.(286-288)Aca>Tca	p.T96S		NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	96					action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.T96S(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						ATCTTGAGTGTGTCCATGGCT	0.473			Mis		uveal melanoma																																	.		Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	1	Substitution - Missense(1)	prostate(1)																																								SO:0001583	missense	2776				CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.286A>T	9.37:g.80537112T>A	ENSP00000286548:p.Thr96Ser	Somatic		WXS	Illumina HiSeq	Phase_I	O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	13.12	2.141103	0.37825	.	.	ENSG00000156052	ENST00000286548;ENST00000411677	D;D	0.87809	-2.3;-2.3	5.86	5.86	0.93980	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.84170	0.5413	L	0.52126	1.63	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.79122	-0.1933	10	0.29301	T	0.29	.	16.2652	0.82574	0.0:0.0:0.0:1.0	.	96	P50148	GNAQ_HUMAN	S	96;67	ENSP00000286548:T96S;ENSP00000391501:T67S	ENSP00000286548:T96S	T	-	1	0	GNAQ	79726932	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.145000	0.64839	2.241000	0.73720	0.528000	0.53228	ACA		0.473	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072	
GOLGA6D	653643	mdanderson.org	37	15	75586737	75586737	+	Missense_Mutation	SNP	T	T	C	rs200428716		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr15:75586737T>C	ENST00000434739.3	+	18	2044	c.2003T>C	c.(2002-2004)gTg>gCg	p.V668A	RN7SL327P_ENST00000488659.2_RNA	NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	668						Golgi apparatus (GO:0005794)				kidney(1)|lung(1)	2						GCACCAGGAGTGGCCAGGGAG	0.607																																						.											0													41.0	50.0	47.0					15																	75586737		642	1582	2224	SO:0001583	missense	653643				CCDS45308.1	15q24.2	2013-05-10	2010-02-12	2009-09-04	ENSG00000140478	ENSG00000140478			32204	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6D"""				Standard	NM_001145224		Approved		uc010uma.2	P0CG33	OTTHUMG00000172672	ENST00000434739.3:c.2003T>C	15.37:g.75586737T>C	ENSP00000391085:p.Val668Ala	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000434739.3	37	CCDS45308.1	24	0.01098901098901099	9	0.018292682926829267	7	0.019337016574585635	7	0.012237762237762238	1	0.0013192612137203166	C	2.514	-0.312259	0.05422	.	.	ENSG00000140478	ENST00000434739	T	0.20881	2.04	1.38	-2.75	0.05914	.	.	.	.	.	T	0.03827	0.0108	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22591	-1.0212	9	0.23302	T	0.38	.	1.0217	0.01519	0.2442:0.4003:0.1596:0.1958	.	668	P0CG33	GOG6D_HUMAN	A	668	ENSP00000391085:V668A	ENSP00000391085:V668A	V	+	2	0	GOLGA6D	73373790	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.128000	0.03247	-2.830000	0.00339	-3.450000	0.00036	GTG		0.607	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419798.1	NM_001145224	
GPRIN2	9721	mdanderson.org	37	10	46999601	46999601	+	Missense_Mutation	SNP	G	G	A	rs9422022	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr10:46999601G>A	ENST00000374317.1	+	3	994	c.721G>A	c.(721-723)Gtg>Atg	p.V241M	GPRIN2_ENST00000374314.4_Missense_Mutation_p.V241M	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	241			V -> M (in dbSNP:rs9422022).	VR -> MREVG (in Ref. 1; BAA25440 and 3; AAH11672). {ECO:0000305}.						breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CATGAGGGAGGTGAGGGCTGG	0.632													G|||	32	0.00638978	0.0023	0.0014	5008	,	,		31210	0.0139		0.0109	False		,,,				2504	0.0031					.											0													51.0	53.0	53.0					10																	46999601		2203	4299	6502	SO:0001583	missense	9721			BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.721G>A	10.37:g.46999601G>A	ENSP00000363436:p.Val241Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	CCDS31192.1	786	0.3598901098901099	179	0.3638211382113821	126	0.34806629834254144	219	0.38286713286713286	262	0.34564643799472294	G	3.183	-0.167470	0.06461	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03496	3.91;3.91	5.12	-1.64	0.08318	.	1.524420	0.04254	N	0.339078	T	0.00012	0.0000	L	0.34521	1.04	0.09310	N	1	B	0.15473	0.013	B	0.09377	0.004	T	0.46978	-0.9152	10	0.27082	T	0.32	0.3266	1.758	0.02986	0.326:0.1295:0.4122:0.1323	rs9422022	241	O60269	GRIN2_HUMAN	M	241	ENSP00000363436:V241M;ENSP00000363433:V241M	ENSP00000363433:V241M	V	+	1	0	GPRIN2	46419607	0.099000	0.21834	0.004000	0.12327	0.003000	0.03518	0.140000	0.16056	-0.217000	0.10033	-0.498000	0.04607	GTG		0.632	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696	
KRTAP5-4	387267	mdanderson.org	37	11	1643049	1643049	+	Missense_Mutation	SNP	A	A	C	rs200027081		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr11:1643049A>C	ENST00000399682.1	-	1	319	c.275T>G	c.(274-276)gTc>gGc	p.V92G		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.V92G(2)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCACAGGAGACACAGCCCCC	0.682																																						.											2	Substitution - Missense(2)	endometrium(2)																																								SO:0001583	missense	387267			AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.275T>G	11.37:g.1643049A>C	ENSP00000382590:p.Val92Gly	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000399682.1	37		.	.	.	.	.	.	.	.	.	.	a	0.045	-1.268581	0.01433	.	.	ENSG00000241598	ENST00000399682;ENST00000328953	T	0.00678	5.87	1.97	1.02	0.19986	.	.	.	.	.	T	0.00178	0.0005	N	0.00008	-3.125	0.39754	D	0.971927	B	0.02656	0.0	B	0.01281	0.0	T	0.45673	-0.9245	9	0.23302	T	0.38	.	7.7364	0.28817	0.2529:0.7471:0.0:0.0	.	152	Q6L8H1	KRA54_HUMAN	G	92	ENSP00000382590:V92G	ENSP00000331603:V92G	V	-	2	0	KRTAP5-4	1599625	0.645000	0.27286	0.937000	0.37676	0.105000	0.19272	-0.096000	0.11059	0.380000	0.24823	-0.328000	0.08392	GTC		0.682	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709	
HNRNPCL1	343069	mdanderson.org	37	1	12907313	12907313	+	Missense_Mutation	SNP	G	G	A	rs199978302	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr1:12907313G>A	ENST00000317869.6	-	2	1055	c.830C>T	c.(829-831)gCt>gTt	p.A277V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	277						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TCCTTCCTCAGCCTCTTTTTC	0.483																																						.											0													136.0	156.0	149.0					1																	12907313		2203	4300	6503	SO:0001583	missense	0			BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.830C>T	1.37:g.12907313G>A	ENSP00000365370:p.Ala277Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	9.441	1.088093	0.20390	.	.	ENSG00000179172	ENST00000317869	T	0.10192	2.9	0.926	0.926	0.19430	.	0.684130	0.13415	U	0.389546	T	0.18173	0.0436	L	0.43152	1.355	0.23440	N	0.997671	D	0.76494	0.999	D	0.75484	0.986	T	0.20371	-1.0277	10	0.14252	T	0.57	.	7.7533	0.28909	0.0:0.0:1.0:0.0	.	277	O60812	HNRCL_HUMAN	V	277	ENSP00000365370:A277V	ENSP00000365370:A277V	A	-	2	0	HNRNPCL1	12829900	0.994000	0.37717	0.938000	0.37757	0.160000	0.22226	1.263000	0.33004	0.814000	0.34374	0.173000	0.16961	GCT		0.483	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631	
Unknown	0	mdanderson.org	37	1	13183631	13183631	+	IGR	SNP	A	A	T	rs80009603	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr1:13183631A>T								RP13-221M14.3 (19163 upstream) : PRAMEF26 (32724 downstream)																							CAGGTTAATAACTGCAACCTG	0.502													.|||	165	0.0329473	0.0053	0.0173	5008	,	,		17952	0.0903		0.0348	False		,,,				2504	0.0204					.											0													59.0	45.0	49.0					1																	13183631		691	1587	2278	SO:0001628	intergenic_variant	0																															1.37:g.13183631A>T		Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP		37																																																																																				0	0.502								
MUC16	94025	mdanderson.org	37	19	8999414	8999414	+	Silent	SNP	G	G	A			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr19:8999414G>A	ENST00000397910.4	-	56	40964	c.40761C>T	c.(40759-40761)gaC>gaT	p.D13587D	MUC16_ENST00000380951.5_Silent_p.D228D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13589	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACTGTCCCTGTCCAGGGTGT	0.577																																						.											0													246.0	205.0	218.0					19																	8999414		2073	4216	6289	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40761C>T	19.37:g.8999414G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	2.942	-0.218576	0.06101	.	.	ENSG00000181143	ENST00000542240	.	.	.	3.48	2.44	0.29823	.	.	.	.	.	T	0.39200	0.1069	.	.	.	.	.	.	.	.	.	.	.	.	T	0.45056	-0.9287	3	.	.	.	.	6.0455	0.19758	0.1431:0.0:0.8569:0.0	.	.	.	.	I	427	.	.	T	-	2	0	MUC16	8860414	0.000000	0.05858	0.844000	0.33320	0.437000	0.31866	-0.585000	0.05794	1.967000	0.57214	0.555000	0.69702	ACA		0.577	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC6	4588	mdanderson.org	37	11	1016773	1016773	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr11:1016773G>T	ENST00000421673.2	-	31	6078	c.6028C>A	c.(6028-6030)Cca>Aca	p.P2010T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2010	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)		GAGAAAGGTGGAACGTGAGTG	0.532																																						.											0													1076.0	1024.0	1042.0					11																	1016773		2203	4299	6502	SO:0001583	missense	4588			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.6028C>A	11.37:g.1016773G>T	ENSP00000406861:p.Pro2010Thr	Somatic		WXS	Illumina HiSeq	Phase_I	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	9.910	1.209366	0.22289	.	.	ENSG00000184956	ENST00000421673	T	0.57595	0.39	2.46	-2.25	0.06888	.	.	.	.	.	T	0.38081	0.1027	M	0.65975	2.015	0.09310	N	1	B	0.33413	0.411	B	0.26614	0.071	T	0.27020	-1.0086	9	0.34782	T	0.22	.	0.3267	0.00312	0.277:0.2017:0.3162:0.2051	.	2010	Q6W4X9	MUC6_HUMAN	T	2010	ENSP00000406861:P2010T	ENSP00000406861:P2010T	P	-	1	0	MUC6	1006773	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.333000	0.07894	-0.535000	0.06307	0.313000	0.20887	CCA		0.532	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
MUC6	4588	mdanderson.org	37	11	1016777	1016777	+	Silent	SNP	G	G	A			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr11:1016777G>A	ENST00000421673.2	-	31	6074	c.6024C>T	c.(6022-6024)caC>caT	p.H2008H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2008	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)		AAGGTGGAACGTGAGTGGGAA	0.537																																						.											0													1121.0	1075.0	1090.0					11																	1016777		2203	4299	6502	SO:0001819	synonymous_variant	4588			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.6024C>T	11.37:g.1016777G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.537	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
MUC6	4588	mdanderson.org	37	11	1016787	1016787	+	Missense_Mutation	SNP	A	A	T			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr11:1016787A>T	ENST00000421673.2	-	31	6064	c.6014T>A	c.(6013-6015)cTt>cAt	p.L2005H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2005	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)		GTGAGTGGGAAGTGTGGTCTG	0.537																																						.											0													1245.0	1214.0	1224.0					11																	1016787		2203	4299	6502	SO:0001583	missense	4588			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.6014T>A	11.37:g.1016787A>T	ENSP00000406861:p.Leu2005His	Somatic		WXS	Illumina HiSeq	Phase_I	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.823722	0.32237	.	.	ENSG00000184956	ENST00000421673	T	0.21932	1.98	3.08	-6.16	0.02098	.	.	.	.	.	T	0.14313	0.0346	L	0.58101	1.795	0.09310	N	1	B	0.18461	0.028	B	0.14578	0.011	T	0.28681	-1.0036	9	0.42905	T	0.14	.	0.294	0.00262	0.2732:0.2364:0.2565:0.234	.	2005	Q6W4X9	MUC6_HUMAN	H	2005	ENSP00000406861:L2005H	ENSP00000406861:L2005H	L	-	2	0	MUC6	1006787	.	.	0.000000	0.03702	0.038000	0.13279	.	.	-2.379000	0.00595	0.254000	0.18369	CTT		0.537	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
MUC6	4588	mdanderson.org	37	11	1017162	1017162	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr11:1017162G>A	ENST00000421673.2	-	31	5689	c.5639C>T	c.(5638-5640)cCg>cTg	p.P1880L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1880	Approximate repeats.|Thr-rich.			PTTIKA -> LTTLMN (in Ref. 5; AAA35866). {ECO:0000305}.	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)		GATCGTGGTCGGTGGAGGAAT	0.572																																						.											0													537.0	524.0	529.0					11																	1017162		2201	4287	6488	SO:0001583	missense	4588			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.5639C>T	11.37:g.1017162G>A	ENSP00000406861:p.Pro1880Leu	Somatic		WXS	Illumina HiSeq	Phase_I	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	1.995	-0.430731	0.04669	.	.	ENSG00000184956	ENST00000421673	T	0.24538	1.85	3.05	-4.43	0.03568	.	.	.	.	.	T	0.07728	0.0194	N	0.02539	-0.55	0.09310	N	1	B	0.31351	0.32	B	0.30179	0.112	T	0.29397	-1.0013	9	0.33141	T	0.24	.	4.4014	0.11388	0.2204:0.0:0.3208:0.4588	.	1880	Q6W4X9	MUC6_HUMAN	L	1880	ENSP00000406861:P1880L	ENSP00000406861:P1880L	P	-	2	0	MUC6	1007162	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.624000	0.05540	-0.880000	0.03997	-0.823000	0.03104	CCG		0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
NBPF10	100132406	mdanderson.org;bcgsc.ca	37	1	145323667	145323667	+	Missense_Mutation	SNP	C	C	G	rs199626421		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr1:145323667C>G	ENST00000342960.5	+	27	3539	c.3504C>G	c.(3502-3504)gaC>gaG	p.D1168E	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.D1168E(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTAAAAAGGACGAAGAAGAGG	0.468																																						.											1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	100132406			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3504C>G	1.37:g.145323667C>G	ENSP00000345684:p.Asp1168Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	8.960	0.970347	0.18659	.	.	ENSG00000163386	ENST00000342960	T	0.03272	3.99	.	.	.	.	.	.	.	.	T	0.01905	0.0060	L	0.60455	1.87	0.09310	N	1	.	.	.	.	.	.	T	0.41716	-0.9493	5	0.42905	T	0.14	.	.	.	.	.	.	.	.	E	1168	ENSP00000345684:D1168E	ENSP00000345684:D1168E	D	+	3	2	NBPF10	144035024	0.003000	0.15002	0.002000	0.10522	0.088000	0.18126	0.035000	0.13797	-0.430000	0.07318	0.152000	0.16155	GAC		0.468	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703	
OR4C3	256144	mdanderson.org	37	11	48346513	48346513	+	Silent	SNP	T	T	C	rs78206553	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr11:48346513T>C	ENST00000319856.4	+	1	42	c.21T>C	c.(19-21)ctT>ctC	p.L7L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTCTATTACTTATGTTTCTCC	0.353																																						.											0													114.0	119.0	117.0					11																	48346513		2201	4298	6499	SO:0001819	synonymous_variant	256144			AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.21T>C	11.37:g.48346513T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B2RNF2|Q6IFB3	Silent	SNP	ENST00000319856.4	37	CCDS31489.1																																																																																				0.353	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702	
OR8U1	219417	mdanderson.org	37	11	56143360	56143360	+	Silent	SNP	C	C	T	rs79469149	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr11:56143360C>T	ENST00000302270.1	+	1	261	c.261C>T	c.(259-261)taC>taT	p.Y87Y		NM_001005204.1	NP_001005204.1	Q8NH10	OR8U1_HUMAN	olfactory receptor, family 8, subfamily U, member 1	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					ATTTCTTGTACAAACAAAATG	0.403																																						.											0													234.0	214.0	220.0					11																	56143360		1982	4171	6153	SO:0001819	synonymous_variant	219417			AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199		"""GPCR / Class A : Olfactory receptors"""	19611	protein-coding gene	gene with protein product							Standard	NM_001005204		Approved			Q8NH10	OTTHUMG00000166860	ENST00000302270.1:c.261C>T	11.37:g.56143360C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000302270.1	37	CCDS41647.1																																																																																				0.403	OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391607.1	NM_001005204	
PRAMEF1	65121	mdanderson.org	37	1	12855822	12855822	+	Missense_Mutation	SNP	G	G	A	rs148127907	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr1:12855822G>A	ENST00000332296.7	+	4	1205	c.1102G>A	c.(1102-1104)Gcc>Acc	p.A368T	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.A123T	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	368					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCAACTCAGTGCCATCCTGCC	0.557													.|||	52	0.0103834	0.0	0.0029	5008	,	,		16217	0.0208		0.007	False		,,,				2504	0.0225					.											0													56.0	59.0	58.0					1																	12855822		2203	4296	6499	SO:0001583	missense	65121			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.1102G>A	1.37:g.12855822G>A	ENSP00000332134:p.Ala368Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	10.57	1.386490	0.25031	.	.	ENSG00000116721	ENST00000332296;ENST00000400814	T;T	0.10668	2.85;2.85	1.56	1.56	0.23342	.	0.608476	0.16131	N	0.228175	T	0.08626	0.0214	L	0.35644	1.08	0.09310	N	1	B	0.22003	0.063	B	0.24848	0.056	T	0.24154	-1.0168	10	0.51188	T	0.08	.	6.5617	0.22489	0.0:0.0:1.0:0.0	.	368	O95521	PRAM1_HUMAN	T	368;123	ENSP00000332134:A368T;ENSP00000383616:A123T	ENSP00000332134:A368T	A	+	1	0	PRAMEF1	12778409	0.001000	0.12720	0.070000	0.20053	0.002000	0.02628	0.503000	0.22610	1.170000	0.42753	0.205000	0.17691	GCC		0.557	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013	
PRAMEF18	391003	mdanderson.org	37	1	13474980	13474980	+	Silent	SNP	G	G	A			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr1:13474980G>A	ENST00000376126.2	-	3	1148	c.1149C>T	c.(1147-1149)tgC>tgT	p.C383C		NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN	PRAME family member 18	383					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					lung(2)|ovary(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCGTGAAAGCAGAAAGTGG	0.572																																						.											0													42.0	47.0	45.0					1																	13474980		2164	4248	6412	SO:0001819	synonymous_variant	391003					1p36.21	2013-01-17			ENSG00000204491			"""-"""	30693	protein-coding gene	gene with protein product							Standard			Approved	OTTHUMG00000002932		Q5VWM3	OTTHUMG00000002932	ENST00000376126.2:c.1149C>T	1.37:g.13474980G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000376126.2	37	CCDS41258.1																																																																																				0.572	PRAMEF18-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008177.2	NM_001099850	
PRB2	653247	mdanderson.org	37	12	11546380	11546380	+	Missense_Mutation	SNP	T	T	C	rs11054276		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr12:11546380T>C	ENST00000389362.4	-	3	667	c.632A>G	c.(631-633)aAa>aGa	p.K211R	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	211	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)		p.K211R(1)|p.K190R(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACCTTGAGGTTTGTTGCCTCC	0.602																																						.											2	Substitution - Missense(2)	lung(2)											67.0	87.0	80.0					12																	11546380		2053	4136	6189	SO:0001583	missense	653247			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.632A>G	12.37:g.11546380T>C	ENSP00000374013:p.Lys211Arg	Somatic		WXS	Illumina HiSeq	Phase_I	O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	1.844	-0.466655	0.04476	.	.	ENSG00000121335	ENST00000389362	T	0.04603	3.59	0.892	0.892	0.19230	.	3.389640	0.02448	U	0.085243	T	0.03053	0.0090	N	0.25647	0.755	0.09310	N	1	P	0.45594	0.862	B	0.34722	0.188	T	0.39502	-0.9611	10	0.07990	T	0.79	.	4.2103	0.10509	0.0:0.0:0.0:1.0	.	211	P02812	PRB2_HUMAN	R	211	ENSP00000374013:K211R	ENSP00000374013:K211R	K	-	2	0	PRB2	11437647	0.000000	0.05858	0.035000	0.18076	0.652000	0.38707	-0.831000	0.04405	0.149000	0.19098	0.147000	0.16070	AAA		0.602	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248	
PRB2	653247	mdanderson.org	37	12	11546395	11546395	+	Missense_Mutation	SNP	G	G	T	rs11054277	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr12:11546395G>T	ENST00000389362.4	-	3	652	c.617C>A	c.(616-618)cCa>cAa	p.P206Q	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	206	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)		p.P185Q(1)|p.P206Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GCCTCCTTGTGGGGGTGGTCC	0.602													g|||	257	0.0513179	0.0091	0.062	5008	,	,		19479	0.0804		0.1113	False		,,,				2504	0.0092					.											2	Substitution - Missense(2)	lung(2)											68.0	78.0	75.0					12																	11546395		2075	4125	6200	SO:0001583	missense	653247			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.617C>A	12.37:g.11546395G>T	ENSP00000374013:p.Pro206Gln	Somatic		WXS	Illumina HiSeq	Phase_I	O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	13.45	2.239350	0.39598	.	.	ENSG00000121335	ENST00000389362	T	0.04551	3.6	1.46	-2.65	0.06095	.	0.000000	0.35466	U	0.003186	T	0.04907	0.0132	L	0.33792	1.035	0.22888	N	0.998607	D	0.59357	0.985	P	0.52031	0.688	T	0.29882	-0.9997	10	0.42905	T	0.14	.	3.3379	0.07107	0.2091:0.2667:0.5243:0.0	.	206	P02812	PRB2_HUMAN	Q	206	ENSP00000374013:P206Q	ENSP00000374013:P206Q	P	-	2	0	PRB2	11437662	0.001000	0.12720	0.029000	0.17559	0.747000	0.42532	-0.415000	0.07106	-0.824000	0.04295	0.291000	0.19559	CCA		0.602	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248	
PRSS3	5646	mdanderson.org	37	9	33797992	33797992	+	Silent	SNP	C	C	T	rs147593137	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr9:33797992C>T	ENST00000361005.5	+	3	537	c.537C>T	c.(535-537)cgC>cgT	p.R179R	RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Silent_p.R115R|PRSS3_ENST00000342836.4_Silent_p.R136R|PRSS3_ENST00000379405.3_Silent_p.R122R	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	179	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R179R(1)|p.R122R(1)		large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			TCAATGCCCGCGTGTCCACCA	0.577																																						.											2	Substitution - coding silent(2)	prostate(2)											218.0	165.0	183.0					9																	33797992		2203	4300	6503	SO:0001819	synonymous_variant	5646				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.537C>T	9.37:g.33797992C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Silent	SNP	ENST00000361005.5	37	CCDS47958.1																																																																																				0.577	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771	
RAP1GDS1	5910	mdanderson.org	37	4	99341203	99341203	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr4:99341203T>C	ENST00000408927.3	+	11	1321	c.1208T>C	c.(1207-1209)gTc>gCc	p.V403A	RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.V404A|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.V355A|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.V404A|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.V354A|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.V312A	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	403					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TCAGCTGGGGTCACAGAGGCA	0.333			T	NUP98	T-ALL																																	.		Dom	yes		4	4q21-q25	5910	"""RAP1, GTP-GDP dissociation stimulator 1"""		L	0													96.0	97.0	96.0					4																	99341203		1812	4083	5895	SO:0001583	missense	5910				CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.1208T>C	4.37:g.99341203T>C	ENSP00000386153:p.Val403Ala	Somatic		WXS	Illumina HiSeq	Phase_I	E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	37	CCDS43253.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.777893	0.90195	.	.	ENSG00000138698	ENST00000380158;ENST00000264572;ENST00000408927;ENST00000453712;ENST00000408900;ENST00000339360	T;T;T;T;T;T	0.50001	0.76;1.53;0.76;0.76;0.76;0.76	6.06	6.06	0.98353	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61751	0.2372	L	0.48362	1.52	0.80722	D	1	D;D;D;B;B;D	0.58970	0.982;0.982;0.969;0.073;0.369;0.984	P;D;D;B;B;P	0.70227	0.869;0.968;0.93;0.008;0.116;0.832	T	0.56450	-0.7977	10	0.29301	T	0.29	-9.3056	16.6154	0.84909	0.0:0.0:0.0:1.0	.	312;354;355;403;404;404	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9	.;.;.;GDS1_HUMAN;.;.	A	355;312;403;404;354;404	ENSP00000369503:V355A;ENSP00000264572:V312A;ENSP00000386153:V403A;ENSP00000407157:V404A;ENSP00000386223:V354A;ENSP00000340454:V404A	ENSP00000264572:V312A	V	+	2	0	RAP1GDS1	99560226	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.664000	0.83830	2.315000	0.78130	0.533000	0.62120	GTC		0.333	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426	
SLC35G5	83650	mdanderson.org	37	8	11188806	11188806	+	Missense_Mutation	SNP	G	G	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr8:11188806G>C	ENST00000382435.4	+	1	410	c.191G>C	c.(190-192)gGt>gCt	p.G64A		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	64	EamA 1.					integral component of membrane (GO:0016021)		p.G64A(1)									GCTTACCAGGGTTCCAACCTG	0.637																																						.											1	Substitution - Missense(1)	skin(1)											151.0	146.0	148.0					8																	11188806		2203	4300	6503	SO:0001583	missense	83650			AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.191G>C	8.37:g.11188806G>C	ENSP00000371872:p.Gly64Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.054055	0.00390	.	.	ENSG00000177710	ENST00000382435	T	0.50277	0.75	0.34	0.34	0.15985	.	0.536315	0.15627	N	0.252577	T	0.16471	0.0396	N	0.02539	-0.55	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.25847	-1.0120	10	0.07644	T	0.81	-3.0E-4	6.0882	0.19978	0.0:0.3644:0.6356:0.0	.	64	Q96KT7	S35G5_HUMAN	A	64	ENSP00000371872:G64A	ENSP00000371872:G64A	G	+	2	0	SLC35G5	11226216	0.005000	0.15991	0.845000	0.33349	0.156000	0.22039	0.073000	0.14640	-1.304000	0.02329	-1.954000	0.00483	GGT		0.637	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028	
SLC35G5	83650	mdanderson.org	37	8	11189464	11189464	+	Silent	SNP	C	C	T	rs58771247	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr8:11189464C>T	ENST00000382435.4	+	1	1068	c.849C>T	c.(847-849)tgC>tgT	p.C283C		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	283	EamA 2.					integral component of membrane (GO:0016021)											CCCTGGTGTGCGCTGTCCTGC	0.577													C|||	221	0.0441294	0.1626	0.0072	5008	,	,		18296	0.0		0.0	False		,,,				2504	0.001					.											0								C		547,3859	227.5+/-242.7	29,489,1685	128.0	122.0	124.0		849		0.2	8	dbSNP_129	124	4,8594	3.7+/-12.6	0,4,4295	no	coding-synonymous	SLC35G5	NM_054028.1		29,493,5980	TT,TC,CC		0.0465,12.4149,4.2372		283/339	11189464	551,12453	2203	4299	6502	SO:0001819	synonymous_variant	83650			AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.849C>T	8.37:g.11189464C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A2RRL6	Silent	SNP	ENST00000382435.4	37	CCDS5980.1																																																																																				0.577	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028	
SLC35G5	83650	mdanderson.org	37	8	11189485	11189485	+	Silent	SNP	G	G	T			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr8:11189485G>T	ENST00000382435.4	+	1	1089	c.870G>T	c.(868-870)gtG>gtT	p.V290V		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	290	EamA 2.					integral component of membrane (GO:0016021)											ATTCCGAGGTGGTTGTGGCCC	0.572																																						.											0													131.0	119.0	123.0					8																	11189485		2203	4299	6502	SO:0001819	synonymous_variant	83650			AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.870G>T	8.37:g.11189485G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A2RRL6	Silent	SNP	ENST00000382435.4	37	CCDS5980.1																																																																																				0.572	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028	
TDG	6996	mdanderson.org	37	12	104376608	104376608	+	Silent	SNP	G	G	A	rs61937629	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr12:104376608G>A	ENST00000392872.3	+	5	744	c.510G>A	c.(508-510)gaG>gaA	p.E170E	AC078819.1_ENST00000401157.1_RNA|TDG_ENST00000542036.1_5'UTR|TDG_ENST00000544861.1_Silent_p.E27E|TDG_ENST00000266775.9_Silent_p.E166E	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	170					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)	p.E170E(1)		large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		GGCTCAGTGAGGTCCAGCTGA	0.443								Base excision repair (BER), DNA glycosylases																														.											1	Substitution - coding silent(1)	stomach(1)											124.0	116.0	118.0					12																	104376608		2203	4300	6503	SO:0001819	synonymous_variant	6996			U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.510G>A	12.37:g.104376608G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q8IUZ6|Q8IZM3	Silent	SNP	ENST00000392872.3	37	CCDS9095.1																																																																																				0.443	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2		
TPSB2	64499	mdanderson.org	37	16	1279704	1279704	+	RNA	SNP	A	A	G	rs202107419	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr16:1279704A>G	ENST00000339687.6	-	0	118				TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000430512.2_RNA			P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				CCTGACCCCCAACGATGCCCA	0.697																																						.											0													30.0	38.0	35.0					16																	1279704		2182	4298	6480			64499			AF099143		16p13.3	2009-11-20	2009-11-18		ENSG00000197253	ENSG00000197253			14120	protein-coding gene	gene with protein product	"""tryptase beta II"", ""tryptase beta III"""	191081	"""tryptase beta 2"""			19748655	Standard	NM_024164		Approved		uc002cky.3	P20231	OTTHUMG00000155926		16.37:g.1279704A>G		Somatic		WXS	Illumina HiSeq	Phase_I	D2E6S0|D2E6S2|O95827|Q15664|Q9UQI6|Q9UQI7	Silent	SNP	ENST00000339687.6	37																																																																																					0.697	TPSB2-002	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000342364.1	NM_024164	
TPSB2	64499	mdanderson.org	37	16	1279710	1279710	+	RNA	SNP	G	G	A	rs200630968	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr16:1279710G>A	ENST00000339687.6	-	0	112				TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000430512.2_RNA			P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				CCCCAACGATGCCCACTCGCT	0.706																																						.											0													27.0	34.0	32.0					16																	1279710		2182	4297	6479			64499			AF099143		16p13.3	2009-11-20	2009-11-18		ENSG00000197253	ENSG00000197253			14120	protein-coding gene	gene with protein product	"""tryptase beta II"", ""tryptase beta III"""	191081	"""tryptase beta 2"""			19748655	Standard	NM_024164		Approved		uc002cky.3	P20231	OTTHUMG00000155926		16.37:g.1279710G>A		Somatic		WXS	Illumina HiSeq	Phase_I	D2E6S0|D2E6S2|O95827|Q15664|Q9UQI6|Q9UQI7	Silent	SNP	ENST00000339687.6	37																																																																																					0.706	TPSB2-002	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000342364.1	NM_024164	
TPSB2	64499	mdanderson.org	37	16	1279714	1279714	+	RNA	SNP	A	A	G	rs192643610	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr16:1279714A>G	ENST00000339687.6	-	0	108				TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000430512.2_RNA			P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				AACGATGCCCACTCGCTGCAG	0.711																																						.											0													25.0	32.0	29.0					16																	1279714		2180	4295	6475			64499			AF099143		16p13.3	2009-11-20	2009-11-18		ENSG00000197253	ENSG00000197253			14120	protein-coding gene	gene with protein product	"""tryptase beta II"", ""tryptase beta III"""	191081	"""tryptase beta 2"""			19748655	Standard	NM_024164		Approved		uc002cky.3	P20231	OTTHUMG00000155926		16.37:g.1279714A>G		Somatic		WXS	Illumina HiSeq	Phase_I	D2E6S0|D2E6S2|O95827|Q15664|Q9UQI6|Q9UQI7	Missense_Mutation	SNP	ENST00000339687.6	37		171	0.0782967032967033	39	0.07926829268292683	28	0.07734806629834254	44	0.07692307692307693	60	0.079155672823219	a	8.603	0.887339	0.17540	.	.	ENSG00000197253	ENST00000430512	T	0.81078	-1.45	4.02	-8.04	0.01110	.	1.382050	0.04868	N	0.445430	T	0.05090	0.0136	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32375	-0.9909	9	0.07644	T	0.81	.	3.7543	0.08579	0.5801:0.1008:0.1165:0.2027	.	29	P20231	TRYB2_HUMAN	A	29	ENSP00000412409:V29A	ENSP00000412409:V29A	V	-	2	0	TPSB2	1219715	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.520000	0.00221	-2.364000	0.00607	-1.306000	0.01317	GTG		0.711	TPSB2-002	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000342364.1	NM_024164	
TPSB2	64499	mdanderson.org	37	16	1279717	1279717	+	RNA	SNP	C	C	T	rs201728868	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr16:1279717C>T	ENST00000339687.6	-	0	105				TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000430512.2_RNA			P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				GATGCCCACTCGCTGCAGGGC	0.711																																						.											0													23.0	30.0	28.0					16																	1279717		2181	4295	6476			64499			AF099143		16p13.3	2009-11-20	2009-11-18		ENSG00000197253	ENSG00000197253			14120	protein-coding gene	gene with protein product	"""tryptase beta II"", ""tryptase beta III"""	191081	"""tryptase beta 2"""			19748655	Standard	NM_024164		Approved		uc002cky.3	P20231	OTTHUMG00000155926		16.37:g.1279717C>T		Somatic		WXS	Illumina HiSeq	Phase_I	D2E6S0|D2E6S2|O95827|Q15664|Q9UQI6|Q9UQI7	Missense_Mutation	SNP	ENST00000339687.6	37		.	.	.	.	.	.	.	.	.	.	C	9.729	1.161875	0.21538	.	.	ENSG00000197253	ENST00000430512	T	0.81078	-1.45	4.02	0.801	0.18679	.	0.365821	0.20030	N	0.100730	T	0.56920	0.2018	.	.	.	0.09310	N	1	B	0.25351	0.124	B	0.17722	0.019	T	0.35051	-0.9804	9	0.13108	T	0.6	.	3.9752	0.09472	0.1906:0.5843:0.0:0.225	.	28	P20231	TRYB2_HUMAN	Q	28	ENSP00000412409:R28Q	ENSP00000412409:R28Q	R	-	2	0	TPSB2	1219718	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.308000	0.08156	0.286000	0.22352	0.462000	0.41574	CGA		0.711	TPSB2-002	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000342364.1	NM_024164	
UGT1A9	54600	mdanderson.org	37	2	234580967	234580967	+	Silent	SNP	A	A	G	rs28946876	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr2:234580967A>G	ENST00000354728.4	+	1	469	c.387A>G	c.(385-387)aaA>aaG	p.K129K	UGT1A1_ENST00000609637.1_Silent_p.K129K|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	129					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	GTTTGTTTAAAGACAAAAAAT	0.313																																						.											0													99.0	101.0	101.0					2																	234580967		2203	4300	6503	SO:0001819	synonymous_variant	54600			AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"""UDP glucuronosyltransferases"""	12541	other	complex locus constituent		606434	"""UDP glycosyltransferase 1 family, polypeptide A9"""			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.387A>G	2.37:g.234580967A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B8K285|P36509|Q9HAX0	Silent	SNP	ENST00000354728.4	37	CCDS2505.1																																																																																				0.313	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027	
UGT1A9	54600	mdanderson.org	37	2	234581002	234581002	+	Missense_Mutation	SNP	C	C	G	rs76167146	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr2:234581002C>G	ENST00000354728.4	+	1	504	c.422C>G	c.(421-423)tCt>tGt	p.S141C	UGT1A1_ENST00000609637.1_Missense_Mutation_p.S141C|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	141					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	AAGGAGAGTTCTTTTGATGCA	0.358																																						.											0													125.0	125.0	125.0					2																	234581002		2203	4300	6503	SO:0001583	missense	54600			AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"""UDP glucuronosyltransferases"""	12541	other	complex locus constituent		606434	"""UDP glycosyltransferase 1 family, polypeptide A9"""			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.422C>G	2.37:g.234581002C>G	ENSP00000346768:p.Ser141Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	C	5.531	0.282927	0.10458	.	.	ENSG00000241119	ENST00000354728	T	0.62639	0.01	3.41	3.41	0.39046	.	.	.	.	.	T	0.61375	0.2342	M	0.81942	2.565	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.12837	0.008;0.008	T	0.58036	-0.7707	9	0.66056	D	0.02	.	6.3779	0.21517	0.334:0.5079:0.1581:0.0	.	141;141	Q5DSZ5;O60656	.;UD19_HUMAN	C	141	ENSP00000346768:S141C	ENSP00000346768:S141C	S	+	2	0	UGT1A9	234245741	0.000000	0.05858	0.866000	0.34008	0.471000	0.32888	0.356000	0.20181	1.907000	0.55213	0.440000	0.28878	TCT		0.358	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027	
UGT1A9	54600	mdanderson.org	37	2	234581034	234581035	+	Missense_Mutation	DNP	AA	AA	GC			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	AA	AA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr2:234581034_234581035AA>GC	ENST00000354728.4	+	1	536_537	c.454_455AA>GC	c.(454-456)AAc>GCc	p.N152A	UGT1A1_ENST00000609637.1_Missense_Mutation_p.N152A|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	152					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	TCCTTTTGATAACTGTGGCTTA	0.396																																						.											0																																										SO:0001583	missense	54600			AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"""UDP glucuronosyltransferases"""	12541	other	complex locus constituent		606434	"""UDP glycosyltransferase 1 family, polypeptide A9"""			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	Exception_encountered	2.37:g.234581034_234581035delinsGC	ENSP00000346768:p.Asn152Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B8K285|P36509|Q9HAX0	Missense_Mutation	DNP	ENST00000354728.4	37	CCDS2505.1																																																																																				0.396	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027	
ZNF208	7757	mdanderson.org	37	19	22156870	22156870	+	Silent	SNP	G	G	A	rs200854866		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr19:22156870G>A	ENST00000397126.4	-	4	1114	c.966C>T	c.(964-966)ttC>ttT	p.F322F	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGACCTTACTGAAGGCTTTGC	0.413																																						.											0								A		116,3898		27,62,1918	63.0	64.0	64.0		966	-0.7	0.0	19		64	312,7914		76,160,3877	no	coding-synonymous	ZNF208	NM_007153.3		103,222,5795	AA,AG,GG		3.7929,2.8899,3.4967		322/1281	22156870	428,11812	2007	4113	6120	SO:0001819	synonymous_variant	7757			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.966C>T	19.37:g.22156870G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000397126.4	37	CCDS54240.1																																																																																				0.413	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
ZNF285	26974	mdanderson.org	37	19	44891003	44891003	+	Silent	SNP	G	G	A	rs201302972		TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr19:44891003G>A	ENST00000330997.4	-	4	1468	c.1404C>T	c.(1402-1404)agC>agT	p.S468S	ZNF285_ENST00000544719.2_Silent_p.S468S|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Silent_p.S475S	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	468					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GAAGAACAGAGCTATACGCAA	0.418																																						.											0													86.0	87.0	87.0					19																	44891003		2203	4300	6503	SO:0001819	synonymous_variant	26974			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1404C>T	19.37:g.44891003G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q17RJ3|Q6B0A8|Q6ISR5	Silent	SNP	ENST00000330997.4	37	CCDS12638.1																																																																																				0.418	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354	
ZNF285	26974	mdanderson.org	37	19	44891010	44891010	+	Missense_Mutation	SNP	G	G	C	rs150792548	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr19:44891010G>C	ENST00000330997.4	-	4	1461	c.1397C>G	c.(1396-1398)gCg>gGg	p.A466G	ZNF285_ENST00000544719.2_Missense_Mutation_p.A466G|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.A473G	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A466G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						AGAGCTATACGCAAAATCCTT	0.418																																						.											1	Substitution - Missense(1)	skin(1)											83.0	84.0	83.0					19																	44891010		2203	4300	6503	SO:0001583	missense	26974			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1397C>G	19.37:g.44891010G>C	ENSP00000333595:p.Ala466Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	G	9.126	1.010205	0.19277	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.08008	3.14	3.46	0.829	0.18847	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08714	0.0216	L	0.45744	1.44	0.09310	N	1	B;B	0.34399	0.452;0.0	B;B	0.36666	0.23;0.001	T	0.29488	-1.0010	9	0.56958	D	0.05	.	6.4144	0.21708	0.1094:0.3586:0.532:0.0	.	490;466	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	G	489;466	ENSP00000333595:A466G	ENSP00000333595:A466G	A	-	2	0	ZNF285	49582850	0.000000	0.05858	0.002000	0.10522	0.860000	0.49131	-6.159000	0.00078	0.511000	0.28236	0.298000	0.19748	GCG		0.418	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354	
VN1R4	317703	mdanderson.org	37	19	53770838	53770838	+	Silent	SNP	G	G	A	rs201450916	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr19:53770838G>A	ENST00000311170.4	-	1	134	c.81C>T	c.(79-81)ctC>ctT	p.L27L	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	27					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		AGAGATAATGGAGAAGAACAG	0.493										HNSCC(26;0.072)			G|||	13	0.00259585	0.0	0.0	5008	,	,		19592	0.0129		0.0	False		,,,				2504	0.0					.											0													56.0	61.0	59.0					19																	53770838		2203	4300	6503	SO:0001819	synonymous_variant	317703			AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.81C>T	19.37:g.53770838G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Silent	SNP	ENST00000311170.4	37	CCDS33099.1																																																																																				0.493	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857	
ZNF587	84914	mdanderson.org	37	19	58371136	58371136	+	Silent	SNP	G	G	C	rs10405648	byFrequency	TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr19:58371136G>C	ENST00000339656.5	+	3	1538	c.1356G>C	c.(1354-1356)ctG>ctC	p.L452L	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000423137.1_Silent_p.L451L|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000419854.1_Silent_p.L409L|ZNF814_ENST00000597652.1_5'Flank	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		ATCATCTTCTGGTTCATGAGA	0.433																																					Pancreas(59;641 1233 1885 20055 50741)	.											0								C	,	1481,2925		369,743,1091	125.0	154.0	144.0		1353,1356	-3.5	0.0	19	dbSNP_119	144	556,8044		36,484,3780	no	coding-synonymous,coding-synonymous	ZNF587	NM_001204817.1,NM_032828.3	,	405,1227,4871	CC,CG,GG		6.4651,33.6133,15.662	,	451/575,452/576	58371136	2037,10969	2203	4300	6503	SO:0001819	synonymous_variant	84914			AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"""Zinc fingers, C2H2-type"", ""-"""	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.1356G>C	19.37:g.58371136G>C		Somatic		WXS	Illumina HiSeq	Phase_I	A0AV72|G3V0H5|Q6ZMK8	Silent	SNP	ENST00000339656.5	37	CCDS12964.1																																																																																				0.433	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2	NM_032828	
TMEM260	54916	bcgsc.ca	37	14	57082681	57082681	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr14:57082681A>G	ENST00000261556.6	+	8	999	c.877A>G	c.(877-879)Agg>Ggg	p.R293G	TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000553335.1_3'UTR|TMEM260_ENST00000538838.1_Missense_Mutation_p.R293G	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	293						integral component of membrane (GO:0016021)											AACAAATATGAGGACCGAACT	0.313																																						.											0													131.0	135.0	134.0					14																	57082681		2203	4299	6502	SO:0001583	missense	0			AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.877A>G	14.37:g.57082681A>G	ENSP00000261556:p.Arg293Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	37	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	A	9.038	0.989011	0.18966	.	.	ENSG00000070269	ENST00000261556;ENST00000538838	T;T	0.42900	1.55;0.96	5.89	5.89	0.94794	.	0.493681	0.24808	N	0.035431	T	0.35393	0.0930	L	0.44542	1.39	0.80722	D	1	B	0.21520	0.057	B	0.14023	0.01	T	0.11567	-1.0582	10	0.22109	T	0.4	-9.7491	13.8303	0.63377	1.0:0.0:0.0:0.0	.	293	Q9NX78	CN101_HUMAN	G	293	ENSP00000261556:R293G;ENSP00000441934:R293G	ENSP00000261556:R293G	R	+	1	2	C14orf101	56152434	1.000000	0.71417	0.998000	0.56505	0.345000	0.29048	4.855000	0.62925	2.250000	0.74265	0.477000	0.44152	AGG		0.313	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799	
ATP10A	57194	bcgsc.ca	37	15	25928591	25928591	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr15:25928591A>G	ENST00000356865.6	-	17	3445	c.3334T>C	c.(3334-3336)Ttc>Ctc	p.F1112L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1112					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|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)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GATGCAGAGAAGCCACAGAAA	0.488																																						.											0													77.0	75.0	76.0					15																	25928591		2203	4300	6503	SO:0001583	missense	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3334T>C	15.37:g.25928591A>G	ENSP00000349325:p.Phe1112Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	A	33	5.246143	0.95272	.	.	ENSG00000206190	ENST00000356865	T	0.72394	-0.65	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.87900	0.6294	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.91319	0.5080	10	0.87932	D	0	-32.2913	14.3699	0.66833	1.0:0.0:0.0:0.0	.	1112	O60312	AT10A_HUMAN	L	1112	ENSP00000349325:F1112L	ENSP00000349325:F1112L	F	-	1	0	ATP10A	23479684	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.963000	0.93385	1.790000	0.52503	0.533000	0.62120	TTC		0.488	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	
ITGA2	3673	bcgsc.ca	37	5	52376391	52376394	+	Frame_Shift_Del	DEL	TCCC	TCCC	-			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	TCCC	TCCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr5:52376391_52376394delTCCC	ENST00000296585.5	+	25	3122_3125	c.2979_2982delTCCC	c.(2977-2982)attcccfs	p.IP993fs		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	993					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TCATCCACATCCCTCAGTATACCA	0.392																																						.											0																																										SO:0001589	frameshift_variant	3673				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.2979_2982delTCCC	5.37:g.52376391_52376394delTCCC	ENSP00000296585:p.Ile993fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q14595	Frame_Shift_Del	DEL	ENST00000296585.5	37	CCDS3957.1																																																																																				0.392	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203	
ADAM9	8754	bcgsc.ca	37	8	38912013	38912013	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chr8:38912013A>G	ENST00000487273.2	+	13	1394	c.1316A>G	c.(1315-1317)gAc>gGc	p.D439G		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	439	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TGTGAATTGGACCCTTGCTGC	0.358																																						.											0													130.0	112.0	118.0					8																	38912013		2203	4300	6503	SO:0001583	missense	8754			U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.1316A>G	8.37:g.38912013A>G	ENSP00000419446:p.Asp439Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	ENST00000487273.2	37	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.937918	0.92526	.	.	ENSG00000168615	ENST00000487273	T	0.13196	2.61	5.77	5.77	0.91146	Blood coagulation inhibitor, Disintegrin (5);	0.143965	0.64402	D	0.000007	T	0.38931	0.1059	M	0.79926	2.475	0.80722	D	1	D	0.56746	0.977	D	0.62955	0.909	T	0.28396	-1.0045	10	0.72032	D	0.01	.	16.0937	0.81106	1.0:0.0:0.0:0.0	.	439	Q13443	ADAM9_HUMAN	G	439	ENSP00000419446:D439G	ENSP00000369249:D439G	D	+	2	0	ADAM9	39031170	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.766000	0.91728	2.211000	0.71520	0.455000	0.32223	GAC		0.358	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2		
MT-ND1	4535	bcgsc.ca	37	M	3727	3727	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chrM:3727T>C	ENST00000361390.2	+	1	421	c.421T>C	c.(421-423)Tca>Cca	p.S141P	MT-CO1_ENST00000361624.2_5'Flank|MT-TY_ENST00000387409.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TV_ENST00000387342.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TM_ENST00000387377.1_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1	141					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCCAAACAATCTCATATGAAG	0.468																																						.											0																																										SO:0001583	missense	10625					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886		ENST00000361390.2:c.421T>C	M.37:g.3727T>C	ENSP00000354687:p.Ser141Pro	Somatic		WXS	Illumina HiSeq	Phase_I	C0JKH6|Q37523	Missense_Mutation	SNP	ENST00000361390.2	37																																																																																					0.468	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024026	
MT-ND4	4538	bcgsc.ca	37	M	11711	11711	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8410-01A-11D-2310-10	TCGA-KO-8410-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	798bd17b-69b7-40d7-92ff-7c2389edcccf	01229abb-7ade-4ab4-be30-3406270b8e6d	g.chrM:11711G>A	ENST00000361381.2	+	1	952	c.952G>A	c.(952-954)Gcc>Acc	p.A318T	MT-TG_ENST00000387429.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-ND5_ENST00000361567.2_5'Flank			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	318					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						TTCTCATAATCGCCCACGGAC	0.483																																						.											0																																										SO:0001583	missense	0					mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.952G>A	M.37:g.11711G>A	ENSP00000354961:p.Ala318Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q6RL39|Q6RQN9|Q8HNR8	Missense_Mutation	SNP	ENST00000361381.2	37																																																																																					0.483	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035	
